Incidental Mutation 'IGL03057:Pcdhb9'
| ID |
409254 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcdhb9
|
| Ensembl Gene |
ENSMUSG00000051242 |
| Gene Name |
protocadherin beta 9 |
| Synonyms |
Pcdhb4C, PcdhbI |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
IGL03057
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37533908-37536962 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37534330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 108
(Q108L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057228]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
E9Q5G2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057228
AA Change: Q108L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: Q108L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_2
|
65 |
147 |
2.3e-33 |
PFAM |
|
CA
|
190 |
275 |
1.28e-17 |
SMART |
|
CA
|
299 |
380 |
7.6e-25 |
SMART |
|
CA
|
403 |
484 |
5.81e-21 |
SMART |
|
CA
|
508 |
594 |
9.8e-28 |
SMART |
|
CA
|
624 |
705 |
1.86e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
722 |
805 |
2.3e-27 |
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: ENSMUST00000193984
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,488,754 (GRCm39) |
A1295V |
possibly damaging |
Het |
| Adgre4 |
T |
C |
17: 56,106,602 (GRCm39) |
|
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,851,493 (GRCm39) |
Y901N |
probably damaging |
Het |
| Bud31 |
A |
G |
5: 145,083,378 (GRCm39) |
T74A |
probably benign |
Het |
| C4b |
C |
A |
17: 34,956,738 (GRCm39) |
|
probably benign |
Het |
| Ccdc92 |
G |
A |
5: 124,912,753 (GRCm39) |
Q259* |
probably null |
Het |
| Ccn4 |
T |
C |
15: 66,763,489 (GRCm39) |
|
probably benign |
Het |
| Chfr |
C |
A |
5: 110,291,475 (GRCm39) |
Q98K |
probably benign |
Het |
| Ciita |
T |
A |
16: 10,338,823 (GRCm39) |
|
probably benign |
Het |
| Cnbd2 |
A |
T |
2: 156,209,592 (GRCm39) |
I512F |
possibly damaging |
Het |
| Cpa2 |
A |
G |
6: 30,557,726 (GRCm39) |
Y346C |
probably damaging |
Het |
| Cpxm1 |
A |
G |
2: 130,235,109 (GRCm39) |
L570P |
probably damaging |
Het |
| Cylc1 |
G |
A |
X: 110,166,370 (GRCm39) |
G217D |
unknown |
Het |
| Dennd2a |
T |
C |
6: 39,485,182 (GRCm39) |
I366V |
probably damaging |
Het |
| Dis3 |
A |
T |
14: 99,327,426 (GRCm39) |
M359K |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,545,088 (GRCm39) |
N848S |
probably damaging |
Het |
| Dyrk3 |
C |
T |
1: 131,056,815 (GRCm39) |
V453I |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,206,161 (GRCm39) |
E358G |
probably damaging |
Het |
| Fam167b |
C |
A |
4: 129,471,960 (GRCm39) |
C70F |
possibly damaging |
Het |
| Flt1 |
G |
T |
5: 147,618,734 (GRCm39) |
Y200* |
probably null |
Het |
| Garin4 |
A |
T |
1: 190,895,141 (GRCm39) |
S501T |
probably benign |
Het |
| Ggh |
T |
C |
4: 20,065,770 (GRCm39) |
V288A |
probably benign |
Het |
| Glb1l2 |
T |
C |
9: 26,717,586 (GRCm39) |
|
probably benign |
Het |
| Gm28042 |
A |
G |
2: 119,862,637 (GRCm39) |
Y302C |
probably damaging |
Het |
| Gsta2 |
A |
G |
9: 78,241,192 (GRCm39) |
|
probably benign |
Het |
| Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
| Irs4 |
A |
G |
X: 140,505,524 (GRCm39) |
S891P |
unknown |
Het |
| Kcmf1 |
G |
T |
6: 72,820,010 (GRCm39) |
R330S |
probably benign |
Het |
| Kif26a |
G |
T |
12: 112,142,208 (GRCm39) |
E821* |
probably null |
Het |
| L3mbtl1 |
A |
G |
2: 162,809,303 (GRCm39) |
E670G |
probably damaging |
Het |
| Met |
A |
T |
6: 17,558,765 (GRCm39) |
D1131V |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,785,342 (GRCm39) |
E1428G |
probably damaging |
Het |
| Odf2 |
A |
G |
2: 29,813,657 (GRCm39) |
|
probably benign |
Het |
| Ogfod1 |
T |
A |
8: 94,782,766 (GRCm39) |
L294H |
possibly damaging |
Het |
| Or8d1b |
G |
T |
9: 38,887,514 (GRCm39) |
V181F |
probably benign |
Het |
| Pcdhb20 |
A |
T |
18: 37,637,851 (GRCm39) |
I126L |
possibly damaging |
Het |
| Prdm10 |
G |
T |
9: 31,260,481 (GRCm39) |
R645L |
probably damaging |
Het |
| Psmb11 |
T |
A |
14: 54,863,236 (GRCm39) |
C151* |
probably null |
Het |
| Reep1 |
T |
A |
6: 71,784,765 (GRCm39) |
|
probably benign |
Het |
| Reg3a |
G |
A |
6: 78,358,939 (GRCm39) |
A46T |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,331,913 (GRCm39) |
I2374N |
probably damaging |
Het |
| Slc17a7 |
T |
C |
7: 44,820,363 (GRCm39) |
Y273H |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 74,826,260 (GRCm39) |
Y238* |
probably null |
Het |
| Sorcs1 |
T |
A |
19: 50,248,194 (GRCm39) |
K411* |
probably null |
Het |
| Spta1 |
G |
T |
1: 174,008,624 (GRCm39) |
A243S |
probably benign |
Het |
| Tas2r135 |
A |
T |
6: 42,378,061 (GRCm39) |
|
probably benign |
Het |
| Tbx18 |
T |
C |
9: 87,612,882 (GRCm39) |
R6G |
probably damaging |
Het |
| Timp3 |
A |
G |
10: 86,136,815 (GRCm39) |
D33G |
possibly damaging |
Het |
| Ttf1 |
A |
G |
2: 28,961,357 (GRCm39) |
K582E |
probably damaging |
Het |
| Ubr5 |
C |
A |
15: 38,041,150 (GRCm39) |
|
probably benign |
Het |
| Ugt2b1 |
A |
G |
5: 87,074,200 (GRCm39) |
V53A |
possibly damaging |
Het |
| Ush2a |
G |
T |
1: 188,530,035 (GRCm39) |
G3275W |
probably damaging |
Het |
| Usp19 |
G |
A |
9: 108,376,329 (GRCm39) |
V1023M |
probably benign |
Het |
| Usp26 |
T |
C |
X: 50,846,135 (GRCm39) |
I47V |
possibly damaging |
Het |
| Vapa |
A |
G |
17: 65,901,902 (GRCm39) |
V76A |
probably damaging |
Het |
| Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,646,058 (GRCm39) |
N1993S |
probably damaging |
Het |
| Wdr59 |
G |
A |
8: 112,202,750 (GRCm39) |
R598C |
probably damaging |
Het |
|
| Other mutations in Pcdhb9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Pcdhb9
|
APN |
18 |
37,536,332 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01557:Pcdhb9
|
APN |
18 |
37,536,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01716:Pcdhb9
|
APN |
18 |
37,536,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01954:Pcdhb9
|
APN |
18 |
37,534,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02063:Pcdhb9
|
APN |
18 |
37,534,810 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0140:Pcdhb9
|
UTSW |
18 |
37,536,014 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0180:Pcdhb9
|
UTSW |
18 |
37,535,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0349:Pcdhb9
|
UTSW |
18 |
37,535,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0616:Pcdhb9
|
UTSW |
18 |
37,535,028 (GRCm39) |
nonsense |
probably null |
|
|
R0669:Pcdhb9
|
UTSW |
18 |
37,535,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1256:Pcdhb9
|
UTSW |
18 |
37,536,169 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1642:Pcdhb9
|
UTSW |
18 |
37,533,987 (GRCm39) |
intron |
probably benign |
|
|
R1678:Pcdhb9
|
UTSW |
18 |
37,534,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Pcdhb9
|
UTSW |
18 |
37,536,380 (GRCm39) |
nonsense |
probably null |
|
|
R1762:Pcdhb9
|
UTSW |
18 |
37,536,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1823:Pcdhb9
|
UTSW |
18 |
37,535,871 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1868:Pcdhb9
|
UTSW |
18 |
37,535,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Pcdhb9
|
UTSW |
18 |
37,536,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2446:Pcdhb9
|
UTSW |
18 |
37,536,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2889:Pcdhb9
|
UTSW |
18 |
37,536,276 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2890:Pcdhb9
|
UTSW |
18 |
37,536,379 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3196:Pcdhb9
|
UTSW |
18 |
37,534,663 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3725:Pcdhb9
|
UTSW |
18 |
37,534,654 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3726:Pcdhb9
|
UTSW |
18 |
37,534,654 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4179:Pcdhb9
|
UTSW |
18 |
37,534,168 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4326:Pcdhb9
|
UTSW |
18 |
37,534,876 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4326:Pcdhb9
|
UTSW |
18 |
37,534,875 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4327:Pcdhb9
|
UTSW |
18 |
37,534,876 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4327:Pcdhb9
|
UTSW |
18 |
37,534,875 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4329:Pcdhb9
|
UTSW |
18 |
37,534,876 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4329:Pcdhb9
|
UTSW |
18 |
37,534,875 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4626:Pcdhb9
|
UTSW |
18 |
37,535,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4738:Pcdhb9
|
UTSW |
18 |
37,536,468 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4888:Pcdhb9
|
UTSW |
18 |
37,536,286 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5140:Pcdhb9
|
UTSW |
18 |
37,534,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5186:Pcdhb9
|
UTSW |
18 |
37,534,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5502:Pcdhb9
|
UTSW |
18 |
37,534,656 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5586:Pcdhb9
|
UTSW |
18 |
37,534,167 (GRCm39) |
missense |
probably benign |
|
|
R5601:Pcdhb9
|
UTSW |
18 |
37,535,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5624:Pcdhb9
|
UTSW |
18 |
37,534,459 (GRCm39) |
missense |
probably benign |
|
|
R5827:Pcdhb9
|
UTSW |
18 |
37,535,011 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5829:Pcdhb9
|
UTSW |
18 |
37,534,942 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5837:Pcdhb9
|
UTSW |
18 |
37,535,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6147:Pcdhb9
|
UTSW |
18 |
37,535,494 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6228:Pcdhb9
|
UTSW |
18 |
37,535,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6245:Pcdhb9
|
UTSW |
18 |
37,536,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6304:Pcdhb9
|
UTSW |
18 |
37,534,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6542:Pcdhb9
|
UTSW |
18 |
37,534,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6904:Pcdhb9
|
UTSW |
18 |
37,534,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7058:Pcdhb9
|
UTSW |
18 |
37,536,334 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7159:Pcdhb9
|
UTSW |
18 |
37,534,545 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7258:Pcdhb9
|
UTSW |
18 |
37,535,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7800:Pcdhb9
|
UTSW |
18 |
37,534,602 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8027:Pcdhb9
|
UTSW |
18 |
37,536,069 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8141:Pcdhb9
|
UTSW |
18 |
37,535,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Pcdhb9
|
UTSW |
18 |
37,536,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8729:Pcdhb9
|
UTSW |
18 |
37,535,639 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8748:Pcdhb9
|
UTSW |
18 |
37,535,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Pcdhb9
|
UTSW |
18 |
37,534,468 (GRCm39) |
missense |
probably benign |
|
|
R9083:Pcdhb9
|
UTSW |
18 |
37,535,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Pcdhb9
|
UTSW |
18 |
37,534,665 (GRCm39) |
missense |
probably benign |
|
|
R9779:Pcdhb9
|
UTSW |
18 |
37,535,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation