Incidental Mutation 'R8826:Pcdhgb8'
| ID |
673505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhgb8
|
| Ensembl Gene |
ENSMUSG00000103081 |
| Gene Name |
protocadherin gamma subfamily B, 8 |
| Synonyms |
|
| MMRRC Submission |
068729-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R8826 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37894854-37973542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37895301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 124
(I124L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003599]
[ENSMUST00000044851]
[ENSMUST00000061279]
[ENSMUST00000066149]
[ENSMUST00000073447]
[ENSMUST00000091935]
[ENSMUST00000115661]
[ENSMUST00000192511]
[ENSMUST00000192535]
[ENSMUST00000192931]
[ENSMUST00000193404]
[ENSMUST00000193414]
[ENSMUST00000193869]
[ENSMUST00000194190]
[ENSMUST00000194418]
[ENSMUST00000194544]
[ENSMUST00000194928]
[ENSMUST00000195112]
[ENSMUST00000195363]
[ENSMUST00000195764]
[ENSMUST00000208907]
[ENSMUST00000195823]
|
| 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 |
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: 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: 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: 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 |
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: 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: ENSMUST00000193984
|
| 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: 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: 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: 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: 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 |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000142272
Gene: ENSMUSG00000103081
AA Change: I124L
| 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: I124L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (91/91) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta1 |
T |
C |
8: 124,619,978 (GRCm39) |
M121V |
probably damaging |
Het |
| AI987944 |
A |
T |
7: 41,024,627 (GRCm39) |
H120Q |
possibly damaging |
Het |
| Aldh9a1 |
C |
G |
1: 167,184,119 (GRCm39) |
P205A |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,740,951 (GRCm39) |
N1644K |
unknown |
Het |
| Arfgef2 |
A |
T |
2: 166,677,386 (GRCm39) |
|
probably benign |
Het |
| Bpifb4 |
G |
T |
2: 153,783,817 (GRCm39) |
V54L |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,711,836 (GRCm39) |
M456L |
|
Het |
| Cbln1 |
T |
C |
8: 88,198,420 (GRCm39) |
N95S |
probably benign |
Het |
| Ccl11 |
G |
T |
11: 81,953,044 (GRCm39) |
R67S |
possibly damaging |
Het |
| Cd200 |
G |
A |
16: 45,215,157 (GRCm39) |
R165C |
probably benign |
Het |
| Cd2bp2 |
A |
T |
7: 126,793,257 (GRCm39) |
M283K |
probably damaging |
Het |
| Cd86 |
G |
T |
16: 36,435,650 (GRCm39) |
L256I |
possibly damaging |
Het |
| Ces2f |
T |
A |
8: 105,679,734 (GRCm39) |
F409Y |
probably benign |
Het |
| Cisd3 |
A |
T |
11: 97,579,158 (GRCm39) |
Q100L |
probably damaging |
Het |
| Cntnap1 |
C |
T |
11: 101,077,655 (GRCm39) |
R1106C |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,439,433 (GRCm39) |
M777K |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,039,739 (GRCm39) |
Y852C |
probably damaging |
Het |
| Ddx1 |
T |
C |
12: 13,277,332 (GRCm39) |
E523G |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 62,398,990 (GRCm39) |
D236E |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,740,742 (GRCm39) |
F4148Y |
probably benign |
Het |
| Dusp6 |
G |
T |
10: 99,099,469 (GRCm39) |
|
probably benign |
Het |
| Eif2a |
C |
A |
3: 58,456,049 (GRCm39) |
Y349* |
probably null |
Het |
| Enpep |
G |
A |
3: 129,065,067 (GRCm39) |
T874I |
probably damaging |
Het |
| Eps15 |
A |
G |
4: 109,169,505 (GRCm39) |
D105G |
possibly damaging |
Het |
| Ess2 |
A |
T |
16: 17,722,954 (GRCm39) |
M320K |
probably damaging |
Het |
| Exosc10 |
G |
A |
4: 148,653,159 (GRCm39) |
|
probably null |
Het |
| Fam13b |
A |
T |
18: 34,631,070 (GRCm39) |
N36K |
probably damaging |
Het |
| Fanca |
T |
C |
8: 123,995,209 (GRCm39) |
D1431G |
probably benign |
Het |
| Fgg |
A |
G |
3: 82,921,625 (GRCm39) |
D436G |
probably benign |
Het |
| Fip1l1 |
C |
T |
5: 74,725,188 (GRCm39) |
T251I |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,032,347 (GRCm39) |
N104S |
probably damaging |
Het |
| Gmip |
T |
C |
8: 70,268,748 (GRCm39) |
S458P |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,756,144 (GRCm39) |
D728G |
probably benign |
Het |
| Hif3a |
A |
G |
7: 16,788,671 (GRCm39) |
L100P |
probably damaging |
Het |
| Hmox2 |
C |
G |
16: 4,583,866 (GRCm39) |
P282R |
possibly damaging |
Het |
| Hook1 |
A |
T |
4: 95,880,432 (GRCm39) |
H90L |
probably benign |
Het |
| Igf2bp2 |
C |
A |
16: 21,883,866 (GRCm39) |
G473C |
probably damaging |
Het |
| Ip6k2 |
T |
C |
9: 108,675,379 (GRCm39) |
|
probably null |
Het |
| Ipo5 |
G |
T |
14: 121,157,366 (GRCm39) |
R68L |
probably damaging |
Het |
| Kif19b |
A |
G |
5: 140,455,434 (GRCm39) |
M347V |
probably damaging |
Het |
| Klhdc1 |
G |
T |
12: 69,305,392 (GRCm39) |
W234L |
probably damaging |
Het |
| Krt8 |
A |
G |
15: 101,909,870 (GRCm39) |
V178A |
possibly damaging |
Het |
| Lgi3 |
T |
A |
14: 70,768,712 (GRCm39) |
|
probably null |
Het |
| Litaf |
T |
G |
16: 10,784,421 (GRCm39) |
N30H |
probably benign |
Het |
| Lman2 |
C |
A |
13: 55,510,368 (GRCm39) |
W12L |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,276,022 (GRCm39) |
L6182P |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,992,662 (GRCm39) |
M270K |
probably benign |
Het |
| Mapre2 |
A |
T |
18: 23,886,888 (GRCm39) |
|
probably benign |
Het |
| Minar1 |
T |
A |
9: 89,483,234 (GRCm39) |
E721V |
probably damaging |
Het |
| Mllt10 |
T |
A |
2: 18,167,353 (GRCm39) |
V426D |
probably benign |
Het |
| Mrgprf |
A |
G |
7: 144,862,046 (GRCm39) |
I203V |
probably benign |
Het |
| Mrnip |
G |
A |
11: 50,067,688 (GRCm39) |
C27Y |
probably damaging |
Het |
| Mrpl24 |
C |
T |
3: 87,829,701 (GRCm39) |
R96* |
probably null |
Het |
| Nbas |
T |
A |
12: 13,402,875 (GRCm39) |
|
probably benign |
Het |
| Nipal4 |
G |
A |
11: 46,045,470 (GRCm39) |
T131M |
possibly damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,289,621 (GRCm39) |
D297G |
possibly damaging |
Het |
| Nol6 |
A |
C |
4: 41,121,823 (GRCm39) |
M237R |
probably benign |
Het |
| Olig1 |
A |
G |
16: 91,067,027 (GRCm39) |
E88G |
probably benign |
Het |
| Or1j19 |
T |
A |
2: 36,676,855 (GRCm39) |
L106* |
probably null |
Het |
| Parg |
A |
G |
14: 31,931,175 (GRCm39) |
D265G |
possibly damaging |
Het |
| Pign |
A |
G |
1: 105,481,827 (GRCm39) |
F822L |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,071,140 (GRCm39) |
T1080A |
probably benign |
Het |
| Pld4 |
A |
T |
12: 112,733,210 (GRCm39) |
Y262F |
possibly damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,693,730 (GRCm39) |
V977A |
probably benign |
Het |
| Ppp6r3 |
C |
T |
19: 3,521,984 (GRCm39) |
E565K |
|
Het |
| Psmg2 |
A |
G |
18: 67,787,158 (GRCm39) |
|
probably benign |
Het |
| Ptcd3 |
C |
T |
6: 71,885,645 (GRCm39) |
G27D |
probably benign |
Het |
| Retreg2 |
G |
T |
1: 75,119,525 (GRCm39) |
G7C |
unknown |
Het |
| Rlbp1 |
A |
T |
7: 79,027,114 (GRCm39) |
F182Y |
probably benign |
Het |
| Rnf148 |
G |
C |
6: 23,654,378 (GRCm39) |
S206C |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,637,869 (GRCm39) |
M1T |
probably null |
Het |
| Shank3 |
A |
T |
15: 89,433,598 (GRCm39) |
T1448S |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,389,207 (GRCm39) |
K478E |
probably damaging |
Het |
| Slitrk6 |
A |
G |
14: 110,988,801 (GRCm39) |
I302T |
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,950,529 (GRCm39) |
V1165A |
probably damaging |
Het |
| Sncaip |
A |
T |
18: 53,048,381 (GRCm39) |
H939L |
probably benign |
Het |
| Stn1 |
T |
C |
19: 47,524,709 (GRCm39) |
D27G |
probably damaging |
Het |
| Sugct |
T |
G |
13: 17,427,180 (GRCm39) |
|
probably null |
Het |
| Tmem259 |
A |
G |
10: 79,814,983 (GRCm39) |
S214P |
probably damaging |
Het |
| Trdv4 |
G |
A |
14: 54,312,946 (GRCm39) |
G107S |
probably damaging |
Het |
| Ttc3 |
C |
T |
16: 94,232,829 (GRCm39) |
L957F |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,711,471 (GRCm39) |
Y8357H |
unknown |
Het |
| Twnk |
T |
C |
19: 44,996,434 (GRCm39) |
V289A |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,202,958 (GRCm39) |
D437G |
possibly damaging |
Het |
| Upf1 |
T |
C |
8: 70,790,930 (GRCm39) |
T590A |
probably benign |
Het |
| Vmn2r63 |
A |
T |
7: 42,576,441 (GRCm39) |
D457E |
probably benign |
Het |
| Wdr82 |
A |
T |
9: 106,061,975 (GRCm39) |
T213S |
probably benign |
Het |
| Zfp267 |
T |
C |
3: 36,218,255 (GRCm39) |
Y93H |
possibly damaging |
Het |
| Zfp672 |
A |
T |
11: 58,220,590 (GRCm39) |
M3K |
unknown |
Het |
| Zfyve26 |
A |
G |
12: 79,285,742 (GRCm39) |
V2345A |
probably benign |
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 |
|
R4917:Pcdhgb8
|
UTSW |
18 |
37,897,191 (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 |
|
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'- AAATCTCGCTGAGGACCTGG -3'
(R):5'- CACCAGAGAGAAGTGCTCATTC -3'
Sequencing Primer
(F):5'- GCCTGTTCAGGACTTACTGACAAG -3'
(R):5'- GAAGTGCTCATTCAAACTGAGTTGG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation