Incidental Mutation 'R0737:Ermap'
| ID |
70505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ermap
|
| Ensembl Gene |
ENSMUSG00000028644 |
| Gene Name |
erythroblast membrane-associated protein |
| Synonyms |
|
| MMRRC Submission |
038918-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0737 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
119032654-119047208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 119035707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 427
(C427F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030396]
[ENSMUST00000052715]
[ENSMUST00000106355]
[ENSMUST00000138395]
[ENSMUST00000154226]
[ENSMUST00000179290]
|
| 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 |
probably benign
Transcript: ENSMUST00000052715
|
| SMART Domains |
Protein: ENSMUSP00000053013
Gene: ENSMUSG00000045268
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
83 |
105 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
111 |
133 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
139 |
161 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
195 |
217 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
223 |
245 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
1.6e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106355
|
| SMART Domains |
Protein: ENSMUSP00000101962
Gene: ENSMUSG00000045268
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
83 |
105 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
111 |
133 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
139 |
161 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
195 |
217 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
223 |
245 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
1.6e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137080
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138395
AA Change: C427F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123426
Gene: ENSMUSG00000028644
AA Change: C427F
| 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: ENSMUST00000154226
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179290
|
| SMART Domains |
Protein: ENSMUSP00000136119
Gene: ENSMUSG00000045268
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
83 |
105 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
111 |
133 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
139 |
161 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
167 |
189 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
195 |
217 |
4.72e-2 |
SMART |
|
ZnF_C2H2
|
223 |
245 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
1.6e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.8%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
T |
A |
X: 69,437,813 (GRCm39) |
|
probably benign |
Het |
| Aff4 |
T |
A |
11: 53,301,780 (GRCm39) |
L1043* |
probably null |
Het |
| Ankrd11 |
G |
T |
8: 123,622,575 (GRCm39) |
R426S |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,367,866 (GRCm39) |
N2422I |
probably damaging |
Het |
| Bahcc1 |
C |
A |
11: 120,163,667 (GRCm39) |
P655Q |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,951,949 (GRCm39) |
I556V |
possibly damaging |
Het |
| Ccdc33 |
T |
C |
9: 57,989,331 (GRCm39) |
D114G |
probably damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,255,612 (GRCm39) |
H424R |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,438,299 (GRCm39) |
E864G |
possibly damaging |
Het |
| Cit |
T |
A |
5: 116,084,978 (GRCm39) |
S836R |
probably damaging |
Het |
| Clip4 |
C |
T |
17: 72,144,694 (GRCm39) |
Q95* |
probably null |
Het |
| Col17a1 |
C |
T |
19: 47,657,872 (GRCm39) |
G433S |
possibly damaging |
Het |
| Col6a3 |
A |
G |
1: 90,756,020 (GRCm39) |
F90L |
probably damaging |
Het |
| Cybc1 |
C |
T |
11: 121,118,068 (GRCm39) |
|
probably null |
Het |
| Degs1l |
G |
A |
1: 180,882,944 (GRCm39) |
M235I |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,998,724 (GRCm39) |
H1108R |
probably damaging |
Het |
| Elac1 |
A |
T |
18: 73,872,110 (GRCm39) |
M295K |
probably damaging |
Het |
| Epas1 |
G |
T |
17: 87,136,884 (GRCm39) |
G816C |
possibly damaging |
Het |
| Fbxo44 |
T |
C |
4: 148,243,266 (GRCm39) |
|
probably benign |
Het |
| Fmo4 |
T |
A |
1: 162,635,961 (GRCm39) |
K14* |
probably null |
Het |
| Gadl1 |
G |
A |
9: 115,903,055 (GRCm39) |
M461I |
probably damaging |
Het |
| Garnl3 |
T |
A |
2: 32,880,654 (GRCm39) |
I868F |
probably damaging |
Het |
| Gm7168 |
A |
G |
17: 14,169,245 (GRCm39) |
D204G |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 120,106,795 (GRCm39) |
F401S |
possibly damaging |
Het |
| Kcnmb1 |
A |
T |
11: 33,914,701 (GRCm39) |
M1L |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,620 (GRCm39) |
T292A |
probably benign |
Het |
| Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
| Lamb2 |
T |
A |
9: 108,360,993 (GRCm39) |
W572R |
probably benign |
Het |
| Letmd1 |
A |
G |
15: 100,367,702 (GRCm39) |
T87A |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,278,513 (GRCm39) |
Y3947H |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,822,044 (GRCm39) |
F685L |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,001,285 (GRCm39) |
F424I |
probably damaging |
Het |
| Nup88 |
A |
G |
11: 70,860,776 (GRCm39) |
M1T |
probably null |
Het |
| Or13p5 |
C |
T |
4: 118,592,421 (GRCm39) |
R232C |
probably benign |
Het |
| Or14c45 |
C |
T |
7: 86,176,195 (GRCm39) |
P77S |
probably damaging |
Het |
| Or4c29 |
T |
C |
2: 88,740,617 (GRCm39) |
N40S |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,762 (GRCm39) |
V636D |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,565,453 (GRCm39) |
A73E |
probably damaging |
Het |
| Pdlim7 |
A |
T |
13: 55,652,693 (GRCm39) |
|
probably null |
Het |
| Phldb1 |
G |
A |
9: 44,610,933 (GRCm39) |
P67S |
possibly damaging |
Het |
| Ppp2r2b |
T |
C |
18: 43,192,257 (GRCm39) |
T17A |
probably benign |
Het |
| Ppp4r3c2 |
A |
G |
X: 88,797,926 (GRCm39) |
H586R |
probably benign |
Het |
| Rab11fip4 |
T |
C |
11: 79,574,328 (GRCm39) |
V241A |
probably benign |
Het |
| Slc41a1 |
T |
C |
1: 131,768,690 (GRCm39) |
L216P |
probably damaging |
Het |
| Slco1a8 |
G |
T |
6: 141,949,154 (GRCm39) |
A74E |
possibly damaging |
Het |
| Smg6 |
T |
A |
11: 75,050,662 (GRCm39) |
D1352E |
probably damaging |
Het |
| Tbc1d9 |
A |
T |
8: 83,985,942 (GRCm39) |
I816F |
probably damaging |
Het |
| Tex264 |
T |
C |
9: 106,536,498 (GRCm39) |
T220A |
probably benign |
Het |
| Tmco6 |
G |
A |
18: 36,874,829 (GRCm39) |
V439I |
probably damaging |
Het |
| Tmem64 |
A |
G |
4: 15,266,717 (GRCm39) |
I256V |
probably damaging |
Het |
| Tnks1bp1 |
A |
G |
2: 84,882,880 (GRCm39) |
S236G |
possibly damaging |
Het |
| Tsc1 |
A |
G |
2: 28,560,942 (GRCm39) |
T267A |
possibly damaging |
Het |
| Txndc2 |
A |
G |
17: 65,946,548 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
G |
A |
17: 18,497,695 (GRCm39) |
Q26* |
probably null |
Het |
| Zan |
T |
C |
5: 137,387,511 (GRCm39) |
D4900G |
unknown |
Het |
| Zkscan3 |
T |
C |
13: 21,572,766 (GRCm39) |
T122A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCTCATCGTGAAGACAAGGTTC -3'
(R):5'- GCACATCCCAAACTCATCCTGTCTG -3'
Sequencing Primer
(F):5'- GACTTATCAGTCACGTTGTAGAAGG -3'
(R):5'- AAACTCATCCTGTCTGAGGATCG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation