Incidental Mutation 'R8229:Def6'
| ID |
640961 |
| 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 |
067645-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8229 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
28426752-28447582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28436729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 131
(D131G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002327]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002327
AA Change: D131G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: D131G
| 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 |
|
| Meta Mutation Damage Score |
0.4180 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
A |
T |
8: 25,201,754 (GRCm39) |
M203K |
probably damaging |
Het |
| Arhgap23 |
G |
A |
11: 97,344,732 (GRCm39) |
V565I |
probably benign |
Het |
| D6Wsu163e |
G |
T |
6: 126,943,966 (GRCm39) |
R454L |
probably benign |
Het |
| Erc1 |
T |
C |
6: 119,730,249 (GRCm39) |
T616A |
probably benign |
Het |
| Ermard |
T |
A |
17: 15,279,596 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,808,487 (GRCm39) |
L1602P |
possibly damaging |
Het |
| Gli1 |
C |
T |
10: 127,168,317 (GRCm39) |
R512Q |
possibly damaging |
Het |
| Gm6034 |
A |
G |
17: 36,367,268 (GRCm39) |
T38A |
unknown |
Het |
| H2-M10.1 |
T |
C |
17: 36,634,931 (GRCm39) |
I325V |
probably benign |
Het |
| Inf2 |
A |
G |
12: 112,578,030 (GRCm39) |
D1107G |
unknown |
Het |
| Iws1 |
A |
G |
18: 32,217,740 (GRCm39) |
N448S |
probably benign |
Het |
| Klhl24 |
T |
C |
16: 19,933,321 (GRCm39) |
Y311H |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,540,608 (GRCm39) |
A304V |
probably benign |
Het |
| Limch1 |
A |
G |
5: 67,186,138 (GRCm39) |
E646G |
probably damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,754,402 (GRCm39) |
V59E |
probably benign |
Het |
| Lrrn4 |
G |
A |
2: 132,711,807 (GRCm39) |
T672I |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,923,017 (GRCm39) |
E1233D |
possibly damaging |
Het |
| Magi3 |
T |
C |
3: 103,923,018 (GRCm39) |
E1233G |
probably benign |
Het |
| Mgat5b |
A |
T |
11: 116,838,213 (GRCm39) |
K284M |
probably benign |
Het |
| Nedd4 |
G |
T |
9: 72,638,670 (GRCm39) |
K485N |
probably benign |
Het |
| Or4c114 |
T |
A |
2: 88,905,382 (GRCm39) |
N18Y |
possibly damaging |
Het |
| Or5b101 |
A |
G |
19: 13,005,561 (GRCm39) |
I44T |
possibly damaging |
Het |
| Or5p57 |
C |
T |
7: 107,665,794 (GRCm39) |
M70I |
probably benign |
Het |
| Or5w17 |
A |
T |
2: 87,583,408 (GRCm39) |
C310S |
probably benign |
Het |
| Otud4 |
A |
G |
8: 80,400,604 (GRCm39) |
H1106R |
unknown |
Het |
| Pcdha7 |
C |
A |
18: 37,107,776 (GRCm39) |
S267* |
probably null |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,671 (GRCm39) |
I334V |
probably benign |
Het |
| Phf11b |
A |
T |
14: 59,568,730 (GRCm39) |
L61Q |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,388,689 (GRCm39) |
D138G |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,484,622 (GRCm39) |
V1592A |
probably damaging |
Het |
| Smc6 |
T |
A |
12: 11,341,673 (GRCm39) |
S564T |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,522 (GRCm39) |
V469A |
probably benign |
Het |
| Trim11 |
G |
A |
11: 58,872,167 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
T |
A |
3: 146,607,204 (GRCm39) |
I158K |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,367,463 (GRCm39) |
E402G |
probably damaging |
Het |
| Usp33 |
T |
C |
3: 152,075,929 (GRCm39) |
V383A |
probably benign |
Het |
| Ythdc1 |
A |
G |
5: 86,957,167 (GRCm39) |
|
probably benign |
Het |
| Ywhab |
T |
G |
2: 163,856,015 (GRCm39) |
Y130* |
probably null |
Het |
| Zfp609 |
T |
C |
9: 65,610,782 (GRCm39) |
K727R |
possibly damaging |
Het |
| Zscan30 |
A |
C |
18: 24,104,737 (GRCm39) |
L37R |
noncoding transcript |
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 |
|
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 |
|
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'- CTGTAGATGAACCCACGAAGGTAG -3'
(R):5'- CTGAGAACTTGCAGAGTCCC -3'
Sequencing Primer
(F):5'- ACCCACGAAGGTAGGCTGG -3'
(R):5'- GAACGCCCAATGATACTCT -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation