Incidental Mutation 'R4917:Pcdhgb8'
| ID |
378340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb8
|
| Ensembl Gene |
ENSMUSG00000103081 |
| Gene Name |
protocadherin gamma subfamily B, 8 |
| Synonyms |
|
| MMRRC Submission |
042519-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R4917 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37894854-37973542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37897191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 754
(N754Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192535]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000193414]
[ENSMUST00000194928]
[ENSMUST00000193869]
[ENSMUST00000192511]
[ENSMUST00000192931]
[ENSMUST00000194544]
[ENSMUST00000193404]
[ENSMUST00000195764]
[ENSMUST00000208907]
[ENSMUST00000195112]
[ENSMUST00000195823]
[ENSMUST00000195363]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003599
|
| SMART Domains |
Protein: ENSMUSP00000003599
Gene: ENSMUSG00000103088
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
8.06e-6 |
SMART |
|
CA
|
155 |
240 |
2.29e-19 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
4.94e-24 |
SMART |
|
CA
|
474 |
560 |
7.6e-25 |
SMART |
|
CA
|
591 |
672 |
9.18e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
687 |
768 |
3.5e-20 |
PFAM |
|
Pfam:Cadherin_tail
|
807 |
930 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044851
|
| SMART Domains |
Protein: ENSMUSP00000036359
Gene: ENSMUSG00000102428
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
3.28e-1 |
SMART |
|
CA
|
155 |
240 |
1.8e-17 |
SMART |
|
CA
|
264 |
345 |
9.22e-24 |
SMART |
|
CA
|
369 |
450 |
1.28e-22 |
SMART |
|
CA
|
474 |
560 |
1.09e-25 |
SMART |
|
CA
|
591 |
669 |
9.24e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.6e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061279
|
| SMART Domains |
Protein: ENSMUSP00000058362
Gene: ENSMUSG00000102742
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
3.23e-2 |
SMART |
|
CA
|
155 |
240 |
2.22e-17 |
SMART |
|
CA
|
264 |
345 |
3.36e-26 |
SMART |
|
CA
|
369 |
450 |
7.09e-25 |
SMART |
|
CA
|
474 |
560 |
3.55e-25 |
SMART |
|
CA
|
591 |
669 |
2.53e-12 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
914 |
933 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066149
|
| SMART Domains |
Protein: ENSMUSP00000067728
Gene: ENSMUSG00000103897
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
4.84e-2 |
SMART |
|
CA
|
155 |
240 |
1.48e-22 |
SMART |
|
CA
|
264 |
345 |
1.14e-23 |
SMART |
|
CA
|
369 |
450 |
9.44e-21 |
SMART |
|
CA
|
474 |
560 |
1.03e-26 |
SMART |
|
CA
|
591 |
669 |
3.64e-13 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3e-25 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073447
|
| SMART Domains |
Protein: ENSMUSP00000073150
Gene: ENSMUSG00000104346
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
CA
|
42 |
128 |
2.15e-2 |
SMART |
|
CA
|
152 |
237 |
4.8e-13 |
SMART |
|
CA
|
261 |
342 |
9.36e-25 |
SMART |
|
CA
|
366 |
447 |
6.62e-25 |
SMART |
|
CA
|
471 |
557 |
6.72e-26 |
SMART |
|
CA
|
588 |
666 |
2.15e-15 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
4.8e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
805 |
928 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091935
|
| SMART Domains |
Protein: ENSMUSP00000089555
Gene: ENSMUSG00000102440
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
32 |
132 |
8.37e-3 |
SMART |
|
CA
|
156 |
241 |
5.51e-22 |
SMART |
|
CA
|
265 |
346 |
8.27e-26 |
SMART |
|
CA
|
370 |
451 |
1.4e-23 |
SMART |
|
CA
|
475 |
561 |
2.97e-27 |
SMART |
|
CA
|
592 |
670 |
1.18e-12 |
SMART |
|
Pfam:Cadherin_C_2
|
688 |
772 |
3.9e-24 |
PFAM |
|
Pfam:Cadherin_tail
|
809 |
932 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180922
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192535
|
| SMART Domains |
Protein: ENSMUSP00000142010
Gene: ENSMUSG00000103749
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
8e-3 |
SMART |
|
CA
|
155 |
240 |
2.49e-20 |
SMART |
|
CA
|
264 |
341 |
4.97e-29 |
SMART |
|
CA
|
365 |
446 |
1.09e-25 |
SMART |
|
CA
|
470 |
556 |
1.75e-24 |
SMART |
|
CA
|
587 |
668 |
9.18e-10 |
SMART |
|
transmembrane domain
|
687 |
709 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
926 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194190
|
| SMART Domains |
Protein: ENSMUSP00000142062
Gene: ENSMUSG00000103144
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
31 |
131 |
3.16e-2 |
SMART |
|
CA
|
155 |
240 |
5.39e-16 |
SMART |
|
CA
|
264 |
345 |
6.72e-26 |
SMART |
|
CA
|
369 |
450 |
1.32e-24 |
SMART |
|
CA
|
474 |
560 |
4.17e-22 |
SMART |
|
CA
|
591 |
669 |
4.48e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194418
|
| SMART Domains |
Protein: ENSMUSP00000142140
Gene: ENSMUSG00000103677
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
44 |
130 |
1.64e-2 |
SMART |
|
CA
|
154 |
239 |
3.93e-18 |
SMART |
|
CA
|
263 |
344 |
5.22e-23 |
SMART |
|
CA
|
368 |
449 |
5.02e-25 |
SMART |
|
CA
|
473 |
559 |
2.07e-26 |
SMART |
|
CA
|
590 |
668 |
6.84e-18 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193414
|
| SMART Domains |
Protein: ENSMUSP00000141893
Gene: ENSMUSG00000103567
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
45 |
131 |
2.45e-1 |
SMART |
|
CA
|
155 |
240 |
1.05e-18 |
SMART |
|
CA
|
264 |
345 |
6.52e-24 |
SMART |
|
CA
|
369 |
450 |
5.99e-23 |
SMART |
|
CA
|
474 |
560 |
6.99e-24 |
SMART |
|
CA
|
591 |
669 |
5.31e-15 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194928
|
| SMART Domains |
Protein: ENSMUSP00000141997
Gene: ENSMUSG00000104063
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
131 |
2.48e-6 |
SMART |
|
CA
|
155 |
240 |
1.57e-17 |
SMART |
|
CA
|
264 |
343 |
1.29e-27 |
SMART |
|
CA
|
367 |
448 |
9.14e-28 |
SMART |
|
CA
|
472 |
558 |
1.24e-24 |
SMART |
|
CA
|
589 |
670 |
3.73e-10 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
721 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
929 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193869
|
| SMART Domains |
Protein: ENSMUSP00000141482
Gene: ENSMUSG00000103332
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
1.64e-2 |
SMART |
|
CA
|
155 |
240 |
6.42e-23 |
SMART |
|
CA
|
264 |
345 |
1.76e-20 |
SMART |
|
CA
|
369 |
450 |
2.27e-23 |
SMART |
|
CA
|
474 |
560 |
1.5e-23 |
SMART |
|
CA
|
591 |
669 |
1.17e-16 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
912 |
931 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192511
|
| SMART Domains |
Protein: ENSMUSP00000141704
Gene: ENSMUSG00000103472
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
47 |
133 |
1.57e-2 |
SMART |
|
CA
|
157 |
242 |
3.24e-19 |
SMART |
|
CA
|
266 |
347 |
3.21e-23 |
SMART |
|
CA
|
371 |
452 |
9.08e-23 |
SMART |
|
CA
|
476 |
562 |
1.32e-24 |
SMART |
|
CA
|
593 |
671 |
3.5e-15 |
SMART |
|
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
935 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192931
|
| SMART Domains |
Protein: ENSMUSP00000141348
Gene: ENSMUSG00000103037
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
36 |
119 |
8e-3 |
SMART |
|
CA
|
143 |
228 |
1.34e-20 |
SMART |
|
CA
|
252 |
333 |
1.52e-24 |
SMART |
|
CA
|
357 |
438 |
9.22e-24 |
SMART |
|
CA
|
462 |
548 |
1.24e-24 |
SMART |
|
CA
|
579 |
660 |
1.3e-9 |
SMART |
|
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
918 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193404
|
| SMART Domains |
Protein: ENSMUSP00000141359
Gene: ENSMUSG00000102222
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
43 |
129 |
2.76e-2 |
SMART |
|
CA
|
153 |
238 |
1.16e-20 |
SMART |
|
CA
|
262 |
343 |
1.25e-25 |
SMART |
|
CA
|
367 |
448 |
4.75e-26 |
SMART |
|
CA
|
472 |
558 |
3.69e-23 |
SMART |
|
CA
|
589 |
667 |
3.84e-12 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195764
AA Change: N754Y
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
AA Change: N754Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
57 |
132 |
1.5e-4 |
SMART |
|
CA
|
156 |
241 |
1.2e-20 |
SMART |
|
CA
|
265 |
346 |
7.8e-29 |
SMART |
|
CA
|
370 |
451 |
1.7e-26 |
SMART |
|
CA
|
475 |
561 |
2.2e-26 |
SMART |
|
CA
|
592 |
673 |
6.4e-12 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
911 |
930 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208907
AA Change: N754Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195112
|
| SMART Domains |
Protein: ENSMUSP00000141449
Gene: ENSMUSG00000102748
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
24 |
130 |
8.18e-3 |
SMART |
|
CA
|
154 |
239 |
1.39e-18 |
SMART |
|
CA
|
263 |
344 |
7.91e-23 |
SMART |
|
CA
|
368 |
449 |
2.27e-23 |
SMART |
|
CA
|
473 |
559 |
1.24e-24 |
SMART |
|
CA
|
590 |
671 |
1.3e-9 |
SMART |
|
transmembrane domain
|
690 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
928 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195823
|
| SMART Domains |
Protein: ENSMUSP00000141803
Gene: ENSMUSG00000103793
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
CA
|
45 |
131 |
2.41e-2 |
SMART |
|
CA
|
155 |
240 |
5.77e-16 |
SMART |
|
CA
|
264 |
345 |
1.1e-21 |
SMART |
|
CA
|
369 |
450 |
2.75e-22 |
SMART |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
CA
|
474 |
560 |
9.22e-24 |
SMART |
|
CA
|
591 |
669 |
2.4e-13 |
SMART |
|
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
932 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195363
|
| SMART Domains |
Protein: ENSMUSP00000142227
Gene: ENSMUSG00000103585
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
25 |
N/A |
INTRINSIC |
|
CA
|
56 |
131 |
1.47e-2 |
SMART |
|
CA
|
155 |
240 |
1.23e-19 |
SMART |
|
CA
|
264 |
343 |
5.54e-27 |
SMART |
|
CA
|
367 |
448 |
5.09e-26 |
SMART |
|
CA
|
472 |
558 |
1.98e-23 |
SMART |
|
CA
|
589 |
670 |
1.3e-9 |
SMART |
|
transmembrane domain
|
689 |
711 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
912 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
| Validation Efficiency |
97% (111/114) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,658,996 (GRCm39) |
V2783I |
probably benign |
Het |
| Ago4 |
A |
C |
4: 126,400,635 (GRCm39) |
C693G |
probably damaging |
Het |
| Apobec2 |
T |
C |
17: 48,730,153 (GRCm39) |
E171G |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,492,638 (GRCm39) |
I1258F |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,227,556 (GRCm39) |
E434G |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,220,806 (GRCm39) |
D324G |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,191,713 (GRCm39) |
V1422E |
probably damaging |
Het |
| Bfsp1 |
C |
T |
2: 143,669,391 (GRCm39) |
R396Q |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,156,026 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
T |
A |
1: 136,029,302 (GRCm39) |
|
probably null |
Het |
| Casp8 |
T |
C |
1: 58,866,377 (GRCm39) |
F126S |
probably damaging |
Het |
| Cdh26 |
T |
C |
2: 178,091,614 (GRCm39) |
S58P |
probably benign |
Het |
| Cds2 |
A |
G |
2: 132,140,398 (GRCm39) |
T182A |
probably damaging |
Het |
| Cfap157 |
C |
T |
2: 32,669,965 (GRCm39) |
R206H |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,795,532 (GRCm39) |
G1529E |
unknown |
Het |
| Crybg3 |
A |
G |
16: 59,350,782 (GRCm39) |
F2567L |
probably benign |
Het |
| Cyp2e1 |
T |
C |
7: 140,354,527 (GRCm39) |
S393P |
possibly damaging |
Het |
| D5Ertd579e |
A |
G |
5: 36,773,160 (GRCm39) |
Y412H |
probably damaging |
Het |
| Dclk2 |
A |
T |
3: 86,732,049 (GRCm39) |
|
probably null |
Het |
| Ddx50 |
A |
T |
10: 62,463,450 (GRCm39) |
C414* |
probably null |
Het |
| Dip2c |
T |
A |
13: 9,671,905 (GRCm39) |
|
probably null |
Het |
| Dmtn |
G |
T |
14: 70,843,159 (GRCm39) |
P283Q |
probably damaging |
Het |
| Dspp |
C |
A |
5: 104,325,789 (GRCm39) |
D717E |
unknown |
Het |
| Efcab11 |
T |
C |
12: 99,685,321 (GRCm39) |
D151G |
probably damaging |
Het |
| Egfem1 |
T |
C |
3: 29,206,042 (GRCm39) |
V93A |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,096,592 (GRCm39) |
D299G |
probably benign |
Het |
| Erlec1 |
A |
G |
11: 30,884,710 (GRCm39) |
Y448H |
possibly damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,873,220 (GRCm39) |
K1287E |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,634,968 (GRCm39) |
|
probably null |
Het |
| Fut8 |
G |
T |
12: 77,521,818 (GRCm39) |
A486S |
probably damaging |
Het |
| Gfra1 |
A |
T |
19: 58,255,522 (GRCm39) |
S308R |
probably damaging |
Het |
| Gm10764 |
A |
G |
10: 87,126,579 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5958 |
C |
A |
14: 100,073,189 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6788 |
C |
T |
19: 28,740,664 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdmd |
A |
G |
15: 75,736,241 (GRCm39) |
I123M |
probably benign |
Het |
| H2bc13 |
A |
T |
13: 21,900,189 (GRCm39) |
V42E |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 105,999,367 (GRCm39) |
E235G |
probably benign |
Het |
| Ighv1-83 |
T |
C |
12: 115,927,580 (GRCm39) |
I57V |
probably benign |
Het |
| Inhca |
A |
C |
9: 103,129,054 (GRCm39) |
Y235* |
probably null |
Het |
| Inpp5f |
A |
T |
7: 128,286,840 (GRCm39) |
D573V |
probably damaging |
Het |
| Kcnj1 |
T |
A |
9: 32,308,056 (GRCm39) |
L160Q |
probably damaging |
Het |
| Kcnmb3 |
A |
T |
3: 32,526,653 (GRCm39) |
C179* |
probably null |
Het |
| Lrig1 |
A |
G |
6: 94,586,700 (GRCm39) |
F659L |
probably damaging |
Het |
| Lrrc3 |
T |
C |
10: 77,737,253 (GRCm39) |
D61G |
probably benign |
Het |
| Marchf4 |
T |
G |
1: 72,467,938 (GRCm39) |
S365R |
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,051,703 (GRCm39) |
L32S |
probably benign |
Het |
| Mei4 |
A |
G |
9: 81,772,216 (GRCm39) |
T10A |
probably benign |
Het |
| Meis1 |
T |
C |
11: 18,959,222 (GRCm39) |
|
probably benign |
Het |
| Mllt1 |
T |
C |
17: 57,206,813 (GRCm39) |
T344A |
probably benign |
Het |
| Mmp11 |
C |
T |
10: 75,761,419 (GRCm39) |
A31T |
probably damaging |
Het |
| Mrps28 |
A |
G |
3: 8,947,614 (GRCm39) |
|
probably benign |
Het |
| Mthfsl |
A |
C |
9: 88,597,550 (GRCm39) |
L67V |
probably damaging |
Het |
| Ncaph2 |
A |
G |
15: 89,244,574 (GRCm39) |
I11V |
probably damaging |
Het |
| Ncdn |
G |
A |
4: 126,643,731 (GRCm39) |
L364F |
possibly damaging |
Het |
| Nfat5 |
T |
A |
8: 108,051,284 (GRCm39) |
D47E |
probably damaging |
Het |
| Or51g2 |
A |
T |
7: 102,622,614 (GRCm39) |
I195N |
possibly damaging |
Het |
| Or5b106 |
T |
A |
19: 13,123,355 (GRCm39) |
I223L |
possibly damaging |
Het |
| Or5bw2 |
C |
T |
7: 6,573,643 (GRCm39) |
L218F |
possibly damaging |
Het |
| Pcdhb3 |
A |
T |
18: 37,435,452 (GRCm39) |
I473F |
probably damaging |
Het |
| Pgbd5 |
C |
A |
8: 125,097,305 (GRCm39) |
K408N |
probably benign |
Het |
| Pnisr |
A |
G |
4: 21,859,330 (GRCm39) |
|
probably benign |
Het |
| Poldip3 |
A |
T |
15: 83,016,776 (GRCm39) |
|
probably null |
Het |
| Ppfia2 |
G |
C |
10: 106,597,978 (GRCm39) |
L180F |
probably damaging |
Het |
| Psmc3 |
A |
G |
2: 90,896,317 (GRCm39) |
|
probably benign |
Het |
| Rab3gap1 |
T |
A |
1: 127,816,914 (GRCm39) |
W58R |
possibly damaging |
Het |
| Rere |
T |
A |
4: 150,703,601 (GRCm39) |
W1528R |
probably damaging |
Het |
| Rhot1 |
A |
G |
11: 80,100,027 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,311,612 (GRCm39) |
S781P |
probably damaging |
Het |
| Rtraf |
T |
C |
14: 19,873,784 (GRCm39) |
K5R |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,609,872 (GRCm39) |
V753A |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,661,530 (GRCm39) |
H1820R |
probably damaging |
Het |
| Schip1 |
A |
T |
3: 68,315,818 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
A |
12: 40,119,373 (GRCm39) |
I552F |
possibly damaging |
Het |
| Selp |
A |
C |
1: 163,972,475 (GRCm39) |
T705P |
probably damaging |
Het |
| Sh3rf3 |
A |
T |
10: 58,842,925 (GRCm39) |
D297V |
probably damaging |
Het |
| Slc24a4 |
T |
A |
12: 102,231,203 (GRCm39) |
|
probably null |
Het |
| Slc2a9 |
C |
A |
5: 38,574,603 (GRCm39) |
L224F |
probably benign |
Het |
| Slc35e2 |
C |
A |
4: 155,700,693 (GRCm39) |
P272Q |
probably damaging |
Het |
| Slf2 |
T |
G |
19: 44,960,100 (GRCm39) |
D1022E |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 5,007,909 (GRCm39) |
C7932Y |
probably damaging |
Het |
| Tc2n |
A |
G |
12: 101,631,954 (GRCm39) |
L301P |
probably damaging |
Het |
| Tchhl1 |
A |
G |
3: 93,377,623 (GRCm39) |
D109G |
possibly damaging |
Het |
| Thoc7 |
T |
C |
14: 13,953,154 (GRCm38) |
I83V |
probably damaging |
Het |
| Tm4sf1 |
C |
T |
3: 57,200,448 (GRCm39) |
G85S |
probably damaging |
Het |
| Tmem63a |
T |
A |
1: 180,794,086 (GRCm39) |
I541N |
probably benign |
Het |
| Tmpo |
A |
G |
10: 90,985,411 (GRCm39) |
V357A |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,685,709 (GRCm39) |
Y2278H |
possibly damaging |
Het |
| Vmn1r26 |
A |
G |
6: 57,985,808 (GRCm39) |
F127S |
probably damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,945,264 (GRCm39) |
M781K |
probably damaging |
Het |
| Vps36 |
T |
G |
8: 22,708,280 (GRCm39) |
M348R |
possibly damaging |
Het |
| Vps45 |
T |
C |
3: 95,926,943 (GRCm39) |
T535A |
probably damaging |
Het |
|
| Other mutations in Pcdhgb8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01093:Pcdhgb8
|
APN |
18 |
37,958,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0011:Pcdhgb8
|
UTSW |
18 |
37,897,335 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2763:Pcdhgb8
|
UTSW |
18 |
37,895,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3797:Pcdhgb8
|
UTSW |
18 |
37,895,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3926:Pcdhgb8
|
UTSW |
18 |
37,895,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4012:Pcdhgb8
|
UTSW |
18 |
37,896,414 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4167:Pcdhgb8
|
UTSW |
18 |
37,895,596 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4183:Pcdhgb8
|
UTSW |
18 |
37,896,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4190:Pcdhgb8
|
UTSW |
18 |
37,896,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4191:Pcdhgb8
|
UTSW |
18 |
37,896,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4192:Pcdhgb8
|
UTSW |
18 |
37,896,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Pcdhgb8
|
UTSW |
18 |
37,896,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4441:Pcdhgb8
|
UTSW |
18 |
37,896,114 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4585:Pcdhgb8
|
UTSW |
18 |
37,895,413 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4762:Pcdhgb8
|
UTSW |
18 |
37,895,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Pcdhgb8
|
UTSW |
18 |
37,895,289 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5992:Pcdhgb8
|
UTSW |
18 |
37,896,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Pcdhgb8
|
UTSW |
18 |
37,895,601 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6034:Pcdhgb8
|
UTSW |
18 |
37,895,601 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6346:Pcdhgb8
|
UTSW |
18 |
37,895,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6800:Pcdhgb8
|
UTSW |
18 |
37,896,580 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6833:Pcdhgb8
|
UTSW |
18 |
37,895,142 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6834:Pcdhgb8
|
UTSW |
18 |
37,895,142 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7032:Pcdhgb8
|
UTSW |
18 |
37,896,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7035:Pcdhgb8
|
UTSW |
18 |
37,896,201 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7145:Pcdhgb8
|
UTSW |
18 |
37,896,050 (GRCm39) |
nonsense |
probably null |
|
|
R7165:Pcdhgb8
|
UTSW |
18 |
37,896,231 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7240:Pcdhgb8
|
UTSW |
18 |
37,896,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7314:Pcdhgb8
|
UTSW |
18 |
37,896,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7463:Pcdhgb8
|
UTSW |
18 |
37,896,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7922:Pcdhgb8
|
UTSW |
18 |
37,897,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8052:Pcdhgb8
|
UTSW |
18 |
37,896,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8477:Pcdhgb8
|
UTSW |
18 |
37,896,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8826:Pcdhgb8
|
UTSW |
18 |
37,895,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8885:Pcdhgb8
|
UTSW |
18 |
37,896,177 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9095:Pcdhgb8
|
UTSW |
18 |
37,896,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTGTCTGACTCCCAAAGTG -3'
(R):5'- AAGGCTAATTGAAACTCACGTG -3'
Sequencing Primer
(F):5'- CCAAAGTGAGCTTCAGTTTTACCTGG -3'
(R):5'- GGCTAATTGAAACTCACGTGATTAG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation