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: 0.137)
|
| 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 |
Incidental Mutation