Incidental Mutation 'IGL01597:Traip'
ID |
91728 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Traip
|
Ensembl Gene |
ENSMUSG00000032586 |
Gene Name |
TRAF-interacting protein |
Synonyms |
Trip |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01597
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
107828158-107849469 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 107833123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141689
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049348]
[ENSMUST00000194271]
|
AlphaFold |
Q8VIG6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000049348
|
SMART Domains |
Protein: ENSMUSP00000040001 Gene: ENSMUSG00000032586
Domain | Start | End | E-Value | Type |
RING
|
7 |
49 |
6.68e-6 |
SMART |
coiled coil region
|
70 |
278 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192567
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193715
|
Predicted Effect |
probably null
Transcript: ENSMUST00000194271
|
SMART Domains |
Protein: ENSMUSP00000141689 Gene: ENSMUSG00000032586
Domain | Start | End | E-Value | Type |
RING
|
7 |
49 |
3.2e-8 |
SMART |
coiled coil region
|
54 |
143 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194538
|
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 protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection against apoptosis. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality at prior to E8.5, embryonic growth retardation, decreased embryonic size, decreased cell proliferation and increased apoptosis. [provided by MGI curators]
|
Allele List at MGI |
All alleles(10) : Targeted(1) Gene trapped(9)
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna2d1 |
A |
T |
5: 16,531,390 (GRCm39) |
|
probably benign |
Het |
Cdk12 |
A |
G |
11: 98,141,090 (GRCm39) |
|
probably benign |
Het |
Ces1e |
T |
A |
8: 93,937,001 (GRCm39) |
I357F |
probably benign |
Het |
Dicer1 |
G |
A |
12: 104,671,469 (GRCm39) |
R934* |
probably null |
Het |
Dnah9 |
A |
T |
11: 66,009,656 (GRCm39) |
Y744N |
probably damaging |
Het |
Fgd5 |
T |
A |
6: 91,964,910 (GRCm39) |
I381N |
probably damaging |
Het |
Gabrg1 |
T |
C |
5: 70,939,691 (GRCm39) |
D147G |
probably damaging |
Het |
Gpsm2 |
A |
T |
3: 108,604,303 (GRCm39) |
M385K |
probably benign |
Het |
Hivep2 |
C |
T |
10: 14,025,118 (GRCm39) |
Q2311* |
probably null |
Het |
Or51ah3 |
A |
G |
7: 103,210,349 (GRCm39) |
I222V |
possibly damaging |
Het |
Or51b17 |
A |
G |
7: 103,542,303 (GRCm39) |
V213A |
probably benign |
Het |
Or5c1 |
A |
C |
2: 37,222,023 (GRCm39) |
D88A |
possibly damaging |
Het |
Or7e173 |
A |
T |
9: 19,938,982 (GRCm39) |
M84K |
probably damaging |
Het |
Papss2 |
G |
A |
19: 32,615,658 (GRCm39) |
R130H |
probably damaging |
Het |
Pik3r5 |
A |
T |
11: 68,386,827 (GRCm39) |
I819F |
probably damaging |
Het |
Pipox |
A |
G |
11: 77,774,019 (GRCm39) |
V199A |
probably damaging |
Het |
Pkd1l3 |
G |
T |
8: 110,350,153 (GRCm39) |
V333L |
probably benign |
Het |
Rbl1 |
A |
G |
2: 157,037,369 (GRCm39) |
|
probably benign |
Het |
Scyl2 |
T |
A |
10: 89,488,849 (GRCm39) |
I489F |
probably damaging |
Het |
Serinc4 |
T |
A |
2: 121,285,472 (GRCm39) |
L100F |
probably damaging |
Het |
Slc39a12 |
T |
A |
2: 14,439,120 (GRCm39) |
F458Y |
possibly damaging |
Het |
Snrnp200 |
T |
C |
2: 127,080,652 (GRCm39) |
|
probably benign |
Het |
Syngr4 |
T |
C |
7: 45,536,390 (GRCm39) |
T211A |
probably benign |
Het |
Taar8a |
T |
C |
10: 23,952,756 (GRCm39) |
L120P |
possibly damaging |
Het |
Tbx10 |
A |
G |
19: 4,046,736 (GRCm39) |
K72R |
probably benign |
Het |
Tomm70a |
A |
G |
16: 56,953,551 (GRCm39) |
T149A |
probably benign |
Het |
Trpm3 |
G |
A |
19: 22,692,610 (GRCm39) |
G234R |
probably damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,456,580 (GRCm39) |
|
probably benign |
Het |
Vstm5 |
T |
C |
9: 15,168,675 (GRCm39) |
W80R |
probably damaging |
Het |
Vwa5a |
A |
T |
9: 38,645,161 (GRCm39) |
R415S |
probably damaging |
Het |
Zfp39 |
A |
G |
11: 58,782,369 (GRCm39) |
V131A |
probably damaging |
Het |
|
Other mutations in Traip |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Traip
|
APN |
9 |
107,847,749 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01457:Traip
|
APN |
9 |
107,847,671 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02197:Traip
|
APN |
9 |
107,845,936 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03077:Traip
|
APN |
9 |
107,840,125 (GRCm39) |
unclassified |
probably benign |
|
IGL03226:Traip
|
APN |
9 |
107,848,192 (GRCm39) |
missense |
probably damaging |
0.97 |
BB008:Traip
|
UTSW |
9 |
107,848,241 (GRCm39) |
missense |
probably benign |
0.04 |
BB018:Traip
|
UTSW |
9 |
107,848,241 (GRCm39) |
missense |
probably benign |
0.04 |
P0016:Traip
|
UTSW |
9 |
107,845,855 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1693:Traip
|
UTSW |
9 |
107,847,229 (GRCm39) |
missense |
probably damaging |
0.99 |
R2054:Traip
|
UTSW |
9 |
107,840,118 (GRCm39) |
missense |
probably benign |
0.08 |
R4396:Traip
|
UTSW |
9 |
107,836,686 (GRCm39) |
missense |
probably benign |
0.02 |
R4617:Traip
|
UTSW |
9 |
107,847,218 (GRCm39) |
missense |
probably benign |
0.00 |
R6151:Traip
|
UTSW |
9 |
107,847,818 (GRCm39) |
critical splice donor site |
probably null |
|
R6241:Traip
|
UTSW |
9 |
107,845,933 (GRCm39) |
missense |
probably benign |
0.33 |
R6920:Traip
|
UTSW |
9 |
107,838,240 (GRCm39) |
nonsense |
probably null |
|
R7177:Traip
|
UTSW |
9 |
107,838,184 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7191:Traip
|
UTSW |
9 |
107,847,216 (GRCm39) |
missense |
probably benign |
|
R7504:Traip
|
UTSW |
9 |
107,838,743 (GRCm39) |
missense |
probably benign |
0.05 |
R7931:Traip
|
UTSW |
9 |
107,848,241 (GRCm39) |
missense |
probably benign |
0.04 |
R7939:Traip
|
UTSW |
9 |
107,833,077 (GRCm39) |
missense |
probably benign |
0.21 |
R8228:Traip
|
UTSW |
9 |
107,838,265 (GRCm39) |
missense |
probably benign |
0.16 |
R9059:Traip
|
UTSW |
9 |
107,840,549 (GRCm39) |
missense |
probably benign |
0.01 |
R9511:Traip
|
UTSW |
9 |
107,838,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R9548:Traip
|
UTSW |
9 |
107,833,099 (GRCm39) |
missense |
probably damaging |
1.00 |
X0018:Traip
|
UTSW |
9 |
107,838,855 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2013-12-09 |