Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01883:Bhlha9'

179054

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bhlha9

Ensembl Gene

ENSMUSG00000044243

Gene Name

basic helix-loop-helix family, member a9

Synonyms

Fingerin, A830053O21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01883

Quality Score

Status

Chromosome

Chromosomal Location

76563296-76564502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76563924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 184 (S184P)

Ref Sequence

ENSEMBL: ENSMUSP00000050516 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056184]

AlphaFold

Q5RJB0

Predicted Effect

probably benign
Transcript: ENSMUST00000056184
AA Change: S184P

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000050516
Gene: ENSMUSG00000044243
AA Change: S184P

Domain	Start	End	E-Value	Type
low complexity region	7	13	N/A	INTRINSIC
low complexity region	44	49	N/A	INTRINSIC
HLH	67	119	3.66e-8	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit variable asymmetrical syndactyly and interdigital webbing due to reduced interdigital apoptosis and incomplete separation of soft, but not skeletal, tissues between forelimb digits 2 and 3. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox3	C	A	1: 58,177,442 (GRCm39)	P219Q	probably damaging	Het
Arl2	A	G	19: 6,187,521 (GRCm39)	L109P	probably damaging	Het
C2cd3	G	A	7: 100,023,693 (GRCm39)	R93H	possibly damaging	Het
Cdcp1	A	G	9: 123,012,663 (GRCm39)	F295L	probably benign	Het
Cpsf7	A	T	19: 10,503,387 (GRCm39)	D6V	possibly damaging	Het
Fbxw28	A	T	9: 109,157,393 (GRCm39)	V285E	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm18025	T	A	12: 34,340,692 (GRCm39)	I134F	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Kif11	A	C	19: 37,372,791 (GRCm39)	T60P	probably benign	Het
Myo7b	T	C	18: 32,131,204 (GRCm39)	D521G	probably damaging	Het
Polg	A	G	7: 79,108,066 (GRCm39)	L583P	probably damaging	Het
Ppp6r1	A	T	7: 4,642,986 (GRCm39)		probably null	Het
Rmc1	G	A	18: 12,311,296 (GRCm39)	V125I	probably benign	Het
Snap91	A	T	9: 86,657,665 (GRCm39)	W509R	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Tmem79	T	C	3: 88,237,145 (GRCm39)	N353D	probably damaging	Het

Other mutations in Bhlha9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02998:Bhlha9	APN	11	76,563,570 (GRCm39)	missense	probably damaging	1.00
R1537:Bhlha9	UTSW	11	76,563,457 (GRCm39)	missense	probably benign
R2908:Bhlha9	UTSW	11	76,563,433 (GRCm39)	missense	probably benign	0.00
R5576:Bhlha9	UTSW	11	76,563,595 (GRCm39)	missense	probably damaging	1.00
R7284:Bhlha9	UTSW	11	76,563,492 (GRCm39)	missense	probably benign	0.04
R7728:Bhlha9	UTSW	11	76,563,915 (GRCm39)	missense	possibly damaging	0.49
R8220:Bhlha9	UTSW	11	76,563,703 (GRCm39)	missense	probably damaging	1.00
R9411:Bhlha9	UTSW	11	76,564,018 (GRCm39)	missense	probably benign
V1662:Bhlha9	UTSW	11	76,563,862 (GRCm39)	missense	probably benign	0.30

Posted On

2014-05-07