Incidental Mutation 'BB018:Traip'
| ID |
643017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traip
|
| Ensembl Gene |
ENSMUSG00000032586 |
| Gene Name |
TRAF-interacting protein |
| Synonyms |
Trip |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
BB018
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107828158-107849469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107848241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 453
(I453M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035216]
[ENSMUST00000049348]
[ENSMUST00000177392]
|
| AlphaFold |
Q8VIG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035216
|
| SMART Domains |
Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
6 |
401 |
1.2e-33 |
PFAM |
|
Pfam:E1_FCCH
|
178 |
249 |
1.1e-26 |
PFAM |
|
Pfam:E1_4HB
|
250 |
318 |
2.5e-22 |
PFAM |
|
internal_repeat_1
|
402 |
510 |
8.05e-5 |
PROSPERO |
|
Pfam:UBA_e1_thiolCys
|
592 |
808 |
1.3e-50 |
PFAM |
|
UBA_e1_C
|
846 |
973 |
4.63e-65 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049348
AA Change: I453M
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000040001
Gene: ENSMUSG00000032586
AA Change: I453M
| 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: ENSMUST00000177039
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177392
|
| SMART Domains |
Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
22 |
153 |
1.2e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp2 |
A |
T |
2: 91,037,060 (GRCm39) |
|
probably null |
Het |
| Aire |
G |
A |
10: 77,866,130 (GRCm39) |
A536V |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,294,645 (GRCm39) |
I951M |
probably benign |
Het |
| Ash1l |
G |
T |
3: 88,950,848 (GRCm39) |
C2190F |
probably damaging |
Het |
| C1s1 |
C |
T |
6: 124,510,359 (GRCm39) |
V363M |
probably damaging |
Het |
| Diaph3 |
A |
T |
14: 87,352,456 (GRCm39) |
D48E |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,095,763 (GRCm39) |
V559A |
probably benign |
Het |
| Dzank1 |
T |
C |
2: 144,323,614 (GRCm39) |
I610V |
probably benign |
Het |
| F7 |
A |
G |
8: 13,085,209 (GRCm39) |
I412V |
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,525,382 (GRCm39) |
S919P |
probably damaging |
Het |
| Igkv4-70 |
C |
A |
6: 69,244,975 (GRCm39) |
R82L |
probably damaging |
Het |
| Lnp1 |
T |
A |
16: 56,748,281 (GRCm39) |
R4* |
probably null |
Het |
| Lrrc3b |
T |
C |
14: 15,358,018 (GRCm38) |
N196S |
probably benign |
Het |
| Mlxip |
A |
G |
5: 123,588,558 (GRCm39) |
D816G |
probably damaging |
Het |
| Myh7 |
C |
T |
14: 55,221,119 (GRCm39) |
E935K |
possibly damaging |
Het |
| Myom3 |
A |
T |
4: 135,516,947 (GRCm39) |
H839L |
probably benign |
Het |
| Nebl |
C |
T |
2: 17,381,433 (GRCm39) |
|
probably null |
Het |
| Ninj1 |
T |
C |
13: 49,347,432 (GRCm39) |
I99T |
probably damaging |
Het |
| Or11g1 |
A |
C |
14: 50,651,786 (GRCm39) |
M262L |
probably damaging |
Het |
| Or2l5 |
A |
G |
16: 19,334,258 (GRCm39) |
S43P |
possibly damaging |
Het |
| Or4a76 |
T |
A |
2: 89,460,448 (GRCm39) |
I265F |
possibly damaging |
Het |
| Or8g55 |
A |
T |
9: 39,785,146 (GRCm39) |
T192S |
possibly damaging |
Het |
| Otop1 |
A |
G |
5: 38,445,364 (GRCm39) |
H174R |
probably damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,510 (GRCm39) |
N157D |
possibly damaging |
Het |
| Prss44 |
A |
C |
9: 110,643,746 (GRCm39) |
Q130P |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,607,925 (GRCm39) |
M712L |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,574,987 (GRCm39) |
S344I |
probably benign |
Het |
| Rps6kl1 |
T |
C |
12: 85,196,566 (GRCm39) |
I33V |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,148,156 (GRCm39) |
S110G |
probably damaging |
Het |
| Sdk2 |
C |
A |
11: 113,784,267 (GRCm39) |
K157N |
possibly damaging |
Het |
| Serpina1d |
A |
T |
12: 103,733,815 (GRCm39) |
V163D |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,205,428 (GRCm39) |
S56P |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,318,640 (GRCm39) |
L636P |
probably benign |
Het |
| Slc6a1 |
T |
C |
6: 114,288,863 (GRCm39) |
F474S |
probably benign |
Het |
| Slco6d1 |
A |
G |
1: 98,356,141 (GRCm39) |
D235G |
probably damaging |
Het |
| Srgn |
A |
T |
10: 62,330,763 (GRCm39) |
M114K |
possibly damaging |
Het |
| Syne3 |
A |
T |
12: 104,929,491 (GRCm39) |
V243E |
probably damaging |
Het |
| Tcf19 |
A |
G |
17: 35,825,804 (GRCm39) |
F118L |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,165,742 (GRCm39) |
|
probably null |
Het |
| Tnxb |
A |
G |
17: 34,907,672 (GRCm39) |
T1239A |
probably damaging |
Het |
| Vmn1r157 |
C |
T |
7: 22,461,210 (GRCm39) |
A30V |
probably damaging |
Het |
| Vmn1r233 |
G |
A |
17: 21,214,125 (GRCm39) |
A275V |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,822,854 (GRCm39) |
R2976* |
probably null |
Het |
| Wdr75 |
T |
C |
1: 45,858,795 (GRCm39) |
F655L |
probably benign |
Het |
| Wwp1 |
A |
G |
4: 19,650,114 (GRCm39) |
|
probably null |
Het |
| Zc3h4 |
T |
C |
7: 16,166,909 (GRCm39) |
L747P |
unknown |
Het |
| Zfp268 |
G |
A |
4: 145,349,126 (GRCm39) |
D188N |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCCTACAGCCTAAGATGG -3'
(R):5'- TCATGTGGCTTCCCAGTGTG -3'
Sequencing Primer
(F):5'- TAAGATGGGCCCAGCTGC -3'
(R):5'- CTTCCCAGTGTGGTGCAG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation