Incidental Mutation 'R4396:Traip'
| ID |
325491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traip
|
| Ensembl Gene |
ENSMUSG00000032586 |
| Gene Name |
TRAF-interacting protein |
| Synonyms |
Trip |
| MMRRC Submission |
041129-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4396 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107828158-107849469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 107836686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 110
(T110S)
|
| 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: T110S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000040001
Gene: ENSMUSG00000032586
AA Change: T110S
| 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 |
noncoding transcript
Transcript: ENSMUST00000194191
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194271
AA Change: T94S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141689
Gene: ENSMUSG00000032586
AA Change: T94S
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195803
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (52/53) |
| 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 |
|---|
| Acsm2 |
T |
C |
7: 119,195,143 (GRCm39) |
F552L |
probably damaging |
Het |
| Actn2 |
A |
G |
13: 12,325,765 (GRCm39) |
L70P |
probably damaging |
Het |
| Btbd7 |
A |
G |
12: 102,751,552 (GRCm39) |
S1071P |
probably benign |
Het |
| Cd200r1 |
T |
A |
16: 44,586,417 (GRCm39) |
W16R |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,863,478 (GRCm39) |
N120D |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,549,947 (GRCm39) |
T317A |
unknown |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,718,361 (GRCm39) |
L1683P |
probably damaging |
Het |
| Dynll1 |
A |
T |
5: 115,438,700 (GRCm39) |
C2S |
probably benign |
Het |
| Elp2 |
T |
A |
18: 24,742,707 (GRCm39) |
S80T |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
| Fzd3 |
A |
G |
14: 65,473,054 (GRCm39) |
I238T |
probably damaging |
Het |
| Galnt7 |
A |
T |
8: 57,991,215 (GRCm39) |
F432I |
probably damaging |
Het |
| Gemin5 |
T |
A |
11: 58,030,375 (GRCm39) |
T817S |
probably benign |
Het |
| Gm5414 |
T |
G |
15: 101,534,101 (GRCm39) |
E294A |
probably damaging |
Het |
| H2-T5 |
C |
A |
17: 36,472,861 (GRCm39) |
|
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Kcnj4 |
C |
A |
15: 79,368,874 (GRCm39) |
A369S |
probably benign |
Het |
| Llgl1 |
T |
C |
11: 60,596,834 (GRCm39) |
V145A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,069,491 (GRCm39) |
D185G |
probably damaging |
Het |
| Mettl2 |
A |
G |
11: 105,017,604 (GRCm39) |
D38G |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mpp4 |
T |
C |
1: 59,183,961 (GRCm39) |
I260V |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,651,220 (GRCm39) |
E1112G |
probably damaging |
Het |
| Mtus2 |
T |
A |
5: 148,140,748 (GRCm39) |
N871K |
possibly damaging |
Het |
| Mylk |
C |
T |
16: 34,732,645 (GRCm39) |
Q642* |
probably null |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Or4f57 |
A |
G |
2: 111,790,560 (GRCm39) |
I286T |
probably damaging |
Het |
| Pdzd2 |
A |
T |
15: 12,387,732 (GRCm39) |
D875E |
probably benign |
Het |
| Piezo1 |
G |
T |
8: 123,225,413 (GRCm39) |
T557K |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,929,291 (GRCm39) |
V49A |
possibly damaging |
Het |
| Pramel6 |
A |
T |
2: 87,338,874 (GRCm39) |
I25F |
probably damaging |
Het |
| Rreb1 |
C |
T |
13: 38,114,419 (GRCm39) |
Q593* |
probably null |
Het |
| Scn8a |
A |
G |
15: 100,870,711 (GRCm39) |
N254S |
probably damaging |
Het |
| Scnn1g |
T |
G |
7: 121,339,650 (GRCm39) |
S150A |
probably benign |
Het |
| Sec24a |
A |
G |
11: 51,605,991 (GRCm39) |
F686L |
possibly damaging |
Het |
| Sirt1 |
T |
C |
10: 63,157,777 (GRCm39) |
T546A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Traf5 |
A |
T |
1: 191,729,806 (GRCm39) |
V415E |
probably benign |
Het |
| Treml2 |
T |
C |
17: 48,615,142 (GRCm39) |
V209A |
probably benign |
Het |
| Trpv5 |
T |
C |
6: 41,634,830 (GRCm39) |
S500G |
probably benign |
Het |
| Usp32 |
G |
A |
11: 84,944,801 (GRCm39) |
L296F |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Zswim1 |
A |
G |
2: 164,667,369 (GRCm39) |
D207G |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTAGCTTAGACTTCCCGG -3'
(R):5'- ACAAAGGCATTGGTTGAGGC -3'
Sequencing Primer
(F):5'- AGCTTAGACTTCCCGGTGCAC -3'
(R):5'- GCCTTTAATCTCTACACTTGGGAGG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation