Incidental Mutation 'IGL03121:Nrg1'
ID |
409992 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nrg1
|
Ensembl Gene |
ENSMUSG00000062991 |
Gene Name |
neuregulin 1 |
Synonyms |
NDF, Hgl, GGF, HRG, HGL, SMDF, heregulin, D230005F13Rik, HRGalpha, 6030402G23Rik, ARIA, GGFII |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03121
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 32314608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146617
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208488]
[ENSMUST00000208497]
[ENSMUST00000208598]
[ENSMUST00000208617]
[ENSMUST00000209107]
[ENSMUST00000209022]
[ENSMUST00000208819]
[ENSMUST00000208931]
|
AlphaFold |
A0A140LHZ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073884
|
SMART Domains |
Protein: ENSMUSP00000073546 Gene: ENSMUSG00000062991
Domain | Start | End | E-Value | Type |
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
low complexity region
|
180 |
198 |
N/A |
INTRINSIC |
low complexity region
|
223 |
232 |
N/A |
INTRINSIC |
EGF
|
236 |
277 |
7.88e-4 |
SMART |
Pfam:Neuregulin
|
295 |
688 |
5.3e-193 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207417
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207678
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208205
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208335
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208488
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208497
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209107
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208355
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209022
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208931
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit heart defects, impaired development of Schwann cell precursors, cranial ganglia, and radial glia cells, and die at embryonic day 10.5-11.5. Heterozygotes are hyperactive with reduced NMDA receptors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B09Rik |
A |
G |
9: 14,672,946 (GRCm39) |
S4P |
possibly damaging |
Het |
A2m |
A |
G |
6: 121,618,265 (GRCm39) |
N186S |
probably benign |
Het |
Afg2a |
T |
C |
3: 37,518,800 (GRCm39) |
I778T |
probably damaging |
Het |
Ago1 |
T |
C |
4: 126,353,796 (GRCm39) |
K261R |
probably benign |
Het |
Alas1 |
G |
A |
9: 106,124,113 (GRCm39) |
P15L |
probably damaging |
Het |
Aox1 |
G |
A |
1: 58,398,113 (GRCm39) |
V1285M |
probably damaging |
Het |
Brd8 |
A |
T |
18: 34,739,740 (GRCm39) |
F678I |
probably damaging |
Het |
Col27a1 |
T |
A |
4: 63,143,446 (GRCm39) |
M378K |
probably benign |
Het |
Dpy19l4 |
C |
A |
4: 11,303,334 (GRCm39) |
V196F |
probably damaging |
Het |
Dst |
G |
T |
1: 34,256,884 (GRCm39) |
|
probably benign |
Het |
Hsd17b1 |
T |
A |
11: 100,970,870 (GRCm39) |
Y275* |
probably null |
Het |
Kdm3b |
A |
G |
18: 34,928,762 (GRCm39) |
E171G |
probably damaging |
Het |
Klc1 |
T |
C |
12: 111,748,076 (GRCm39) |
|
probably benign |
Het |
Mlkl |
G |
A |
8: 112,041,612 (GRCm39) |
R443W |
probably damaging |
Het |
Mov10 |
A |
T |
3: 104,708,318 (GRCm39) |
V477E |
probably benign |
Het |
Nacad |
A |
G |
11: 6,550,933 (GRCm39) |
S753P |
probably damaging |
Het |
Ncapd2 |
A |
C |
6: 125,150,575 (GRCm39) |
M842R |
probably benign |
Het |
Nkd2 |
C |
A |
13: 73,969,498 (GRCm39) |
A311S |
probably benign |
Het |
Or4f6 |
A |
G |
2: 111,838,953 (GRCm39) |
Y193H |
probably benign |
Het |
Or6c68 |
A |
G |
10: 129,158,037 (GRCm39) |
I182V |
probably benign |
Het |
Pde6h |
A |
G |
6: 136,936,280 (GRCm39) |
S8G |
probably null |
Het |
Pik3c2b |
A |
G |
1: 133,007,483 (GRCm39) |
K616E |
probably benign |
Het |
Pnpt1 |
A |
T |
11: 29,082,845 (GRCm39) |
R54S |
probably benign |
Het |
Pramel38 |
T |
C |
5: 94,368,912 (GRCm39) |
V469A |
possibly damaging |
Het |
Rttn |
A |
G |
18: 88,993,875 (GRCm39) |
D184G |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,574,284 (GRCm39) |
I756F |
unknown |
Het |
Slc24a2 |
T |
C |
4: 87,145,143 (GRCm39) |
T304A |
probably benign |
Het |
Stk3 |
A |
T |
15: 35,099,572 (GRCm39) |
|
probably benign |
Het |
Trim69 |
A |
G |
2: 121,998,128 (GRCm39) |
I33M |
probably benign |
Het |
Ube2q2 |
A |
T |
9: 55,102,323 (GRCm39) |
|
probably benign |
Het |
Vmn1r67 |
T |
A |
7: 10,181,394 (GRCm39) |
N158K |
probably benign |
Het |
Wipi2 |
G |
A |
5: 142,648,857 (GRCm39) |
E252K |
probably benign |
Het |
|
Other mutations in Nrg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00330:Nrg1
|
APN |
8 |
32,308,117 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00500:Nrg1
|
APN |
8 |
32,312,342 (GRCm39) |
splice site |
probably null |
|
IGL01150:Nrg1
|
APN |
8 |
32,407,903 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01998:Nrg1
|
APN |
8 |
32,408,162 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02010:Nrg1
|
APN |
8 |
32,408,171 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02501:Nrg1
|
APN |
8 |
32,308,291 (GRCm39) |
splice site |
probably null |
|
IGL02741:Nrg1
|
APN |
8 |
32,312,316 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02754:Nrg1
|
APN |
8 |
32,316,391 (GRCm39) |
splice site |
probably benign |
|
IGL03056:Nrg1
|
APN |
8 |
32,311,451 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6805_Nrg1_535
|
UTSW |
8 |
32,311,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R0533:Nrg1
|
UTSW |
8 |
32,321,273 (GRCm39) |
splice site |
probably null |
|
R1170:Nrg1
|
UTSW |
8 |
32,327,695 (GRCm39) |
splice site |
probably benign |
|
R1405:Nrg1
|
UTSW |
8 |
32,407,855 (GRCm39) |
missense |
probably benign |
0.16 |
R1405:Nrg1
|
UTSW |
8 |
32,407,855 (GRCm39) |
missense |
probably benign |
0.16 |
R1486:Nrg1
|
UTSW |
8 |
32,308,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R1642:Nrg1
|
UTSW |
8 |
32,314,536 (GRCm39) |
missense |
probably benign |
0.45 |
R1653:Nrg1
|
UTSW |
8 |
32,308,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R1762:Nrg1
|
UTSW |
8 |
32,312,351 (GRCm39) |
missense |
probably damaging |
0.99 |
R1951:Nrg1
|
UTSW |
8 |
32,408,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R2060:Nrg1
|
UTSW |
8 |
32,408,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R2912:Nrg1
|
UTSW |
8 |
32,308,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R3786:Nrg1
|
UTSW |
8 |
32,311,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R4513:Nrg1
|
UTSW |
8 |
32,967,105 (GRCm39) |
intron |
probably benign |
|
R4569:Nrg1
|
UTSW |
8 |
32,407,802 (GRCm39) |
missense |
probably benign |
0.00 |
R4760:Nrg1
|
UTSW |
8 |
32,408,228 (GRCm39) |
nonsense |
probably null |
|
R4769:Nrg1
|
UTSW |
8 |
32,408,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R4834:Nrg1
|
UTSW |
8 |
32,407,747 (GRCm39) |
missense |
probably benign |
|
R5058:Nrg1
|
UTSW |
8 |
32,314,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R5230:Nrg1
|
UTSW |
8 |
32,308,507 (GRCm39) |
missense |
probably damaging |
0.99 |
R5443:Nrg1
|
UTSW |
8 |
32,339,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R5479:Nrg1
|
UTSW |
8 |
32,308,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R5940:Nrg1
|
UTSW |
8 |
32,339,372 (GRCm39) |
missense |
probably damaging |
0.99 |
R6010:Nrg1
|
UTSW |
8 |
32,308,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R6170:Nrg1
|
UTSW |
8 |
32,308,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R6379:Nrg1
|
UTSW |
8 |
33,373,749 (GRCm39) |
start gained |
probably benign |
|
R6460:Nrg1
|
UTSW |
8 |
32,308,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R6750:Nrg1
|
UTSW |
8 |
32,308,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R6767:Nrg1
|
UTSW |
8 |
32,407,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R6802:Nrg1
|
UTSW |
8 |
32,311,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R6804:Nrg1
|
UTSW |
8 |
32,311,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R6805:Nrg1
|
UTSW |
8 |
32,311,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R6848:Nrg1
|
UTSW |
8 |
32,308,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R6930:Nrg1
|
UTSW |
8 |
32,308,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R6963:Nrg1
|
UTSW |
8 |
32,407,690 (GRCm39) |
missense |
probably benign |
0.04 |
R7070:Nrg1
|
UTSW |
8 |
32,339,465 (GRCm39) |
missense |
probably damaging |
0.99 |
R7176:Nrg1
|
UTSW |
8 |
32,458,064 (GRCm39) |
nonsense |
probably null |
|
R7490:Nrg1
|
UTSW |
8 |
32,308,682 (GRCm39) |
missense |
probably damaging |
1.00 |
R7526:Nrg1
|
UTSW |
8 |
32,308,351 (GRCm39) |
missense |
probably benign |
0.00 |
R7664:Nrg1
|
UTSW |
8 |
32,499,169 (GRCm39) |
splice site |
probably null |
|
R7881:Nrg1
|
UTSW |
8 |
32,328,352 (GRCm39) |
nonsense |
probably null |
|
R8013:Nrg1
|
UTSW |
8 |
32,439,951 (GRCm39) |
missense |
probably benign |
0.41 |
R8342:Nrg1
|
UTSW |
8 |
32,312,334 (GRCm39) |
missense |
probably benign |
0.04 |
R8759:Nrg1
|
UTSW |
8 |
32,308,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R8783:Nrg1
|
UTSW |
8 |
32,448,629 (GRCm39) |
missense |
probably benign |
0.09 |
R9319:Nrg1
|
UTSW |
8 |
32,323,204 (GRCm39) |
missense |
probably benign |
0.02 |
R9429:Nrg1
|
UTSW |
8 |
32,308,592 (GRCm39) |
missense |
probably benign |
0.01 |
R9535:Nrg1
|
UTSW |
8 |
32,439,995 (GRCm39) |
missense |
probably benign |
0.13 |
R9632:Nrg1
|
UTSW |
8 |
32,407,621 (GRCm39) |
missense |
possibly damaging |
0.48 |
Z1088:Nrg1
|
UTSW |
8 |
32,408,033 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Posted On |
2016-08-02 |