Incidental Mutation 'R6867:Neurod4'
| ID |
535985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neurod4
|
| Ensembl Gene |
ENSMUSG00000048015 |
| Gene Name |
neurogenic differentiation 4 |
| Synonyms |
Atoh3, Math3, bHLHa4, MATH-3 |
| MMRRC Submission |
045028-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.592)
|
| Stock # |
R6867 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
130104021-130116109 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 130106583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 230
(K230N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061571]
|
| AlphaFold |
O09105 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061571
AA Change: K230N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051379
Gene: ENSMUSG00000048015
AA Change: K230N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
76 |
N/A |
INTRINSIC |
|
HLH
|
93 |
145 |
2.21e-16 |
SMART |
|
Pfam:Neuro_bHLH
|
146 |
263 |
1.3e-41 |
PFAM |
|
| Meta Mutation Damage Score |
0.1481 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: This gene belongs to the neurogenic differentiation factor family and encodes a basic helix-loop-helix (bHLH) transcription factor which is expressed in the developing nervous system with high levels of expression in the brain, retina and cranial ganglions. Expression gradually becomes restricted to the neural retina. It is a key gene in the Ngn2-regulated neuronal differentiation pathway, coordinating the onset of cortical gene transcription. This gene also regulates amacrine cell fate determination in the retina. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced growth, ataxia, and high postnatal mortality. Mutants show impaired postnatal cerebellar development, with thinner inner granular cell and molecular layers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apold1 |
T |
C |
6: 134,961,019 (GRCm39) |
S158P |
possibly damaging |
Het |
| Cep162 |
A |
T |
9: 87,099,134 (GRCm39) |
L788* |
probably null |
Het |
| Cyp7b1 |
T |
C |
3: 18,151,394 (GRCm39) |
Y273C |
probably damaging |
Het |
| Dlx1 |
C |
A |
2: 71,361,353 (GRCm39) |
N122K |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,508,976 (GRCm39) |
I1605K |
probably damaging |
Het |
| Enox1 |
T |
C |
14: 77,936,739 (GRCm39) |
|
probably null |
Het |
| F3 |
T |
C |
3: 121,523,020 (GRCm39) |
S77P |
possibly damaging |
Het |
| Fam186a |
T |
A |
15: 99,843,731 (GRCm39) |
I838L |
unknown |
Het |
| Flrt2 |
T |
C |
12: 95,746,156 (GRCm39) |
F165L |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,427,295 (GRCm39) |
V135E |
possibly damaging |
Het |
| Gm6741 |
T |
C |
17: 91,544,339 (GRCm39) |
L34P |
probably benign |
Het |
| Gna13 |
T |
C |
11: 109,286,948 (GRCm39) |
M257T |
possibly damaging |
Het |
| Hsd11b2 |
G |
A |
8: 106,248,949 (GRCm39) |
R147H |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,266,434 (GRCm39) |
Y2865C |
probably benign |
Het |
| Igdcc3 |
A |
G |
9: 65,090,320 (GRCm39) |
N610D |
probably damaging |
Het |
| Ipp |
T |
A |
4: 116,367,606 (GRCm39) |
|
probably null |
Het |
| Kdm5d |
A |
G |
Y: 927,425 (GRCm39) |
T682A |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,030,460 (GRCm39) |
Y471C |
probably benign |
Het |
| Mprip |
T |
C |
11: 59,640,456 (GRCm39) |
|
probably null |
Het |
| Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
| Myrfl |
T |
A |
10: 116,684,187 (GRCm39) |
R179* |
probably null |
Het |
| Nek1 |
C |
A |
8: 61,525,364 (GRCm39) |
Q601K |
possibly damaging |
Het |
| Or1ab2 |
C |
T |
8: 72,863,707 (GRCm39) |
T99I |
possibly damaging |
Het |
| Or8u10 |
A |
G |
2: 85,916,082 (GRCm39) |
I13T |
possibly damaging |
Het |
| Orc3 |
A |
G |
4: 34,605,539 (GRCm39) |
L114P |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,292 (GRCm39) |
D950G |
probably damaging |
Het |
| Rasgrp2 |
G |
A |
19: 6,463,213 (GRCm39) |
S504N |
probably benign |
Het |
| Rgl2 |
A |
G |
17: 34,151,661 (GRCm39) |
D235G |
probably benign |
Het |
| Slc35e2 |
A |
G |
4: 155,703,157 (GRCm39) |
E390G |
probably benign |
Het |
| Slc39a1 |
T |
A |
3: 90,156,759 (GRCm39) |
V105E |
probably damaging |
Het |
| Tesk2 |
T |
A |
4: 116,658,995 (GRCm39) |
C291S |
probably damaging |
Het |
| Tmco3 |
T |
A |
8: 13,363,927 (GRCm39) |
F83Y |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,901,713 (GRCm39) |
I336T |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,643,170 (GRCm39) |
I4177M |
probably damaging |
Het |
| Veph1 |
T |
A |
3: 66,162,458 (GRCm39) |
T67S |
probably damaging |
Het |
| Vmn2r43 |
A |
G |
7: 8,258,125 (GRCm39) |
F363L |
probably benign |
Het |
| Vps28 |
A |
T |
15: 76,506,871 (GRCm39) |
I109N |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,517,835 (GRCm39) |
D91G |
probably benign |
Het |
| Wdr20 |
T |
C |
12: 110,760,133 (GRCm39) |
F340L |
probably benign |
Het |
| Wdr95 |
A |
G |
5: 149,504,388 (GRCm39) |
|
probably null |
Het |
| Zfand6 |
A |
G |
7: 84,265,122 (GRCm39) |
V193A |
probably damaging |
Het |
| Zfp703 |
C |
A |
8: 27,468,668 (GRCm39) |
P111T |
probably damaging |
Het |
|
| Other mutations in Neurod4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00919:Neurod4
|
APN |
10 |
130,106,683 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01674:Neurod4
|
APN |
10 |
130,106,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0347:Neurod4
|
UTSW |
10 |
130,106,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Neurod4
|
UTSW |
10 |
130,106,540 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1467:Neurod4
|
UTSW |
10 |
130,106,473 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1467:Neurod4
|
UTSW |
10 |
130,106,473 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1965:Neurod4
|
UTSW |
10 |
130,106,918 (GRCm39) |
nonsense |
probably null |
|
|
R3018:Neurod4
|
UTSW |
10 |
130,106,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Neurod4
|
UTSW |
10 |
130,106,351 (GRCm39) |
missense |
probably benign |
|
|
R5491:Neurod4
|
UTSW |
10 |
130,106,936 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5655:Neurod4
|
UTSW |
10 |
130,107,002 (GRCm39) |
nonsense |
probably null |
|
|
R5705:Neurod4
|
UTSW |
10 |
130,107,271 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R6143:Neurod4
|
UTSW |
10 |
130,106,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6800:Neurod4
|
UTSW |
10 |
130,106,661 (GRCm39) |
nonsense |
probably null |
|
|
R7396:Neurod4
|
UTSW |
10 |
130,106,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7401:Neurod4
|
UTSW |
10 |
130,106,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Neurod4
|
UTSW |
10 |
130,106,356 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8782:Neurod4
|
UTSW |
10 |
130,106,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9130:Neurod4
|
UTSW |
10 |
130,106,427 (GRCm39) |
nonsense |
probably null |
|
|
R9184:Neurod4
|
UTSW |
10 |
130,106,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9364:Neurod4
|
UTSW |
10 |
130,106,840 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACAGGAACATCATAGCGGG -3'
(R):5'- AACTGGGGCCTCAATCTACC -3'
Sequencing Primer
(F):5'- AGTTGAATGCACATGCCCTG -3'
(R):5'- TCTACCCTCCTGGAGAAGCATG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation