Mutagenetix > Incidental Mutation

Incidental Mutation 'R9225:Neurod1'

699751

Institutional Source

Beutler Lab

Gene Symbol

Neurod1

Ensembl Gene

ENSMUSG00000034701

Gene Name

neurogenic differentiation 1

Synonyms

Nd1, bHLHa3, Neurod, BETA2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R9225 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79282981-79286980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79284731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 217 (H217Q)

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: H217Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000040364
Gene: ENSMUSG00000034701
AA Change: H217Q

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: 99.8%
20x: 99.3%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	T	5: 88,120,433 (GRCm39)	V397L	probably benign	Het
Adam26b	G	T	8: 43,973,453 (GRCm39)	Y516*	probably null	Het
Afap1	A	G	5: 36,133,968 (GRCm39)	K468E	possibly damaging	Het
Ank2	A	G	3: 126,736,111 (GRCm39)	S3258P	unknown	Het
Ap1g1	A	G	8: 110,585,509 (GRCm39)	K783E	probably benign	Het
Apbb1	A	G	7: 105,218,063 (GRCm39)	S20P		Het
Atg13	T	C	2: 91,519,128 (GRCm39)		probably null	Het
Atg16l2	A	G	7: 100,951,188 (GRCm39)	V16A	probably benign	Het
Atp11a	G	A	8: 12,867,005 (GRCm39)	R144Q	probably benign	Het
Avpr1a	A	T	10: 122,285,466 (GRCm39)	T253S	probably benign	Het
B4galnt3	T	C	6: 120,195,928 (GRCm39)	T300A	probably damaging	Het
Bag4	A	G	8: 26,261,270 (GRCm39)	V157A	probably benign	Het
Brsk2	A	G	7: 141,547,039 (GRCm39)	H494R	probably damaging	Het
Cacna2d2	G	A	9: 107,403,403 (GRCm39)	G955S	probably benign	Het
Ccdc42	A	T	11: 68,479,061 (GRCm39)	E83V	probably damaging	Het
Cep120	T	C	18: 53,839,896 (GRCm39)	Q788R	probably benign	Het
Cnbd1	A	G	4: 18,907,010 (GRCm39)	I188T	probably benign	Het
Col6a6	C	T	9: 105,659,437 (GRCm39)	E503K	possibly damaging	Het
Cpt1c	A	T	7: 44,610,213 (GRCm39)	L661H	probably damaging	Het
Cyp2a22	T	C	7: 26,637,202 (GRCm39)	D194G	possibly damaging	Het
Cyp2c70	C	A	19: 40,168,912 (GRCm39)	R125L	probably damaging	Het
Cyp3a41a	A	T	5: 145,650,414 (GRCm39)	D76E	probably benign	Het
Cyp4f13	A	T	17: 33,144,319 (GRCm39)	I458N	probably damaging	Het
Cyp4f13	T	C	17: 33,148,175 (GRCm39)	Q350R	probably damaging	Het
Ddx60	G	A	8: 62,470,875 (GRCm39)	V1456I	probably benign	Het
Dgkh	T	C	14: 78,962,507 (GRCm39)	H8R	probably damaging	Het
Diaph3	A	G	14: 87,244,760 (GRCm39)		probably null	Het
Dnah8	A	C	17: 30,854,647 (GRCm39)	D103A	probably benign	Het
Dock4	G	A	12: 40,879,669 (GRCm39)	R1551Q	probably benign	Het
Eps8	A	T	6: 137,507,561 (GRCm39)	S56T	probably benign	Het
Fam171b	T	A	2: 83,710,386 (GRCm39)	L686Q	probably damaging	Het
Fndc3b	A	C	3: 27,510,680 (GRCm39)	L814*	probably null	Het
Gcnt2	T	A	13: 41,014,336 (GRCm39)	L169Q	probably damaging	Het
Gm21103	T	A	14: 17,484,877 (GRCm39)	I56F	possibly damaging	Het
Gpc1	A	T	1: 92,783,742 (GRCm39)	K276N	probably damaging	Het
Hivep1	T	A	13: 42,337,184 (GRCm39)	V2421D	probably damaging	Het
Hoxb1	T	C	11: 96,257,119 (GRCm39)	L156P	probably benign	Het
Ifi208	A	G	1: 173,518,294 (GRCm39)	D467G	possibly damaging	Het
Klhl22	A	G	16: 17,594,617 (GRCm39)	M249V	probably damaging	Het
Kmt2b	A	G	7: 30,286,172 (GRCm39)	V240A	unknown	Het
Lacc1	A	T	14: 77,272,414 (GRCm39)	Y127*	probably null	Het
Lgr4	C	A	2: 109,842,485 (GRCm39)	H823Q	probably benign	Het
Llgl1	T	C	11: 60,600,889 (GRCm39)	S662P	probably damaging	Het
Lrrc1	G	A	9: 77,359,955 (GRCm39)	T279I	probably benign	Het
Lrrc8e	T	A	8: 4,284,561 (GRCm39)	V262E	probably damaging	Het
Magi1	G	T	6: 93,762,511 (GRCm39)	P292T	possibly damaging	Het
Mccc1	T	A	3: 36,018,511 (GRCm39)	I608F	probably benign	Het
Mroh8	T	A	2: 157,107,010 (GRCm39)	I220L	probably damaging	Het
Mtcl3	A	T	10: 29,072,327 (GRCm39)	K540*	probably null	Het
Mycn	C	A	12: 12,987,609 (GRCm39)	D263Y	probably damaging	Het
Myrip	A	G	9: 120,293,850 (GRCm39)	K782E	probably damaging	Het
Ncoa6	T	A	2: 155,249,441 (GRCm39)	I1288F	possibly damaging	Het
Nebl	A	G	2: 17,405,322 (GRCm39)	I399T	possibly damaging	Het
Nlrp5	T	C	7: 23,117,371 (GRCm39)	V365A	probably benign	Het
Or1e1	C	A	11: 73,244,595 (GRCm39)	N5K	probably damaging	Het
Or2ag12	A	G	7: 106,276,976 (GRCm39)	V239A	probably benign	Het
Or5b100-ps1	A	G	19: 12,994,370 (GRCm39)	*261W	probably null	Het
Or5b100-ps1	G	C	19: 12,994,371 (GRCm39)	*261Y	probably null	Het
Otud7a	A	G	7: 63,407,469 (GRCm39)	T591A	possibly damaging	Het
Pbx3	T	C	2: 34,260,938 (GRCm39)		probably benign	Het
Pcdhb4	A	T	18: 37,441,695 (GRCm39)	Q335L	possibly damaging	Het
Plxnc1	C	A	10: 94,629,061 (GRCm39)	C1571F	probably damaging	Het
Pola2	G	A	19: 6,000,492 (GRCm39)	P330S	probably benign	Het
Ppm1l	A	T	3: 69,460,244 (GRCm39)	N274Y	probably benign	Het
Ppp4r3b	A	G	11: 29,155,648 (GRCm39)	D538G	possibly damaging	Het
Ptx4	C	T	17: 25,341,696 (GRCm39)	T57I	probably benign	Het
Rchy1	A	T	5: 92,105,396 (GRCm39)	C108*	probably null	Het
Rif1	A	G	2: 52,001,862 (GRCm39)	E130G	probably benign	Het
Rmdn1	A	T	4: 19,601,385 (GRCm39)	Y219F	probably damaging	Het
Rnf144a	A	G	12: 26,377,606 (GRCm39)	C46R	probably damaging	Het
Rpl13a	C	A	7: 44,775,627 (GRCm39)	G146V	probably damaging	Het
Rpl13a	C	A	7: 44,775,628 (GRCm39)	G146W	probably damaging	Het
Rtn3	A	T	19: 7,434,854 (GRCm39)	N379K	probably damaging	Het
Sdc1	G	T	12: 8,821,817 (GRCm39)	R19L	unknown	Het
Shank1	A	G	7: 43,983,470 (GRCm39)	I651V	unknown	Het
Slamf6	T	C	1: 171,764,270 (GRCm39)	V221A	probably benign	Het
Sp9	C	A	2: 73,103,839 (GRCm39)	S131*	probably null	Het
Spen	T	C	4: 141,202,943 (GRCm39)	T1895A	possibly damaging	Het
Taf6l	CGCAGCCGCACCTG	CG	19: 8,751,688 (GRCm39)		probably benign	Het
Thada	G	T	17: 84,749,172 (GRCm39)	H600N	possibly damaging	Het
Trmt11	G	T	10: 30,423,753 (GRCm39)	P384Q	probably damaging	Het
Tsnaxip1	T	C	8: 106,566,659 (GRCm39)	L165P	probably damaging	Het
Ttc7	A	G	17: 87,637,502 (GRCm39)	Y419C	probably damaging	Het
Ugt1a6a	T	C	1: 88,066,560 (GRCm39)	F122S	probably benign	Het
Vmn1r218	G	A	13: 23,320,824 (GRCm39)	C57Y	probably benign	Het
Vmn2r14	T	C	5: 109,369,288 (GRCm39)	N95S	probably damaging	Het
Vmn2r2	G	T	3: 64,034,021 (GRCm39)	H500Q	probably benign	Het
Vmn2r70	T	A	7: 85,208,242 (GRCm39)	Y745F	probably damaging	Het
Zfp189	C	T	4: 49,530,193 (GRCm39)	S432F	probably benign	Het
Zscan2	C	T	7: 80,513,021 (GRCm39)	A2V	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
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

Predicted Primers

PCR Primer
(F):5'- TTGCCATTGATGCTGAGCGG -3'
(R):5'- CTACATCTGGGCTCTGTCAG -3'

Sequencing Primer
(F):5'- TTCAAAGAAGGGCTCCAG -3'
(R):5'- TGTCAGAGATCCTGCGCTCAG -3'

Posted On

2022-02-07