Incidental Mutation 'R1310:Def6'
| ID |
157913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Def6
|
| Ensembl Gene |
ENSMUSG00000002257 |
| Gene Name |
differentially expressed in FDCP 6 |
| Synonyms |
SLAT, 2410003F05Rik, 6430538D02Rik, IRF-4-binding protein, IBP |
| MMRRC Submission |
039376-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1310 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28426752-28447582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28436593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 86
(V86I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002327]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002327
AA Change: V86I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: V86I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
145 |
166 |
N/A |
INTRINSIC |
|
PH
|
217 |
314 |
3.87e-20 |
SMART |
|
coiled coil region
|
318 |
551 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutants spontaneously develop systemic autoimmunity. Females primarily are affected, displaying hypergammaglobulinemia, accumulation of effector/memory T cells and IgG+ B cells, and production of autoantibodies [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,754,936 (GRCm39) |
H678R |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,714,496 (GRCm39) |
V929A |
probably benign |
Het |
| Bcl10 |
T |
G |
3: 145,636,180 (GRCm39) |
V26G |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,948,567 (GRCm39) |
V1581A |
probably damaging |
Het |
| C87436 |
A |
G |
6: 86,422,432 (GRCm39) |
E2G |
possibly damaging |
Het |
| Drd3 |
A |
G |
16: 43,641,892 (GRCm39) |
K403E |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,536,368 (GRCm39) |
R534C |
probably damaging |
Het |
| H2-T24 |
G |
T |
17: 36,325,888 (GRCm39) |
Y234* |
probably null |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ifit1bl1 |
A |
G |
19: 34,571,096 (GRCm39) |
S454P |
possibly damaging |
Het |
| Or4x11 |
T |
A |
2: 89,868,047 (GRCm39) |
D261E |
probably benign |
Het |
| Or51a43 |
C |
T |
7: 103,717,805 (GRCm39) |
M144I |
probably benign |
Het |
| Pde4c |
A |
G |
8: 71,202,572 (GRCm39) |
D592G |
possibly damaging |
Het |
| Scn11a |
C |
T |
9: 119,584,123 (GRCm39) |
W1497* |
probably null |
Het |
| Sik3 |
A |
G |
9: 46,130,724 (GRCm39) |
E1170G |
possibly damaging |
Het |
| Soat1 |
A |
G |
1: 156,268,902 (GRCm39) |
L183P |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,069,416 (GRCm39) |
Y2790F |
possibly damaging |
Het |
| Tmeff2 |
T |
C |
1: 51,220,946 (GRCm39) |
V307A |
probably damaging |
Het |
| Tmem38a |
T |
A |
8: 73,333,814 (GRCm39) |
F98I |
probably damaging |
Het |
| Yod1 |
C |
T |
1: 130,646,567 (GRCm39) |
A148V |
probably benign |
Het |
| Zfp850 |
A |
C |
7: 27,688,884 (GRCm39) |
S441R |
probably benign |
Het |
| Zfp976 |
G |
A |
7: 42,262,610 (GRCm39) |
P409L |
probably damaging |
Het |
|
| Other mutations in Def6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01603:Def6
|
APN |
17 |
28,438,714 (GRCm39) |
splice site |
probably benign |
|
|
IGL01619:Def6
|
APN |
17 |
28,426,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01737:Def6
|
APN |
17 |
28,442,701 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02550:Def6
|
APN |
17 |
28,447,235 (GRCm39) |
missense |
probably benign |
0.03 |
|
Huntsville
|
UTSW |
17 |
28,438,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Redstone
|
UTSW |
17 |
28,436,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Silos
|
UTSW |
17 |
28,436,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Def6
|
UTSW |
17 |
28,436,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0335:Def6
|
UTSW |
17 |
28,447,043 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0357:Def6
|
UTSW |
17 |
28,442,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0373:Def6
|
UTSW |
17 |
28,439,154 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1161:Def6
|
UTSW |
17 |
28,436,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1470:Def6
|
UTSW |
17 |
28,444,956 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1470:Def6
|
UTSW |
17 |
28,444,956 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1636:Def6
|
UTSW |
17 |
28,442,892 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1778:Def6
|
UTSW |
17 |
28,439,160 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2432:Def6
|
UTSW |
17 |
28,447,043 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3881:Def6
|
UTSW |
17 |
28,439,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4402:Def6
|
UTSW |
17 |
28,438,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4589:Def6
|
UTSW |
17 |
28,447,121 (GRCm39) |
missense |
probably benign |
|
|
R4683:Def6
|
UTSW |
17 |
28,436,609 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5704:Def6
|
UTSW |
17 |
28,447,200 (GRCm39) |
missense |
probably benign |
|
|
R6481:Def6
|
UTSW |
17 |
28,445,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6805:Def6
|
UTSW |
17 |
28,442,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7029:Def6
|
UTSW |
17 |
28,444,943 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7863:Def6
|
UTSW |
17 |
28,446,841 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8229:Def6
|
UTSW |
17 |
28,436,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Def6
|
UTSW |
17 |
28,435,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9297:Def6
|
UTSW |
17 |
28,436,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9671:Def6
|
UTSW |
17 |
28,438,755 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9684:Def6
|
UTSW |
17 |
28,436,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTCTCCCTTGGGCTGAGAAAC -3'
(R):5'- TGTCACCCTTACCTCATCGGGAAC -3'
Sequencing Primer
(F):5'- ATTGGAGTGTCTGAGCCAAC -3'
(R):5'- TCATCGGGAACCATGATCAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation