Mutagenetix > Incidental Mutation

Incidental Mutation 'R3787:Neurod1'

272292

Institutional Source

Beutler Lab

Gene Symbol

Neurod1

Ensembl Gene

ENSMUSG00000034701

Gene Name

neurogenic differentiation 1

Synonyms

Nd1, bHLHa3, Neurod, BETA2

MMRRC Submission

040754-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R3787 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79282981-79286980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79284939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 148 (N148I)

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: N148I

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

SMART Domains

Protein: ENSMUSP00000040364
Gene: ENSMUSG00000034701
AA Change: N148I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153602

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180703

Meta Mutation Damage Score

0.9036

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	T	5: 139,441,197 (GRCm39)	P35Q	probably damaging	Het
Aoc1	T	C	6: 48,882,589 (GRCm39)	L177P	probably damaging	Het
Aprt	T	C	8: 123,302,268 (GRCm39)	D65G	probably benign	Het
Auh	C	A	13: 53,083,493 (GRCm39)	R62L	possibly damaging	Het
Bmp4	C	T	14: 46,623,171 (GRCm39)		probably null	Het
Bptf	C	A	11: 106,964,653 (GRCm39)	D1514Y	probably damaging	Het
Carmil3	T	C	14: 55,734,433 (GRCm39)	F418S	probably damaging	Het
Ccdc112	C	T	18: 46,432,365 (GRCm39)	R72H	probably benign	Het
Ccdc138	T	C	10: 58,374,092 (GRCm39)	Y371H	probably damaging	Het
Chsy3	T	C	18: 59,542,070 (GRCm39)	Y403H	probably damaging	Het
Cul4a	T	C	8: 13,183,668 (GRCm39)	V352A	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dmxl1	G	A	18: 49,998,189 (GRCm39)	S763N	probably damaging	Het
Dmxl2	T	C	9: 54,277,162 (GRCm39)	D2893G	probably damaging	Het
Dnah8	A	G	17: 30,974,015 (GRCm39)	D2800G	probably damaging	Het
Dnaja2	C	T	8: 86,267,015 (GRCm39)	G281R	probably damaging	Het
Exo1	A	G	1: 175,727,035 (GRCm39)	T449A	probably benign	Het
Fancd2	T	G	6: 113,542,165 (GRCm39)	S770A	probably damaging	Het
Fmo1	A	T	1: 162,657,583 (GRCm39)	S519R	possibly damaging	Het
Fryl	T	C	5: 73,258,819 (GRCm39)	Y655C	probably benign	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Heatr1	G	T	13: 12,449,341 (GRCm39)	L1946F	probably damaging	Het
Inpp5k	T	C	11: 75,538,512 (GRCm39)	L461P	probably damaging	Het
Magi2	C	T	5: 20,670,907 (GRCm39)	T580M	probably damaging	Het
Mcm9	A	G	10: 53,492,076 (GRCm39)	V415A	possibly damaging	Het
Mki67	A	T	7: 135,302,012 (GRCm39)	N1007K	possibly damaging	Het
Mpped1	A	T	15: 83,680,784 (GRCm39)		probably benign	Het
Mtpap	T	C	18: 4,380,670 (GRCm39)	V116A	probably damaging	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Nfs1	A	G	2: 155,970,503 (GRCm39)	I270T	possibly damaging	Het
Nr1i3	A	G	1: 171,041,994 (GRCm39)	D26G	probably damaging	Het
Nsa2	G	T	13: 97,272,042 (GRCm39)	Q60K	possibly damaging	Het
Or13a28	G	A	7: 140,217,748 (GRCm39)	V45I	probably benign	Het
Or8g32	T	C	9: 39,305,678 (GRCm39)	V197A	probably benign	Het
Pde4dip	G	T	3: 97,622,868 (GRCm39)	P1447Q	possibly damaging	Het
Plxna2	A	G	1: 194,326,242 (GRCm39)	T59A	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r12c	G	A	7: 4,489,583 (GRCm39)	A193V	probably damaging	Het
Pramel48	T	A	5: 95,630,756 (GRCm39)	L211Q	probably damaging	Het
Prdm15	G	T	16: 97,598,945 (GRCm39)	H904Q	probably benign	Het
Rala	T	A	13: 18,057,031 (GRCm39)	E185V	probably benign	Het
Reep1	T	A	6: 71,772,199 (GRCm39)	D162E	probably damaging	Het
Rev3l	T	A	10: 39,722,206 (GRCm39)	L2528Q	probably damaging	Het
Rfc1	A	T	5: 65,453,357 (GRCm39)	S264T	probably benign	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Sipa1l2	C	T	8: 126,149,944 (GRCm39)	A1602T	probably benign	Het
Sipa1l2	C	A	8: 126,177,122 (GRCm39)	C1164F	possibly damaging	Het
Slc4a1ap	T	A	5: 31,685,483 (GRCm39)	L254I	possibly damaging	Het
Slc5a3	A	G	16: 91,874,816 (GRCm39)	N291S	possibly damaging	Het
Stab2	T	A	10: 86,805,141 (GRCm39)	D279V	possibly damaging	Het
Synrg	T	C	11: 83,892,746 (GRCm39)	F613S	probably damaging	Het
Tekt1	A	G	11: 72,235,720 (GRCm39)	I376T	probably damaging	Het
Thbs4	T	C	13: 92,909,672 (GRCm39)	N375S	probably benign	Het
Tro	G	A	X: 149,438,048 (GRCm39)	T203I	possibly damaging	Het
Txnl4b	C	T	8: 110,299,409 (GRCm39)	A123V	probably damaging	Het
Vmn1r63	T	A	7: 5,805,751 (GRCm39)	M294L	probably benign	Het
Vmn2r58	C	T	7: 41,513,498 (GRCm39)	D382N	probably benign	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	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
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
R9225:Neurod1	UTSW	2	79,284,731 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGCTTTCAAAGAAGGGCTC -3'
(R):5'- AGGACGAGCTTGAAGCCATG -3'

Sequencing Primer
(F):5'- CTTTCAAAGAAGGGCTCCAGAG -3'
(R):5'- CGAGCTTGAAGCCATGAATGC -3'

Posted On

2015-03-25