Incidental Mutation 'R9684:Def6'
| ID |
728768 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9684 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28426752-28447582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28436044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 68
(Y68H)
|
| 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: Y68H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: Y68H
| 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: 99.9%
- 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,283,307 (GRCm39) |
D3243V |
probably damaging |
Het |
| Acot3 |
T |
C |
12: 84,105,650 (GRCm39) |
L281P |
probably benign |
Het |
| Asb4 |
A |
C |
6: 5,398,296 (GRCm39) |
H87P |
probably damaging |
Het |
| Ccnt1 |
A |
T |
15: 98,446,566 (GRCm39) |
Y175N |
probably damaging |
Het |
| Cdh11 |
A |
G |
8: 103,391,327 (GRCm39) |
V303A |
probably benign |
Het |
| Cdk19 |
T |
A |
10: 40,351,594 (GRCm39) |
M297K |
probably damaging |
Het |
| Ces2c |
A |
C |
8: 105,574,699 (GRCm39) |
D52A |
probably benign |
Het |
| Cox10 |
C |
T |
11: 63,855,207 (GRCm39) |
R358H |
probably damaging |
Het |
| Cryzl1 |
A |
G |
16: 91,487,634 (GRCm39) |
I302T |
probably benign |
Het |
| Dolpp1 |
A |
G |
2: 30,285,748 (GRCm39) |
I49V |
possibly damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,753,329 (GRCm39) |
D357G |
possibly damaging |
Het |
| Ermp1 |
G |
T |
19: 29,594,106 (GRCm39) |
T688N |
probably benign |
Het |
| F830016B08Rik |
T |
C |
18: 60,433,043 (GRCm39) |
I42T |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,240,327 (GRCm39) |
E15G |
possibly damaging |
Het |
| Ghdc |
A |
G |
11: 100,661,091 (GRCm39) |
S25P |
probably benign |
Het |
| Gm45861 |
A |
G |
8: 28,014,601 (GRCm39) |
N613S |
unknown |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Gzmf |
T |
A |
14: 56,444,444 (GRCm39) |
D43V |
probably benign |
Het |
| Hdac10 |
C |
A |
15: 89,011,402 (GRCm39) |
D172Y |
probably damaging |
Het |
| Krt32 |
T |
A |
11: 99,977,308 (GRCm39) |
R197S |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,849,038 (GRCm39) |
D215G |
probably damaging |
Het |
| M1ap |
C |
A |
6: 82,945,094 (GRCm39) |
H129Q |
probably benign |
Het |
| Mfsd3 |
A |
G |
15: 76,587,183 (GRCm39) |
D312G |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,364,798 (GRCm39) |
D2628G |
probably benign |
Het |
| Myoz3 |
T |
C |
18: 60,712,026 (GRCm39) |
D184G |
possibly damaging |
Het |
| Ncor2 |
A |
G |
5: 125,102,139 (GRCm39) |
L1217P |
|
Het |
| Nepn |
T |
C |
10: 52,276,801 (GRCm39) |
V179A |
probably benign |
Het |
| Niban1 |
T |
A |
1: 151,593,538 (GRCm39) |
I741N |
possibly damaging |
Het |
| Npr2 |
T |
C |
4: 43,632,491 (GRCm39) |
Y103H |
probably damaging |
Het |
| Oosp3 |
A |
T |
19: 11,682,806 (GRCm39) |
K158M |
probably benign |
Het |
| Or51i1 |
C |
A |
7: 103,671,079 (GRCm39) |
G149C |
probably damaging |
Het |
| Or56a3 |
A |
G |
7: 104,735,589 (GRCm39) |
Y222C |
|
Het |
| Orc3 |
G |
A |
4: 34,607,135 (GRCm39) |
T65I |
probably benign |
Het |
| Pcdhga7 |
T |
C |
18: 37,848,667 (GRCm39) |
S225P |
probably damaging |
Het |
| Pcsk9 |
G |
T |
4: 106,307,386 (GRCm39) |
L286I |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pnma1 |
T |
C |
12: 84,193,941 (GRCm39) |
Y254C |
probably benign |
Het |
| Ppm1k |
T |
A |
6: 57,487,762 (GRCm39) |
N354Y |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,659,485 (GRCm39) |
T2012A |
possibly damaging |
Het |
| Selp |
T |
A |
1: 163,953,858 (GRCm39) |
W53R |
probably damaging |
Het |
| Slc10a7 |
T |
A |
8: 79,456,304 (GRCm39) |
V302E |
possibly damaging |
Het |
| Slc25a32 |
T |
C |
15: 38,969,339 (GRCm39) |
I65V |
probably benign |
Het |
| Spesp1 |
A |
G |
9: 62,180,545 (GRCm39) |
F121S |
probably damaging |
Het |
| Syncrip |
T |
C |
9: 88,361,671 (GRCm39) |
T110A |
probably benign |
Het |
| Tc2n |
T |
C |
12: 101,660,818 (GRCm39) |
D138G |
probably benign |
Het |
| Tnfrsf9 |
C |
T |
4: 151,018,865 (GRCm39) |
P179S |
probably benign |
Het |
| Ube2r2 |
A |
G |
4: 41,183,329 (GRCm39) |
T117A |
probably benign |
Het |
| Ush2a |
A |
C |
1: 188,132,078 (GRCm39) |
K767Q |
possibly damaging |
Het |
| Vdr |
A |
G |
15: 97,767,285 (GRCm39) |
V161A |
probably benign |
Het |
| Vmn1r33 |
T |
C |
6: 66,589,075 (GRCm39) |
T160A |
possibly damaging |
Het |
| Vmn1r63 |
A |
G |
7: 5,805,913 (GRCm39) |
S240P |
probably benign |
Het |
| Vmp1 |
T |
C |
11: 86,476,156 (GRCm39) |
N400S |
probably benign |
Het |
| Zfp599 |
G |
A |
9: 22,160,824 (GRCm39) |
T447I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGAGAACTCAGTCGAGG -3'
(R):5'- TTGGATGGCAACTGCAGATTG -3'
Sequencing Primer
(F):5'- GCAAACAAGATGGACTCATAGTC -3'
(R):5'- GCAACTGCAGATTGAGGAGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation