Incidental Mutation 'IGL01619:Def6'
| ID |
92500 |
| 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 # |
IGL01619
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
28426752-28447582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 28426838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 8
(L8F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002318]
[ENSMUST00000002327]
[ENSMUST00000073534]
[ENSMUST00000155030]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002318
|
| SMART Domains |
Protein: ENSMUSP00000002318
Gene: ENSMUSG00000024220
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
7 |
45 |
7.42e-6 |
PROSPERO |
|
internal_repeat_1
|
60 |
99 |
7.42e-6 |
PROSPERO |
|
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
165 |
189 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
195 |
219 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
225 |
249 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
255 |
279 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
285 |
309 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
315 |
339 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
345 |
368 |
5.06e-2 |
SMART |
|
low complexity region
|
375 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002327
AA Change: L8F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: L8F
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073534
|
| SMART Domains |
Protein: ENSMUSP00000073226
Gene: ENSMUSG00000024220
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
7 |
45 |
7.42e-6 |
PROSPERO |
|
internal_repeat_1
|
60 |
99 |
7.42e-6 |
PROSPERO |
|
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
165 |
189 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
195 |
219 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
225 |
249 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
255 |
279 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
285 |
309 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
315 |
339 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
345 |
368 |
5.06e-2 |
SMART |
|
low complexity region
|
375 |
396 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151595
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155030
|
| SMART Domains |
Protein: ENSMUSP00000117730
Gene: ENSMUSG00000024220
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
35 |
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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd46 |
T |
C |
15: 36,486,113 (GRCm39) |
T47A |
possibly damaging |
Het |
| Asxl3 |
T |
G |
18: 22,656,385 (GRCm39) |
V1465G |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,711,756 (GRCm39) |
D1657V |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,714,603 (GRCm39) |
H1995R |
probably benign |
Het |
| Cimip2b |
G |
A |
4: 43,427,814 (GRCm39) |
T170I |
possibly damaging |
Het |
| Cntn6 |
G |
A |
6: 104,705,335 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,722,441 (GRCm39) |
K1940* |
probably null |
Het |
| Dock10 |
A |
G |
1: 80,612,015 (GRCm39) |
|
probably benign |
Het |
| Fam72a |
A |
G |
1: 131,461,650 (GRCm39) |
I112V |
probably benign |
Het |
| Fgl1 |
A |
T |
8: 41,650,008 (GRCm39) |
W258R |
probably damaging |
Het |
| Ints6l |
G |
T |
X: 55,542,104 (GRCm39) |
|
probably benign |
Het |
| Lifr |
A |
T |
15: 7,220,643 (GRCm39) |
N1091I |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,762,309 (GRCm39) |
I1100T |
possibly damaging |
Het |
| Mrpl40 |
T |
A |
16: 18,691,294 (GRCm39) |
M139L |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,351,471 (GRCm39) |
|
probably benign |
Het |
| Or2m12 |
T |
A |
16: 19,104,909 (GRCm39) |
T195S |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,992 (GRCm39) |
F791L |
probably damaging |
Het |
| Prss29 |
T |
C |
17: 25,540,113 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,299,900 (GRCm39) |
|
probably null |
Het |
| Serpinb9e |
A |
G |
13: 33,439,108 (GRCm39) |
K178R |
probably damaging |
Het |
| Shtn1 |
A |
G |
19: 59,016,601 (GRCm39) |
S233P |
probably damaging |
Het |
| Smpd1 |
G |
A |
7: 105,204,549 (GRCm39) |
V143M |
possibly damaging |
Het |
| Terb1 |
G |
A |
8: 105,199,646 (GRCm39) |
H433Y |
probably benign |
Het |
| Traf6 |
C |
T |
2: 101,520,443 (GRCm39) |
Q164* |
probably null |
Het |
| Trip12 |
C |
A |
1: 84,792,631 (GRCm39) |
R4L |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,693,879 (GRCm39) |
P208S |
possibly damaging |
Het |
| Ube2c |
T |
C |
2: 164,613,232 (GRCm39) |
I50T |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,200,775 (GRCm39) |
D1174G |
probably damaging |
Het |
| Vmn2r121 |
T |
G |
X: 123,041,997 (GRCm39) |
M387L |
probably benign |
Het |
| Vmn2r18 |
T |
A |
5: 151,510,229 (GRCm39) |
N48I |
probably benign |
Het |
| Zc3h15 |
T |
C |
2: 83,490,517 (GRCm39) |
L217P |
probably damaging |
Het |
| Zyg11a |
T |
A |
4: 108,062,414 (GRCm39) |
E129V |
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 |
|
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation