Mutagenetix > Incidental Mutation

Incidental Mutation 'R4677:Hhip'

349670

Institutional Source

Beutler Lab

Gene Symbol

Hhip

Ensembl Gene

ENSMUSG00000064325

Gene Name

Hedgehog-interacting protein

Synonyms

Hip1, Hip, Hhip1

MMRRC Submission

042014-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4677 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80692480-80784635 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80771726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 195 (Y195H)

Ref Sequence

ENSEMBL: ENSMUSP00000078047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079038]

AlphaFold

Q7TN16

Predicted Effect

probably damaging
Transcript: ENSMUST00000079038
AA Change: Y195H

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078047
Gene: ENSMUSG00000064325
AA Change: Y195H

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Folate_rec	38	220	4.9e-26	PFAM
Pfam:GSDH	226	444	3e-22	PFAM
EGF	593	635	9.63e0	SMART
EGF	638	667	2.35e-2	SMART

Meta Mutation Damage Score

0.0836

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (85/85)

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-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a reporter allele die shortly after birth due to respiratory failure, show defects in lung, spleen and pancreas morphogenesis, and exhibit small and disorganized pancreatic islets and reduced beta-cell proliferation. [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
Adamts9	T	C	6: 92,793,587 (GRCm39)	M1T	probably null	Het
Akap3	T	C	6: 126,842,226 (GRCm39)	S282P	probably damaging	Het
Anxa10	A	G	8: 62,516,054 (GRCm39)	I206T	probably damaging	Het
Apobec3	A	G	15: 79,779,713 (GRCm39)	D52G	probably damaging	Het
Arl6	A	T	16: 59,439,228 (GRCm39)		probably null	Het
Calcoco1	T	C	15: 102,626,329 (GRCm39)	E87G	probably damaging	Het
Ccdc88b	C	A	19: 6,825,636 (GRCm39)	A1206S	probably damaging	Het
Ccpg1	A	G	9: 72,923,197 (GRCm39)		probably benign	Het
Cdon	A	G	9: 35,389,901 (GRCm39)	N852D	probably damaging	Het
Cobl	T	A	11: 12,336,665 (GRCm39)	Q41L	possibly damaging	Het
Cspg4b	A	G	13: 113,516,020 (GRCm39)	T145A	unknown	Het
Dcdc2b	T	C	4: 129,507,936 (GRCm39)	T39A	probably damaging	Het
Ddx55	A	T	5: 124,705,997 (GRCm39)	D474V	probably benign	Het
Dipk2a	A	T	9: 94,402,457 (GRCm39)	C402S	probably damaging	Het
Dnah17	A	G	11: 118,010,640 (GRCm39)	L521P	probably damaging	Het
Exoc1	A	G	5: 76,707,010 (GRCm39)	D497G	probably null	Het
Fam151a	A	G	4: 106,605,456 (GRCm39)	E606G	possibly damaging	Het
Fbxw11	T	A	11: 32,692,535 (GRCm39)	L502*	probably null	Het
Fcrl1	A	G	3: 87,297,563 (GRCm39)	S337G	possibly damaging	Het
G6pc1	C	A	11: 101,267,439 (GRCm39)	F296L	probably benign	Het
Gm17472	C	A	6: 42,957,809 (GRCm39)	T26N	probably damaging	Het
Grin2b	A	G	6: 135,751,870 (GRCm39)	V564A	probably benign	Het
H2-Ob	T	C	17: 34,461,618 (GRCm39)	I119T	probably benign	Het
Igkc	A	T	6: 70,703,662 (GRCm39)		probably benign	Het
Islr	A	T	9: 58,064,642 (GRCm39)	D288E	probably damaging	Het
Kdelr1	A	G	7: 45,523,197 (GRCm39)	S36G	probably benign	Het
Lama5	G	T	2: 179,821,159 (GRCm39)	H3134Q	possibly damaging	Het
Loricrin	A	G	3: 91,989,050 (GRCm39)	Y79H	unknown	Het
Lrp1b	A	G	2: 40,691,496 (GRCm39)	F3327S	probably damaging	Het
Lrrc41	C	T	4: 115,952,332 (GRCm39)	H637Y	probably benign	Het
Map2k6	C	T	11: 110,290,220 (GRCm39)		probably benign	Het
Mcm3ap	T	G	10: 76,306,404 (GRCm39)	F172L	probably damaging	Het
Muc19	G	A	15: 91,772,411 (GRCm39)		noncoding transcript	Het
Muc21	T	A	17: 35,930,599 (GRCm39)		probably benign	Het
Muc6	T	A	7: 141,224,212 (GRCm39)		probably benign	Het
Nek1	A	T	8: 61,481,840 (GRCm39)	I252L	probably damaging	Het
Nrg2	A	T	18: 36,154,152 (GRCm39)	H588Q	possibly damaging	Het
Nt5dc2	T	C	14: 30,860,878 (GRCm39)	V351A	possibly damaging	Het
Or1j12	A	G	2: 36,343,062 (GRCm39)	N155S	probably benign	Het
Or51b17	T	C	7: 103,542,615 (GRCm39)	E109G	probably damaging	Het
Or5m5	A	G	2: 85,814,315 (GRCm39)	T44A	possibly damaging	Het
Or8k1	A	T	2: 86,048,032 (GRCm39)	S7R	probably benign	Het
Pde3a	A	G	6: 141,411,865 (GRCm39)	N480D	probably benign	Het
Pde6c	A	G	19: 38,145,833 (GRCm39)	K374E	probably damaging	Het
Pdhx	G	A	2: 102,903,811 (GRCm39)		probably null	Het
Pi4ka	A	G	16: 17,100,237 (GRCm39)	Y1888H	probably damaging	Het
Pnpla2	T	A	7: 141,038,356 (GRCm39)	M203K	probably damaging	Het
Prrc2c	C	T	1: 162,532,748 (GRCm39)		probably benign	Het
Ptcd3	G	T	6: 71,870,498 (GRCm39)	H321N	probably benign	Het
Ptprt	A	G	2: 161,743,366 (GRCm39)		probably null	Het
Ptx4	A	G	17: 25,342,100 (GRCm39)	T192A	probably benign	Het
Qars1	A	G	9: 108,386,889 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,187,387 (GRCm39)	P1372S	possibly damaging	Het
Rps6ka4	G	T	19: 6,816,854 (GRCm39)	T107K	probably damaging	Het
Rsf1	A	G	7: 97,329,980 (GRCm39)	T1169A	possibly damaging	Het
Ryr2	C	A	13: 11,721,553 (GRCm39)	W2626L	probably damaging	Het
Scn4a	C	T	11: 106,214,788 (GRCm39)	V1270I	probably damaging	Het
Serpinb9b	T	C	13: 33,223,806 (GRCm39)	S333P	probably damaging	Het
Sned1	A	G	1: 93,224,019 (GRCm39)		probably benign	Het
Sult1c2	C	T	17: 54,137,137 (GRCm39)	V262M	possibly damaging	Het
Tll1	A	T	8: 64,504,411 (GRCm39)	F662I	probably benign	Het
Tmem161a	A	T	8: 70,633,597 (GRCm39)		probably null	Het
Top1mt	A	C	15: 75,535,907 (GRCm39)	V465G	possibly damaging	Het
Trcg1	A	G	9: 57,153,144 (GRCm39)	K596E	possibly damaging	Het
Trim27	T	A	13: 21,365,086 (GRCm39)		probably null	Het
Trpm3	A	G	19: 22,964,752 (GRCm39)	I1406V	possibly damaging	Het
Tssc4	T	A	7: 142,624,246 (GRCm39)	S254T	probably damaging	Het
Ttc7	C	A	17: 87,678,163 (GRCm39)		probably benign	Het
Usp30	A	G	5: 114,257,705 (GRCm39)	T288A	probably damaging	Het
Usp48	C	A	4: 137,343,692 (GRCm39)	R441S	probably benign	Het
Vmn1r29	T	C	6: 58,284,285 (GRCm39)	S2P	probably benign	Het
Vmn2r65	T	A	7: 84,613,082 (GRCm39)	I46L	possibly damaging	Het
Zeb1	A	T	18: 5,766,775 (GRCm39)	I429F	probably damaging	Het
Zfp943	A	G	17: 22,212,176 (GRCm39)	R421G	probably benign	Het

Other mutations in Hhip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Hhip	APN	8	80,723,412 (GRCm39)	missense	probably damaging	0.96
IGL02560:Hhip	APN	8	80,713,638 (GRCm39)	missense	probably damaging	0.98
IGL03046:Hhip	UTSW	8	80,698,967 (GRCm39)	missense	probably damaging	0.99
R0068:Hhip	UTSW	8	80,715,885 (GRCm39)	missense	probably damaging	1.00
R0356:Hhip	UTSW	8	80,724,121 (GRCm39)	missense	probably benign	0.20
R0707:Hhip	UTSW	8	80,724,884 (GRCm39)	missense	probably damaging	1.00
R1163:Hhip	UTSW	8	80,719,105 (GRCm39)	missense	probably damaging	1.00
R1583:Hhip	UTSW	8	80,716,905 (GRCm39)	missense	probably damaging	1.00
R1900:Hhip	UTSW	8	80,701,675 (GRCm39)	missense	probably benign	0.15
R2071:Hhip	UTSW	8	80,783,931 (GRCm39)	missense	probably benign	0.00
R2255:Hhip	UTSW	8	80,771,810 (GRCm39)	missense	probably damaging	0.98
R3847:Hhip	UTSW	8	80,724,124 (GRCm39)	missense	probably benign	0.00
R4012:Hhip	UTSW	8	80,719,223 (GRCm39)	missense	probably damaging	1.00
R4448:Hhip	UTSW	8	80,770,574 (GRCm39)	critical splice donor site	probably null
R4607:Hhip	UTSW	8	80,724,192 (GRCm39)	missense	probably damaging	0.99
R4608:Hhip	UTSW	8	80,724,192 (GRCm39)	missense	probably damaging	0.99
R4738:Hhip	UTSW	8	80,719,199 (GRCm39)	missense	probably damaging	0.98
R5040:Hhip	UTSW	8	80,724,235 (GRCm39)	missense	probably benign	0.00
R5371:Hhip	UTSW	8	80,724,220 (GRCm39)	missense	probably damaging	0.98
R5594:Hhip	UTSW	8	80,723,492 (GRCm39)	missense	probably damaging	1.00
R5785:Hhip	UTSW	8	80,724,821 (GRCm39)	missense	possibly damaging	0.84
R6026:Hhip	UTSW	8	80,699,069 (GRCm39)	missense	probably damaging	1.00
R6259:Hhip	UTSW	8	80,699,033 (GRCm39)	missense	probably damaging	1.00
R6782:Hhip	UTSW	8	80,778,233 (GRCm39)	missense	probably damaging	1.00
R7105:Hhip	UTSW	8	80,701,638 (GRCm39)	missense	probably benign	0.04
R7134:Hhip	UTSW	8	80,719,142 (GRCm39)	missense	probably benign
R7238:Hhip	UTSW	8	80,713,641 (GRCm39)	missense	probably benign
R7828:Hhip	UTSW	8	80,724,837 (GRCm39)	missense	probably benign	0.00
R8418:Hhip	UTSW	8	80,771,714 (GRCm39)	missense	probably damaging	0.99
R8814:Hhip	UTSW	8	80,778,101 (GRCm39)	missense	probably damaging	1.00
R8947:Hhip	UTSW	8	80,771,785 (GRCm39)	missense	probably damaging	0.97
R9101:Hhip	UTSW	8	80,770,591 (GRCm39)	missense	probably damaging	1.00
R9163:Hhip	UTSW	8	80,701,743 (GRCm39)	missense	probably benign	0.00
R9355:Hhip	UTSW	8	80,778,233 (GRCm39)	missense	probably damaging	1.00
R9397:Hhip	UTSW	8	80,719,112 (GRCm39)	missense	probably benign
R9673:Hhip	UTSW	8	80,719,108 (GRCm39)	missense	probably damaging	1.00
R9685:Hhip	UTSW	8	80,723,363 (GRCm39)	missense	probably damaging	1.00
X0026:Hhip	UTSW	8	80,719,189 (GRCm39)	missense	possibly damaging	0.93
Z1177:Hhip	UTSW	8	80,783,880 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGTTGCTGTCAAAACCAC -3'
(R):5'- CAAGTGAGCTGGTTTTGCTAGAC -3'

Sequencing Primer
(F):5'- GCTGTCAAAACCACAGATTTGG -3'
(R):5'- CTAGACTTCGAGGTCCTAATGAGTC -3'

Posted On

2015-10-08