Incidental Mutation 'IGL02806:Ermap'
| ID |
360422 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ermap
|
| Ensembl Gene |
ENSMUSG00000028644 |
| Gene Name |
erythroblast membrane-associated protein |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02806
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
119032654-119047208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119046113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 6
(K6E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030396]
[ENSMUST00000124626]
[ENSMUST00000133956]
[ENSMUST00000138395]
[ENSMUST00000141227]
[ENSMUST00000150864]
[ENSMUST00000156746]
|
| AlphaFold |
Q9JLN5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030396
AA Change: K6E
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030396
Gene: ENSMUSG00000028644
AA Change: K6E
| 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: K6E
|
| SMART Domains |
Protein: ENSMUSP00000120202
Gene: ENSMUSG00000028644
AA Change: K6E
| 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 |
possibly damaging
Transcript: ENSMUST00000138395
AA Change: K6E
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123426
Gene: ENSMUSG00000028644
AA Change: K6E
| 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: K6E
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000150864
AA Change: K6E
|
| 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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
A |
G |
12: 84,088,737 (GRCm39) |
D195G |
probably damaging |
Het |
| Acsm1 |
G |
A |
7: 119,235,861 (GRCm39) |
D194N |
probably benign |
Het |
| Akr1b1 |
T |
C |
6: 34,281,254 (GRCm39) |
Y310C |
probably damaging |
Het |
| Aldh6a1 |
T |
C |
12: 84,486,414 (GRCm39) |
D168G |
probably damaging |
Het |
| Ankrd29 |
A |
C |
18: 12,408,795 (GRCm39) |
S166A |
probably benign |
Het |
| Ap1m2 |
T |
G |
9: 21,216,979 (GRCm39) |
D119A |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,681,297 (GRCm39) |
K776R |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,000,643 (GRCm39) |
D1274G |
possibly damaging |
Het |
| Cacna2d3 |
A |
C |
14: 29,073,907 (GRCm39) |
|
probably null |
Het |
| Ccdc51 |
T |
C |
9: 108,921,316 (GRCm39) |
M401T |
probably benign |
Het |
| Cchcr1 |
A |
G |
17: 35,836,153 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,797,543 (GRCm39) |
S1336P |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,409,156 (GRCm39) |
D397E |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,115,147 (GRCm39) |
H1110R |
probably damaging |
Het |
| Ephb3 |
C |
A |
16: 21,041,031 (GRCm39) |
D696E |
probably benign |
Het |
| Gm3095 |
A |
G |
14: 15,170,388 (GRCm39) |
D79G |
possibly damaging |
Het |
| Hnrnpab |
A |
G |
11: 51,496,305 (GRCm39) |
S126P |
probably benign |
Het |
| Hyou1 |
C |
A |
9: 44,300,180 (GRCm39) |
S823* |
probably null |
Het |
| Klhl31 |
T |
A |
9: 77,563,056 (GRCm39) |
V607E |
probably damaging |
Het |
| Klrc3 |
A |
T |
6: 129,616,065 (GRCm39) |
C209S |
possibly damaging |
Het |
| Lhx4 |
G |
A |
1: 155,577,975 (GRCm39) |
P389L |
probably benign |
Het |
| Lmntd2 |
T |
C |
7: 140,791,952 (GRCm39) |
T264A |
probably benign |
Het |
| Mkx |
T |
C |
18: 6,937,025 (GRCm39) |
D302G |
probably damaging |
Het |
| Ms4a4d |
T |
C |
19: 11,533,610 (GRCm39) |
S164P |
possibly damaging |
Het |
| Myo1e |
A |
G |
9: 70,269,552 (GRCm39) |
E651G |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,750,151 (GRCm39) |
|
probably null |
Het |
| Ncoa3 |
A |
G |
2: 165,894,352 (GRCm39) |
I298V |
probably benign |
Het |
| Nek1 |
G |
A |
8: 61,497,120 (GRCm39) |
M389I |
probably benign |
Het |
| Nid1 |
T |
A |
13: 13,642,897 (GRCm39) |
D278E |
probably benign |
Het |
| Nkx2-9 |
C |
T |
12: 56,658,705 (GRCm39) |
V170M |
probably damaging |
Het |
| Or51ag1 |
T |
A |
7: 103,155,210 (GRCm39) |
K314N |
probably benign |
Het |
| Oxsr1 |
T |
C |
9: 119,070,260 (GRCm39) |
D511G |
possibly damaging |
Het |
| Pramel14 |
T |
A |
4: 143,719,501 (GRCm39) |
|
probably null |
Het |
| Rbm44 |
T |
C |
1: 91,080,799 (GRCm39) |
L329S |
possibly damaging |
Het |
| Setd7 |
A |
T |
3: 51,457,688 (GRCm39) |
N46K |
probably damaging |
Het |
| Snx10 |
T |
A |
6: 51,565,329 (GRCm39) |
F149I |
probably damaging |
Het |
| Sult2a3 |
T |
A |
7: 13,856,857 (GRCm39) |
E21V |
probably damaging |
Het |
| Tas2r135 |
T |
C |
6: 42,383,382 (GRCm39) |
F307S |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,836,123 (GRCm39) |
|
probably benign |
Het |
| Tnfsf18 |
T |
G |
1: 161,331,348 (GRCm39) |
M166R |
possibly damaging |
Het |
| Toe1 |
C |
T |
4: 116,663,527 (GRCm39) |
V88M |
possibly damaging |
Het |
| Ttk |
T |
A |
9: 83,744,540 (GRCm39) |
C577* |
probably null |
Het |
| Ush2a |
T |
A |
1: 188,542,554 (GRCm39) |
Y3373* |
probably null |
Het |
| Vwa8 |
A |
G |
14: 79,394,528 (GRCm39) |
D1543G |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,455,468 (GRCm39) |
H1154L |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation