Mutagenetix > Incidental Mutation

Incidental Mutation 'R7818:Ihh'

601627

Institutional Source

Beutler Lab

Gene Symbol

Ihh

Ensembl Gene

ENSMUSG00000006538

Gene Name

Indian hedgehog

Synonyms

MMRRC Submission

045872-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7818 (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 74985804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 227 (D227G)

Ref Sequence

ENSEMBL: ENSMUSP00000128056 (fasta)

Gene Model

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

AlphaFold

P97812

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164097
AA Change: D227G

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128056
Gene: ENSMUSG00000006538
AA Change: D227G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

99% (88/89)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,215,519 (GRCm39)	R342S	probably benign	Het
Aatk	C	T	11: 119,912,281 (GRCm39)	V55I	probably benign	Het
Abhd10	T	A	16: 45,557,916 (GRCm39)	I128L	probably benign	Het
Abraxas1	T	A	5: 100,954,176 (GRCm39)	M325L	probably benign	Het
Adgrb2	C	A	4: 129,908,353 (GRCm39)	L1087I	probably damaging	Het
Adgrb2	C	T	4: 129,908,762 (GRCm39)	P1124S	possibly damaging	Het
Akap9	T	A	5: 4,063,875 (GRCm39)	Y1741*	probably null	Het
Ap1g2	A	T	14: 55,337,181 (GRCm39)	V718D	probably benign	Het
Asph	A	T	4: 9,475,015 (GRCm39)	M637K	probably damaging	Het
Atp2c1	T	C	9: 105,291,956 (GRCm39)	I869V	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cacna1e	T	C	1: 154,274,152 (GRCm39)	D2251G	probably damaging	Het
Camk2b	A	G	11: 5,927,812 (GRCm39)	S413P	probably benign	Het
Casz1	G	A	4: 149,030,533 (GRCm39)	C1184Y	probably damaging	Het
Cbr4	G	A	8: 61,940,976 (GRCm39)	V32I	probably benign	Het
Ccdc166	A	G	15: 75,852,864 (GRCm39)	S368P	possibly damaging	Het
Ccdc170	A	G	10: 4,499,603 (GRCm39)	N508S	probably benign	Het
Ccdc187	A	G	2: 26,166,186 (GRCm39)	S748P	possibly damaging	Het
Cdca8	A	T	4: 124,820,456 (GRCm39)		probably null	Het
Cep120	T	C	18: 53,856,175 (GRCm39)	D414G	probably benign	Het
Dcp1a	G	T	14: 30,201,678 (GRCm39)	A34S	probably damaging	Het
Ddit3	C	T	10: 127,131,662 (GRCm39)	T70I	probably benign	Het
Dlg2	C	G	7: 91,589,225 (GRCm39)	A313G	probably damaging	Het
Dnah9	A	T	11: 65,916,037 (GRCm39)	V2305D	possibly damaging	Het
Dock1	T	A	7: 134,365,594 (GRCm39)	D427E	probably damaging	Het
Dolpp1	T	C	2: 30,286,503 (GRCm39)	L141P	probably benign	Het
Dsc2	A	T	18: 20,183,189 (GRCm39)	D76E	probably damaging	Het
Dusp7	C	A	9: 106,246,329 (GRCm39)	N111K	probably benign	Het
Fam193a	A	G	5: 34,622,997 (GRCm39)	E1195G	possibly damaging	Het
Fig4	A	G	10: 41,139,162 (GRCm39)	L347P	probably damaging	Het
Frem1	T	C	4: 82,932,245 (GRCm39)	E152G	probably damaging	Het
Galnt2	G	T	8: 125,056,527 (GRCm39)	D234Y	probably damaging	Het
H1f3	C	T	13: 23,739,165 (GRCm39)		probably benign	Het
Igkv4-59	T	C	6: 69,415,475 (GRCm39)	T27A	possibly damaging	Het
Il1rap	T	A	16: 26,517,597 (GRCm39)	C266S	probably damaging	Het
Iqcf4	A	T	9: 106,447,738 (GRCm39)	L57*	probably null	Het
Kif2b	A	G	11: 91,466,952 (GRCm39)	S444P	probably damaging	Het
Lmf1	T	G	17: 25,881,565 (GRCm39)	I538S	probably benign	Het
Mical2	A	G	7: 111,944,514 (GRCm39)	Y948C	probably damaging	Het
Mr1	G	A	1: 155,006,382 (GRCm39)	Q322*	probably null	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Mup6	A	G	4: 60,004,884 (GRCm39)	T100A	probably benign	Het
Mybpc1	T	A	10: 88,394,529 (GRCm39)	D266V	probably damaging	Het
Myocos	T	C	1: 162,475,063 (GRCm39)	N48S	unknown	Het
Naf1	G	A	8: 67,342,028 (GRCm39)	G551E	probably damaging	Het
Nrarp	A	G	2: 25,071,250 (GRCm39)	N43S	possibly damaging	Het
Or4a80	A	G	2: 89,582,288 (GRCm39)	S295P	possibly damaging	Het
Or5p52	G	A	7: 107,502,230 (GRCm39)	C102Y	probably benign	Het
Or7a40	A	C	16: 16,491,437 (GRCm39)	M136R	probably damaging	Het
Or7g19	T	A	9: 18,856,305 (GRCm39)	Y120*	probably null	Het
Or8b57	T	A	9: 40,004,008 (GRCm39)	M85L	probably damaging	Het
Padi3	T	A	4: 140,525,453 (GRCm39)	T177S	possibly damaging	Het
Pde3b	A	G	7: 114,090,675 (GRCm39)	M305V	probably damaging	Het
Pde6a	T	A	18: 61,414,580 (GRCm39)		probably null	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prph	A	G	15: 98,955,753 (GRCm39)	T446A	probably damaging	Het
Pwwp2b	T	C	7: 138,835,240 (GRCm39)	V227A	probably benign	Het
Rev3l	T	C	10: 39,699,898 (GRCm39)	I1465T	possibly damaging	Het
Rin1	A	G	19: 5,102,219 (GRCm39)	S243G	probably benign	Het
Ripor3	A	T	2: 167,831,346 (GRCm39)	I485N	probably benign	Het
Rnpc3	G	T	3: 113,423,600 (GRCm39)	P35Q	probably damaging	Het
Sbpl	G	T	17: 24,172,236 (GRCm39)	Q228K	unknown	Het
Scn11a	A	C	9: 119,613,177 (GRCm39)	N804K	probably damaging	Het
Selenoo	A	G	15: 88,981,019 (GRCm39)	T453A	probably damaging	Het
Sez6	C	T	11: 77,867,728 (GRCm39)	P882S	probably damaging	Het
Skint5	C	T	4: 113,799,923 (GRCm39)	R82H	possibly damaging	Het
Slc18a2	A	C	19: 59,251,593 (GRCm39)	T115P	probably benign	Het
Slc1a2	A	G	2: 102,574,301 (GRCm39)	D237G	probably benign	Het
Spidr	T	C	16: 15,932,729 (GRCm39)	S184G	probably damaging	Het
Stag3	A	T	5: 138,299,705 (GRCm39)	Q872L	probably benign	Het
Suds3	T	C	5: 117,253,814 (GRCm39)		probably benign	Het
Sv2c	T	A	13: 96,123,328 (GRCm39)	K382*	probably null	Het
Taf2	T	C	15: 54,929,326 (GRCm39)	I77V	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tdrd3	G	T	14: 87,709,636 (GRCm39)	C100F	probably damaging	Het
Tek	T	A	4: 94,715,953 (GRCm39)	H458Q	possibly damaging	Het
Tes	C	A	6: 17,099,743 (GRCm39)	P246Q	probably damaging	Het
Tgif1	A	T	17: 71,156,603 (GRCm39)		probably null	Het
Tlr11	A	T	14: 50,599,285 (GRCm39)	N424Y	probably damaging	Het
Tmc8	A	T	11: 117,682,953 (GRCm39)	N626I	probably damaging	Het
Tmem132c	T	A	5: 127,641,152 (GRCm39)	*1108K	probably null	Het
Tnks	A	T	8: 35,340,182 (GRCm39)	Y479N	probably benign	Het
Trip12	C	T	1: 84,738,527 (GRCm39)	G776D	probably damaging	Het
Tssk1	A	G	16: 17,712,311 (GRCm39)	E32G	probably benign	Het
Ube2o	T	C	11: 116,434,736 (GRCm39)	D575G	probably damaging	Het
Uckl1	A	T	2: 181,216,460 (GRCm39)	M16K	probably damaging	Het
Zfp948	A	T	17: 21,807,985 (GRCm39)	E392D	probably benign	Het
Zmynd8	G	A	2: 165,684,751 (GRCm39)	T167I	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
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
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'- CACATGGCTGGCAAATGTGG -3'
(R):5'- AGAGAAGCTCTCCTGGGTTAG -3'

Sequencing Primer
(F):5'- CAAATGTGGCCCGGAAGTG -3'
(R):5'- TTAGGGTACTAGGGGCGGGAC -3'

Posted On

2019-12-03