Mutagenetix > Incidental Mutation

Incidental Mutation 'R7728:Bhlha9'

595647

Institutional Source

Beutler Lab

Gene Symbol

Bhlha9

Ensembl Gene

ENSMUSG00000044243

Gene Name

basic helix-loop-helix family, member a9

Synonyms

Fingerin, A830053O21Rik

MMRRC Submission

045784-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7728 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76563296-76564502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76563915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 181 (S181T)

Ref Sequence

ENSEMBL: ENSMUSP00000050516 (fasta)

Gene Model

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

AlphaFold

Q5RJB0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056184
AA Change: S181T

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050516
Gene: ENSMUSG00000044243
AA Change: S181T

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,163,822 (GRCm39)	P851S	probably damaging	Het
2210408I21Rik	T	A	13: 77,464,596 (GRCm39)	L931Q	possibly damaging	Het
Abcg3	T	G	5: 105,083,944 (GRCm39)	I609L	probably benign	Het
Acly	A	T	11: 100,407,623 (GRCm39)	F242L	probably damaging	Het
Acly	C	T	11: 100,410,513 (GRCm39)	G155D	probably benign	Het
Acsl5	T	A	19: 55,276,285 (GRCm39)	L370*	probably null	Het
Arhgef17	G	A	7: 100,579,275 (GRCm39)	P558S	probably benign	Het
Birc6	A	G	17: 74,929,100 (GRCm39)	T2331A	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc7b	A	T	8: 129,799,171 (GRCm39)	R83W	unknown	Het
Churc1	T	A	12: 76,820,052 (GRCm39)	N20K	probably benign	Het
Clec9a	T	C	6: 129,392,198 (GRCm39)	S63P	possibly damaging	Het
Cndp2	T	A	18: 84,690,202 (GRCm39)	M247L	probably benign	Het
Cpvl	C	T	6: 53,902,275 (GRCm39)	S329N	probably benign	Het
Cracd	T	C	5: 77,005,316 (GRCm39)	V559A	unknown	Het
Csmd1	A	T	8: 16,281,285 (GRCm39)	W747R	probably damaging	Het
Dhx40	A	T	11: 86,662,759 (GRCm39)	D644E	probably damaging	Het
Disp2	A	T	2: 118,621,961 (GRCm39)	N898Y	probably benign	Het
Dnah3	G	A	7: 119,538,051 (GRCm39)	H666Y	probably damaging	Het
Dnajc2	C	T	5: 21,975,538 (GRCm39)	D222N	possibly damaging	Het
Epha5	A	T	5: 84,215,267 (GRCm39)	M826K	possibly damaging	Het
Fam13a	T	C	6: 58,931,284 (GRCm39)	D432G	possibly damaging	Het
Fkbp6	A	G	5: 135,368,398 (GRCm39)	L276P	probably damaging	Het
Gars1	G	T	6: 55,027,371 (GRCm39)	W155L	probably damaging	Het
Gm12258	C	A	11: 58,750,518 (GRCm39)	H564Q	unknown	Het
Gm3127	A	G	14: 15,425,832 (GRCm39)	D79G	possibly damaging	Het
H2-Q10	T	A	17: 35,781,735 (GRCm39)	I119N	probably damaging	Het
Harbi1	A	G	2: 91,542,626 (GRCm39)	D29G	possibly damaging	Het
Hp1bp3	T	A	4: 137,953,307 (GRCm39)	M155K	probably damaging	Het
Itpr3	T	G	17: 27,317,088 (GRCm39)	M781R	probably damaging	Het
Kat7	T	C	11: 95,190,907 (GRCm39)	K101E	probably benign	Het
Kif7	A	G	7: 79,360,478 (GRCm39)	I299T	possibly damaging	Het
Krt34	A	G	11: 99,930,811 (GRCm39)		probably null	Het
Krt81	A	G	15: 101,358,087 (GRCm39)	Y389H	probably damaging	Het
Lrrc36	A	T	8: 106,176,130 (GRCm39)	E168V	probably benign	Het
Lrrk1	A	G	7: 65,912,463 (GRCm39)	V1699A	probably benign	Het
Mdh1b	T	A	1: 63,754,429 (GRCm39)	S380C	probably benign	Het
Mlkl	A	G	8: 112,060,251 (GRCm39)	L45P	probably damaging	Het
Mmp13	T	A	9: 7,274,004 (GRCm39)	D159E	probably benign	Het
Nanp	A	G	2: 150,872,835 (GRCm39)	V31A	possibly damaging	Het
Nbeal1	T	C	1: 60,283,983 (GRCm39)	S846P	probably damaging	Het
Neb	G	A	2: 52,073,311 (GRCm39)	R5982C	probably damaging	Het
Nebl	G	T	2: 17,375,325 (GRCm39)	F93L		Het
Or11h6	G	A	14: 50,879,849 (GRCm39)	G31E	probably benign	Het
Pcdhb11	A	T	18: 37,556,530 (GRCm39)	N620I	probably damaging	Het
Pcdhgb2	A	G	18: 37,824,260 (GRCm39)	Y417C	probably damaging	Het
Pwp2	T	C	10: 78,014,395 (GRCm39)	T402A	probably benign	Het
Ralgapb	T	C	2: 158,324,423 (GRCm39)		probably null	Het
Rexo4	G	A	2: 26,854,242 (GRCm39)	A30V	probably benign	Het
Rrs1	T	A	1: 9,616,623 (GRCm39)	M292K	possibly damaging	Het
Shroom3	C	A	5: 92,831,566 (GRCm39)	P14Q	possibly damaging	Het
Slc16a10	T	A	10: 39,916,754 (GRCm39)	I383F	probably damaging	Het
Slco1a8	C	A	6: 141,933,436 (GRCm39)	E470*	probably null	Het
Slk	C	A	19: 47,609,255 (GRCm39)	P736Q	probably damaging	Het
St6galnac2	T	A	11: 116,570,811 (GRCm39)	H259L	probably benign	Het
Stambpl1	T	G	19: 34,213,721 (GRCm39)	S317A	possibly damaging	Het
Syvn1	A	G	19: 6,101,235 (GRCm39)	T429A	unknown	Het
Tbc1d9	A	T	8: 83,985,979 (GRCm39)	E828V	probably damaging	Het
Tmtc2	A	C	10: 105,107,358 (GRCm39)		probably null	Het
Trmt11	A	G	10: 30,463,497 (GRCm39)	I206T	possibly damaging	Het
Trp53bp1	A	C	2: 121,038,380 (GRCm39)	L1436R	probably damaging	Het
Ttll5	C	T	12: 86,003,406 (GRCm39)	R1095W	probably benign	Het
Utp20	A	G	10: 88,634,203 (GRCm39)	F831S	probably damaging	Het
Vmn2r109	T	A	17: 20,773,117 (GRCm39)	Q501H	probably damaging	Het
Zcchc17	A	G	4: 130,230,812 (GRCm39)		probably null	Het
Zfhx3	A	G	8: 109,678,201 (GRCm39)	M3084V	probably benign	Het
Zfp81	T	C	17: 33,555,791 (GRCm39)	N12S	possibly damaging	Het

Other mutations in Bhlha9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01883:Bhlha9	APN	11	76,563,924 (GRCm39)	missense	probably benign	0.13
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCTCTCCAAGATCGCTAC -3'
(R):5'- TCTTTTGCAGTCACTCGGGC -3'

Sequencing Primer
(F):5'- TCCAAGATCGCTACGCTGC -3'
(R):5'- AAGCCGGCTTCCCTCTG -3'

Posted On

2019-11-12