Incidental Mutation 'IGL02176:Efs'
ID |
283125 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Efs
|
Ensembl Gene |
ENSMUSG00000022203 |
Gene Name |
embryonal Fyn-associated substrate |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
IGL02176
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
55153992-55163583 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 55158499 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 53
(G53D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022813
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022813]
[ENSMUST00000227037]
[ENSMUST00000227587]
|
AlphaFold |
Q64355 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022813
AA Change: G53D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022813 Gene: ENSMUSG00000022203 AA Change: G53D
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 benign
Transcript: ENSMUST00000227037
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227587
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
G |
T |
10: 20,846,815 (GRCm39) |
R415L |
probably benign |
Het |
Ankle1 |
C |
A |
8: 71,858,903 (GRCm39) |
H45Q |
probably damaging |
Het |
Anks1b |
A |
T |
10: 89,878,530 (GRCm39) |
H113L |
probably damaging |
Het |
Arhgap33 |
T |
A |
7: 30,223,476 (GRCm39) |
H851L |
possibly damaging |
Het |
Atp12a |
C |
T |
14: 56,624,636 (GRCm39) |
S972L |
probably damaging |
Het |
Atrip |
T |
C |
9: 108,896,114 (GRCm39) |
D301G |
probably benign |
Het |
Bckdk |
A |
G |
7: 127,505,545 (GRCm39) |
T223A |
probably benign |
Het |
C3 |
C |
A |
17: 57,533,337 (GRCm39) |
|
probably benign |
Het |
C8g |
A |
G |
2: 25,389,122 (GRCm39) |
S154P |
probably damaging |
Het |
Casz1 |
A |
G |
4: 149,019,076 (GRCm39) |
D459G |
probably damaging |
Het |
Cdca7 |
A |
G |
2: 72,314,988 (GRCm39) |
T293A |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,226,658 (GRCm39) |
D2810V |
probably damaging |
Het |
CN725425 |
G |
A |
15: 91,130,024 (GRCm39) |
V296I |
probably benign |
Het |
Col17a1 |
A |
G |
19: 47,639,658 (GRCm39) |
M1077T |
probably benign |
Het |
Ddhd1 |
A |
T |
14: 45,854,057 (GRCm39) |
H426Q |
probably damaging |
Het |
Dpp6 |
C |
T |
5: 27,928,575 (GRCm39) |
T799M |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,890,371 (GRCm39) |
V221A |
probably benign |
Het |
Gabre |
G |
A |
X: 71,318,259 (GRCm39) |
Q17* |
probably null |
Het |
Gpld1 |
T |
C |
13: 25,168,192 (GRCm39) |
|
probably null |
Het |
Gpr107 |
T |
A |
2: 31,058,858 (GRCm39) |
V116D |
probably benign |
Het |
Huwe1 |
T |
C |
X: 150,686,964 (GRCm39) |
S2283P |
possibly damaging |
Het |
Ksr1 |
A |
G |
11: 78,911,617 (GRCm39) |
S722P |
probably benign |
Het |
Lmbrd2 |
A |
G |
15: 9,182,661 (GRCm39) |
E532G |
probably damaging |
Het |
Lrfn1 |
T |
C |
7: 28,158,111 (GRCm39) |
|
probably benign |
Het |
Lrrc4c |
A |
G |
2: 97,460,598 (GRCm39) |
D408G |
probably damaging |
Het |
Mbp |
A |
G |
18: 82,572,670 (GRCm39) |
E122G |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,777,836 (GRCm39) |
D1197E |
probably benign |
Het |
Ncor1 |
A |
T |
11: 62,220,485 (GRCm39) |
|
probably benign |
Het |
Or2y17 |
A |
G |
11: 49,232,133 (GRCm39) |
Y258C |
probably benign |
Het |
Pdcd1lg2 |
A |
G |
19: 29,414,732 (GRCm39) |
E53G |
probably benign |
Het |
Phex |
G |
T |
X: 156,051,489 (GRCm39) |
A469E |
probably damaging |
Het |
Pigo |
A |
G |
4: 43,019,352 (GRCm39) |
S957P |
probably benign |
Het |
Ppargc1b |
T |
A |
18: 61,443,946 (GRCm39) |
R406* |
probably null |
Het |
Ppargc1b |
C |
A |
18: 61,443,945 (GRCm39) |
R422I |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Thnsl1 |
G |
T |
2: 21,216,665 (GRCm39) |
A140S |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,235,076 (GRCm39) |
|
probably benign |
Het |
Tma7 |
T |
A |
9: 108,911,153 (GRCm39) |
|
probably benign |
Het |
Tmtc2 |
T |
G |
10: 105,184,354 (GRCm39) |
S514R |
probably benign |
Het |
Unc79 |
G |
A |
12: 102,965,006 (GRCm39) |
|
probably null |
Het |
Wdr89 |
A |
T |
12: 75,679,897 (GRCm39) |
I119N |
probably damaging |
Het |
Wiz |
C |
A |
17: 32,575,876 (GRCm39) |
R843S |
probably damaging |
Het |
Zfp275 |
T |
A |
X: 72,396,889 (GRCm39) |
S12T |
probably damaging |
Het |
|
Other mutations in Efs |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R3432: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 |
|
|
Posted On |
2015-04-16 |