Incidental Mutation 'R9059:Traip'
| ID |
688872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traip
|
| Ensembl Gene |
ENSMUSG00000032586 |
| Gene Name |
TRAF-interacting protein |
| Synonyms |
Trip |
| MMRRC Submission |
068885-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9059 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107828158-107849469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107840549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 273
(I273V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049348]
[ENSMUST00000194271]
|
| AlphaFold |
Q8VIG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049348
AA Change: I273V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000040001
Gene: ENSMUSG00000032586
AA Change: I273V
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
7 |
49 |
6.68e-6 |
SMART |
|
coiled coil region
|
70 |
278 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (45/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
A |
T |
12: 24,124,732 (GRCm39) |
D48E |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 35,959,850 (GRCm39) |
T101A |
probably damaging |
Het |
| Acot8 |
A |
G |
2: 164,634,829 (GRCm39) |
S316P |
probably benign |
Het |
| Acta2 |
G |
T |
19: 34,219,155 (GRCm39) |
A349D |
possibly damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,562,692 (GRCm39) |
|
probably null |
Het |
| Ankrd55 |
A |
G |
13: 112,455,073 (GRCm39) |
D57G |
probably damaging |
Het |
| Azin2 |
A |
G |
4: 128,828,440 (GRCm39) |
Y351H |
probably benign |
Het |
| Ccdc142 |
T |
C |
6: 83,079,400 (GRCm39) |
C246R |
probably damaging |
Het |
| Col25a1 |
C |
A |
3: 130,268,499 (GRCm39) |
Q179K |
unknown |
Het |
| Ddx46 |
C |
T |
13: 55,799,921 (GRCm39) |
A277V |
probably benign |
Het |
| Diaph1 |
T |
A |
18: 38,022,798 (GRCm39) |
N792I |
possibly damaging |
Het |
| Dnah11 |
G |
A |
12: 118,094,578 (GRCm39) |
P830L |
probably benign |
Het |
| Dnah3 |
C |
G |
7: 119,684,368 (GRCm39) |
R252S |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,245,812 (GRCm39) |
D550G |
probably benign |
Het |
| Dph3 |
T |
C |
14: 31,807,384 (GRCm39) |
N31D |
probably benign |
Het |
| Dsg1c |
A |
T |
18: 20,408,306 (GRCm39) |
T452S |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,604,182 (GRCm39) |
M883K |
possibly damaging |
Het |
| Efcab3 |
T |
C |
11: 104,642,689 (GRCm39) |
V1104A |
possibly damaging |
Het |
| Epn1 |
T |
G |
7: 5,098,067 (GRCm39) |
S293A |
probably benign |
Het |
| Fggy |
T |
A |
4: 95,688,841 (GRCm39) |
Y318* |
probably null |
Het |
| Hip1 |
A |
G |
5: 135,457,597 (GRCm39) |
L703P |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Igf2r |
GCAGCCCTCCATAGGCGCCAGCCCTCCATAGGCGC |
GCAGCCCTCCATAGGCGC |
17: 12,970,180 (GRCm39) |
|
probably null |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Larp4 |
A |
G |
15: 99,889,693 (GRCm39) |
E204G |
probably benign |
Het |
| Lbr |
A |
G |
1: 181,645,119 (GRCm39) |
I511T |
|
Het |
| Lingo3 |
G |
T |
10: 80,670,523 (GRCm39) |
T469K |
probably benign |
Het |
| Lrrc30 |
A |
T |
17: 67,938,798 (GRCm39) |
W261R |
probably damaging |
Het |
| Man2b1 |
T |
C |
8: 85,818,155 (GRCm39) |
V442A |
probably damaging |
Het |
| Mroh3 |
T |
A |
1: 136,109,533 (GRCm39) |
R891S |
probably benign |
Het |
| Mtcl1 |
T |
A |
17: 66,650,606 (GRCm39) |
M1620L |
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,668,899 (GRCm39) |
V253A |
possibly damaging |
Het |
| Or5b101 |
A |
T |
19: 13,005,277 (GRCm39) |
C139S |
probably damaging |
Het |
| Pcdhb22 |
A |
T |
18: 37,652,722 (GRCm39) |
N140Y |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,883,254 (GRCm39) |
V294A |
probably benign |
Het |
| Ptk7 |
A |
T |
17: 46,877,117 (GRCm39) |
D980E |
probably damaging |
Het |
| Rdh11 |
T |
A |
12: 79,238,713 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
T |
G |
7: 128,365,805 (GRCm39) |
L558R |
probably damaging |
Het |
| Slc22a26 |
C |
T |
19: 7,762,559 (GRCm39) |
M460I |
probably benign |
Het |
| Smc1b |
G |
A |
15: 85,004,875 (GRCm39) |
Q400* |
probably null |
Het |
| Spg11 |
T |
C |
2: 121,918,788 (GRCm39) |
E947G |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,876,805 (GRCm39) |
I840V |
probably benign |
Het |
| Tlk1 |
T |
C |
2: 70,617,277 (GRCm39) |
T68A |
possibly damaging |
Het |
| Trim30c |
T |
G |
7: 104,031,272 (GRCm39) |
*514C |
probably null |
Het |
| U2surp |
A |
G |
9: 95,363,716 (GRCm39) |
Y615H |
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 |
|
IGL01597:Traip
|
APN |
9 |
107,833,123 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTAATCTCCAGAGCGAG -3'
(R):5'- TCCTGGTCAGACCCCAAATTC -3'
Sequencing Primer
(F):5'- TAATCTCCAGAGCGAGTATGC -3'
(R):5'- CAAAGCCGCTTTTCAGTTAGAGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation