Mutagenetix > Incidental Mutation

Incidental Mutation 'R6026:Ihh'

480010

Institutional Source

Beutler Lab

Gene Symbol

Ihh

Ensembl Gene

ENSMUSG00000006538

Gene Name

Indian hedgehog

Synonyms

MMRRC Submission

044198-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74984474-74990831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74985886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 200 (T200A)

Ref Sequence

ENSEMBL: ENSMUSP00000128056 (fasta)

Gene Model

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

AlphaFold

P97812

Predicted Effect

probably benign
Transcript: ENSMUST00000164097
AA Change: T200A

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000128056
Gene: ENSMUSG00000006538
AA Change: T200A

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

0.5664

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

97% (73/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,316,581 (GRCm39)	D187G	probably benign	Het
4933421I07Rik	A	T	7: 42,095,708 (GRCm39)	M180K	probably benign	Het
Aatk	T	C	11: 119,903,190 (GRCm39)	H345R	possibly damaging	Het
Abcc8	T	C	7: 45,816,424 (GRCm39)	T239A	probably benign	Het
Abcf3	A	G	16: 20,369,320 (GRCm39)	E234G	probably damaging	Het
Actrt2	T	C	4: 154,751,047 (GRCm39)	D363G	possibly damaging	Het
Adam1a	A	T	5: 121,657,425 (GRCm39)	C623S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Barhl2	T	A	5: 106,603,474 (GRCm39)	K228N	probably benign	Het
Blvrb	A	G	7: 27,162,115 (GRCm39)	H153R	probably damaging	Het
Capn9	A	G	8: 125,332,601 (GRCm39)	D480G	probably damaging	Het
Cct3	T	C	3: 88,219,029 (GRCm39)	I182T	possibly damaging	Het
Clasp2	A	G	9: 113,740,646 (GRCm39)	N1208D	probably benign	Het
Col26a1	A	G	5: 136,876,354 (GRCm39)	C89R	probably damaging	Het
Cops4	T	A	5: 100,690,194 (GRCm39)		probably benign	Het
Cpox	T	A	16: 58,491,298 (GRCm39)	W170R	probably damaging	Het
Ddx27	A	G	2: 166,875,560 (GRCm39)	K656E	probably benign	Het
Eif4e	T	C	3: 138,256,661 (GRCm39)	I66T	probably damaging	Het
Ercc3	T	C	18: 32,378,974 (GRCm39)		probably null	Het
Esp38	G	A	17: 40,266,032 (GRCm39)	C47Y	probably damaging	Het
Fancd2	T	C	6: 113,528,731 (GRCm39)	V380A	possibly damaging	Het
Fbxw7	T	A	3: 84,859,948 (GRCm39)		probably null	Het
Fryl	T	G	5: 73,257,340 (GRCm39)	R736S	probably benign	Het
Gad2	G	A	2: 22,513,748 (GRCm39)	V62M	probably benign	Het
Gigyf2	A	G	1: 87,368,454 (GRCm39)	T1045A	probably damaging	Het
Gm13090	T	A	4: 151,175,157 (GRCm39)	L78*	probably null	Het
Gm19410	G	A	8: 36,279,580 (GRCm39)	S1815N	probably benign	Het
Gm28051	A	T	12: 102,686,444 (GRCm39)	L72Q	unknown	Het
Gm44511	T	C	6: 128,797,240 (GRCm39)	T83A	possibly damaging	Het
Grk2	C	T	19: 4,340,811 (GRCm39)	V246I	probably damaging	Het
Grm7	C	T	6: 111,478,500 (GRCm39)	Q62*	probably null	Het
Gsdmc3	T	A	15: 63,738,600 (GRCm39)	E154V	probably damaging	Het
Gstz1	A	C	12: 87,206,948 (GRCm39)	Q114P	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hhip	A	T	8: 80,699,069 (GRCm39)	C666S	probably damaging	Het
Hif1a	A	C	12: 73,979,055 (GRCm39)	H193P	probably damaging	Het
Hyal2	A	G	9: 107,449,398 (GRCm39)	T385A	probably benign	Het
Iqgap3	T	A	3: 87,997,478 (GRCm39)	V218E	probably damaging	Het
Lct	A	G	1: 128,227,755 (GRCm39)	I1246T	probably benign	Het
Lmo7	T	C	14: 102,118,426 (GRCm39)	V217A	probably benign	Het
Lrp1	C	T	10: 127,409,272 (GRCm39)	D1616N	probably damaging	Het
Lrrfip2	A	T	9: 111,043,239 (GRCm39)	T165S	probably damaging	Het
Morc2b	A	G	17: 33,356,957 (GRCm39)	Y272H	possibly damaging	Het
Muc16	A	G	9: 18,571,154 (GRCm39)	M455T	unknown	Het
Ncapg2	A	T	12: 116,406,641 (GRCm39)	D939V	possibly damaging	Het
Ncbp3	T	C	11: 72,958,548 (GRCm39)	V236A	probably benign	Het
Obscn	T	A	11: 58,957,916 (GRCm39)	T3595S	probably damaging	Het
Odf2l	T	C	3: 144,854,797 (GRCm39)	S545P	possibly damaging	Het
Or3a1	T	A	11: 74,225,914 (GRCm39)	I48F	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pdzrn3	A	C	6: 101,339,105 (GRCm39)	C269G	probably benign	Het
Pear1	T	A	3: 87,664,220 (GRCm39)	N278Y	probably damaging	Het
Phb1	C	T	11: 95,562,245 (GRCm39)	R41*	probably null	Het
Pikfyve	T	C	1: 65,311,856 (GRCm39)	V2031A	probably damaging	Het
Plxna2	A	G	1: 194,482,122 (GRCm39)	I1465V	probably damaging	Het
Ppp6r2	A	G	15: 89,167,113 (GRCm39)	N776S	probably benign	Het
Prkce	A	T	17: 86,800,658 (GRCm39)	E358V	probably benign	Het
Prl5a1	A	T	13: 28,335,247 (GRCm39)	I219F	probably benign	Het
Prss3	T	C	6: 41,354,488 (GRCm39)		probably null	Het
Ptprc	A	T	1: 137,998,987 (GRCm39)	M858K	probably damaging	Het
Retreg3	T	C	11: 100,997,226 (GRCm39)	T85A	probably damaging	Het
Rfc2	T	A	5: 134,624,185 (GRCm39)	C265S	probably damaging	Het
Smarcd1	G	T	15: 99,603,619 (GRCm39)	V256L	probably damaging	Het
Stat5a	T	C	11: 100,771,142 (GRCm39)	F574L	probably damaging	Het
Tcirg1	T	C	19: 3,947,487 (GRCm39)	H624R	probably benign	Het
Tcstv1a	C	A	13: 120,355,987 (GRCm39)		probably benign	Het
Tenm2	C	T	11: 35,963,556 (GRCm39)		probably null	Het
Tomm40	A	G	7: 19,444,889 (GRCm39)	V164A	probably benign	Het
Txnl4a	T	C	18: 80,250,482 (GRCm39)	V26A	probably damaging	Het
Ugt2a3	A	T	5: 87,484,336 (GRCm39)	F229L	probably benign	Het
Utp20	T	C	10: 88,604,541 (GRCm39)	T1785A	probably benign	Het
Vmn1r22	T	A	6: 57,877,390 (GRCm39)	I196L	probably benign	Het
Zfp652	T	G	11: 95,640,788 (GRCm39)	C238G	possibly 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
R6073:Ihh	UTSW	1	74,990,438 (GRCm39)	utr 5 prime	probably benign
R6458:Ihh	UTSW	1	74,985,601 (GRCm39)	missense	probably damaging	1.00
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'- AAAGCTCTCAGCCGGTTTGG -3'
(R):5'- GTGTTCCTCTCAGTGGCTAG -3'

Sequencing Primer
(F):5'- GCTCGCGGTCCAGGAAAATAAG -3'
(R):5'- CAGAGGATCAAGCTATGGGTTGG -3'

Posted On

2017-06-26