Mutagenetix > Incidental Mutations

Incidental Mutation 'R3783:Neurod1'

272108

Institutional Source

Beutler Lab

Gene Symbol

Neurod1

Ensembl Gene

ENSMUSG00000034701

Gene Name

neurogenic differentiation 1

Synonyms

bHLHa3, BETA2, Neurod

MMRRC Submission

040875-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R3783 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79452521-79456751 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79454595 bp

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]

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: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (45/46)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Akap6	A	G	12: 52,880,769	H154R	probably damaging	Het
Aoc1	T	C	6: 48,905,655	L177P	probably damaging	Het
Ascc3	A	G	10: 50,728,254	T1357A	probably damaging	Het
Atp13a3	A	T	16: 30,354,249	V270D	probably damaging	Het
BC055324	A	T	1: 163,987,683	C90S	probably benign	Het
Carmil3	T	C	14: 55,496,976	F418S	probably damaging	Het
Ccdc93	A	G	1: 121,437,869	N77S	probably damaging	Het
Cpt1b	T	C	15: 89,425,189	K47R	probably damaging	Het
Cyp4f14	A	G	17: 32,916,762	Y42H	probably benign	Het
Dmxl1	G	A	18: 49,865,122	S763N	probably damaging	Het
Fam129a	C	T	1: 151,689,648	S243L	possibly damaging	Het
Fancd2	T	G	6: 113,565,204	S770A	probably damaging	Het
Flnb	T	G	14: 7,889,236	W529G	probably benign	Het
Fryl	T	C	5: 73,101,476	Y655C	probably benign	Het
Gml	C	T	15: 74,813,672	V155M	probably damaging	Het
Gpr174	A	G	X: 107,293,064	T161A	probably benign	Het
Heatr1	G	T	13: 12,434,460	L1946F	probably damaging	Het
Inpp5k	T	C	11: 75,647,686	L461P	probably damaging	Het
Isy1	T	C	6: 87,821,545	E209G	possibly damaging	Het
Kdm5b	A	G	1: 134,630,542	H1429R	probably benign	Het
Magi2	C	T	5: 20,465,909	T580M	probably damaging	Het
Map3k1	C	T	13: 111,756,220	V834I	probably benign	Het
Mdn1	A	T	4: 32,720,818	E2310D	probably benign	Het
Myo15	A	T	11: 60,477,572	Y386F	probably damaging	Het
Nsa2	G	T	13: 97,135,534	Q60K	possibly damaging	Het
Pcdha1	T	A	18: 36,930,802	L173Q	probably damaging	Het
Pdpk1	T	C	17: 24,110,850	T71A	possibly damaging	Het
Plxna2	T	A	1: 194,807,521	V1692E	probably damaging	Het
Pmepa1	G	A	2: 173,228,133	R210W	probably damaging	Het
Psg27	T	A	7: 18,560,354	Q376L	probably damaging	Het
Psmd4	T	C	3: 95,035,251	D6G	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rala	T	A	13: 17,882,446	E185V	probably benign	Het
Sall4	A	G	2: 168,756,123	S266P	probably damaging	Het
Scn10a	T	C	9: 119,691,562	T91A	probably damaging	Het
Synrg	T	C	11: 84,001,920	F613S	probably damaging	Het
Tekt1	A	G	11: 72,344,894	I376T	probably damaging	Het
Tet2	T	C	3: 133,479,363	K1182R	possibly damaging	Het
Thbs4	T	C	13: 92,773,164	N375S	probably benign	Het
Thoc5	A	G	11: 4,920,372		probably benign	Het
Tmprss9	G	T	10: 80,887,467	V254F	probably damaging	Het
Tro	G	A	X: 150,655,052	T203I	possibly damaging	Het
Ttbk2	A	T	2: 120,773,815		probably benign	Het
Usf2	A	G	7: 30,955,831	V133A	probably benign	Het
Wap	G	A	11: 6,638,550	Q25*	probably null	Het
Xdh	C	T	17: 73,893,595		probably benign	Het
Xrn1	G	T	9: 95,969,285	M153I	probably benign	Het

Other mutations in Neurod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01558:Neurod1	APN	2	79454019	missense	possibly damaging	0.85
IGL01814:Neurod1	APN	2	79454659	missense	probably damaging	1.00
accelerando	UTSW	2	79454026	missense	probably benign	0.20
cruz	UTSW	2	79454595	missense	probably damaging	1.00
R0427:Neurod1	UTSW	2	79454182	missense	probably damaging	1.00
R1775:Neurod1	UTSW	2	79454437	missense	probably benign	0.10
R1795:Neurod1	UTSW	2	79454329	missense	probably benign	0.13
R3785:Neurod1	UTSW	2	79454595	missense	probably damaging	1.00
R3786:Neurod1	UTSW	2	79454595	missense	probably damaging	1.00
R3787:Neurod1	UTSW	2	79454595	missense	probably damaging	1.00
R4031:Neurod1	UTSW	2	79454026	missense	probably benign	0.20
R4978:Neurod1	UTSW	2	79454227	missense	probably damaging	1.00
R6163:Neurod1	UTSW	2	79454161	missense	probably benign	0.00
R7098:Neurod1	UTSW	2	79454685	missense	probably damaging	1.00
R7401:Neurod1	UTSW	2	79454946	missense	probably benign	0.14
R7576:Neurod1	UTSW	2	79454345	nonsense	probably null
R8465:Neurod1	UTSW	2	79454352	missense	probably damaging	1.00
R8726:Neurod1	UTSW	2	79454086	missense	possibly damaging	0.49

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