Mutagenetix > Incidental Mutation

Incidental Mutation 'R7961:Neurod4'

650123

Institutional Source

Beutler Lab

Gene Symbol

Neurod4

Ensembl Gene

ENSMUSG00000048015

Gene Name

neurogenic differentiation 4

Synonyms

Atoh3, Math3, bHLHa4, MATH-3

MMRRC Submission

046005-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.592) question?

Stock #

R7961 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130104021-130116109 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130106356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 306 (V306D)

Ref Sequence

ENSEMBL: ENSMUSP00000051379 (fasta)

Gene Model

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

AlphaFold

O09105

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061571
AA Change: V306D

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000051379
Gene: ENSMUSG00000048015
AA Change: V306D

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,878,870 (GRCm39)	N751K	possibly damaging	Het
Bckdha	G	A	7: 25,330,903 (GRCm39)	R288W	probably damaging	Het
Ccng1	G	A	11: 40,642,096 (GRCm39)	H229Y	probably benign	Het
Cenpn	C	A	8: 117,663,976 (GRCm39)	T256N	probably benign	Het
Ciart	A	G	3: 95,788,629 (GRCm39)	V70A	possibly damaging	Het
Clcc1	A	G	3: 108,568,774 (GRCm39)	N36S	probably damaging	Het
Cntnap1	G	A	11: 101,069,121 (GRCm39)	A192T	probably benign	Het
Dmrt1	T	A	19: 25,523,245 (GRCm39)	S199T	possibly damaging	Het
Dmrt3	T	C	19: 25,588,272 (GRCm39)	V37A	possibly damaging	Het
Dock1	T	A	7: 134,346,786 (GRCm39)	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,063,995 (GRCm39)		probably null	Het
Engase	A	G	11: 118,377,686 (GRCm39)	D571G	possibly damaging	Het
Gm45871	C	T	18: 90,609,883 (GRCm39)	H374Y	probably damaging	Het
Icam5	T	C	9: 20,950,051 (GRCm39)	V870A	possibly damaging	Het
Idh2	T	C	7: 79,748,001 (GRCm39)	H233R	probably benign	Het
Kcna5	A	G	6: 126,510,517 (GRCm39)	L537P	probably benign	Het
Krt71	T	C	15: 101,643,877 (GRCm39)	I454V	probably damaging	Het
Krtap5-4	C	T	7: 141,857,671 (GRCm39)	Q114*	probably null	Het
Loxl3	T	C	6: 83,027,790 (GRCm39)	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,659,498 (GRCm39)	T420I	probably damaging	Het
Mia2	T	A	12: 59,206,425 (GRCm39)		probably null	Het
Nkiras2	A	T	11: 100,510,628 (GRCm39)		probably benign	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,103,076 (GRCm39)	D408V	probably benign	Het
Nubpl	T	A	12: 52,228,080 (GRCm39)	L168*	probably null	Het
Odf1	A	G	15: 38,226,840 (GRCm39)	I247V	unknown	Het
Or4c35	A	G	2: 89,808,131 (GRCm39)	Q3R	probably benign	Het
Or4k48	G	A	2: 111,476,282 (GRCm39)	S20F	probably damaging	Het
Or5d41	C	A	2: 88,055,033 (GRCm39)	M114I	possibly damaging	Het
Pcsk1	T	C	13: 75,274,958 (GRCm39)	S516P	probably benign	Het
Pikfyve	A	G	1: 65,294,293 (GRCm39)	D1411G	probably damaging	Het
Polm	T	C	11: 5,780,155 (GRCm39)	D294G	possibly damaging	Het
Ppcs	A	T	4: 119,276,262 (GRCm39)	S281T	probably benign	Het
Pramel34	T	C	5: 93,784,543 (GRCm39)	D307G	probably damaging	Het
Pspc1	G	A	14: 57,009,304 (GRCm39)	Q177*	probably null	Het
Rbm33	G	A	5: 28,599,606 (GRCm39)	G185R		Het
Satb2	A	G	1: 56,910,917 (GRCm39)	S243P	probably benign	Het
Serinc5	T	C	13: 92,797,699 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,430,510 (GRCm39)	T292A	probably damaging	Het
Smad3	G	A	9: 63,557,564 (GRCm39)	R420C	possibly damaging	Het
Sntg1	C	T	1: 8,433,794 (GRCm39)	V486I	probably damaging	Het
Tep1	A	G	14: 51,061,687 (GRCm39)	S2610P	possibly damaging	Het
Tmem200a	A	G	10: 25,869,904 (GRCm39)	S122P	probably damaging	Het
Tnks2	T	A	19: 36,829,901 (GRCm39)	M194K	probably benign	Het
Trav14d-3-dv8	A	C	14: 53,316,224 (GRCm39)	Q28P	probably damaging	Het
Trpm5	T	C	7: 142,634,106 (GRCm39)	E700G	probably benign	Het
Ubqln3	T	A	7: 103,791,797 (GRCm39)	I98L	probably benign	Het
Usp25	A	G	16: 76,856,150 (GRCm39)	I248V	probably damaging	Het
Vmn1r28	T	C	6: 58,242,178 (GRCm39)	V7A	probably benign	Het
Zfp60	G	A	7: 27,447,881 (GRCm39)	G183D	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
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
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
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'- TACAGGAAGTTCTGAACAAACTAGGAC -3'
(R):5'- ATCCACCTGACTGCAGTACC -3'

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

Posted On

2020-09-15