Incidental Mutation 'R2432:Def6'
ID |
250473 |
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 |
040393-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2432 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
28426752-28447582 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 28447043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 558
(D558V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002327
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002320]
[ENSMUST00000002327]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002320
|
SMART Domains |
Protein: ENSMUSP00000002320 Gene: ENSMUSG00000002250
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
ZnF_C4
|
70 |
140 |
1.58e-33 |
SMART |
Blast:HOLI
|
183 |
208 |
1e-6 |
BLAST |
HOLI
|
250 |
409 |
1.36e-23 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000002327
AA Change: D558V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000002327 Gene: ENSMUSG00000002257 AA Change: D558V
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 |
noncoding transcript
Transcript: ENSMUST00000123020
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142226
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166744
|
Meta Mutation Damage Score |
0.0905 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (53/53) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,401,333 (GRCm39) |
|
probably benign |
Het |
Adamts6 |
A |
T |
13: 104,563,485 (GRCm39) |
Y659F |
probably benign |
Het |
Adamts9 |
C |
A |
6: 92,834,881 (GRCm39) |
G750W |
probably damaging |
Het |
Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
Aspscr1 |
A |
G |
11: 120,593,392 (GRCm39) |
|
probably benign |
Het |
Calr3 |
A |
G |
8: 73,192,270 (GRCm39) |
|
probably benign |
Het |
Cpt2 |
A |
T |
4: 107,761,723 (GRCm39) |
Y126* |
probably null |
Het |
Cyp2d34 |
A |
G |
15: 82,503,212 (GRCm39) |
L94P |
probably damaging |
Het |
Dnase1l2 |
G |
A |
17: 24,661,699 (GRCm39) |
T20I |
possibly damaging |
Het |
Eif5b |
A |
G |
1: 38,058,423 (GRCm39) |
K242E |
unknown |
Het |
Golim4 |
T |
C |
3: 75,799,249 (GRCm39) |
N478S |
possibly damaging |
Het |
Helb |
A |
T |
10: 119,941,442 (GRCm39) |
D415E |
probably benign |
Het |
Ifna12 |
T |
A |
4: 88,521,590 (GRCm39) |
|
probably benign |
Het |
Jhy |
T |
A |
9: 40,872,182 (GRCm39) |
H109L |
probably benign |
Het |
Krt87 |
A |
T |
15: 101,386,037 (GRCm39) |
Y241* |
probably null |
Het |
Macf1 |
G |
T |
4: 123,577,789 (GRCm39) |
A65E |
probably damaging |
Het |
Mug2 |
C |
A |
6: 122,061,335 (GRCm39) |
N1418K |
possibly damaging |
Het |
Myo1f |
A |
G |
17: 33,794,823 (GRCm39) |
D21G |
probably damaging |
Het |
Myo5a |
T |
A |
9: 75,120,155 (GRCm39) |
I1651N |
possibly damaging |
Het |
Notch3 |
A |
T |
17: 32,372,778 (GRCm39) |
C598S |
probably damaging |
Het |
Npat |
A |
T |
9: 53,469,435 (GRCm39) |
H307L |
probably damaging |
Het |
Nr1h2 |
T |
C |
7: 44,200,791 (GRCm39) |
Q279R |
possibly damaging |
Het |
Or4k52 |
T |
C |
2: 111,611,016 (GRCm39) |
V117A |
probably benign |
Het |
Or6c6c |
A |
G |
10: 129,540,794 (GRCm39) |
T16A |
possibly damaging |
Het |
Pcdhb16 |
A |
T |
18: 37,612,983 (GRCm39) |
N648Y |
probably damaging |
Het |
Pdzrn3 |
G |
T |
6: 101,127,752 (GRCm39) |
S971R |
probably damaging |
Het |
Plch2 |
A |
G |
4: 155,070,621 (GRCm39) |
*494Q |
probably null |
Het |
Plekhg4 |
T |
A |
8: 106,108,468 (GRCm39) |
D1170E |
probably benign |
Het |
Plekhm3 |
A |
G |
1: 64,977,015 (GRCm39) |
S152P |
probably damaging |
Het |
Ppargc1b |
G |
A |
18: 61,440,870 (GRCm39) |
P683S |
possibly damaging |
Het |
Prdm12 |
T |
G |
2: 31,541,864 (GRCm39) |
M191R |
probably benign |
Het |
Prdm14 |
T |
C |
1: 13,195,857 (GRCm39) |
D68G |
probably benign |
Het |
Prp2 |
C |
T |
6: 132,576,874 (GRCm39) |
P54S |
unknown |
Het |
Prpf4b |
A |
G |
13: 35,067,324 (GRCm39) |
|
probably benign |
Het |
Ptprk |
T |
A |
10: 28,468,840 (GRCm39) |
V1408E |
probably damaging |
Het |
Rap1gds1 |
A |
G |
3: 138,662,011 (GRCm39) |
M415T |
probably damaging |
Het |
Rps6ka5 |
A |
G |
12: 100,520,664 (GRCm39) |
F621S |
probably damaging |
Het |
Rrm1 |
T |
A |
7: 102,092,279 (GRCm39) |
D35E |
probably benign |
Het |
Rxfp3 |
T |
C |
15: 11,036,226 (GRCm39) |
H382R |
probably damaging |
Het |
Slc11a1 |
A |
G |
1: 74,422,910 (GRCm39) |
|
probably benign |
Het |
Slc25a13 |
A |
T |
6: 6,114,017 (GRCm39) |
M285K |
probably benign |
Het |
Slc30a3 |
T |
C |
5: 31,246,038 (GRCm39) |
S231G |
probably damaging |
Het |
Slc44a2 |
A |
T |
9: 21,256,130 (GRCm39) |
I274F |
probably damaging |
Het |
Tas2r119 |
A |
G |
15: 32,178,165 (GRCm39) |
I244V |
possibly damaging |
Het |
Tenm2 |
C |
A |
11: 35,918,018 (GRCm39) |
R1914L |
probably damaging |
Het |
Tfdp2 |
T |
C |
9: 96,192,643 (GRCm39) |
M242T |
probably damaging |
Het |
Tmprss6 |
A |
G |
15: 78,349,304 (GRCm39) |
|
probably benign |
Het |
Ttc6 |
C |
T |
12: 57,668,821 (GRCm39) |
P421L |
possibly damaging |
Het |
Usp16 |
T |
A |
16: 87,263,246 (GRCm39) |
|
probably null |
Het |
Usp40 |
T |
C |
1: 87,909,804 (GRCm39) |
E550G |
probably benign |
Het |
Vmn2r28 |
T |
C |
7: 5,491,701 (GRCm39) |
Y182C |
probably damaging |
Het |
Zfp382 |
A |
G |
7: 29,833,174 (GRCm39) |
D275G |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGATGAACAGGCTCATGCATC -3'
(R):5'- TCTTCCTGAGAGGCCAAAGC -3'
Sequencing Primer
(F):5'- TCATGCATCCGATCGAGC -3'
(R):5'- CAAAGCTAGGATGGGAGTCTCATCTC -3'
|
Posted On |
2014-11-12 |