Incidental Mutation 'R1239:Ermap'
| ID |
151874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ermap
|
| Ensembl Gene |
ENSMUSG00000028644 |
| Gene Name |
erythroblast membrane-associated protein |
| Synonyms |
|
| MMRRC Submission |
039306-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1239 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
119032654-119047208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119046122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 3
(K3E)
|
| 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 benign
Transcript: ENSMUST00000030396
AA Change: K3E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030396
Gene: ENSMUSG00000028644
AA Change: K3E
| 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 |
unknown
Transcript: ENSMUST00000124626
AA Change: K3E
|
| SMART Domains |
Protein: ENSMUSP00000120202
Gene: ENSMUSG00000028644
AA Change: K3E
| 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 benign
Transcript: ENSMUST00000138395
AA Change: K3E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123426
Gene: ENSMUSG00000028644
AA Change: K3E
| 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 |
unknown
Transcript: ENSMUST00000141227
AA Change: K3E
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150864
AA Change: K3E
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
98% (44/45) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
C |
T |
19: 4,915,483 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
G |
T |
15: 64,587,911 (GRCm39) |
R959S |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,586,171 (GRCm39) |
N455D |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,436,535 (GRCm39) |
T589A |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,863,347 (GRCm39) |
N1228K |
probably damaging |
Het |
| Ces4a |
T |
C |
8: 105,876,130 (GRCm39) |
L557P |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Clba1 |
A |
G |
12: 112,773,123 (GRCm39) |
R39G |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,237,152 (GRCm39) |
|
probably benign |
Het |
| Cplx2 |
G |
T |
13: 54,527,415 (GRCm39) |
A100S |
probably damaging |
Het |
| Cpsf6 |
G |
A |
10: 117,197,248 (GRCm39) |
|
probably benign |
Het |
| Cyp1a2 |
A |
G |
9: 57,589,050 (GRCm39) |
F255L |
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,492,313 (GRCm39) |
Y783H |
probably damaging |
Het |
| E230025N22Rik |
T |
C |
18: 36,818,528 (GRCm39) |
I434V |
probably damaging |
Het |
| Gatd3a |
A |
G |
10: 78,004,761 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
G |
A |
3: 107,891,344 (GRCm39) |
L125F |
possibly damaging |
Het |
| Hk2 |
C |
T |
6: 82,726,289 (GRCm39) |
G58R |
probably damaging |
Het |
| Jpt2 |
T |
C |
17: 25,179,585 (GRCm39) |
M1V |
probably null |
Het |
| Matcap2 |
GTTCTTC |
GTTC |
9: 22,335,995 (GRCm39) |
|
probably benign |
Het |
| Mgmt |
T |
C |
7: 136,729,786 (GRCm39) |
F200S |
probably benign |
Het |
| Mug2 |
T |
G |
6: 122,058,637 (GRCm39) |
|
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or5an11 |
G |
T |
19: 12,246,340 (GRCm39) |
V249F |
probably damaging |
Het |
| Or5b109 |
G |
A |
19: 13,212,040 (GRCm39) |
C142Y |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,968,279 (GRCm39) |
V886A |
probably damaging |
Het |
| Plcg2 |
T |
A |
8: 118,282,783 (GRCm39) |
V88D |
probably benign |
Het |
| Podxl2 |
C |
T |
6: 88,826,965 (GRCm39) |
V50I |
probably benign |
Het |
| Rap1gap |
G |
T |
4: 137,445,307 (GRCm39) |
M329I |
probably damaging |
Het |
| Rbm5 |
A |
G |
9: 107,630,165 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,821,430 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,897,929 (GRCm39) |
|
probably null |
Het |
| Skida1 |
A |
C |
2: 18,052,128 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,243,781 (GRCm39) |
F2024L |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Vmn1r16 |
C |
T |
6: 57,300,618 (GRCm39) |
M1I |
probably null |
Het |
| Zbtb39 |
G |
T |
10: 127,578,938 (GRCm39) |
G504V |
probably damaging |
Het |
| Zfp1004 |
T |
C |
2: 150,033,891 (GRCm39) |
Y71H |
possibly damaging |
Het |
| Zfp106 |
A |
T |
2: 120,364,075 (GRCm39) |
N777K |
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 |
|
IGL02471:Ermap
|
APN |
4 |
119,037,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCAGTCCAAGAGGAGATCACCT -3'
(R):5'- GGCTGTGGGAAAGCGAGAACTTTTA -3'
Sequencing Primer
(F):5'- cagttccagcacccacatag -3'
(R):5'- GCGAGAACTTTTATGttgactgattg -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation