Mutagenetix > Incidental Mutation

Incidental Mutation 'R8465:Neurod1'

656741

Institutional Source

Beutler Lab

Gene Symbol

Neurod1

Ensembl Gene

ENSMUSG00000034701

Gene Name

neurogenic differentiation 1

Synonyms

Nd1, bHLHa3, Neurod, BETA2

MMRRC Submission

067909-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R8465 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79282981-79286980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79284696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 229 (P229Q)

Ref Sequence

ENSEMBL: ENSMUSP00000040364 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041099]

AlphaFold

Q60867

PDB Structure

Crystal Structure of the basic-helix-loop-helix domains of the heterodimer E47/NeuroD1 bound to DNA [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000041099
AA Change: P229Q

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

SMART Domains

Protein: ENSMUSP00000040364
Gene: ENSMUSG00000034701
AA Change: P229Q

Domain	Start	End	E-Value	Type
coiled coil region	27	84	N/A	INTRINSIC
HLH	107	159	9.63e-17	SMART
Pfam:Neuro_bHLH	160	284	1.1e-47	PFAM

Meta Mutation Damage Score

0.4737

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit neonatal diabetes, pancreatic enteroendocrine cell deficits, impaired hearing and balance, retinal degeneration, and seizures. Survival past birth is dependent on genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot6	A	T	12: 84,153,215 (GRCm39)		probably null	Het
Adamtsl3	A	T	7: 82,247,330 (GRCm39)	N1429Y	probably benign	Het
Adk	T	C	14: 21,153,892 (GRCm39)	S32P	possibly damaging	Het
Akap13	A	T	7: 75,376,786 (GRCm39)	M2005L	probably benign	Het
Atp10a	A	T	7: 58,478,058 (GRCm39)	D1367V	probably benign	Het
Bckdhb	A	G	9: 83,870,915 (GRCm39)	I142V	probably benign	Het
Brap	C	T	5: 121,817,358 (GRCm39)	Q322*	probably null	Het
Carmil3	A	T	14: 55,734,305 (GRCm39)	N401I	probably damaging	Het
Cdan1	A	T	2: 120,558,921 (GRCm39)	S426T	possibly damaging	Het
Cdc27	C	A	11: 104,408,317 (GRCm39)	S531I	probably benign	Het
Cela3a	A	T	4: 137,131,185 (GRCm39)	Y184*	probably null	Het
Cep63	T	C	9: 102,490,576 (GRCm39)	K178R	probably benign	Het
Cfb	G	A	17: 35,076,290 (GRCm39)	Q152*	probably null	Het
Cnpy2	G	A	10: 128,162,044 (GRCm39)	V106I	probably benign	Het
Cntn1	GCTGTCTTC	GC	15: 92,237,404 (GRCm39)		probably null	Het
Ctc1	G	A	11: 68,917,045 (GRCm39)	G67D	probably damaging	Het
Cwc27	G	T	13: 104,940,772 (GRCm39)	P196T	probably benign	Het
Cwc27	C	A	13: 104,940,776 (GRCm39)	L194F	possibly damaging	Het
Cyp2d12	T	G	15: 82,439,378 (GRCm39)	S11A	possibly damaging	Het
Ddx55	T	A	5: 124,697,184 (GRCm39)		probably null	Het
Dedd2	G	T	7: 24,918,331 (GRCm39)	R75S	probably damaging	Het
Fat2	G	A	11: 55,147,530 (GRCm39)	S3904F	possibly damaging	Het
Fibp	G	A	19: 5,513,215 (GRCm39)	V177I	probably damaging	Het
Fsip2	A	T	2: 82,810,284 (GRCm39)	E2201V	probably benign	Het
Gbp11	C	T	5: 105,472,928 (GRCm39)	D499N	probably benign	Het
Gfm1	A	G	3: 67,339,032 (GRCm39)	E45G	probably damaging	Het
H2-D1	A	G	17: 35,482,487 (GRCm39)	Y69C	probably damaging	Het
Hcar1	A	G	5: 124,017,109 (GRCm39)	F194S	probably damaging	Het
Heatr4	A	T	12: 84,024,707 (GRCm39)		probably null	Het
Kcnd2	G	A	6: 21,216,695 (GRCm39)	C133Y	probably damaging	Het
Kcnq1	A	T	7: 142,979,711 (GRCm39)	Q619L	probably benign	Het
Kctd12	T	A	14: 103,218,901 (GRCm39)	R326W	probably damaging	Het
Kel	A	G	6: 41,666,472 (GRCm39)		probably null	Het
Lipk	A	T	19: 34,024,197 (GRCm39)	I332F	probably benign	Het
Lrrc37	T	A	11: 103,506,947 (GRCm39)		probably benign	Het
Masp2	A	G	4: 148,696,516 (GRCm39)	D371G	possibly damaging	Het
Met	A	G	6: 17,571,809 (GRCm39)	E1376G	probably benign	Het
Mup5	A	T	4: 61,752,015 (GRCm39)	I78K	probably benign	Het
Mynn	A	T	3: 30,670,790 (GRCm39)	D526V	probably damaging	Het
Naip6	G	T	13: 100,433,423 (GRCm39)	T1138N	possibly damaging	Het
Npepps	T	G	11: 97,139,085 (GRCm39)	R162S	probably damaging	Het
Ntrk3	T	A	7: 78,112,631 (GRCm39)	Q175L	probably damaging	Het
Obsl1	T	C	1: 75,480,032 (GRCm39)	T310A	probably damaging	Het
Or4g7	A	T	2: 111,309,425 (GRCm39)	T99S	probably benign	Het
Or8c9	A	T	9: 38,241,410 (GRCm39)	I176F	possibly damaging	Het
Or8j3c	A	T	2: 86,253,975 (GRCm39)	M15K	probably benign	Het
Or8k32	A	G	2: 86,368,731 (GRCm39)	I176T	probably damaging	Het
Pigf	G	A	17: 87,304,964 (GRCm39)	T193I	possibly damaging	Het
Pkp4	T	C	2: 59,172,525 (GRCm39)	V904A	possibly damaging	Het
Plekha6	C	T	1: 133,197,778 (GRCm39)	T141M	probably damaging	Het
Rapgef6	G	A	11: 54,582,308 (GRCm39)	D1407N	probably benign	Het
Rhobtb3	T	C	13: 76,087,741 (GRCm39)	D82G	probably damaging	Het
Rims1	T	C	1: 22,498,731 (GRCm39)	N767S	possibly damaging	Het
Ripor2	T	A	13: 24,849,451 (GRCm39)		probably benign	Het
Sec14l4	T	A	11: 3,993,948 (GRCm39)	I296N	probably damaging	Het
Serpinb12	G	T	1: 106,884,342 (GRCm39)	V363F	probably damaging	Het
Serpinb9c	A	G	13: 33,334,016 (GRCm39)	I342T	probably damaging	Het
Shmt2	A	G	10: 127,355,945 (GRCm39)	V133A	probably damaging	Het
Slc30a6	A	G	17: 74,722,661 (GRCm39)	M243V	probably benign	Het
Slfn2	T	A	11: 82,960,487 (GRCm39)	N155K	probably damaging	Het
Spata31h1	A	T	10: 82,152,298 (GRCm39)	L23M	possibly damaging	Het
Syne2	A	T	12: 75,900,898 (GRCm39)	D19V	possibly damaging	Het
Tcl1b3	A	T	12: 105,160,736 (GRCm39)	I116L	probably benign	Het
Tcp11	A	G	17: 28,286,766 (GRCm39)	I411T	probably damaging	Het
Tctn1	C	T	5: 122,379,859 (GRCm39)	A560T	probably benign	Het
Tenm3	C	A	8: 48,682,216 (GRCm39)	Q2471H	probably damaging	Het
Tnr	A	G	1: 159,713,645 (GRCm39)	D691G	probably benign	Het
Ube3b	C	T	5: 114,528,451 (GRCm39)	P150S	probably damaging	Het
Ugt2b5	T	C	5: 87,287,518 (GRCm39)	I216M	possibly damaging	Het
Unc5d	T	A	8: 29,156,877 (GRCm39)	R789S	probably damaging	Het
Ush2a	G	A	1: 188,147,875 (GRCm39)	G934D	probably damaging	Het
Usp6nl	A	T	2: 6,399,352 (GRCm39)	R70S	probably damaging	Het
Vmn1r181	T	C	7: 23,684,309 (GRCm39)	I258T	possibly damaging	Het
Vmn2r15	C	A	5: 109,445,302 (GRCm39)	D41Y	probably damaging	Het
Vmn2r17	T	A	5: 109,600,691 (GRCm39)	I663N	probably damaging	Het
Vnn3	C	A	10: 23,741,780 (GRCm39)	Q362K	possibly damaging	Het
Wdr72	A	G	9: 74,059,730 (GRCm39)	D380G	possibly damaging	Het
Wfdc10	G	A	2: 164,499,180 (GRCm39)	E97K	possibly damaging	Het
Xdh	A	T	17: 74,206,007 (GRCm39)	C1002*	probably null	Het
Zscan4e	A	C	7: 11,041,578 (GRCm39)	V126G	probably damaging	Het

Other mutations in Neurod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01558:Neurod1	APN	2	79,284,363 (GRCm39)	missense	possibly damaging	0.85
IGL01814:Neurod1	APN	2	79,285,003 (GRCm39)	missense	probably damaging	1.00
accelerando	UTSW	2	79,284,370 (GRCm39)	missense	probably benign	0.20
cruz	UTSW	2	79,284,939 (GRCm39)	missense	probably damaging	1.00
R0427:Neurod1	UTSW	2	79,284,526 (GRCm39)	missense	probably damaging	1.00
R1775:Neurod1	UTSW	2	79,284,781 (GRCm39)	missense	probably benign	0.10
R1795:Neurod1	UTSW	2	79,284,673 (GRCm39)	missense	probably benign	0.13
R3783:Neurod1	UTSW	2	79,284,939 (GRCm39)	missense	probably damaging	1.00
R3785:Neurod1	UTSW	2	79,284,939 (GRCm39)	missense	probably damaging	1.00
R3786:Neurod1	UTSW	2	79,284,939 (GRCm39)	missense	probably damaging	1.00
R3787:Neurod1	UTSW	2	79,284,939 (GRCm39)	missense	probably damaging	1.00
R4031:Neurod1	UTSW	2	79,284,370 (GRCm39)	missense	probably benign	0.20
R4978:Neurod1	UTSW	2	79,284,571 (GRCm39)	missense	probably damaging	1.00
R6163:Neurod1	UTSW	2	79,284,505 (GRCm39)	missense	probably benign	0.00
R7098:Neurod1	UTSW	2	79,285,029 (GRCm39)	missense	probably damaging	1.00
R7401:Neurod1	UTSW	2	79,285,290 (GRCm39)	missense	probably benign	0.14
R7576:Neurod1	UTSW	2	79,284,689 (GRCm39)	nonsense	probably null
R8726:Neurod1	UTSW	2	79,284,430 (GRCm39)	missense	possibly damaging	0.49
R9039:Neurod1	UTSW	2	79,284,720 (GRCm39)	missense	probably damaging	1.00
R9068:Neurod1	UTSW	2	79,285,218 (GRCm39)	missense	possibly damaging	0.83
R9225:Neurod1	UTSW	2	79,284,731 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAAACTCGGCGGATGGTTC -3'
(R):5'- AAAAGCCCTGATCTGGTCTC -3'

Sequencing Primer
(F):5'- CGTGTTTGAAAGAGAAGTTGCC -3'
(R):5'- GATCTGGTCTCCTTCGTACAGAC -3'

Posted On

2021-01-18