Incidental Mutation 'IGL02471:Ermap'
| ID |
294743 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ermap
|
| Ensembl Gene |
ENSMUSG00000028644 |
| Gene Name |
erythroblast membrane-associated protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02471
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
119032654-119047208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119037160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 353
(H353Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030396]
[ENSMUST00000138395]
|
| AlphaFold |
Q9JLN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030396
|
| SMART Domains |
Protein: ENSMUSP00000030396
Gene: ENSMUSG00000028644
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
68 |
151 |
9.26e-8 |
SMART |
|
Blast:IG_like
|
174 |
260 |
1e-19 |
BLAST |
|
transmembrane domain
|
272 |
294 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137080
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138395
AA Change: H353Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123426
Gene: ENSMUSG00000028644
AA Change: H353Y
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
68 |
151 |
9.26e-8 |
SMART |
|
transmembrane domain
|
272 |
294 |
N/A |
INTRINSIC |
|
coiled coil region
|
304 |
342 |
N/A |
INTRINSIC |
|
PRY
|
354 |
406 |
1.15e-27 |
SMART |
|
SPRY
|
407 |
532 |
3.25e-28 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,297,357 (GRCm39) |
H2378N |
probably benign |
Het |
| Btaf1 |
C |
A |
19: 36,977,592 (GRCm39) |
A1470E |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,394,793 (GRCm39) |
D228G |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,578,128 (GRCm39) |
D205G |
probably benign |
Het |
| Clip2 |
T |
C |
5: 134,546,876 (GRCm39) |
T231A |
probably benign |
Het |
| Cltc |
A |
G |
11: 86,608,860 (GRCm39) |
V723A |
probably damaging |
Het |
| Cpa3 |
C |
T |
3: 20,282,971 (GRCm39) |
|
probably null |
Het |
| Cyfip2 |
T |
G |
11: 46,091,630 (GRCm39) |
T1097P |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,838,444 (GRCm39) |
R667* |
probably null |
Het |
| Dock10 |
T |
C |
1: 80,493,339 (GRCm39) |
E1878G |
probably damaging |
Het |
| Etfa |
A |
T |
9: 55,393,984 (GRCm39) |
|
probably null |
Het |
| F5 |
C |
T |
1: 164,001,860 (GRCm39) |
P188S |
probably damaging |
Het |
| Foxq1 |
G |
A |
13: 31,743,326 (GRCm39) |
E143K |
possibly damaging |
Het |
| Gsr |
C |
T |
8: 34,172,612 (GRCm39) |
|
probably benign |
Het |
| Hebp1 |
T |
A |
6: 135,132,274 (GRCm39) |
Y31F |
probably benign |
Het |
| Ighv1-14 |
T |
C |
12: 114,610,457 (GRCm39) |
|
noncoding transcript |
Het |
| Lamb1 |
T |
A |
12: 31,370,907 (GRCm39) |
D1319E |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,652,408 (GRCm39) |
V1154E |
probably benign |
Het |
| Manba |
G |
A |
3: 135,212,769 (GRCm39) |
|
probably benign |
Het |
| Mknk2 |
A |
T |
10: 80,503,955 (GRCm39) |
F319I |
probably damaging |
Het |
| Mup6 |
A |
T |
4: 60,003,971 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,560,726 (GRCm39) |
T784A |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,279,721 (GRCm39) |
E107G |
probably benign |
Het |
| Or11h6 |
A |
T |
14: 50,880,214 (GRCm39) |
I159F |
probably benign |
Het |
| Or56b34 |
T |
A |
7: 104,938,252 (GRCm39) |
F317L |
probably benign |
Het |
| Or9q2 |
G |
A |
19: 13,772,589 (GRCm39) |
P129S |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,622,530 (GRCm39) |
E41G |
probably damaging |
Het |
| Ptk2 |
T |
C |
15: 73,170,036 (GRCm39) |
D309G |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,325,207 (GRCm39) |
S367P |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,310,275 (GRCm39) |
N224K |
probably benign |
Het |
| Rchy1 |
A |
T |
5: 92,105,405 (GRCm39) |
C65* |
probably null |
Het |
| Rgs18 |
T |
C |
1: 144,650,359 (GRCm39) |
D56G |
probably benign |
Het |
| Rtraf |
A |
C |
14: 19,862,296 (GRCm39) |
L197R |
probably damaging |
Het |
| Slc44a5 |
G |
T |
3: 153,962,213 (GRCm39) |
W382L |
probably damaging |
Het |
| Snx24 |
C |
T |
18: 53,518,241 (GRCm39) |
|
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,253,897 (GRCm39) |
D1284G |
probably damaging |
Het |
| Tmem54 |
A |
G |
4: 129,002,111 (GRCm39) |
M53V |
probably benign |
Het |
| Trip6 |
G |
A |
5: 137,308,618 (GRCm39) |
P414S |
probably benign |
Het |
| Vmn1r38 |
A |
G |
6: 66,753,751 (GRCm39) |
Y122H |
probably benign |
Het |
| Wapl |
T |
A |
14: 34,413,877 (GRCm39) |
N246K |
possibly damaging |
Het |
| Zfp12 |
G |
A |
5: 143,230,551 (GRCm39) |
G293R |
probably damaging |
Het |
| Zfp13 |
C |
T |
17: 23,795,072 (GRCm39) |
A493T |
probably benign |
Het |
| Zfp446 |
T |
G |
7: 12,716,181 (GRCm39) |
V209G |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
| Other mutations in Ermap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Ermap
|
APN |
4 |
119,041,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01402:Ermap
|
APN |
4 |
119,044,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02696:Ermap
|
APN |
4 |
119,044,904 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02806:Ermap
|
APN |
4 |
119,046,113 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Ermine
|
UTSW |
4 |
119,035,706 (GRCm39) |
nonsense |
probably null |
|
|
Mink
|
UTSW |
4 |
119,045,445 (GRCm39) |
intron |
probably benign |
|
|
Weasel
|
UTSW |
4 |
119,044,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0017:Ermap
|
UTSW |
4 |
119,037,145 (GRCm39) |
splice site |
probably benign |
|
|
R0645:Ermap
|
UTSW |
4 |
119,042,888 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0737:Ermap
|
UTSW |
4 |
119,035,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1204:Ermap
|
UTSW |
4 |
119,046,064 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1239:Ermap
|
UTSW |
4 |
119,046,122 (GRCm39) |
missense |
probably benign |
|
|
R1351:Ermap
|
UTSW |
4 |
119,038,558 (GRCm39) |
splice site |
probably null |
|
|
R1597:Ermap
|
UTSW |
4 |
119,041,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4128:Ermap
|
UTSW |
4 |
119,044,308 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4588:Ermap
|
UTSW |
4 |
119,045,445 (GRCm39) |
intron |
probably benign |
|
|
R4853:Ermap
|
UTSW |
4 |
119,044,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Ermap
|
UTSW |
4 |
119,046,015 (GRCm39) |
intron |
probably benign |
|
|
R4946:Ermap
|
UTSW |
4 |
119,040,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5187:Ermap
|
UTSW |
4 |
119,043,015 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6275:Ermap
|
UTSW |
4 |
119,035,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6301:Ermap
|
UTSW |
4 |
119,042,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:Ermap
|
UTSW |
4 |
119,035,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6896:Ermap
|
UTSW |
4 |
119,044,328 (GRCm39) |
nonsense |
probably null |
|
|
R6997:Ermap
|
UTSW |
4 |
119,035,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7445:Ermap
|
UTSW |
4 |
119,045,907 (GRCm39) |
missense |
unknown |
|
|
R8193:Ermap
|
UTSW |
4 |
119,041,140 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8711:Ermap
|
UTSW |
4 |
119,044,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9026:Ermap
|
UTSW |
4 |
119,035,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Ermap
|
UTSW |
4 |
119,035,706 (GRCm39) |
nonsense |
probably null |
|
|
R9301:Ermap
|
UTSW |
4 |
119,042,744 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9335:Ermap
|
UTSW |
4 |
119,035,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ermap
|
UTSW |
4 |
119,042,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation