Incidental Mutation 'IGL01784:Fam129a'
| ID |
154239 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam129a
|
| Ensembl Gene |
ENSMUSG00000026483 |
| Gene Name |
family with sequence similarity 129, member A |
| Synonyms |
Niban |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01784
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
151571186-151721939 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 151649365 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 174
(Y174N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097541]
[ENSMUST00000111875]
[ENSMUST00000134499]
[ENSMUST00000148810]
|
| AlphaFold |
Q3UW53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097541
AA Change: Y174N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095148
Gene: ENSMUSG00000026483
AA Change: Y174N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
70 |
197 |
2e-83 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111875
AA Change: Y174N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107506
Gene: ENSMUSG00000026483
AA Change: Y174N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
70 |
197 |
6e-86 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134499
|
| SMART Domains |
Protein: ENSMUSP00000115692
Gene: ENSMUSG00000026483
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1faoa_
|
67 |
114 |
5e-3 |
SMART |
|
Blast:PH
|
70 |
114 |
3e-23 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148810
AA Change: Y174N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115822
Gene: ENSMUSG00000026483
AA Change: Y174N
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1faoa_
|
67 |
118 |
1e-2 |
SMART |
|
Blast:PH
|
70 |
197 |
1e-80 |
BLAST |
|
low complexity region
|
540 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
797 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable with no overt phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,880,619 (GRCm38) |
P309L |
possibly damaging |
Het |
| Abca4 |
A |
T |
3: 122,138,505 (GRCm38) |
K269N |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,890,664 (GRCm38) |
T839A |
probably benign |
Het |
| Adcy7 |
A |
G |
8: 88,314,123 (GRCm38) |
D30G |
probably damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,921,217 (GRCm38) |
I149T |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,493,739 (GRCm38) |
D199G |
probably damaging |
Het |
| Ddo |
A |
G |
10: 40,631,788 (GRCm38) |
|
probably benign |
Het |
| Ensa |
T |
A |
3: 95,628,533 (GRCm38) |
|
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,631,778 (GRCm38) |
I405V |
possibly damaging |
Het |
| Fam171b |
T |
A |
2: 83,879,687 (GRCm38) |
L568M |
possibly damaging |
Het |
| Fmn2 |
A |
G |
1: 174,502,428 (GRCm38) |
D128G |
unknown |
Het |
| Fra10ac1 |
T |
A |
19: 38,219,677 (GRCm38) |
H43L |
probably benign |
Het |
| Gm10436 |
A |
G |
12: 88,176,315 (GRCm38) |
Y178H |
probably benign |
Het |
| Gm7589 |
T |
C |
9: 59,146,027 (GRCm38) |
|
noncoding transcript |
Het |
| Gsx1 |
A |
G |
5: 147,190,129 (GRCm38) |
D254G |
probably benign |
Het |
| Hoxb6 |
A |
G |
11: 96,300,813 (GRCm38) |
E187G |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,313,526 (GRCm38) |
I2385N |
probably damaging |
Het |
| Lman1l |
T |
C |
9: 57,620,564 (GRCm38) |
Y36C |
probably damaging |
Het |
| Mc3r |
T |
A |
2: 172,249,370 (GRCm38) |
C171S |
probably benign |
Het |
| Mccc1 |
T |
G |
3: 35,976,748 (GRCm38) |
N390H |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,265,310 (GRCm38) |
|
probably benign |
Het |
| Nfic |
T |
C |
10: 81,406,148 (GRCm38) |
D364G |
possibly damaging |
Het |
| Npy |
A |
G |
6: 49,829,334 (GRCm38) |
|
probably benign |
Het |
| Olfr767 |
C |
T |
10: 129,079,355 (GRCm38) |
V203M |
probably benign |
Het |
| Osbpl3 |
A |
G |
6: 50,344,922 (GRCm38) |
S75P |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 105,378,957 (GRCm38) |
A685S |
probably damaging |
Het |
| Prss53 |
T |
C |
7: 127,886,552 (GRCm38) |
T539A |
probably benign |
Het |
| Rnf43 |
T |
A |
11: 87,731,806 (GRCm38) |
S537T |
possibly damaging |
Het |
| Rpgrip1l |
G |
A |
8: 91,270,461 (GRCm38) |
T597I |
possibly damaging |
Het |
| Rtn4 |
C |
A |
11: 29,707,291 (GRCm38) |
Q482K |
probably damaging |
Het |
| Sema3g |
T |
C |
14: 31,222,967 (GRCm38) |
I349T |
probably damaging |
Het |
| Sh3gl1 |
A |
C |
17: 56,019,325 (GRCm38) |
S108A |
possibly damaging |
Het |
| Tmc7 |
A |
T |
7: 118,547,315 (GRCm38) |
|
probably null |
Het |
| Tmem131 |
G |
A |
1: 36,815,483 (GRCm38) |
T131I |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 110,671,168 (GRCm38) |
L505P |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 133,192,128 (GRCm38) |
Q231R |
unknown |
Het |
| Wnt7a |
A |
G |
6: 91,365,857 (GRCm38) |
C348R |
probably damaging |
Het |
| Zkscan6 |
T |
A |
11: 65,814,721 (GRCm38) |
L86Q |
probably damaging |
Het |
|
| Other mutations in Fam129a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01150:Fam129a
|
APN |
1 |
151,717,721 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01690:Fam129a
|
APN |
1 |
151,703,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01762:Fam129a
|
APN |
1 |
151,636,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01938:Fam129a
|
APN |
1 |
151,689,614 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL02427:Fam129a
|
APN |
1 |
151,717,274 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02617:Fam129a
|
APN |
1 |
151,571,545 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL02946:Fam129a
|
APN |
1 |
151,649,425 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0242:Fam129a
|
UTSW |
1 |
151,718,216 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0242:Fam129a
|
UTSW |
1 |
151,718,216 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0279:Fam129a
|
UTSW |
1 |
151,709,206 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0421:Fam129a
|
UTSW |
1 |
151,709,082 (GRCm38) |
splice site |
probably benign |
|
|
R0531:Fam129a
|
UTSW |
1 |
151,718,084 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0725:Fam129a
|
UTSW |
1 |
151,706,015 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1493:Fam129a
|
UTSW |
1 |
151,706,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1563:Fam129a
|
UTSW |
1 |
151,715,673 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R1868:Fam129a
|
UTSW |
1 |
151,641,551 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R1944:Fam129a
|
UTSW |
1 |
151,696,228 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1945:Fam129a
|
UTSW |
1 |
151,696,228 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2071:Fam129a
|
UTSW |
1 |
151,636,430 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2126:Fam129a
|
UTSW |
1 |
151,709,133 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2126:Fam129a
|
UTSW |
1 |
151,696,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2138:Fam129a
|
UTSW |
1 |
151,696,251 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2180:Fam129a
|
UTSW |
1 |
151,718,078 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2402:Fam129a
|
UTSW |
1 |
151,689,614 (GRCm38) |
missense |
probably benign |
0.22 |
|
R3689:Fam129a
|
UTSW |
1 |
151,703,696 (GRCm38) |
splice site |
probably null |
|
|
R3783:Fam129a
|
UTSW |
1 |
151,689,648 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R3975:Fam129a
|
UTSW |
1 |
151,649,335 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4029:Fam129a
|
UTSW |
1 |
151,695,690 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4328:Fam129a
|
UTSW |
1 |
151,636,418 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4447:Fam129a
|
UTSW |
1 |
151,636,402 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4573:Fam129a
|
UTSW |
1 |
151,703,766 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4774:Fam129a
|
UTSW |
1 |
151,715,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5064:Fam129a
|
UTSW |
1 |
151,689,659 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5077:Fam129a
|
UTSW |
1 |
151,714,523 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5187:Fam129a
|
UTSW |
1 |
151,703,829 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R5484:Fam129a
|
UTSW |
1 |
151,718,086 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5553:Fam129a
|
UTSW |
1 |
151,717,235 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5572:Fam129a
|
UTSW |
1 |
151,709,190 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5575:Fam129a
|
UTSW |
1 |
151,718,240 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5586:Fam129a
|
UTSW |
1 |
151,717,556 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5697:Fam129a
|
UTSW |
1 |
151,700,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6305:Fam129a
|
UTSW |
1 |
151,695,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7065:Fam129a
|
UTSW |
1 |
151,700,107 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7126:Fam129a
|
UTSW |
1 |
151,714,567 (GRCm38) |
nonsense |
probably null |
|
|
R7392:Fam129a
|
UTSW |
1 |
151,696,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7571:Fam129a
|
UTSW |
1 |
151,718,297 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7577:Fam129a
|
UTSW |
1 |
151,718,312 (GRCm38) |
missense |
probably benign |
|
|
R7939:Fam129a
|
UTSW |
1 |
151,706,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8018:Fam129a
|
UTSW |
1 |
151,717,255 (GRCm38) |
nonsense |
probably null |
|
|
R8164:Fam129a
|
UTSW |
1 |
151,717,588 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8356:Fam129a
|
UTSW |
1 |
151,696,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8478:Fam129a
|
UTSW |
1 |
151,636,512 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8833:Fam129a
|
UTSW |
1 |
151,644,930 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8847:Fam129a
|
UTSW |
1 |
151,700,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8854:Fam129a
|
UTSW |
1 |
151,709,199 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8960:Fam129a
|
UTSW |
1 |
151,715,712 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9616:Fam129a
|
UTSW |
1 |
151,636,442 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9684:Fam129a
|
UTSW |
1 |
151,717,787 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2014-02-04 |
Incidental Mutation