Incidental Mutation 'R3432:Efs'
ID |
266250 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Efs
|
Ensembl Gene |
ENSMUSG00000022203 |
Gene Name |
embryonal Fyn-associated substrate |
Synonyms |
|
MMRRC Submission |
040650-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
R3432 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55153992-55163583 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 55157681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 117
(R117Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154657
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022813]
[ENSMUST00000227037]
[ENSMUST00000227587]
|
AlphaFold |
Q64355 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022813
AA Change: R210Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022813 Gene: ENSMUSG00000022203 AA Change: R210Q
Domain | Start | End | E-Value | Type |
SH3
|
8 |
67 |
5.15e-19 |
SMART |
low complexity region
|
201 |
215 |
N/A |
INTRINSIC |
low complexity region
|
255 |
273 |
N/A |
INTRINSIC |
low complexity region
|
305 |
325 |
N/A |
INTRINSIC |
low complexity region
|
335 |
351 |
N/A |
INTRINSIC |
Pfam:DUF3513
|
370 |
555 |
9.2e-53 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227037
AA Change: R117Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227587
|
Meta Mutation Damage Score |
0.2071 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
98% (44/45) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The longest protein isoform encoded by this gene contains an SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to bind to SH3 domains of protein-tyrosine kinases. The function of this gene is unknown. Three alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2013] PHENOTYPE: Mice homozygous for a disruption in this gene display an increased inflammatory response characterized by excessive T cell responses, enhanced cytokine secretion and antibody production, and intestinal, kidney, liver, and lung inflammation. [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 |
Actr3 |
G |
A |
1: 125,321,776 (GRCm39) |
P405S |
probably damaging |
Het |
Adamts3 |
A |
G |
5: 89,855,312 (GRCm39) |
|
probably benign |
Het |
Angptl2 |
T |
C |
2: 33,118,814 (GRCm39) |
V196A |
probably benign |
Het |
Aoc1 |
A |
T |
6: 48,882,778 (GRCm39) |
H240L |
probably damaging |
Het |
Arsj |
A |
T |
3: 126,158,624 (GRCm39) |
T68S |
probably benign |
Het |
Atp8b3 |
T |
C |
10: 80,362,014 (GRCm39) |
K708E |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Ceacam5 |
T |
A |
7: 17,448,901 (GRCm39) |
V89E |
probably benign |
Het |
Cpt1b |
T |
C |
15: 89,307,944 (GRCm39) |
E205G |
possibly damaging |
Het |
Dhrs7c |
C |
T |
11: 67,700,699 (GRCm39) |
T82I |
probably benign |
Het |
Evl |
T |
C |
12: 108,614,567 (GRCm39) |
|
probably benign |
Het |
Fam89b |
A |
T |
19: 5,781,761 (GRCm39) |
|
probably null |
Het |
Fbxo16 |
T |
C |
14: 65,531,233 (GRCm39) |
F46L |
probably damaging |
Het |
Glp1r |
T |
A |
17: 31,143,531 (GRCm39) |
L189H |
probably damaging |
Het |
Gstp1 |
G |
A |
19: 4,086,695 (GRCm39) |
T110I |
possibly damaging |
Het |
Hbq1a |
T |
G |
11: 32,250,715 (GRCm39) |
S133A |
probably benign |
Het |
Hhipl1 |
A |
G |
12: 108,277,948 (GRCm39) |
E92G |
probably damaging |
Het |
Il18r1 |
C |
T |
1: 40,526,249 (GRCm39) |
T265M |
probably damaging |
Het |
Lpp |
T |
C |
16: 24,708,636 (GRCm39) |
V447A |
probably benign |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Mmel1 |
C |
T |
4: 154,969,955 (GRCm39) |
|
probably benign |
Het |
Myo5c |
A |
G |
9: 75,170,283 (GRCm39) |
E471G |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,922,003 (GRCm39) |
L317P |
probably damaging |
Het |
Or8b57 |
A |
T |
9: 40,003,845 (GRCm39) |
M139K |
probably damaging |
Het |
Psg18 |
A |
G |
7: 18,083,096 (GRCm39) |
V232A |
possibly damaging |
Het |
Ptprt |
T |
C |
2: 161,769,449 (GRCm39) |
E472G |
probably damaging |
Het |
Rap2a |
G |
T |
14: 120,741,170 (GRCm39) |
A158S |
possibly damaging |
Het |
Rbm15 |
A |
T |
3: 107,237,993 (GRCm39) |
S802T |
probably benign |
Het |
Sec14l5 |
A |
G |
16: 4,996,463 (GRCm39) |
I470V |
possibly damaging |
Het |
Serpinb1a |
T |
C |
13: 33,026,842 (GRCm39) |
T367A |
possibly damaging |
Het |
Sirpb1a |
A |
G |
3: 15,491,447 (GRCm39) |
W7R |
probably damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Taf5 |
A |
C |
19: 47,064,272 (GRCm39) |
K405T |
probably damaging |
Het |
Tbc1d19 |
T |
C |
5: 54,005,548 (GRCm39) |
|
probably benign |
Het |
Trim58 |
T |
C |
11: 58,537,787 (GRCm39) |
|
probably benign |
Het |
Tssk4 |
A |
G |
14: 55,889,152 (GRCm39) |
N226S |
probably damaging |
Het |
Uggt1 |
C |
A |
1: 36,249,140 (GRCm39) |
E267* |
probably null |
Het |
Zdhhc23 |
T |
A |
16: 43,794,533 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
G |
A |
18: 84,226,871 (GRCm39) |
A2246V |
probably damaging |
Het |
Zfp872 |
C |
T |
9: 22,111,750 (GRCm39) |
R410* |
probably null |
Het |
|
Other mutations in Efs |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02176:Efs
|
APN |
14 |
55,158,499 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02720:Efs
|
APN |
14 |
55,157,172 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02752:Efs
|
APN |
14 |
55,154,880 (GRCm39) |
missense |
probably damaging |
0.96 |
R0129:Efs
|
UTSW |
14 |
55,154,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:Efs
|
UTSW |
14 |
55,157,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R1927:Efs
|
UTSW |
14 |
55,154,620 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2327:Efs
|
UTSW |
14 |
55,154,961 (GRCm39) |
missense |
probably benign |
0.01 |
R3431:Efs
|
UTSW |
14 |
55,157,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R3615:Efs
|
UTSW |
14 |
55,157,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R3616:Efs
|
UTSW |
14 |
55,157,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R3756:Efs
|
UTSW |
14 |
55,157,879 (GRCm39) |
splice site |
probably benign |
|
R3945:Efs
|
UTSW |
14 |
55,158,108 (GRCm39) |
splice site |
probably benign |
|
R4448:Efs
|
UTSW |
14 |
55,157,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R4717:Efs
|
UTSW |
14 |
55,157,801 (GRCm39) |
missense |
probably damaging |
0.99 |
R4819:Efs
|
UTSW |
14 |
55,154,610 (GRCm39) |
missense |
probably damaging |
0.98 |
R5656:Efs
|
UTSW |
14 |
55,154,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R5946:Efs
|
UTSW |
14 |
55,156,951 (GRCm39) |
splice site |
probably null |
|
R6054:Efs
|
UTSW |
14 |
55,158,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R7457:Efs
|
UTSW |
14 |
55,157,451 (GRCm39) |
missense |
probably benign |
|
R7822:Efs
|
UTSW |
14 |
55,154,907 (GRCm39) |
missense |
probably benign |
0.09 |
R7970:Efs
|
UTSW |
14 |
55,157,960 (GRCm39) |
critical splice donor site |
probably null |
|
R8166:Efs
|
UTSW |
14 |
55,158,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R8347:Efs
|
UTSW |
14 |
55,157,241 (GRCm39) |
missense |
probably benign |
0.28 |
R8896:Efs
|
UTSW |
14 |
55,157,756 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9438:Efs
|
UTSW |
14 |
55,156,868 (GRCm39) |
missense |
|
|
R9703:Efs
|
UTSW |
14 |
55,156,871 (GRCm39) |
missense |
possibly damaging |
0.88 |
X0028:Efs
|
UTSW |
14 |
55,158,078 (GRCm39) |
nonsense |
probably null |
|
Z1176:Efs
|
UTSW |
14 |
55,157,793 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTCAGTGGATGGTAGCCTG -3'
(R):5'- GTCTATGATGTGCCTCCCAAC -3'
Sequencing Primer
(F):5'- ACAGTGTCCAGGTCAGTGG -3'
(R):5'- AACATCCTCCGGGCTCC -3'
|
Posted On |
2015-02-18 |