Incidental Mutation 'R3748:Tnip3'
| ID |
309915 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnip3
|
| Ensembl Gene |
ENSMUSG00000044162 |
| Gene Name |
TNFAIP3 interacting protein 3 |
| Synonyms |
9030611K07Rik |
| MMRRC Submission |
040733-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
65567382-65611024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65591747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 249
(L249F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114236]
[ENSMUST00000212375]
[ENSMUST00000212402]
|
| AlphaFold |
A0A1D5RMN0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114236
AA Change: L189F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109874
Gene: ENSMUSG00000044162
AA Change: L189F
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212375
AA Change: L260F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212402
AA Change: L249F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.0691 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and do not develop spontaneous inflammatory or autoimmune disease; mutant macrophages exhibit normal responses to IL-10 and LPS. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,112,422 (GRCm39) |
|
probably benign |
Het |
| Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
| Abca13 |
T |
C |
11: 9,266,119 (GRCm39) |
|
probably benign |
Het |
| Acaca |
A |
G |
11: 84,202,235 (GRCm39) |
|
probably null |
Het |
| Adam2 |
C |
T |
14: 66,297,361 (GRCm39) |
V182I |
probably benign |
Het |
| Adam26b |
A |
C |
8: 43,974,234 (GRCm39) |
V256G |
probably benign |
Het |
| Cfap68 |
A |
G |
9: 50,677,050 (GRCm39) |
C14R |
probably benign |
Het |
| Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,276,849 (GRCm39) |
Y393N |
probably damaging |
Het |
| Cmss1 |
T |
C |
16: 57,122,635 (GRCm39) |
E253G |
probably damaging |
Het |
| Csmd1 |
T |
G |
8: 15,956,071 (GRCm39) |
N3379H |
probably damaging |
Het |
| Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
| Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
| Daam1 |
C |
A |
12: 72,017,940 (GRCm39) |
D716E |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
| Fam221a |
A |
G |
6: 49,349,630 (GRCm39) |
D2G |
probably damaging |
Het |
| Golgb1 |
G |
C |
16: 36,739,274 (GRCm39) |
D2538H |
probably benign |
Het |
| Hoxc12 |
A |
G |
15: 102,846,813 (GRCm39) |
E235G |
probably damaging |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Mfsd4b4 |
A |
G |
10: 39,770,132 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
| Nrp1 |
T |
C |
8: 129,184,461 (GRCm39) |
W369R |
probably damaging |
Het |
| Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
| Or13a19 |
T |
C |
7: 139,903,041 (GRCm39) |
L143P |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
| Primpol |
A |
T |
8: 47,052,848 (GRCm39) |
D154E |
probably benign |
Het |
| Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
| Tdh |
T |
C |
14: 63,733,442 (GRCm39) |
T149A |
probably benign |
Het |
| Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,786,000 (GRCm39) |
N975K |
possibly damaging |
Het |
| Vmn1r39 |
T |
C |
6: 66,781,854 (GRCm39) |
N155D |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,207,351 (GRCm39) |
I97V |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
| Zswim4 |
G |
A |
8: 84,938,676 (GRCm39) |
P1069S |
possibly damaging |
Het |
|
| Other mutations in Tnip3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01736:Tnip3
|
APN |
6 |
65,573,107 (GRCm39) |
splice site |
probably benign |
|
|
IGL02054:Tnip3
|
APN |
6 |
65,567,595 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02382:Tnip3
|
APN |
6 |
65,591,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
nickle_nip
|
UTSW |
6 |
65,591,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0671:Tnip3
|
UTSW |
6 |
65,574,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1344:Tnip3
|
UTSW |
6 |
65,574,413 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1418:Tnip3
|
UTSW |
6 |
65,574,413 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3953:Tnip3
|
UTSW |
6 |
65,574,379 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3955:Tnip3
|
UTSW |
6 |
65,574,379 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5775:Tnip3
|
UTSW |
6 |
65,591,741 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5930:Tnip3
|
UTSW |
6 |
65,582,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6108:Tnip3
|
UTSW |
6 |
65,502,395 (GRCm39) |
splice site |
probably null |
|
|
R6495:Tnip3
|
UTSW |
6 |
65,582,846 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7210:Tnip3
|
UTSW |
6 |
65,570,495 (GRCm39) |
nonsense |
probably null |
|
|
R7956:Tnip3
|
UTSW |
6 |
65,591,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7983:Tnip3
|
UTSW |
6 |
65,515,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8267:Tnip3
|
UTSW |
6 |
65,582,826 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8957:Tnip3
|
UTSW |
6 |
65,582,843 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Tnip3
|
UTSW |
6 |
65,591,717 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGCTAGGCACATACAGAGG -3'
(R):5'- GTTCACTCCAGACCACAAATTG -3'
Sequencing Primer
(F):5'- TGAGGAAGATTAGCAAATGGTTTG -3'
(R):5'- CAAATTGGAGTTGTGGGTGCAATAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation