Mutagenetix > Incidental Mutation

Incidental Mutation 'R6800:Neurod4'

533286

Institutional Source

Beutler Lab

Gene Symbol

Neurod4

Ensembl Gene

ENSMUSG00000048015

Gene Name

neurogenic differentiation 4

Synonyms

Atoh3, Math3, bHLHa4, MATH-3

MMRRC Submission

044913-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.592) question?

Stock #

R6800 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130104021-130116109 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 130106661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 204 (Y204*)

Ref Sequence

ENSEMBL: ENSMUSP00000051379 (fasta)

Gene Model

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

AlphaFold

O09105

Predicted Effect

probably null
Transcript: ENSMUST00000061571
AA Change: Y204*

SMART Domains

Protein: ENSMUSP00000051379
Gene: ENSMUSG00000048015
AA Change: Y204*

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	G	A	13: 60,992,948 (GRCm39)	P244S	probably damaging	Het
9130023H24Rik	C	A	7: 127,836,742 (GRCm39)		probably benign	Het
Acoxl	A	T	2: 127,852,085 (GRCm39)	Q129L	probably damaging	Het
Akna	T	C	4: 63,316,268 (GRCm39)	T32A	probably benign	Het
Alox15	C	T	11: 70,235,645 (GRCm39)		probably null	Het
Antxrl	T	C	14: 33,787,864 (GRCm39)	S296P	probably damaging	Het
Arrb2	G	T	11: 70,328,142 (GRCm39)	G52*	probably null	Het
Bltp2	T	C	11: 78,179,105 (GRCm39)	F2091S	probably benign	Het
Capn2	A	T	1: 182,309,045 (GRCm39)	I499N	probably damaging	Het
Cfhr4	T	A	1: 139,629,719 (GRCm39)	D683V	possibly damaging	Het
Cspg4b	T	A	13: 113,504,686 (GRCm39)	D396E	probably benign	Het
Cubn	T	A	2: 13,326,066 (GRCm39)	I2700F	probably damaging	Het
Cypt4	A	T	9: 24,536,965 (GRCm39)	N152Y	probably benign	Het
Dmxl2	T	C	9: 54,316,467 (GRCm39)	N1640D	probably damaging	Het
Dnah7b	A	T	1: 46,379,377 (GRCm39)	N3704Y	possibly damaging	Het
Dnah9	A	G	11: 65,963,565 (GRCm39)		probably null	Het
Elac2	G	A	11: 64,890,265 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,433,029 (GRCm39)		probably null	Het
Espnl	T	C	1: 91,270,351 (GRCm39)	V386A	probably damaging	Het
Fbxl6	T	A	15: 76,422,898 (GRCm39)		probably benign	Het
Fdps	A	C	3: 89,008,068 (GRCm39)	F17V	probably damaging	Het
Gigyf2	T	C	1: 87,346,898 (GRCm39)	I576T	possibly damaging	Het
Gm20939	A	G	17: 95,184,657 (GRCm39)	E435G	possibly damaging	Het
Hivep1	G	A	13: 42,310,852 (GRCm39)	V1031I	probably damaging	Het
Hydin	T	G	8: 111,324,603 (GRCm39)	S4655A	probably benign	Het
Ifrd1	T	A	12: 40,273,157 (GRCm39)		probably benign	Het
Iqgap1	G	T	7: 80,378,729 (GRCm39)	T1219K	possibly damaging	Het
Lmtk3	G	A	7: 45,443,233 (GRCm39)	E639K	possibly damaging	Het
Map3k5	A	G	10: 20,017,326 (GRCm39)	*1373W	probably null	Het
Mia2	G	A	12: 59,235,332 (GRCm39)		probably null	Het
Micu2	T	C	14: 58,156,896 (GRCm39)	D313G	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,371 (GRCm39)	S77P	probably damaging	Het
Mrpl51	T	C	6: 125,169,367 (GRCm39)	V17A	probably benign	Het
Or2n1	A	G	17: 38,486,013 (GRCm39)	I13V	probably benign	Het
Or56a42-ps1	A	T	7: 104,776,217 (GRCm39)	V97E	probably benign	Het
Or5p67	G	A	7: 107,922,460 (GRCm39)	T141I	probably benign	Het
Or6c66b	A	T	10: 129,377,132 (GRCm39)	H242L	probably damaging	Het
Pate2	T	C	9: 35,596,941 (GRCm39)		probably benign	Het
Pcdhgb8	G	A	18: 37,896,580 (GRCm39)	R550Q	probably benign	Het
Phldb3	T	C	7: 24,323,577 (GRCm39)	L437P	possibly damaging	Het
Pianp	C	A	6: 124,978,565 (GRCm39)	P257T	possibly damaging	Het
Rbbp6	T	A	7: 122,584,287 (GRCm39)	H140Q	possibly damaging	Het
Rfx2	A	G	17: 57,087,804 (GRCm39)	I529T	probably damaging	Het
Rnf113a1	A	C	X: 36,455,840 (GRCm39)	T266P	probably benign	Het
Rp1l1	T	C	14: 64,268,599 (GRCm39)	I1395T	possibly damaging	Het
Rps6ka2	A	C	17: 7,519,035 (GRCm39)	K186Q	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Rtel1	C	A	2: 180,964,256 (GRCm39)	T85N	probably benign	Het
Rtn4rl2	T	C	2: 84,710,967 (GRCm39)	N99S	probably damaging	Het
Ryr1	C	T	7: 28,723,741 (GRCm39)	G4106D	possibly damaging	Het
Scgb2b24	A	G	7: 33,437,894 (GRCm39)	V71A	probably benign	Het
Sgip1	A	G	4: 102,778,225 (GRCm39)		probably benign	Het
Slc12a4	G	A	8: 106,676,371 (GRCm39)	T515I	probably damaging	Het
Spag1	C	T	15: 36,197,895 (GRCm39)	R286*	probably null	Het
Strbp	C	T	2: 37,515,228 (GRCm39)	R266Q	probably damaging	Het
Strn	G	T	17: 78,977,787 (GRCm39)		probably benign	Het
Thnsl2	C	A	6: 71,118,264 (GRCm39)	V55L	probably benign	Het
Tmem178b	A	T	6: 40,231,858 (GRCm39)	Q164L	unknown	Het
Tmprss6	C	T	15: 78,324,457 (GRCm39)	R786H	probably damaging	Het
Ttc21a	T	A	9: 119,770,268 (GRCm39)	L113Q	possibly damaging	Het
Ttc21b	T	C	2: 66,038,994 (GRCm39)		probably null	Het
Vmn2r51	T	C	7: 9,832,191 (GRCm39)	D465G	probably damaging	Het
Vmp1	A	C	11: 86,556,913 (GRCm39)		probably null	Het
Wdcp	T	C	12: 4,901,358 (GRCm39)	F405L	probably damaging	Het
Zfhx3	A	T	8: 109,676,149 (GRCm39)	T2400S	probably benign	Het
Zfp27	T	C	7: 29,593,860 (GRCm39)	T702A	probably benign	Het
Zfp87	T	C	13: 74,520,080 (GRCm39)	S333G	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
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'- GTTGCCACTAATGCTCAGGG -3'
(R):5'- CTCTTCGACTGGCAAGGAAC -3'

Sequencing Primer
(F):5'- CCACTAATGCTCAGGGGTGGTG -3'
(R):5'- AAGGAACTACATCTGGGCCTTGTC -3'

Posted On

2018-09-12