Mutagenetix > Incidental Mutation

Incidental Mutation 'R6458:Ihh'

517410

Institutional Source

Beutler Lab

Gene Symbol

Ihh

Ensembl Gene

ENSMUSG00000006538

Gene Name

Indian hedgehog

Synonyms

MMRRC Submission

044593-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6458 (G1)

Quality Score

171.009

Status

Validated

Chromosome

Chromosomal Location

74984474-74990831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74985601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 295 (A295T)

Ref Sequence

ENSEMBL: ENSMUSP00000128056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164097]

AlphaFold

P97812

Predicted Effect

probably damaging
Transcript: ENSMUST00000164097
AA Change: A295T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128056
Gene: ENSMUSG00000006538
AA Change: A295T

Domain	Start	End	E-Value	Type
low complexity region	44	59	N/A	INTRINSIC
Pfam:HH_signal	66	227	2.7e-88	PFAM
HintN	239	346	3.15e-29	SMART
HintC	347	391	3.5e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189364

Meta Mutation Damage Score

0.7682

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.3%

Validation Efficiency

100% (56/56)

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 hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes die before or immediately after birth due to respiratory failure, exhibiting limb dwarfism associated with reduced chondrocyte proliferation, ectopic maturation of chondrocytes, and a failure of osteoblast development in endochondral bones. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	A	G	2: 164,646,655 (GRCm39)	V28A	possibly damaging	Het
Ak1	T	A	2: 32,520,385 (GRCm39)	M61K	probably damaging	Het
Akap12	T	C	10: 4,305,148 (GRCm39)	S653P	probably damaging	Het
Anapc4	G	A	5: 53,021,895 (GRCm39)	R659H	possibly damaging	Het
Arel1	T	C	12: 84,987,159 (GRCm39)	N86D	possibly damaging	Het
Bco1	A	G	8: 117,854,245 (GRCm39)	D390G	possibly damaging	Het
Ccr1l1	A	T	9: 123,778,203 (GRCm39)	D81E	probably damaging	Het
Chd1	A	T	17: 15,950,864 (GRCm39)	N185I	probably benign	Het
Clca4b	T	G	3: 144,617,088 (GRCm39)	N854T	possibly damaging	Het
Col4a4	T	C	1: 82,433,546 (GRCm39)	T1466A	unknown	Het
Cxcr4	T	C	1: 128,516,831 (GRCm39)	I277V	probably benign	Het
Dgkq	A	G	5: 108,802,242 (GRCm39)	V441A	possibly damaging	Het
Dnah10	G	T	5: 124,886,333 (GRCm39)	L3030F	probably damaging	Het
Epg5	T	A	18: 77,991,469 (GRCm39)	D55E	probably benign	Het
Ermap	A	T	4: 119,035,337 (GRCm39)	N550K	probably damaging	Het
Fnbp1l	A	T	3: 122,350,089 (GRCm39)	I374N	probably damaging	Het
Gadl1	T	A	9: 115,870,070 (GRCm39)	*479K	probably null	Het
Gm5591	T	A	7: 38,218,459 (GRCm39)	T805S	probably damaging	Het
H2-T3	A	T	17: 36,497,911 (GRCm39)	M334K	possibly damaging	Het
Il18r1	T	A	1: 40,530,342 (GRCm39)	Y356*	probably null	Het
Lingo3	A	G	10: 80,671,150 (GRCm39)	V260A	probably damaging	Het
Lrp2	T	G	2: 69,335,500 (GRCm39)	M1408L	probably benign	Het
Mical1	C	A	10: 41,360,731 (GRCm39)	H657N	probably benign	Het
Mpp2	T	A	11: 101,971,595 (GRCm39)	M12L	probably benign	Het
Muc16	A	T	9: 18,553,017 (GRCm39)	D4425E	probably benign	Het
Muc4	T	A	16: 32,579,694 (GRCm39)		probably null	Het
Myt1l	T	A	12: 29,945,298 (GRCm39)	F1021Y	unknown	Het
Nbas	T	C	12: 13,338,750 (GRCm39)	S197P	probably damaging	Het
Nckap1	T	C	2: 80,342,893 (GRCm39)		probably null	Het
Nek1	T	G	8: 61,553,046 (GRCm39)	V903G	probably benign	Het
Or14c43	A	G	7: 86,114,888 (GRCm39)	I90V	probably damaging	Het
Or1e18-ps1	T	G	11: 73,279,517 (GRCm39)	S112R	probably damaging	Het
Or4p22	T	A	2: 88,317,562 (GRCm39)	I162N	possibly damaging	Het
Or8b40	T	C	9: 38,027,350 (GRCm39)	V91A	possibly damaging	Het
Ppm1j	T	C	3: 104,688,560 (GRCm39)	V53A	probably benign	Het
Ralgapb	T	A	2: 158,286,540 (GRCm39)	D328E	probably damaging	Het
Rgma	T	A	7: 73,059,442 (GRCm39)	V88E	probably damaging	Het
Slc30a6	A	G	17: 74,730,108 (GRCm39)	T333A	probably damaging	Het
Spr	T	C	6: 85,114,039 (GRCm39)		probably null	Het
Srek1	A	T	13: 103,880,076 (GRCm39)	V494E	probably benign	Het
Ston1	A	T	17: 88,942,731 (GRCm39)	T46S	probably benign	Het
Stox2	T	C	8: 47,645,079 (GRCm39)	K858E	possibly damaging	Het
Thoc1	G	A	18: 9,993,333 (GRCm39)	R564Q	probably benign	Het
Thoc2l	A	T	5: 104,670,169 (GRCm39)	I1564L	probably benign	Het
Tmc5	T	A	7: 118,244,539 (GRCm39)	N472K	probably damaging	Het
Ttc41	A	G	10: 86,594,134 (GRCm39)	T856A	possibly damaging	Het
Ttn	A	T	2: 76,608,854 (GRCm39)	W17721R	probably damaging	Het
Vmn1r69	A	G	7: 10,314,365 (GRCm39)	I43T	probably benign	Het
Vmn2r56	T	A	7: 12,427,984 (GRCm39)	I761F	probably damaging	Het
Zfp109	T	C	7: 23,927,870 (GRCm39)	D521G	probably benign	Het
Zfp516	A	G	18: 83,005,475 (GRCm39)	H793R	probably benign	Het
Zfp800	A	T	6: 28,244,215 (GRCm39)	I250N	probably damaging	Het
Zpbp	T	A	11: 11,358,538 (GRCm39)	Y243F	probably damaging	Het

Other mutations in Ihh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Ihh	APN	1	74,985,601 (GRCm39)	missense	probably damaging	1.00
IGL02174:Ihh	APN	1	74,990,105 (GRCm39)	missense	probably damaging	0.98
Echidna	UTSW	1	74,985,886 (GRCm39)	missense	probably benign	0.08
R0047:Ihh	UTSW	1	74,985,750 (GRCm39)	missense	probably benign	0.01
R0047:Ihh	UTSW	1	74,985,750 (GRCm39)	missense	probably benign	0.01
R1404:Ihh	UTSW	1	74,990,372 (GRCm39)	start codon destroyed	probably null
R1404:Ihh	UTSW	1	74,990,372 (GRCm39)	start codon destroyed	probably null
R2936:Ihh	UTSW	1	74,985,705 (GRCm39)	missense	probably damaging	0.97
R4520:Ihh	UTSW	1	74,990,109 (GRCm39)	missense	probably damaging	1.00
R4540:Ihh	UTSW	1	74,987,558 (GRCm39)	missense	possibly damaging	0.94
R5399:Ihh	UTSW	1	74,985,436 (GRCm39)	missense	probably benign	0.00
R5736:Ihh	UTSW	1	74,985,286 (GRCm39)	missense	probably benign
R6026:Ihh	UTSW	1	74,985,886 (GRCm39)	missense	probably benign	0.08
R6073:Ihh	UTSW	1	74,990,438 (GRCm39)	utr 5 prime	probably benign
R6489:Ihh	UTSW	1	74,985,670 (GRCm39)	missense	probably damaging	1.00
R7311:Ihh	UTSW	1	74,990,306 (GRCm39)	missense	unknown
R7350:Ihh	UTSW	1	74,987,492 (GRCm39)	missense	probably damaging	1.00
R7818:Ihh	UTSW	1	74,985,804 (GRCm39)	missense	possibly damaging	0.84
R7835:Ihh	UTSW	1	74,985,525 (GRCm39)	missense	probably damaging	0.98
R9128:Ihh	UTSW	1	74,985,498 (GRCm39)	missense	probably damaging	1.00
Z1176:Ihh	UTSW	1	74,985,253 (GRCm39)	missense	probably damaging	1.00
Z1189:Ihh	UTSW	1	74,990,204 (GRCm39)	missense	probably damaging	1.00
Z1192:Ihh	UTSW	1	74,990,204 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGCCAACTGAGCCAGATG -3'
(R):5'- GTCAGCTGTAAAGCCAGGAGAC -3'

Sequencing Primer
(F):5'- ACAAGTGTCCCATGCCTT -3'
(R):5'- CTGGCCATGGGGGAGGATG -3'

Posted On

2018-05-21