Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00572:Helt'

5039

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Helt

Ensembl Gene

ENSMUSG00000047171

Gene Name

helt bHLH transcription factor

Synonyms

megane, Heslike

Accession Numbers

Essential gene?

Probably essential (E-score: 0.888) question?

Stock #

IGL00572

Quality Score

Status

Chromosome

Chromosomal Location

46745076-46747708 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46746559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 32 (E32G)

Ref Sequence

ENSEMBL: ENSMUSP00000054823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058636] [ENSMUST00000210652]

AlphaFold

Q7TS99

Predicted Effect

probably damaging
Transcript: ENSMUST00000058636
AA Change: E32G

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

SMART Domains

Protein: ENSMUSP00000054823
Gene: ENSMUSG00000047171
AA Change: E32G

Domain	Start	End	E-Value	Type
HLH	16	71	2.05e-11	SMART
Pfam:Hairy_orange	85	126	1.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210696

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele show loss of GABAergic neurons in the superior colliculus, limb cramping, seizures, impaired suckling, reduced growth and death between 2 and 5 wks of age. Mice homozygous for a reporter allele show loss of GABAergic neurons and increased glutamatergic generation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	G	17: 56,127,648 (GRCm39)	I563V	probably benign	Het
Adgrl2	A	G	3: 148,532,134 (GRCm39)	L1033P	probably damaging	Het
Aqr	A	C	2: 113,956,423 (GRCm39)	I840M	possibly damaging	Het
Bmper	G	A	9: 23,317,823 (GRCm39)	V481M	probably damaging	Het
Chd8	T	C	14: 52,463,595 (GRCm39)	E683G	probably damaging	Het
Cpn1	A	G	19: 43,952,268 (GRCm39)	V338A	probably damaging	Het
Cs	A	G	10: 128,196,833 (GRCm39)		probably benign	Het
Gm4540	C	T	3: 105,942,123 (GRCm39)		probably benign	Het
Hdc	A	G	2: 126,443,792 (GRCm39)	F296L	probably benign	Het
Hivep1	C	T	13: 42,312,347 (GRCm39)	A1529V	probably benign	Het
Klk1b4	A	T	7: 43,860,198 (GRCm39)	H104L	possibly damaging	Het
Lrrc37	A	G	11: 103,506,236 (GRCm39)	F1911L	probably benign	Het
Ncf2	C	A	1: 152,683,925 (GRCm39)	T48N	possibly damaging	Het
Phkg1	G	A	5: 129,893,914 (GRCm39)	Q274*	probably null	Het
Slc1a2	A	G	2: 102,607,921 (GRCm39)	D520G	possibly damaging	Het
Slc25a10	G	T	11: 120,387,933 (GRCm39)		probably null	Het
Slc8a1	A	T	17: 81,696,155 (GRCm39)	S960T	probably damaging	Het
Sp140	G	A	1: 85,549,393 (GRCm39)	R208K	probably benign	Het
St7	A	G	6: 17,855,005 (GRCm39)	E245G	probably damaging	Het
Sypl1	T	A	12: 33,004,293 (GRCm39)	S2T	probably damaging	Het
Tbx20	T	C	9: 24,636,984 (GRCm39)	T368A	probably benign	Het
Tmem126a	T	C	7: 90,100,040 (GRCm39)	T168A	probably benign	Het
Ttn	T	C	2: 76,576,934 (GRCm39)	D24653G	probably damaging	Het
Ttn	A	G	2: 76,777,323 (GRCm39)	S1360P	probably damaging	Het
Uggt2	A	T	14: 119,280,203 (GRCm39)	F282L	probably benign	Het
Usp36	A	T	11: 118,155,646 (GRCm39)	N875K	possibly damaging	Het
Usp9x	C	A	X: 12,991,815 (GRCm39)	H869N	probably benign	Het
Xpnpep1	T	C	19: 52,998,579 (GRCm39)	E223G	probably benign	Het
Zfp729a	G	A	13: 67,767,440 (GRCm39)	P930S	probably benign	Het
Zscan10	G	A	17: 23,828,435 (GRCm39)	V216M	probably damaging	Het

Other mutations in Helt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02586:Helt	APN	8	46,746,276 (GRCm39)	missense	probably damaging	1.00
IGL02884:Helt	APN	8	46,745,620 (GRCm39)	missense	probably damaging	1.00
R0042:Helt	UTSW	8	46,745,433 (GRCm39)	missense	probably damaging	1.00
R2013:Helt	UTSW	8	46,745,355 (GRCm39)	missense	probably damaging	1.00
R2339:Helt	UTSW	8	46,745,709 (GRCm39)	missense	probably damaging	0.99
R3862:Helt	UTSW	8	46,745,315 (GRCm39)	missense	probably benign	0.19
R5265:Helt	UTSW	8	46,745,470 (GRCm39)	missense	probably damaging	0.98
R6464:Helt	UTSW	8	46,745,571 (GRCm39)	missense	probably damaging	1.00
R7563:Helt	UTSW	8	46,746,630 (GRCm39)	start gained	probably benign
R8260:Helt	UTSW	8	46,745,745 (GRCm39)	missense	possibly damaging	0.82
R9237:Helt	UTSW	8	46,745,536 (GRCm39)	missense	probably benign

Posted On

2012-04-20