Incidental Mutation 'IGL01737:Def6'
| ID |
105727 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Def6
|
| Ensembl Gene |
ENSMUSG00000002257 |
| Gene Name |
differentially expressed in FDCP 6 |
| Synonyms |
SLAT, 2410003F05Rik, 6430538D02Rik, IRF-4-binding protein, IBP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01737
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
28426752-28447582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 28442701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 288
(R288L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002327]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002327
AA Change: R288L
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: R288L
| 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 |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
A |
G |
13: 104,526,643 (GRCm39) |
I524V |
probably damaging |
Het |
| Atxn2 |
T |
A |
5: 121,935,407 (GRCm39) |
M336K |
probably damaging |
Het |
| Bcr |
T |
A |
10: 74,990,783 (GRCm39) |
F763Y |
probably damaging |
Het |
| Bdnf |
A |
G |
2: 109,554,100 (GRCm39) |
Y158C |
probably damaging |
Het |
| Ccdc92 |
T |
C |
5: 124,912,920 (GRCm39) |
E203G |
probably damaging |
Het |
| Cyp2j12 |
T |
C |
4: 96,010,895 (GRCm39) |
*72W |
probably null |
Het |
| Foxn1 |
T |
G |
11: 78,251,732 (GRCm39) |
S500R |
possibly damaging |
Het |
| Gss |
T |
C |
2: 155,409,726 (GRCm39) |
K77E |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,304,739 (GRCm39) |
G410D |
probably benign |
Het |
| Krt36 |
A |
T |
11: 99,994,946 (GRCm39) |
C209S |
possibly damaging |
Het |
| Mmrn1 |
T |
C |
6: 60,954,145 (GRCm39) |
F809L |
probably benign |
Het |
| Mptx2 |
C |
A |
1: 173,102,408 (GRCm39) |
V94F |
probably damaging |
Het |
| Myh4 |
G |
T |
11: 67,134,245 (GRCm39) |
|
probably benign |
Het |
| N4bp2l1 |
G |
T |
5: 150,517,781 (GRCm39) |
H41N |
possibly damaging |
Het |
| Ndnf |
T |
A |
6: 65,680,539 (GRCm39) |
S273T |
probably benign |
Het |
| Nt5c1b |
A |
T |
12: 10,440,108 (GRCm39) |
Y624F |
possibly damaging |
Het |
| Prss8 |
C |
T |
7: 127,525,752 (GRCm39) |
V256M |
probably damaging |
Het |
| Ramp1 |
T |
C |
1: 91,150,821 (GRCm39) |
|
probably benign |
Het |
| Sf3b2 |
A |
G |
19: 5,329,866 (GRCm39) |
|
probably benign |
Het |
| Tfdp2 |
G |
A |
9: 96,182,465 (GRCm39) |
R235Q |
possibly damaging |
Het |
| Tle1 |
C |
T |
4: 72,116,058 (GRCm39) |
|
probably benign |
Het |
| Tmprss11e |
A |
G |
5: 86,867,593 (GRCm39) |
V159A |
probably damaging |
Het |
| Trim12c |
A |
G |
7: 103,997,269 (GRCm39) |
C96R |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,244,931 (GRCm39) |
D1256G |
probably benign |
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 |
|
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 |
|
R1310: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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation