Incidental Mutation 'IGL00264:Pcdhb8'
| ID |
3351 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcdhb8
|
| Ensembl Gene |
ENSMUSG00000045876 |
| Gene Name |
protocadherin beta 8 |
| Synonyms |
PcdhbH, Pcdhb5C |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL00264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
37488324-37490663 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37488526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 68
(H68L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051163]
[ENSMUST00000115661]
[ENSMUST00000192867]
[ENSMUST00000194544]
|
| AlphaFold |
Q91XZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051163
AA Change: H68L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000054371
Gene: ENSMUSG00000045876
AA Change: H68L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cadherin_2
|
30 |
112 |
6.6e-33 |
PFAM |
|
CA
|
155 |
240 |
7.79e-22 |
SMART |
|
CA
|
264 |
344 |
3.02e-28 |
SMART |
|
CA
|
367 |
448 |
1.14e-23 |
SMART |
|
CA
|
472 |
558 |
9.51e-26 |
SMART |
|
CA
|
588 |
669 |
5.65e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
685 |
768 |
1.1e-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: ENSMUST00000192867
|
| SMART Domains |
Protein: ENSMUSP00000141814
Gene: ENSMUSG00000045876
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
26 |
104 |
7e-18 |
SMART |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
T |
G |
1: 125,324,966 (GRCm39) |
I319L |
probably benign |
Het |
| Akap7 |
C |
T |
10: 25,047,138 (GRCm39) |
D20N |
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,741,934 (GRCm39) |
S1070T |
probably benign |
Het |
| Arhgef9 |
T |
C |
X: 94,125,237 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
G |
10: 50,590,531 (GRCm39) |
V1083G |
probably damaging |
Het |
| Asns |
T |
A |
6: 7,680,179 (GRCm39) |
E312D |
probably damaging |
Het |
| Bpifc |
A |
C |
10: 85,796,392 (GRCm39) |
V472G |
possibly damaging |
Het |
| Ccdc71 |
T |
A |
9: 108,340,237 (GRCm39) |
S17T |
probably damaging |
Het |
| Cebpzos |
T |
C |
17: 79,225,777 (GRCm39) |
|
probably benign |
Het |
| Cfi |
T |
C |
3: 129,666,744 (GRCm39) |
I489T |
probably damaging |
Het |
| Chrm2 |
T |
A |
6: 36,500,326 (GRCm39) |
F61Y |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,237,863 (GRCm39) |
Y149C |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,720 (GRCm39) |
I246T |
probably benign |
Het |
| Ereg |
C |
A |
5: 91,222,638 (GRCm39) |
S7Y |
probably benign |
Het |
| Ghsr |
T |
A |
3: 27,429,022 (GRCm39) |
L349Q |
possibly damaging |
Het |
| Gm10754 |
A |
G |
10: 97,518,274 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
T |
14: 5,864,475 (GRCm38) |
L29H |
probably benign |
Het |
| Hexim2 |
A |
G |
11: 103,029,281 (GRCm39) |
E111G |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,128,899 (GRCm39) |
N586K |
possibly damaging |
Het |
| Kat6b |
A |
G |
14: 21,718,627 (GRCm39) |
D1102G |
probably benign |
Het |
| Kif27 |
A |
T |
13: 58,485,418 (GRCm39) |
M514K |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,428,616 (GRCm39) |
I660T |
probably damaging |
Het |
| Mki67 |
C |
A |
7: 135,309,549 (GRCm39) |
G301* |
probably null |
Het |
| Or13a25 |
T |
A |
7: 140,247,854 (GRCm39) |
I211N |
probably benign |
Het |
| Or1l4b |
T |
C |
2: 37,037,079 (GRCm39) |
F285S |
probably damaging |
Het |
| Or5b121 |
A |
C |
19: 13,507,214 (GRCm39) |
Y103S |
probably damaging |
Het |
| Or5b99 |
A |
G |
19: 12,976,683 (GRCm39) |
Y111C |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,354,425 (GRCm39) |
V272A |
possibly damaging |
Het |
| Pstpip2 |
T |
C |
18: 77,959,259 (GRCm39) |
|
probably benign |
Het |
| Rdh14 |
G |
T |
12: 10,441,134 (GRCm39) |
G99W |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,312,276 (GRCm39) |
V172A |
probably benign |
Het |
| Sra1 |
A |
T |
18: 36,801,792 (GRCm39) |
S99R |
probably benign |
Het |
| Tbrg1 |
G |
T |
9: 37,562,337 (GRCm39) |
N280K |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,708,285 (GRCm39) |
|
probably null |
Het |
| Usp40 |
A |
T |
1: 87,931,960 (GRCm39) |
|
probably benign |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,646 (GRCm39) |
Y108F |
probably damaging |
Het |
| Zfp521 |
A |
G |
18: 13,979,559 (GRCm39) |
Y285H |
probably benign |
Het |
|
| Other mutations in Pcdhb8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00574:Pcdhb8
|
APN |
18 |
37,489,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00960:Pcdhb8
|
APN |
18 |
37,489,026 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01103:Pcdhb8
|
APN |
18 |
37,490,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01330:Pcdhb8
|
APN |
18 |
37,490,631 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01413:Pcdhb8
|
APN |
18 |
37,489,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01418:Pcdhb8
|
APN |
18 |
37,489,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01608:Pcdhb8
|
APN |
18 |
37,489,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02212:Pcdhb8
|
APN |
18 |
37,489,465 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02582:Pcdhb8
|
APN |
18 |
37,488,427 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02607:Pcdhb8
|
APN |
18 |
37,490,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02882:Pcdhb8
|
APN |
18 |
37,489,276 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03005:Pcdhb8
|
APN |
18 |
37,490,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03108:Pcdhb8
|
APN |
18 |
37,490,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Pcdhb8
|
UTSW |
18 |
37,489,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0104:Pcdhb8
|
UTSW |
18 |
37,488,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0490:Pcdhb8
|
UTSW |
18 |
37,489,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Pcdhb8
|
UTSW |
18 |
37,490,100 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1168:Pcdhb8
|
UTSW |
18 |
37,489,780 (GRCm39) |
missense |
probably benign |
|
|
R1189:Pcdhb8
|
UTSW |
18 |
37,489,620 (GRCm39) |
nonsense |
probably null |
|
|
R1232:Pcdhb8
|
UTSW |
18 |
37,488,828 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1503:Pcdhb8
|
UTSW |
18 |
37,489,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1576:Pcdhb8
|
UTSW |
18 |
37,489,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Pcdhb8
|
UTSW |
18 |
37,488,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1908:Pcdhb8
|
UTSW |
18 |
37,489,015 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1909:Pcdhb8
|
UTSW |
18 |
37,489,015 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2215:Pcdhb8
|
UTSW |
18 |
37,490,127 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3080:Pcdhb8
|
UTSW |
18 |
37,489,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4394:Pcdhb8
|
UTSW |
18 |
37,489,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Pcdhb8
|
UTSW |
18 |
37,488,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4845:Pcdhb8
|
UTSW |
18 |
37,489,771 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4879:Pcdhb8
|
UTSW |
18 |
37,489,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Pcdhb8
|
UTSW |
18 |
37,489,059 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5086:Pcdhb8
|
UTSW |
18 |
37,489,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Pcdhb8
|
UTSW |
18 |
37,490,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Pcdhb8
|
UTSW |
18 |
37,489,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5898:Pcdhb8
|
UTSW |
18 |
37,490,537 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5935:Pcdhb8
|
UTSW |
18 |
37,489,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Pcdhb8
|
UTSW |
18 |
37,489,279 (GRCm39) |
missense |
probably benign |
|
|
R6228:Pcdhb8
|
UTSW |
18 |
37,490,037 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6245:Pcdhb8
|
UTSW |
18 |
37,490,222 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6397:Pcdhb8
|
UTSW |
18 |
37,488,516 (GRCm39) |
nonsense |
probably null |
|
|
R7469:Pcdhb8
|
UTSW |
18 |
37,489,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Pcdhb8
|
UTSW |
18 |
37,488,648 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8323:Pcdhb8
|
UTSW |
18 |
37,488,476 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8735:Pcdhb8
|
UTSW |
18 |
37,489,975 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8841:Pcdhb8
|
UTSW |
18 |
37,488,699 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8856:Pcdhb8
|
UTSW |
18 |
37,489,776 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9020:Pcdhb8
|
UTSW |
18 |
37,489,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9055:Pcdhb8
|
UTSW |
18 |
37,490,585 (GRCm39) |
nonsense |
probably null |
|
|
R9077:Pcdhb8
|
UTSW |
18 |
37,489,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9387:Pcdhb8
|
UTSW |
18 |
37,488,751 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation