Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Neurod1'

574145

Institutional Source

Beutler Lab

Gene Symbol

Neurod1

Ensembl Gene

ENSMUSG00000034701

Gene Name

neurogenic differentiation 1

Synonyms

Nd1, bHLHa3, Neurod, BETA2

MMRRC Submission

045483-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79282981-79286980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79285290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 31 (D31V)

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 benign
Transcript: ENSMUST00000041099
AA Change: D31V

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000040364
Gene: ENSMUSG00000034701
AA Change: D31V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 16,936,268 (GRCm39)	L152Q	probably benign	Het
Abcg3	A	T	5: 105,114,640 (GRCm39)	N292K	probably damaging	Het
Adamts3	T	A	5: 89,855,309 (GRCm39)		probably null	Het
Adgrg7	T	C	16: 56,562,781 (GRCm39)	N519D	probably benign	Het
Adsl	A	G	15: 80,846,983 (GRCm39)	H263R	probably damaging	Het
Ak9	A	T	10: 41,299,000 (GRCm39)	D1567V	unknown	Het
Bscl2	T	C	19: 8,823,914 (GRCm39)	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,569,306 (GRCm39)	T873S	probably benign	Het
Cacna1c	T	C	6: 119,029,669 (GRCm39)		probably null	Het
Cast	G	T	13: 74,956,577 (GRCm39)	A18E	unknown	Het
Cd207	A	C	6: 83,654,830 (GRCm39)		probably benign	Het
Cd79b	A	G	11: 106,203,678 (GRCm39)	S130P	probably benign	Het
Cfap52	A	T	11: 67,840,459 (GRCm39)	N157K	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Chaf1b	G	T	16: 93,681,268 (GRCm39)		probably benign	Het
Cntn1	A	G	15: 92,215,870 (GRCm39)	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,466 (GRCm39)	V362I	probably benign	Het
Crem	A	G	18: 3,295,329 (GRCm39)	S80P	probably damaging	Het
Csnk1g3	C	T	18: 54,063,390 (GRCm39)	T267I	probably damaging	Het
Cyth1	A	T	11: 118,073,077 (GRCm39)	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,678,537 (GRCm39)	G594S	probably benign	Het
Enpp1	C	T	10: 24,521,180 (GRCm39)	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,622,979 (GRCm39)	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,759,479 (GRCm39)	V426L	probably benign	Het
Fes	A	G	7: 80,028,524 (GRCm39)		probably null	Het
Gmeb1	C	A	4: 131,953,085 (GRCm39)	L560F	probably damaging	Het
Hace1	T	C	10: 45,546,722 (GRCm39)	L452P	probably damaging	Het
Hecw2	T	A	1: 53,943,502 (GRCm39)	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il1r2	T	A	1: 40,162,370 (GRCm39)	C338S	probably damaging	Het
Iqcn	T	C	8: 71,169,921 (GRCm39)	I1337T	probably benign	Het
Kcnb1	T	C	2: 167,030,204 (GRCm39)	S114G	probably damaging	Het
Lce1c	A	T	3: 92,587,623 (GRCm39)	T17S	unknown	Het
Lhfpl4	C	A	6: 113,153,627 (GRCm39)	L141F	possibly damaging	Het
Ms4a14	T	C	19: 11,279,594 (GRCm39)	E988G	possibly damaging	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Neurod4	A	G	10: 130,106,927 (GRCm39)	C116R	probably damaging	Het
Nisch	A	G	14: 30,928,537 (GRCm39)	V28A	probably benign	Het
Odad1	A	C	7: 45,592,189 (GRCm39)	Q323P	probably damaging	Het
Or4a72	A	G	2: 89,405,449 (GRCm39)	V207A	probably benign	Het
Or5d44	T	G	2: 88,141,772 (GRCm39)	M123L	probably benign	Het
Pabpc4l	T	A	3: 46,401,024 (GRCm39)	R207W	probably damaging	Het
Pabpc4l	A	T	3: 46,400,687 (GRCm39)	I319N	probably damaging	Het
Pcm1	G	A	8: 41,762,568 (GRCm39)	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452 (GRCm39)		probably benign	Het
Plxnc1	C	T	10: 94,706,867 (GRCm39)	A557T	probably benign	Het
Prkdc	T	A	16: 15,466,602 (GRCm39)	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,046,959 (GRCm39)	V259A	probably benign	Het
Psmd3	A	T	11: 98,576,466 (GRCm39)	T123S	probably benign	Het
Ptgr2	G	T	12: 84,339,103 (GRCm39)		probably benign	Het
Ptprr	A	G	10: 115,884,141 (GRCm39)	H66R	probably benign	Het
Rftn2	A	G	1: 55,233,401 (GRCm39)		probably null	Het
Rsph14	T	A	10: 74,865,628 (GRCm39)	E70V	possibly damaging	Het
Slc24a5	G	A	2: 124,930,111 (GRCm39)	V471I	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spag9	A	T	11: 93,988,515 (GRCm39)	T862S	probably benign	Het
Ssbp2	T	A	13: 91,839,002 (GRCm39)	D291E	probably benign	Het
Supt5	T	C	7: 28,023,197 (GRCm39)	K329E	probably damaging	Het
Syne2	G	T	12: 76,014,155 (GRCm39)	K3115N	probably damaging	Het
Tars1	A	T	15: 11,392,095 (GRCm39)	L239*	probably null	Het
Tbxa2r	T	C	10: 81,168,625 (GRCm39)	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743 (GRCm39)	D265E	probably damaging	Het
Tril	T	C	6: 53,795,266 (GRCm39)	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,873,268 (GRCm39)	R204G	probably null	Het
Twnk	A	G	19: 45,000,219 (GRCm39)	D645G	probably benign	Het
Umodl1	A	T	17: 31,217,122 (GRCm39)	D1118V	probably damaging	Het
Unc119	T	C	11: 78,238,071 (GRCm39)	I83T	probably benign	Het
Unc80	T	C	1: 66,685,574 (GRCm39)	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,910,416 (GRCm39)	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,790,067 (GRCm39)	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,728,806 (GRCm39)	L123S	probably damaging	Het
Zfpm2	A	G	15: 40,966,386 (GRCm39)	E957G	possibly 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
R7576:Neurod1	UTSW	2	79,284,689 (GRCm39)	nonsense	probably null
R8465:Neurod1	UTSW	2	79,284,696 (GRCm39)	missense	probably damaging	1.00
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'- TTTAAAACGTTCTAGGCGCGC -3'
(R):5'- GCAGTGGACTCCTGTGTATTTC -3'

Sequencing Primer
(F):5'- TTCTAGGCGCGCCTTGGTC -3'
(R):5'- GCTTATCCAGCTTTTAAATATAGCGG -3'

Posted On

2019-09-13