Incidental Mutation 'IGL01415:Ighe'
| ID |
80193 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ighe
|
| Ensembl Gene |
ENSMUSG00000087642 |
| Gene Name |
Immunoglobulin heavy constant epsilon |
| Synonyms |
Gm900, LOC380792 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL01415
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
113232883-113236868 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 113235011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 383
(L383R)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000137336
AA Change: L383R
|
| SMART Domains |
Protein: ENSMUSP00000118012
Gene: ENSMUSG00000087642
AA Change: L383R
| Domain | Start | End | E-Value | Type |
|---|
|
IGc1
|
18 |
85 |
2.5e-6 |
SMART |
|
IG_like
|
116 |
190 |
2.3e-5 |
SMART |
|
IG_like
|
221 |
295 |
3e-4 |
SMART |
|
low complexity region
|
310 |
323 |
N/A |
INTRINSIC |
|
IGc1
|
325 |
402 |
7.4e-35 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000223335
AA Change: L383R
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd44 |
T |
C |
1: 54,792,087 (GRCm39) |
H316R |
probably damaging |
Het |
| Arfgef2 |
G |
A |
2: 166,709,275 (GRCm39) |
M1117I |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,360,881 (GRCm39) |
D213G |
probably damaging |
Het |
| Cfap69 |
G |
A |
5: 5,696,979 (GRCm39) |
P106S |
probably damaging |
Het |
| Chkb |
A |
T |
15: 89,312,987 (GRCm39) |
L30H |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,079,962 (GRCm39) |
K758E |
possibly damaging |
Het |
| Clstn3 |
G |
A |
6: 124,415,781 (GRCm39) |
Q634* |
probably null |
Het |
| Efcab15 |
T |
C |
11: 103,091,754 (GRCm39) |
Q42R |
probably damaging |
Het |
| Esrra |
C |
A |
19: 6,890,100 (GRCm39) |
W98C |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,892,058 (GRCm39) |
|
probably benign |
Het |
| Gcnt3 |
G |
T |
9: 69,941,739 (GRCm39) |
H276Q |
probably benign |
Het |
| Gm16506 |
A |
G |
14: 43,961,630 (GRCm39) |
Y206H |
probably benign |
Het |
| Gvin3 |
C |
T |
7: 106,202,258 (GRCm39) |
|
noncoding transcript |
Het |
| Hkdc1 |
T |
A |
10: 62,229,638 (GRCm39) |
N680Y |
probably damaging |
Het |
| Lgals9 |
T |
G |
11: 78,863,977 (GRCm39) |
D56A |
probably damaging |
Het |
| Marveld3 |
G |
A |
8: 110,688,705 (GRCm39) |
T12I |
possibly damaging |
Het |
| Nab2 |
A |
T |
10: 127,500,972 (GRCm39) |
L40Q |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,439,798 (GRCm39) |
E323G |
probably benign |
Het |
| Nubpl |
T |
A |
12: 52,317,853 (GRCm39) |
V182E |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,340,706 (GRCm39) |
V145A |
probably benign |
Het |
| Or4c11 |
T |
A |
2: 88,695,864 (GRCm39) |
M305K |
probably benign |
Het |
| Or6b3 |
A |
G |
1: 92,438,974 (GRCm39) |
Y259H |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,714,652 (GRCm39) |
I190T |
probably damaging |
Het |
| Plcl1 |
G |
A |
1: 55,735,555 (GRCm39) |
V299M |
possibly damaging |
Het |
| Ppp4r1 |
G |
A |
17: 66,120,522 (GRCm39) |
E219K |
probably damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,005,492 (GRCm39) |
A280T |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,061,663 (GRCm39) |
I370V |
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,359,695 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
T |
G |
3: 146,615,354 (GRCm39) |
S273A |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 103,074,944 (GRCm39) |
N1401D |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
| Zfand4 |
G |
A |
6: 116,291,830 (GRCm39) |
R588Q |
probably benign |
Het |
|
| Other mutations in Ighe |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Ighe
|
APN |
12 |
113,235,135 (GRCm39) |
missense |
unknown |
|
|
IGL01315:Ighe
|
APN |
12 |
113,234,972 (GRCm39) |
missense |
unknown |
|
|
Allegra
|
UTSW |
12 |
113,234,994 (GRCm39) |
nonsense |
probably null |
|
|
R0610:Ighe
|
UTSW |
12 |
113,235,363 (GRCm39) |
missense |
unknown |
|
|
R1540:Ighe
|
UTSW |
12 |
113,235,066 (GRCm39) |
missense |
unknown |
|
|
R1838:Ighe
|
UTSW |
12 |
113,235,470 (GRCm39) |
missense |
unknown |
|
|
R2010:Ighe
|
UTSW |
12 |
113,235,108 (GRCm39) |
missense |
unknown |
|
|
R3498:Ighe
|
UTSW |
12 |
113,234,994 (GRCm39) |
nonsense |
probably null |
|
|
R5230:Ighe
|
UTSW |
12 |
113,235,006 (GRCm39) |
missense |
unknown |
|
|
R5288:Ighe
|
UTSW |
12 |
113,235,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6713:Ighe
|
UTSW |
12 |
113,232,908 (GRCm39) |
unclassified |
probably benign |
|
|
R7010:Ighe
|
UTSW |
12 |
113,236,761 (GRCm39) |
missense |
|
|
|
R7146:Ighe
|
UTSW |
12 |
113,235,975 (GRCm39) |
missense |
|
|
|
R7324:Ighe
|
UTSW |
12 |
113,235,954 (GRCm39) |
missense |
|
|
|
R7443:Ighe
|
UTSW |
12 |
113,235,785 (GRCm39) |
nonsense |
probably null |
|
|
R7473:Ighe
|
UTSW |
12 |
113,234,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7493:Ighe
|
UTSW |
12 |
113,235,023 (GRCm39) |
missense |
|
|
|
R7862:Ighe
|
UTSW |
12 |
113,235,428 (GRCm39) |
missense |
|
|
|
R7873:Ighe
|
UTSW |
12 |
113,234,942 (GRCm39) |
missense |
|
|
|
R7973:Ighe
|
UTSW |
12 |
113,236,677 (GRCm39) |
missense |
|
|
|
R8038:Ighe
|
UTSW |
12 |
113,233,053 (GRCm39) |
missense |
|
|
|
R8355:Ighe
|
UTSW |
12 |
113,235,167 (GRCm39) |
nonsense |
probably null |
|
|
R8483:Ighe
|
UTSW |
12 |
113,235,808 (GRCm39) |
missense |
|
|
|
R8508:Ighe
|
UTSW |
12 |
113,235,413 (GRCm39) |
nonsense |
probably null |
|
|
R8844:Ighe
|
UTSW |
12 |
113,235,006 (GRCm39) |
missense |
|
|
|
R9401:Ighe
|
UTSW |
12 |
113,233,107 (GRCm39) |
missense |
|
|
|
R9635:Ighe
|
UTSW |
12 |
113,235,899 (GRCm39) |
missense |
|
|
|
R9786:Ighe
|
UTSW |
12 |
113,236,851 (GRCm39) |
missense |
|
|
|
| Posted On |
2013-11-05 |
Incidental Mutation