Incidental Mutation 'R7029:Def6'
| ID |
546203 |
| 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 |
045130-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7029 (G1)
|
| Quality Score |
217.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28426752-28447582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28444943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 447
(K447R)
|
| 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: K447R
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: K447R
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,841 (GRCm39) |
Q271R |
probably benign |
Het |
| Abhd4 |
T |
A |
14: 54,500,164 (GRCm39) |
W63R |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,120,018 (GRCm39) |
M1176V |
probably null |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Brox |
G |
A |
1: 183,065,750 (GRCm39) |
P206L |
possibly damaging |
Het |
| Ccn3 |
A |
G |
15: 54,611,171 (GRCm39) |
D102G |
possibly damaging |
Het |
| Dna2 |
T |
C |
10: 62,799,773 (GRCm39) |
S726P |
probably damaging |
Het |
| Ell |
G |
A |
8: 71,031,879 (GRCm39) |
V15I |
probably damaging |
Het |
| Entrep2 |
T |
A |
7: 64,409,075 (GRCm39) |
T440S |
probably benign |
Het |
| Epha3 |
T |
A |
16: 63,593,698 (GRCm39) |
D130V |
probably benign |
Het |
| Gys1 |
A |
G |
7: 45,089,008 (GRCm39) |
T200A |
possibly damaging |
Het |
| Habp4 |
A |
T |
13: 64,309,939 (GRCm39) |
H47L |
probably benign |
Het |
| Iqcn |
G |
T |
8: 71,161,511 (GRCm39) |
V235L |
possibly damaging |
Het |
| Kcnj10 |
C |
A |
1: 172,196,563 (GRCm39) |
R26S |
probably benign |
Het |
| Klhl1 |
T |
A |
14: 96,755,632 (GRCm39) |
D41V |
probably benign |
Het |
| Lyn |
A |
G |
4: 3,782,996 (GRCm39) |
T410A |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,754,031 (GRCm39) |
T847A |
probably damaging |
Het |
| Mrgpra3 |
G |
T |
7: 47,239,290 (GRCm39) |
T212N |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,251 (GRCm39) |
F491L |
probably benign |
Het |
| Neurl4 |
T |
A |
11: 69,801,562 (GRCm39) |
I1206N |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,621 (GRCm39) |
W618R |
possibly damaging |
Het |
| Pomc |
A |
G |
12: 4,010,146 (GRCm39) |
H129R |
probably damaging |
Het |
| Ppm1l |
C |
A |
3: 69,460,399 (GRCm39) |
H325Q |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,722,474 (GRCm39) |
|
probably benign |
Het |
| Reep2 |
A |
G |
18: 34,978,342 (GRCm39) |
I74V |
probably null |
Het |
| Robo2 |
T |
G |
16: 73,745,225 (GRCm39) |
E850A |
probably damaging |
Het |
| Scrn2 |
T |
A |
11: 96,921,262 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
G |
A |
4: 126,923,675 (GRCm39) |
R673K |
probably benign |
Het |
| Sh2d3c |
T |
C |
2: 32,644,581 (GRCm39) |
*703R |
probably null |
Het |
| Spp1 |
A |
G |
5: 104,587,167 (GRCm39) |
M85V |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,097,810 (GRCm39) |
E98G |
probably damaging |
Het |
| Srrm4 |
T |
A |
5: 116,582,851 (GRCm39) |
|
probably benign |
Het |
| Ticam1 |
A |
T |
17: 56,578,154 (GRCm39) |
S314T |
possibly damaging |
Het |
| Tie1 |
T |
C |
4: 118,341,823 (GRCm39) |
I209V |
possibly damaging |
Het |
| Vapa |
G |
A |
17: 65,889,586 (GRCm39) |
R194* |
probably null |
Het |
| Vcan |
C |
T |
13: 89,838,360 (GRCm39) |
D2395N |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,241,574 (GRCm39) |
H295R |
probably benign |
Het |
| Zdhhc14 |
A |
G |
17: 5,698,186 (GRCm39) |
Y85C |
probably damaging |
Het |
| Zfp35 |
T |
A |
18: 24,136,583 (GRCm39) |
F309Y |
probably damaging |
Het |
| Zfp423 |
C |
A |
8: 88,414,694 (GRCm39) |
C1187F |
probably damaging |
Het |
| Zfp874b |
T |
C |
13: 67,622,392 (GRCm39) |
Y302C |
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 |
|
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 |
|
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'- AGGTCAGATCAGGAAACCCC -3'
(R):5'- CCTTCAGATGCATCAGCTGC -3'
Sequencing Primer
(F):5'- TCCATACACAGAGCCAGGAAGAG -3'
(R):5'- CTGCTTCAGCTTCTCCTCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation