Incidental Mutation 'IGL02696:Ermap'
| ID |
303949 |
| 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 # |
IGL02696
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
119032654-119047208 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119044904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 49
(R49K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030396]
[ENSMUST00000124626]
[ENSMUST00000133956]
[ENSMUST00000138395]
[ENSMUST00000141227]
[ENSMUST00000156746]
[ENSMUST00000150864]
|
| AlphaFold |
Q9JLN5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030396
AA Change: R29K
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000030396
Gene: ENSMUSG00000028644
AA Change: R29K
| 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 |
possibly damaging
Transcript: ENSMUST00000124626
AA Change: R29K
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120202
Gene: ENSMUSG00000028644
AA Change: R29K
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
68 |
151 |
9.26e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127574
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133956
AA Change: R3K
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120181
Gene: ENSMUSG00000028644
AA Change: R3K
| 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: R29K
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000123426
Gene: ENSMUSG00000028644
AA Change: R29K
| 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 |
possibly damaging
Transcript: ENSMUST00000156746
AA Change: R49K
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118640
Gene: ENSMUSG00000028644
AA Change: R49K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG
|
78 |
107 |
6e-14 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150864
|
| 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 |
|---|
| Actr8 |
A |
G |
14: 29,704,628 (GRCm39) |
T43A |
probably benign |
Het |
| Adgrd1 |
T |
C |
5: 129,217,918 (GRCm39) |
|
probably benign |
Het |
| Asxl1 |
T |
A |
2: 153,242,115 (GRCm39) |
Y888* |
probably null |
Het |
| Atp8b5 |
T |
C |
4: 43,369,634 (GRCm39) |
V924A |
possibly damaging |
Het |
| AU040320 |
T |
C |
4: 126,736,380 (GRCm39) |
L821P |
probably damaging |
Het |
| Capn11 |
T |
C |
17: 45,943,635 (GRCm39) |
N596S |
probably damaging |
Het |
| Cnot1 |
C |
A |
8: 96,471,645 (GRCm39) |
V1219F |
probably benign |
Het |
| Cope |
T |
C |
8: 70,763,143 (GRCm39) |
|
probably null |
Het |
| Crim1 |
A |
G |
17: 78,587,402 (GRCm39) |
E169G |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,533,065 (GRCm39) |
F2395I |
probably benign |
Het |
| Ctso |
A |
C |
3: 81,858,691 (GRCm39) |
D220A |
possibly damaging |
Het |
| Cttnbp2 |
G |
A |
6: 18,434,128 (GRCm39) |
P577S |
probably benign |
Het |
| D930048N14Rik |
T |
A |
11: 51,544,821 (GRCm39) |
|
probably benign |
Het |
| Dck |
T |
A |
5: 88,920,666 (GRCm39) |
S129T |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,041,326 (GRCm39) |
V1301A |
possibly damaging |
Het |
| Dusp16 |
G |
A |
6: 134,695,398 (GRCm39) |
R478C |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,446,697 (GRCm39) |
K969R |
probably damaging |
Het |
| Gjb2 |
A |
T |
14: 57,337,769 (GRCm39) |
F146L |
probably damaging |
Het |
| Hdc |
A |
T |
2: 126,436,220 (GRCm39) |
D550E |
probably damaging |
Het |
| Hs6st3 |
A |
T |
14: 120,106,731 (GRCm39) |
I380F |
probably damaging |
Het |
| Htr1d |
T |
C |
4: 136,170,722 (GRCm39) |
V317A |
probably benign |
Het |
| Kalrn |
A |
T |
16: 34,040,484 (GRCm39) |
M963K |
probably damaging |
Het |
| Kl |
T |
A |
5: 150,904,450 (GRCm39) |
S401T |
probably benign |
Het |
| Lair1 |
A |
G |
7: 4,013,848 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
C |
T |
19: 3,652,253 (GRCm39) |
V1206I |
probably benign |
Het |
| Matn4 |
A |
G |
2: 164,238,758 (GRCm39) |
F343S |
probably benign |
Het |
| Mrgpra4 |
G |
T |
7: 47,631,251 (GRCm39) |
R117S |
possibly damaging |
Het |
| Myh14 |
T |
C |
7: 44,314,530 (GRCm39) |
Y131C |
probably damaging |
Het |
| Nap1l4 |
A |
T |
7: 143,077,898 (GRCm39) |
N345K |
possibly damaging |
Het |
| Oas1c |
T |
C |
5: 120,943,528 (GRCm39) |
R204G |
probably benign |
Het |
| Or52e4 |
A |
G |
7: 104,705,569 (GRCm39) |
T39A |
probably benign |
Het |
| Or8k25 |
T |
A |
2: 86,243,959 (GRCm39) |
T146S |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,854,663 (GRCm39) |
D58E |
probably damaging |
Het |
| Pin1 |
G |
A |
9: 20,574,531 (GRCm39) |
G150E |
probably benign |
Het |
| R3hdm2 |
T |
C |
10: 127,300,888 (GRCm39) |
|
probably null |
Het |
| Rai1 |
C |
A |
11: 60,084,782 (GRCm39) |
H1843Q |
probably benign |
Het |
| Siae |
G |
T |
9: 37,542,680 (GRCm39) |
A194S |
probably damaging |
Het |
| Slc6a12 |
G |
T |
6: 121,340,211 (GRCm39) |
V485L |
probably benign |
Het |
| Stil |
T |
G |
4: 114,898,692 (GRCm39) |
S1107R |
probably damaging |
Het |
| Syt16 |
T |
C |
12: 74,176,185 (GRCm39) |
V18A |
possibly damaging |
Het |
| Trpm8 |
A |
G |
1: 88,275,773 (GRCm39) |
D457G |
probably damaging |
Het |
| Tshr |
A |
T |
12: 91,460,103 (GRCm39) |
T66S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,537,639 (GRCm39) |
Q34763L |
probably benign |
Het |
| Ubr2 |
T |
A |
17: 47,274,691 (GRCm39) |
M830L |
probably benign |
Het |
| Ulk1 |
A |
G |
5: 110,940,918 (GRCm39) |
F337S |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation