Mutagenetix > Incidental Mutation

Incidental Mutation 'R5705:Neurod4'

451933

Institutional Source

Beutler Lab

Gene Symbol

Neurod4

Ensembl Gene

ENSMUSG00000048015

Gene Name

neurogenic differentiation 4

Synonyms

Atoh3, Math3, bHLHa4, MATH-3

MMRRC Submission

043330-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.592) question?

Stock #

R5705 (G1)

Quality Score

101

Status

Not validated

Chromosome

Chromosomal Location

130104021-130116109 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 130107271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000051379 (fasta)

Gene Model

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

AlphaFold

O09105

Predicted Effect

probably null
Transcript: ENSMUST00000061571
AA Change: M1T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000051379
Gene: ENSMUSG00000048015
AA Change: M1T

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,851,276 (GRCm39)	V2163A	probably benign	Het
Abcg3	G	A	5: 105,116,036 (GRCm39)	A266V	probably damaging	Het
Ago1	T	C	4: 126,342,587 (GRCm39)	I519V	probably benign	Het
Arhgap4	G	A	X: 72,950,423 (GRCm39)	R43W	probably damaging	Het
Aurkb	T	A	11: 68,939,641 (GRCm39)	L213I	possibly damaging	Het
Bod1l	T	A	5: 41,974,345 (GRCm39)	Q2323L	probably benign	Het
Calhm5	A	T	10: 33,971,989 (GRCm39)	C149S	probably damaging	Het
Ccdc17	C	T	4: 116,454,066 (GRCm39)	T28I	probably benign	Het
Ccdc39	T	C	3: 33,871,086 (GRCm39)	E630G	probably damaging	Het
Cnih4	A	G	1: 180,981,300 (GRCm39)	I24V	probably benign	Het
Ctse	C	A	1: 131,592,112 (GRCm39)	T146K	possibly damaging	Het
Ctsr	A	G	13: 61,309,078 (GRCm39)	F226L	probably damaging	Het
Cyp2a22	T	C	7: 26,638,640 (GRCm39)	N49D	probably benign	Het
Defb23	C	T	2: 152,301,204 (GRCm39)	A123T	probably benign	Het
Dtx2	C	A	5: 136,039,149 (GRCm39)	D69E	probably damaging	Het
Eps8l1	T	C	7: 4,473,034 (GRCm39)	V91A	probably benign	Het
Eps8l3	C	A	3: 107,798,580 (GRCm39)	Q489K	probably benign	Het
Esyt3	A	G	9: 99,200,260 (GRCm39)	S645P	probably benign	Het
Fam161a	T	A	11: 22,978,869 (GRCm39)	M472K	unknown	Het
Glp2r	A	G	11: 67,600,565 (GRCm39)	V428A	probably benign	Het
Gnl1	G	A	17: 36,292,492 (GRCm39)	V191I	probably benign	Het
Hfm1	T	C	5: 107,059,319 (GRCm39)	I234M	probably benign	Het
Hlx	T	C	1: 184,463,062 (GRCm39)	T197A	probably benign	Het
Hs3st2	T	C	7: 120,992,305 (GRCm39)	L85P	probably damaging	Het
Igsf9	T	C	1: 172,322,338 (GRCm39)	V511A	possibly damaging	Het
Insyn2b	A	G	11: 34,354,349 (GRCm39)	Y473C	probably damaging	Het
Kcnma1	A	T	14: 24,053,839 (GRCm39)	C54S	possibly damaging	Het
Klhdc4	A	G	8: 122,531,732 (GRCm39)	V181A	probably benign	Het
Ldb3	T	C	14: 34,298,986 (GRCm39)	M213V	probably null	Het
Mertk	C	A	2: 128,613,321 (GRCm39)	Q446K	probably benign	Het
Ndufs1	A	G	1: 63,186,317 (GRCm39)	V46A	probably benign	Het
Nlrc5	T	A	8: 95,202,385 (GRCm39)	C162S	probably benign	Het
Pald1	A	G	10: 61,159,076 (GRCm39)	I785T	possibly damaging	Het
Pcmt1	T	C	10: 7,513,954 (GRCm39)	I224M	possibly damaging	Het
Pisd	C	T	5: 32,894,707 (GRCm39)	R533H	probably benign	Het
Plcxd3	C	A	15: 4,546,676 (GRCm39)	Q227K	probably benign	Het
Polr1b	A	T	2: 128,947,271 (GRCm39)	K199*	probably null	Het
Ppp1r10	T	C	17: 36,240,381 (GRCm39)	V557A	probably damaging	Het
Ralgapa2	A	G	2: 146,291,193 (GRCm39)	Y248H	probably damaging	Het
Rsrp1	T	C	4: 134,651,331 (GRCm39)	S32P	unknown	Het
Setdb2	T	G	14: 59,660,814 (GRCm39)	S110R	possibly damaging	Het
Srcin1	A	G	11: 97,439,777 (GRCm39)	C152R	probably benign	Het
Syk	A	G	13: 52,765,083 (GRCm39)	N70S	probably benign	Het
Tlr4	T	A	4: 66,752,217 (GRCm39)	D59E	probably damaging	Het
Tm9sf4	T	A	2: 153,024,378 (GRCm39)	I67N	probably benign	Het
Trim30b	T	A	7: 104,006,784 (GRCm39)	Y24F	probably damaging	Het
Tsga13	A	G	6: 30,876,951 (GRCm39)	S189P	probably damaging	Het
Tspan33	A	G	6: 29,717,232 (GRCm39)	D210G	probably benign	Het
Use1	G	T	8: 71,822,331 (GRCm39)	R278L	probably damaging	Het
Wwc1	T	C	11: 35,767,423 (GRCm39)	N403D	probably damaging	Het
Zfp263	C	T	16: 3,564,318 (GRCm39)	P203S	probably benign	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
R6143:Neurod4	UTSW	10	130,106,869 (GRCm39)	missense	probably damaging	1.00
R6800:Neurod4	UTSW	10	130,106,661 (GRCm39)	nonsense	probably null
R6867:Neurod4	UTSW	10	130,106,583 (GRCm39)	missense	probably damaging	1.00
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'- CTGAATCTTTCAAGGCGAGC -3'
(R):5'- TTTAAATTGACAGCTGGGCAAG -3'

Sequencing Primer
(F):5'- TCAAGGCGAGCTTTAGTCATC -3'
(R):5'- CAAGGTCTCATGTAGCTCAGACTG -3'

Posted On

2017-01-03