Incidental Mutation 'IGL01150:Nrg1'
| ID |
51841 |
| 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 # |
IGL01150
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32407903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 110
(T110I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208497]
[ENSMUST00000208819]
[ENSMUST00000209022]
[ENSMUST00000208931]
[ENSMUST00000208488]
[ENSMUST00000209107]
[ENSMUST00000208598]
[ENSMUST00000208617]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073884
AA Change: T110I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: T110I
| 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: ENSMUST00000207584
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207678
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208206
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208497
AA Change: T110I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208820
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209022
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208335
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208931
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208488
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209107
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208617
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,752,550 (GRCm39) |
D507G |
possibly damaging |
Het |
| Actl6a |
A |
G |
3: 32,766,313 (GRCm39) |
I60V |
probably benign |
Het |
| Adra2c |
T |
C |
5: 35,438,485 (GRCm39) |
F419S |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,918,618 (GRCm39) |
Y105C |
probably damaging |
Het |
| Arid4b |
C |
T |
13: 14,369,959 (GRCm39) |
Q1152* |
probably null |
Het |
| Arsj |
A |
G |
3: 126,232,433 (GRCm39) |
D393G |
probably benign |
Het |
| Avp |
T |
C |
2: 130,422,593 (GRCm39) |
|
probably benign |
Het |
| Cacna2d3 |
C |
T |
14: 28,905,598 (GRCm39) |
V390I |
possibly damaging |
Het |
| Ccdc25 |
T |
A |
14: 66,097,651 (GRCm39) |
M195K |
possibly damaging |
Het |
| Cdhr2 |
T |
A |
13: 54,878,931 (GRCm39) |
S979T |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,269,630 (GRCm39) |
F390S |
possibly damaging |
Het |
| Dennd5b |
A |
G |
6: 148,969,583 (GRCm39) |
V290A |
probably benign |
Het |
| Ebf1 |
T |
C |
11: 44,759,927 (GRCm39) |
L188P |
probably damaging |
Het |
| Galt |
T |
C |
4: 41,757,786 (GRCm39) |
|
probably benign |
Het |
| Gm12830 |
C |
T |
4: 114,702,261 (GRCm39) |
T141I |
unknown |
Het |
| Herc2 |
T |
A |
7: 55,830,881 (GRCm39) |
W2965R |
probably damaging |
Het |
| Hrg |
A |
G |
16: 22,777,909 (GRCm39) |
|
probably null |
Het |
| Ighv8-5 |
T |
C |
12: 115,031,194 (GRCm39) |
Y115C |
probably damaging |
Het |
| Igkv12-89 |
A |
G |
6: 68,812,127 (GRCm39) |
V14A |
probably benign |
Het |
| Nav2 |
A |
C |
7: 49,102,269 (GRCm39) |
T295P |
probably benign |
Het |
| Niban1 |
T |
C |
1: 151,593,472 (GRCm39) |
V719A |
probably benign |
Het |
| Or4c31 |
T |
C |
2: 88,292,419 (GRCm39) |
V264A |
possibly damaging |
Het |
| Or51h1 |
A |
C |
7: 102,308,699 (GRCm39) |
K224Q |
probably benign |
Het |
| Or7g29 |
A |
T |
9: 19,286,535 (GRCm39) |
I214N |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,726,926 (GRCm39) |
|
probably benign |
Het |
| Polg2 |
T |
C |
11: 106,668,258 (GRCm39) |
|
probably null |
Het |
| Ptges |
G |
T |
2: 30,782,720 (GRCm39) |
R111S |
probably damaging |
Het |
| Rbbp4 |
T |
C |
4: 129,216,668 (GRCm39) |
|
probably benign |
Het |
| Rundc3a |
T |
C |
11: 102,284,602 (GRCm39) |
V34A |
probably benign |
Het |
| Scn3a |
C |
A |
2: 65,327,709 (GRCm39) |
|
probably null |
Het |
| Sec14l3 |
T |
C |
11: 4,026,238 (GRCm39) |
|
probably benign |
Het |
| Strip1 |
C |
T |
3: 107,534,047 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
A |
4: 58,070,302 (GRCm39) |
I2495F |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,393,154 (GRCm39) |
S71P |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tmem161b |
C |
T |
13: 84,440,526 (GRCm39) |
R133* |
probably null |
Het |
| Tnnc2 |
A |
T |
2: 164,619,753 (GRCm39) |
I71N |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,875,845 (GRCm39) |
N1554S |
probably benign |
Het |
| Wfdc3 |
A |
T |
2: 164,574,123 (GRCm39) |
|
probably benign |
Het |
| Zfp648 |
A |
T |
1: 154,081,110 (GRCm39) |
H423L |
probably damaging |
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 |
|
|
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 |
|
IGL03121:Nrg1
|
APN |
8 |
32,314,608 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-06-21 |
Incidental Mutation