Incidental Mutation 'R6301:Ermap'
| ID |
509083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ermap
|
| Ensembl Gene |
ENSMUSG00000028644 |
| Gene Name |
erythroblast membrane-associated protein |
| Synonyms |
|
| MMRRC Submission |
044466-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6301 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
119175457-119190011 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119185603 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 241
(V241E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030396]
[ENSMUST00000124626]
[ENSMUST00000133956]
[ENSMUST00000138395]
[ENSMUST00000141227]
[ENSMUST00000150864]
[ENSMUST00000156746]
|
| AlphaFold |
Q9JLN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030396
AA Change: V241E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030396
Gene: ENSMUSG00000028644
AA Change: V241E
| 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 |
probably benign
Transcript: ENSMUST00000124626
|
| SMART Domains |
Protein: ENSMUSP00000120202
Gene: ENSMUSG00000028644
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
68 |
151 |
9.26e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127574
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133956
|
| SMART Domains |
Protein: ENSMUSP00000120181
Gene: ENSMUSG00000028644
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
42 |
125 |
9.26e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137080
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138395
AA Change: V241E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123426
Gene: ENSMUSG00000028644
AA Change: V241E
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141227
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156746
|
| SMART Domains |
Protein: ENSMUSP00000118640
Gene: ENSMUSG00000028644
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG
|
78 |
107 |
6e-14 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (66/66) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot10 |
T |
C |
15: 20,666,262 (GRCm38) |
N131S |
probably benign |
Het |
| Agbl5 |
A |
G |
5: 30,891,833 (GRCm38) |
Y220C |
probably damaging |
Het |
| Ankdd1a |
C |
T |
9: 65,508,061 (GRCm38) |
A227T |
possibly damaging |
Het |
| Ap3b1 |
A |
T |
13: 94,528,295 (GRCm38) |
Q914L |
unknown |
Het |
| Arhgef25 |
T |
C |
10: 127,185,882 (GRCm38) |
D216G |
possibly damaging |
Het |
| Bcas2 |
T |
A |
3: 103,171,871 (GRCm38) |
|
probably benign |
Het |
| Bpifb5 |
A |
C |
2: 154,230,219 (GRCm38) |
H282P |
possibly damaging |
Het |
| Ccdc167 |
A |
G |
17: 29,705,582 (GRCm38) |
I15T |
probably damaging |
Het |
| Cd248 |
A |
G |
19: 5,069,981 (GRCm38) |
N619S |
probably benign |
Het |
| Chrna1 |
A |
G |
2: 73,570,484 (GRCm38) |
F234S |
possibly damaging |
Het |
| Clcc1 |
T |
G |
3: 108,673,366 (GRCm38) |
M332R |
probably damaging |
Het |
| Cmklr1 |
T |
A |
5: 113,614,938 (GRCm38) |
M1L |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 57,892,037 (GRCm38) |
M109V |
probably benign |
Het |
| Coq2 |
A |
G |
5: 100,661,863 (GRCm38) |
I18T |
possibly damaging |
Het |
| Crybg3 |
T |
C |
16: 59,530,338 (GRCm38) |
S880G |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,478,078 (GRCm38) |
C286R |
probably damaging |
Het |
| Defa24 |
T |
C |
8: 21,735,283 (GRCm38) |
V63A |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,086,217 (GRCm38) |
R2634H |
probably damaging |
Het |
| Dusp8 |
T |
A |
7: 142,083,019 (GRCm38) |
|
probably null |
Het |
| Elac1 |
T |
C |
18: 73,738,868 (GRCm38) |
D352G |
probably damaging |
Het |
| Fgf10 |
T |
A |
13: 118,715,511 (GRCm38) |
M43K |
probably benign |
Het |
| Gabrd |
A |
G |
4: 155,387,267 (GRCm38) |
V193A |
probably damaging |
Het |
| Gm13124 |
C |
T |
4: 144,558,654 (GRCm38) |
A138T |
probably damaging |
Het |
| Gm6588 |
A |
T |
5: 112,450,468 (GRCm38) |
I294F |
possibly damaging |
Het |
| Gm884 |
A |
T |
11: 103,618,930 (GRCm38) |
|
probably benign |
Het |
| Hectd4 |
T |
G |
5: 121,254,220 (GRCm38) |
C182W |
possibly damaging |
Het |
| Hook3 |
C |
T |
8: 26,034,940 (GRCm38) |
W26* |
probably null |
Het |
| Kif1a |
C |
A |
1: 93,054,941 (GRCm38) |
E714* |
probably null |
Het |
| Krt6b |
T |
C |
15: 101,678,951 (GRCm38) |
E236G |
probably damaging |
Het |
| Large2 |
A |
G |
2: 92,369,516 (GRCm38) |
L209P |
probably damaging |
Het |
| Lats1 |
A |
G |
10: 7,703,107 (GRCm38) |
N665S |
probably benign |
Het |
| Lrrtm3 |
T |
C |
10: 64,089,222 (GRCm38) |
I55M |
probably benign |
Het |
| Ltk |
A |
G |
2: 119,751,757 (GRCm38) |
S838P |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,420,306 (GRCm38) |
I348V |
probably benign |
Het |
| Mag |
T |
A |
7: 30,900,679 (GRCm38) |
S559C |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,612,294 (GRCm38) |
H1072R |
possibly damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,155,426 (GRCm38) |
Q833L |
probably damaging |
Het |
| Myh4 |
G |
A |
11: 67,255,333 (GRCm38) |
E1406K |
possibly damaging |
Het |
| Npc1 |
C |
T |
18: 12,197,245 (GRCm38) |
V950I |
probably benign |
Het |
| Npl |
A |
G |
1: 153,518,881 (GRCm38) |
|
probably null |
Het |
| Olfr1493-ps1 |
A |
G |
19: 13,726,389 (GRCm38) |
I43V |
probably benign |
Het |
| Olfr165 |
A |
T |
16: 19,407,417 (GRCm38) |
F200I |
possibly damaging |
Het |
| Olfr743 |
T |
A |
14: 50,534,254 (GRCm38) |
F281I |
probably benign |
Het |
| Olfr883 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 38,026,540 (GRCm38) |
|
probably null |
Het |
| Oxsm |
A |
T |
14: 16,242,220 (GRCm38) |
I183N |
probably damaging |
Het |
| Pde7a |
T |
C |
3: 19,243,163 (GRCm38) |
I108V |
probably benign |
Het |
| Pgghg |
A |
T |
7: 140,946,376 (GRCm38) |
T585S |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,589,525 (GRCm38) |
D3949N |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,327,411 (GRCm38) |
H1777Q |
possibly damaging |
Het |
| Rela |
G |
A |
19: 5,645,410 (GRCm38) |
|
probably null |
Het |
| Rilpl1 |
C |
A |
5: 124,514,539 (GRCm38) |
G41W |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,347,254 (GRCm38) |
K1212E |
probably benign |
Het |
| Sgca |
A |
C |
11: 94,972,567 (GRCm38) |
L28V |
probably damaging |
Het |
| Ssmem1 |
A |
G |
6: 30,519,759 (GRCm38) |
R148G |
probably damaging |
Het |
| St8sia5 |
A |
T |
18: 77,246,140 (GRCm38) |
N165Y |
probably damaging |
Het |
| Tbl2 |
A |
T |
5: 135,159,369 (GRCm38) |
H339L |
probably benign |
Het |
| Tcof1 |
G |
A |
18: 60,828,825 (GRCm38) |
P718L |
probably damaging |
Het |
| Trim72 |
A |
T |
7: 128,004,614 (GRCm38) |
E44V |
possibly damaging |
Het |
| Try10 |
T |
A |
6: 41,355,589 (GRCm38) |
S60T |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,648,276 (GRCm38) |
S1315T |
possibly damaging |
Het |
| Xrn2 |
A |
G |
2: 147,063,342 (GRCm38) |
I856V |
probably benign |
Het |
|
| Other mutations in Ermap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Ermap
|
APN |
4 |
119,183,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01402:Ermap
|
APN |
4 |
119,187,158 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02471:Ermap
|
APN |
4 |
119,179,963 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02696:Ermap
|
APN |
4 |
119,187,707 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02806:Ermap
|
APN |
4 |
119,188,916 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
Ermine
|
UTSW |
4 |
119,178,509 (GRCm38) |
nonsense |
probably null |
|
|
Mink
|
UTSW |
4 |
119,188,248 (GRCm38) |
intron |
probably benign |
|
|
Weasel
|
UTSW |
4 |
119,187,158 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0017:Ermap
|
UTSW |
4 |
119,179,948 (GRCm38) |
splice site |
probably benign |
|
|
R0645:Ermap
|
UTSW |
4 |
119,185,691 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0737:Ermap
|
UTSW |
4 |
119,178,510 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1204:Ermap
|
UTSW |
4 |
119,188,867 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1239:Ermap
|
UTSW |
4 |
119,188,925 (GRCm38) |
missense |
probably benign |
|
|
R1351:Ermap
|
UTSW |
4 |
119,181,361 (GRCm38) |
splice site |
probably null |
|
|
R1597:Ermap
|
UTSW |
4 |
119,183,955 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4128:Ermap
|
UTSW |
4 |
119,187,111 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4588:Ermap
|
UTSW |
4 |
119,188,248 (GRCm38) |
intron |
probably benign |
|
|
R4853:Ermap
|
UTSW |
4 |
119,187,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4906:Ermap
|
UTSW |
4 |
119,188,818 (GRCm38) |
intron |
probably benign |
|
|
R4946:Ermap
|
UTSW |
4 |
119,183,308 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5187:Ermap
|
UTSW |
4 |
119,185,818 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6275:Ermap
|
UTSW |
4 |
119,178,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6458:Ermap
|
UTSW |
4 |
119,178,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6896:Ermap
|
UTSW |
4 |
119,187,131 (GRCm38) |
nonsense |
probably null |
|
|
R6997:Ermap
|
UTSW |
4 |
119,178,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7445:Ermap
|
UTSW |
4 |
119,188,710 (GRCm38) |
missense |
unknown |
|
|
R8193:Ermap
|
UTSW |
4 |
119,183,943 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8711:Ermap
|
UTSW |
4 |
119,187,158 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9026:Ermap
|
UTSW |
4 |
119,178,043 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9210:Ermap
|
UTSW |
4 |
119,178,509 (GRCm38) |
nonsense |
probably null |
|
|
R9301:Ermap
|
UTSW |
4 |
119,185,547 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9335:Ermap
|
UTSW |
4 |
119,178,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Ermap
|
UTSW |
4 |
119,185,561 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTTGAGAGCCATACCCC -3'
(R):5'- ATCGAGCTGCTGTGTCAATC -3'
Sequencing Primer
(F):5'- GCCTGAATGTCTATGTACCATGCATG -3'
(R):5'- TCAATCAGTGGGATGGTTCC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation