Mutagenetix > Incidental Mutation

Incidental Mutation 'R3847:Neurod4'

277442

Institutional Source

Beutler Lab

Gene Symbol

Neurod4

Ensembl Gene

ENSMUSG00000048015

Gene Name

neurogenic differentiation 4

Synonyms

bHLHa4, MATH-3, Atoh3, Math3

MMRRC Submission

040895-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.546) question?

Stock #

R3847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130268152-130280240 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130270482 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 308 (V308I)

Ref Sequence

ENSEMBL: ENSMUSP00000051379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061571]

AlphaFold

O09105

Predicted Effect

probably benign
Transcript: ENSMUST00000061571
AA Change: V308I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051379
Gene: ENSMUSG00000048015
AA Change: V308I

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (66/66)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,736,324		probably null	Het
Abcc12	C	T	8: 86,553,391	E338K	probably benign	Het
Abcc5	A	T	16: 20,372,156	S815T	probably benign	Het
Ankrd16	G	A	2: 11,789,808	E335K	probably benign	Het
Atm	A	G	9: 53,503,075	F905S	possibly damaging	Het
Bckdha	C	T	7: 25,631,652	R281H	probably damaging	Het
Blvra	C	T	2: 127,095,191	T188I	probably damaging	Het
Bmp8b	C	A	4: 123,116,168		probably benign	Het
Cacna2d3	A	G	14: 29,347,120		probably null	Het
Cacng8	T	C	7: 3,394,474	S84P	probably damaging	Het
Cad	T	A	5: 31,061,650	V605E	probably damaging	Het
Ccny	A	G	18: 9,449,641	S11P	probably benign	Het
Col3a1	C	A	1: 45,321,990	P112T	unknown	Het
Corin	T	C	5: 72,422,165	E155G	probably benign	Het
Cul9	T	C	17: 46,525,135	Y1195C	probably damaging	Het
Cyp27a1	A	G	1: 74,737,559	E501G	probably damaging	Het
Dennd3	T	A	15: 73,542,732	N457K	possibly damaging	Het
Dnah7a	T	G	1: 53,501,656	I2520L	probably benign	Het
Dst	C	T	1: 34,212,319	S4165F	probably damaging	Het
Fgf14	A	C	14: 123,980,389	I234R	probably benign	Het
Foxp4	A	G	17: 47,875,528	I442T	unknown	Het
Gad2	T	G	2: 22,684,988	D472E	probably benign	Het
Garnl3	G	T	2: 32,992,228	H832N	probably benign	Het
Gm13941	T	C	2: 111,104,853	M11V	unknown	Het
Gnptab	T	A	10: 88,433,577	L714*	probably null	Het
Golgb1	C	A	16: 36,898,733	Q334K	probably benign	Het
Gp9	A	G	6: 87,779,151	I49M	probably benign	Het
Guf1	A	G	5: 69,561,157	N213S	probably damaging	Het
H2-K1	T	G	17: 33,997,329	H281P	probably damaging	Het
Hhip	T	A	8: 79,997,495	M373L	probably benign	Het
Ifi203	C	T	1: 173,933,796	C229Y	possibly damaging	Het
Ighv13-2	A	G	12: 114,357,798	L88S	probably damaging	Het
Kcna3	T	C	3: 107,036,696	Y92H	possibly damaging	Het
Lmo7	A	G	14: 101,922,095		probably null	Het
Lrguk	A	G	6: 34,073,768	D387G	probably damaging	Het
Mki67	A	C	7: 135,696,130	S2392A	probably benign	Het
Mknk2	C	T	10: 80,667,975	W367*	probably null	Het
Mocos	A	G	18: 24,676,662	K441E	probably damaging	Het
Mpnd	T	C	17: 56,011,692	S150P	probably damaging	Het
Naip2	A	T	13: 100,179,432	L280Q	probably damaging	Het
Naip2	G	C	13: 100,179,433	L280V	probably damaging	Het
Nxf3	C	T	X: 136,073,983	V474I	probably benign	Het
Olfr1037	A	T	2: 86,085,407	Y123*	probably null	Het
Olfr976	A	T	9: 39,956,581	M118K	probably damaging	Het
Pam	T	A	1: 97,854,756		probably benign	Het
Pde5a	T	C	3: 122,803,160	Y467H	probably damaging	Het
Pibf1	T	A	14: 99,137,121	V332E	possibly damaging	Het
Plxna1	C	A	6: 89,356,519	R376L	probably damaging	Het
Proz	A	G	8: 13,073,533	E268G	probably benign	Het
Rimbp3	A	T	16: 17,210,299	H529L	probably benign	Het
Rnf103	C	G	6: 71,508,875	C163W	probably damaging	Het
Rnf17	T	C	14: 56,512,296	V1433A	probably damaging	Het
Sept11	G	T	5: 93,162,167	M276I	probably damaging	Het
Slc30a4	A	G	2: 122,702,272	V50A	probably damaging	Het
Sorbs1	A	G	19: 40,314,443	V570A	probably damaging	Het
Spout1	T	C	2: 30,177,407		probably null	Het
Syne2	T	C	12: 76,048,622	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,868,675	I223N	probably damaging	Het
Tead2	T	A	7: 45,232,328		probably null	Het
Thsd1	A	G	8: 22,259,411	H713R	probably damaging	Het
Ttc21b	A	G	2: 66,242,679	L221S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,208,690	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,460,415	H612N	probably damaging	Het
Wnk1	C	T	6: 119,969,354	G613S	possibly damaging	Het
Zbtb41	T	A	1: 139,423,996	H282Q	probably benign	Het
Zfp335	C	A	2: 164,900,106		probably null	Het
Zmym2	T	A	14: 56,921,499		probably benign	Het

Other mutations in Neurod4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00919:Neurod4	APN	10	130270814	missense	probably damaging	0.96
IGL01674:Neurod4	APN	10	130271018	missense	probably damaging	1.00
R0347:Neurod4	UTSW	10	130271111	missense	probably damaging	1.00
R1436:Neurod4	UTSW	10	130270671	missense	possibly damaging	0.87
R1467:Neurod4	UTSW	10	130270604	missense	probably benign	0.03
R1467:Neurod4	UTSW	10	130270604	missense	probably benign	0.03
R1965:Neurod4	UTSW	10	130271049	nonsense	probably null
R3018:Neurod4	UTSW	10	130270955	missense	probably damaging	1.00
R5491:Neurod4	UTSW	10	130271067	missense	possibly damaging	0.95
R5655:Neurod4	UTSW	10	130271133	nonsense	probably null
R5705:Neurod4	UTSW	10	130271402	start codon destroyed	probably null	0.99
R6143:Neurod4	UTSW	10	130271000	missense	probably damaging	1.00
R6800:Neurod4	UTSW	10	130270792	nonsense	probably null
R6867:Neurod4	UTSW	10	130270714	missense	probably damaging	1.00
R7396:Neurod4	UTSW	10	130271022	missense	probably damaging	1.00
R7401:Neurod4	UTSW	10	130271058	missense	probably damaging	1.00
R7961:Neurod4	UTSW	10	130270487	missense	possibly damaging	0.59
R8782:Neurod4	UTSW	10	130271079	missense	probably damaging	1.00
R9130:Neurod4	UTSW	10	130270558	nonsense	probably null
R9184:Neurod4	UTSW	10	130271089	missense	probably damaging	1.00
R9364:Neurod4	UTSW	10	130270971	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CAGGTACAGGAAGTTCTGAACAAAC -3'
(R):5'- ATCCACCTGACTGCAGTACC -3'

Sequencing Primer
(F):5'- TGTTTGATGCATATCCAAAGGTTC -3'
(R):5'- GCTCCCCTGATTTGGAAA -3'

Posted On

2015-04-06