Mutagenetix > Incidental Mutation

Incidental Mutation 'R9184:Neurod4'

697255

Institutional Source

Beutler Lab

Gene Symbol

Neurod4

Ensembl Gene

ENSMUSG00000048015

Gene Name

neurogenic differentiation 4

Synonyms

Atoh3, Math3, bHLHa4, MATH-3

MMRRC Submission

068979-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.592) question?

Stock #

R9184 (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 130106958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 105 (D105E)

Ref Sequence

ENSEMBL: ENSMUSP00000051379 (fasta)

Gene Model

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

AlphaFold

O09105

Predicted Effect

probably damaging
Transcript: ENSMUST00000061571
AA Change: D105E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051379
Gene: ENSMUSG00000048015
AA Change: D105E

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: 99.8%
20x: 99.4%

Validation Efficiency

97% (60/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	T	C	8: 107,233,901 (GRCm39)	V199A	unknown	Het
Abca7	A	G	10: 79,838,690 (GRCm39)	H621R	probably damaging	Het
Adam18	T	A	8: 25,137,847 (GRCm39)	N331I	probably benign	Het
Akt1	A	G	12: 112,621,152 (GRCm39)	S475P	possibly damaging	Het
Arc	A	G	15: 74,543,779 (GRCm39)	V148A	probably damaging	Het
Atg2a	T	C	19: 6,291,887 (GRCm39)	L21P	probably damaging	Het
Bltp2	T	C	11: 78,162,214 (GRCm39)	L692S	probably damaging	Het
C1qtnf2	T	C	11: 43,365,180 (GRCm39)	V25A	probably benign	Het
Cald1	G	T	6: 34,730,512 (GRCm39)	E244D	unknown	Het
Cdc42bpa	T	A	1: 179,972,301 (GRCm39)	F1368I	probably benign	Het
Cfap61	G	A	2: 145,919,308 (GRCm39)	C680Y	probably null	Het
Chd1	T	A	17: 15,962,551 (GRCm39)	N769K	possibly damaging	Het
Clasp1	T	A	1: 118,470,908 (GRCm39)	V848E	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Ctsb	G	T	14: 63,375,544 (GRCm39)	G170V	probably damaging	Het
Dnah5	A	G	15: 28,340,552 (GRCm39)	K2320E	probably benign	Het
Fat4	A	T	3: 39,036,592 (GRCm39)	I3415F	probably damaging	Het
Fibcd1	A	G	2: 31,706,488 (GRCm39)	S448P	probably damaging	Het
Filip1	T	C	9: 79,805,542 (GRCm39)	K71E	probably benign	Het
Gad2	G	A	2: 22,558,331 (GRCm39)	V350I	probably benign	Het
Gigyf2	T	A	1: 87,368,311 (GRCm39)	S1032T	possibly damaging	Het
Glis3	T	C	19: 28,509,007 (GRCm39)	T326A	probably damaging	Het
Hspa9	C	T	18: 35,082,168 (GRCm39)	R146H	possibly damaging	Het
Jakmip2	A	G	18: 43,715,352 (GRCm39)	I58T	probably benign	Het
Kcnk15	G	A	2: 163,700,606 (GRCm39)	V282M	probably benign	Het
Klk1b8	A	G	7: 43,602,158 (GRCm39)	N30S	probably benign	Het
Lpin2	T	A	17: 71,540,911 (GRCm39)	Y454*	probably null	Het
Mcam	T	C	9: 44,046,545 (GRCm39)		probably benign	Het
Mms22l	T	C	4: 24,596,182 (GRCm39)	L1047S	probably damaging	Het
Neb	A	G	2: 52,218,767 (GRCm39)	I81T	possibly damaging	Het
Nlrp1b	A	G	11: 71,072,067 (GRCm39)	L592P	probably damaging	Het
Nnt	C	A	13: 119,518,270 (GRCm39)	K302N	probably damaging	Het
Notch4	T	C	17: 34,806,364 (GRCm39)	F1767S	probably damaging	Het
Or4c103	C	A	2: 88,513,519 (GRCm39)	A186S	possibly damaging	Het
Or4c58	T	A	2: 89,675,294 (GRCm39)	I8F	probably benign	Het
Or7g16	T	C	9: 18,727,138 (GRCm39)	I151V	probably benign	Het
Pcdhga4	A	T	18: 37,820,460 (GRCm39)	I670F	possibly damaging	Het
Pdp1	T	C	4: 11,962,143 (GRCm39)	E75G	possibly damaging	Het
Pds5b	T	A	5: 150,724,249 (GRCm39)	N1275K	probably benign	Het
Pink1	G	T	4: 138,048,321 (GRCm39)	Q134K	probably benign	Het
Poli	T	A	18: 70,642,250 (GRCm39)	H650L	probably damaging	Het
Prickle2	G	A	6: 92,388,505 (GRCm39)	P355L	possibly damaging	Het
Prkaca	G	A	8: 84,717,305 (GRCm39)	G194D	probably benign	Het
Ptgs2	A	T	1: 149,980,175 (GRCm39)	Y371F	probably damaging	Het
Rarb	T	A	14: 16,818,882 (GRCm38)		probably benign	Het
Rarb	C	T	14: 16,818,881 (GRCm38)		probably benign	Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,878,292 (GRCm39)		probably benign	Het
Serpinb1b	T	G	13: 33,269,393 (GRCm39)	V42G	probably damaging	Het
Sgsm2	T	A	11: 74,782,834 (GRCm39)	I41F	possibly damaging	Het
Slc26a5	T	A	5: 22,018,880 (GRCm39)	D653V	probably damaging	Het
Slc26a7	C	T	4: 14,506,630 (GRCm39)	V602M	possibly damaging	Het
Slu7	T	C	11: 43,334,224 (GRCm39)	S417P	probably damaging	Het
Smad2	T	A	18: 76,422,171 (GRCm39)	D194E	probably benign	Het
Sntg1	A	T	1: 8,748,056 (GRCm39)	V112E	probably damaging	Het
Strip1	A	T	3: 107,521,979 (GRCm39)	M733K	probably benign	Het
Szt2	G	A	4: 118,241,726 (GRCm39)	S1655L	possibly damaging	Het
Ttn	A	T	2: 76,599,949 (GRCm39)	I19075N	probably benign	Het
Urb2	C	T	8: 124,771,890 (GRCm39)	T1437I	probably benign	Het
Vmn2r111	T	A	17: 22,790,822 (GRCm39)	I159F	probably benign	Het
Zfp78	T	C	7: 6,382,300 (GRCm39)	V450A	probably damaging	Het
Zmynd11	T	A	13: 9,743,475 (GRCm39)	H314L	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
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
R9364:Neurod4	UTSW	10	130,106,840 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GTAGATTGAGGCCCCAGTTG -3'
(R):5'- GCTCGGAACCTTAACTGAAGAG -3'

Sequencing Primer
(F):5'- TGGGTTGAGAGAGACCTTTACATAGC -3'
(R):5'- TCGGAACCTTAACTGAAGAGCATGAC -3'

Posted On

2022-02-07