Incidental Mutation 'R6458:Ermap'
ID |
517422 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ermap
|
Ensembl Gene |
ENSMUSG00000028644 |
Gene Name |
erythroblast membrane-associated protein |
Synonyms |
|
MMRRC Submission |
044593-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6458 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
119032654-119047208 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 119035337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 550
(N550K)
|
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: N550K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123426 Gene: ENSMUSG00000028644 AA Change: N550K
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 |
|
Meta Mutation Damage Score |
0.0789 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.3%
|
Validation Efficiency |
100% (56/56) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot8 |
A |
G |
2: 164,646,655 (GRCm39) |
V28A |
possibly damaging |
Het |
Ak1 |
T |
A |
2: 32,520,385 (GRCm39) |
M61K |
probably damaging |
Het |
Akap12 |
T |
C |
10: 4,305,148 (GRCm39) |
S653P |
probably damaging |
Het |
Anapc4 |
G |
A |
5: 53,021,895 (GRCm39) |
R659H |
possibly damaging |
Het |
Arel1 |
T |
C |
12: 84,987,159 (GRCm39) |
N86D |
possibly damaging |
Het |
Bco1 |
A |
G |
8: 117,854,245 (GRCm39) |
D390G |
possibly damaging |
Het |
Ccr1l1 |
A |
T |
9: 123,778,203 (GRCm39) |
D81E |
probably damaging |
Het |
Chd1 |
A |
T |
17: 15,950,864 (GRCm39) |
N185I |
probably benign |
Het |
Clca4b |
T |
G |
3: 144,617,088 (GRCm39) |
N854T |
possibly damaging |
Het |
Col4a4 |
T |
C |
1: 82,433,546 (GRCm39) |
T1466A |
unknown |
Het |
Cxcr4 |
T |
C |
1: 128,516,831 (GRCm39) |
I277V |
probably benign |
Het |
Dgkq |
A |
G |
5: 108,802,242 (GRCm39) |
V441A |
possibly damaging |
Het |
Dnah10 |
G |
T |
5: 124,886,333 (GRCm39) |
L3030F |
probably damaging |
Het |
Epg5 |
T |
A |
18: 77,991,469 (GRCm39) |
D55E |
probably benign |
Het |
Fnbp1l |
A |
T |
3: 122,350,089 (GRCm39) |
I374N |
probably damaging |
Het |
Gadl1 |
T |
A |
9: 115,870,070 (GRCm39) |
*479K |
probably null |
Het |
Gm5591 |
T |
A |
7: 38,218,459 (GRCm39) |
T805S |
probably damaging |
Het |
H2-T3 |
A |
T |
17: 36,497,911 (GRCm39) |
M334K |
possibly damaging |
Het |
Ihh |
C |
T |
1: 74,985,601 (GRCm39) |
A295T |
probably damaging |
Het |
Il18r1 |
T |
A |
1: 40,530,342 (GRCm39) |
Y356* |
probably null |
Het |
Lingo3 |
A |
G |
10: 80,671,150 (GRCm39) |
V260A |
probably damaging |
Het |
Lrp2 |
T |
G |
2: 69,335,500 (GRCm39) |
M1408L |
probably benign |
Het |
Mical1 |
C |
A |
10: 41,360,731 (GRCm39) |
H657N |
probably benign |
Het |
Mpp2 |
T |
A |
11: 101,971,595 (GRCm39) |
M12L |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,553,017 (GRCm39) |
D4425E |
probably benign |
Het |
Muc4 |
T |
A |
16: 32,579,694 (GRCm39) |
|
probably null |
Het |
Myt1l |
T |
A |
12: 29,945,298 (GRCm39) |
F1021Y |
unknown |
Het |
Nbas |
T |
C |
12: 13,338,750 (GRCm39) |
S197P |
probably damaging |
Het |
Nckap1 |
T |
C |
2: 80,342,893 (GRCm39) |
|
probably null |
Het |
Nek1 |
T |
G |
8: 61,553,046 (GRCm39) |
V903G |
probably benign |
Het |
Or14c43 |
A |
G |
7: 86,114,888 (GRCm39) |
I90V |
probably damaging |
Het |
Or1e18-ps1 |
T |
G |
11: 73,279,517 (GRCm39) |
S112R |
probably damaging |
Het |
Or4p22 |
T |
A |
2: 88,317,562 (GRCm39) |
I162N |
possibly damaging |
Het |
Or8b40 |
T |
C |
9: 38,027,350 (GRCm39) |
V91A |
possibly damaging |
Het |
Ppm1j |
T |
C |
3: 104,688,560 (GRCm39) |
V53A |
probably benign |
Het |
Ralgapb |
T |
A |
2: 158,286,540 (GRCm39) |
D328E |
probably damaging |
Het |
Rgma |
T |
A |
7: 73,059,442 (GRCm39) |
V88E |
probably damaging |
Het |
Slc30a6 |
A |
G |
17: 74,730,108 (GRCm39) |
T333A |
probably damaging |
Het |
Spr |
T |
C |
6: 85,114,039 (GRCm39) |
|
probably null |
Het |
Srek1 |
A |
T |
13: 103,880,076 (GRCm39) |
V494E |
probably benign |
Het |
Ston1 |
A |
T |
17: 88,942,731 (GRCm39) |
T46S |
probably benign |
Het |
Stox2 |
T |
C |
8: 47,645,079 (GRCm39) |
K858E |
possibly damaging |
Het |
Thoc1 |
G |
A |
18: 9,993,333 (GRCm39) |
R564Q |
probably benign |
Het |
Thoc2l |
A |
T |
5: 104,670,169 (GRCm39) |
I1564L |
probably benign |
Het |
Tmc5 |
T |
A |
7: 118,244,539 (GRCm39) |
N472K |
probably damaging |
Het |
Ttc41 |
A |
G |
10: 86,594,134 (GRCm39) |
T856A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,608,854 (GRCm39) |
W17721R |
probably damaging |
Het |
Vmn1r69 |
A |
G |
7: 10,314,365 (GRCm39) |
I43T |
probably benign |
Het |
Vmn2r56 |
T |
A |
7: 12,427,984 (GRCm39) |
I761F |
probably damaging |
Het |
Zfp109 |
T |
C |
7: 23,927,870 (GRCm39) |
D521G |
probably benign |
Het |
Zfp516 |
A |
G |
18: 83,005,475 (GRCm39) |
H793R |
probably benign |
Het |
Zfp800 |
A |
T |
6: 28,244,215 (GRCm39) |
I250N |
probably damaging |
Het |
Zpbp |
T |
A |
11: 11,358,538 (GRCm39) |
Y243F |
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 |
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 |
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'- CAAGGCAGAGTTCAGAACCG -3'
(R):5'- ATGAAGCCGGCATCATCTCC -3'
Sequencing Primer
(F):5'- AGAGTTCAGAACCGAGCCCTG -3'
(R):5'- TTCTACAACGTGACTGATAAGTCCC -3'
|
Posted On |
2018-05-21 |