Incidental Mutation 'R4588:Ermap'
| ID |
342604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ermap
|
| Ensembl Gene |
ENSMUSG00000028644 |
| Gene Name |
erythroblast membrane-associated protein |
| Synonyms |
|
| MMRRC Submission |
042007-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4588 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
119032654-119047208 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 119045445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030396]
[ENSMUST00000124626]
[ENSMUST00000133956]
[ENSMUST00000138395]
[ENSMUST00000141227]
[ENSMUST00000150864]
[ENSMUST00000156746]
|
| 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: 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 benign
Transcript: ENSMUST00000138395
|
| SMART Domains |
Protein: ENSMUSP00000123426
Gene: ENSMUSG00000028644
| 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 |
unknown
Transcript: ENSMUST00000150864
AA Change: D54Y
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (51/52) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,833,701 (GRCm39) |
|
probably null |
Het |
| Abcb4 |
A |
T |
5: 8,997,328 (GRCm39) |
I936F |
probably benign |
Het |
| Adnp2 |
G |
T |
18: 80,171,863 (GRCm39) |
L849I |
probably benign |
Het |
| Atf7ip |
T |
C |
6: 136,576,692 (GRCm39) |
S1032P |
probably benign |
Het |
| Atr |
A |
C |
9: 95,747,720 (GRCm39) |
D334A |
probably benign |
Het |
| Atrip |
A |
T |
9: 108,889,347 (GRCm39) |
D20E |
probably damaging |
Het |
| Atxn7 |
T |
A |
14: 14,096,268 (GRCm38) |
C43* |
probably null |
Het |
| Cfap65 |
C |
A |
1: 74,943,215 (GRCm39) |
Q1603H |
possibly damaging |
Het |
| Cpne5 |
T |
C |
17: 29,383,687 (GRCm39) |
I327V |
probably benign |
Het |
| Ctsa |
T |
C |
2: 164,676,070 (GRCm39) |
S41P |
possibly damaging |
Het |
| Cyp4x1 |
A |
T |
4: 114,965,994 (GRCm39) |
L444Q |
probably damaging |
Het |
| Dchs1 |
C |
A |
7: 105,405,248 (GRCm39) |
M2431I |
probably benign |
Het |
| Ddi1 |
T |
A |
9: 6,266,003 (GRCm39) |
H122L |
probably benign |
Het |
| Defa21 |
C |
T |
8: 21,515,664 (GRCm39) |
P21S |
probably damaging |
Het |
| Ect2 |
A |
G |
3: 27,201,149 (GRCm39) |
V77A |
probably damaging |
Het |
| Fancm |
G |
A |
12: 65,165,215 (GRCm39) |
|
probably null |
Het |
| Gcnt3 |
T |
A |
9: 69,941,512 (GRCm39) |
D352V |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,395,181 (GRCm39) |
M428T |
possibly damaging |
Het |
| Igtp |
T |
A |
11: 58,097,508 (GRCm39) |
N226K |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,142,694 (GRCm39) |
H1675L |
probably benign |
Het |
| Lipo4 |
G |
A |
19: 33,476,647 (GRCm39) |
P367L |
possibly damaging |
Het |
| Lzts3 |
T |
C |
2: 130,476,686 (GRCm39) |
*587W |
probably null |
Het |
| Mast3 |
T |
A |
8: 71,233,251 (GRCm39) |
K300* |
probably null |
Het |
| Mepce |
G |
A |
5: 137,783,534 (GRCm39) |
T264I |
possibly damaging |
Het |
| Mif4gd |
A |
T |
11: 115,500,372 (GRCm39) |
I62N |
probably damaging |
Het |
| Or14a260 |
C |
T |
7: 85,984,852 (GRCm39) |
V251I |
probably benign |
Het |
| Or7e175 |
T |
A |
9: 20,049,383 (GRCm39) |
*324K |
probably null |
Het |
| Palm3 |
A |
G |
8: 84,756,015 (GRCm39) |
K509R |
probably benign |
Het |
| Pde11a |
T |
C |
2: 75,859,647 (GRCm39) |
T821A |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,384,087 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,271,092 (GRCm39) |
T3154A |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,732,534 (GRCm39) |
Y438H |
probably damaging |
Het |
| Rdh8 |
T |
A |
9: 20,734,025 (GRCm39) |
D70E |
probably benign |
Het |
| Scn2a |
A |
T |
2: 65,544,111 (GRCm39) |
I831L |
possibly damaging |
Het |
| Selenoo |
A |
G |
15: 88,980,921 (GRCm39) |
H420R |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,446,677 (GRCm39) |
|
probably benign |
Het |
| Slc5a1 |
A |
G |
5: 33,302,632 (GRCm39) |
T208A |
probably benign |
Het |
| Sparc |
T |
C |
11: 55,296,062 (GRCm39) |
M121V |
probably benign |
Het |
| Sstr1 |
G |
T |
12: 58,260,417 (GRCm39) |
A347S |
probably benign |
Het |
| Stab1 |
C |
A |
14: 30,879,402 (GRCm39) |
V693F |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,972,681 (GRCm39) |
V307A |
probably benign |
Het |
| Trmt1 |
A |
G |
8: 85,417,382 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
T |
C |
16: 94,243,760 (GRCm39) |
S1255P |
probably benign |
Het |
| Ube2ql1 |
A |
C |
13: 69,887,276 (GRCm39) |
S62A |
unknown |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,809 (GRCm39) |
M804L |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,562,306 (GRCm39) |
E467G |
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 |
|
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'- TTGACAATCAACCAAGGCTGC -3'
(R):5'- CAGTTCAGGCAATAGCAAGTGG -3'
Sequencing Primer
(F):5'- GGCTGCAAAGTCCTCATCATG -3'
(R):5'- AGAGCTTCACTAGGGAACTCTCTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation