Mutagenetix > Incidental Mutation

Incidental Mutation 'R2255:Hhip'

241952

Institutional Source

Beutler Lab

Gene Symbol

Hhip

Ensembl Gene

ENSMUSG00000064325

Gene Name

Hedgehog-interacting protein

Synonyms

Hip1, Hip, Hhip1

MMRRC Submission

040255-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80692480-80784635 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80771810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 167 (F167L)

Ref Sequence

ENSEMBL: ENSMUSP00000078047 (fasta)

Gene Model

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

AlphaFold

Q7TN16

Predicted Effect

probably damaging
Transcript: ENSMUST00000079038
AA Change: F167L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078047
Gene: ENSMUSG00000064325
AA Change: F167L

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	A	17: 46,616,561 (GRCm39)	T1210I	probably benign	Het
Agbl1	T	C	7: 76,071,932 (GRCm39)	F581S	probably damaging	Het
Ambra1	A	T	2: 91,747,806 (GRCm39)	N1061Y	probably damaging	Het
Aoc1l1	G	A	6: 48,952,891 (GRCm39)	R272H	possibly damaging	Het
Arl6ip5	T	C	6: 97,209,361 (GRCm39)	L132S	probably damaging	Het
Atp10b	G	A	11: 43,125,207 (GRCm39)	V1058I	probably damaging	Het
B3gnt4	A	C	5: 123,649,342 (GRCm39)	I236L	probably damaging	Het
Bmper	T	A	9: 23,292,759 (GRCm39)	I356N	possibly damaging	Het
Bpifa6	T	A	2: 153,832,815 (GRCm39)	I310N	probably damaging	Het
Btnl9	A	T	11: 49,060,143 (GRCm39)	L535*	probably null	Het
Capn3	A	G	2: 120,331,732 (GRCm39)	E614G	probably benign	Het
Catip	T	C	1: 74,408,159 (GRCm39)		probably benign	Het
Ccdc180	T	A	4: 45,921,996 (GRCm39)	S1023R	probably damaging	Het
Ces2g	G	A	8: 105,694,046 (GRCm39)	E461K	probably damaging	Het
Chad	C	A	11: 94,456,523 (GRCm39)	H200Q	possibly damaging	Het
Crbn	C	T	6: 106,772,159 (GRCm39)		probably null	Het
Crip3	G	C	17: 46,740,298 (GRCm39)	E33Q	probably damaging	Het
D130043K22Rik	A	T	13: 25,040,894 (GRCm39)	R105S	probably damaging	Het
Dmxl1	C	T	18: 49,979,706 (GRCm39)	H114Y	probably benign	Het
Dpp3	T	C	19: 4,968,347 (GRCm39)	N242D	probably benign	Het
Dtx3l	T	C	16: 35,756,949 (GRCm39)	N78S	probably benign	Het
Dync2h1	A	G	9: 6,955,905 (GRCm39)		probably null	Het
Esrp1	A	G	4: 11,365,211 (GRCm39)	V260A	probably damaging	Het
Etfdh	A	G	3: 79,511,349 (GRCm39)	V544A	probably benign	Het
Ezhip	T	G	X: 5,994,754 (GRCm39)	E87A	probably benign	Het
Fcgr1	G	T	3: 96,193,233 (GRCm39)	H255N	possibly damaging	Het
Fcrl2	G	T	3: 87,164,655 (GRCm39)	Y290*	probably null	Het
Frem2	A	G	3: 53,559,935 (GRCm39)	V1524A	probably damaging	Het
Gabbr1	T	C	17: 37,382,758 (GRCm39)	I817T	probably damaging	Het
Gapdhs	G	C	7: 30,429,333 (GRCm39)		probably null	Het
Gm57858	A	G	3: 36,074,099 (GRCm39)	V350A	probably benign	Het
Gopc	A	T	10: 52,225,181 (GRCm39)	I356K	probably damaging	Het
Gpi1	T	C	7: 33,902,302 (GRCm39)	N471S	probably damaging	Het
Gpr171	A	G	3: 59,005,628 (GRCm39)	V49A	probably benign	Het
Greb1l	T	A	18: 10,554,857 (GRCm39)	N1634K	probably damaging	Het
Gria1	G	A	11: 57,076,775 (GRCm39)	R57H	probably damaging	Het
Herpud1	A	G	8: 95,121,241 (GRCm39)	E344G	probably benign	Het
Hp1bp3	T	A	4: 137,953,209 (GRCm39)	D84E	probably damaging	Het
Ier3	A	G	17: 36,133,153 (GRCm39)	Y145C	probably damaging	Het
Ifi47	A	T	11: 48,987,474 (GRCm39)	I414L	probably benign	Het
Ifnl2	C	T	7: 28,209,638 (GRCm39)	A50T	possibly damaging	Het
Jade1	A	G	3: 41,546,185 (GRCm39)	Y70C	probably damaging	Het
Kif1b	A	T	4: 149,359,454 (GRCm39)	F94L	probably damaging	Het
Krt33a	A	T	11: 99,905,004 (GRCm39)	D167E	possibly damaging	Het
Map1a	A	G	2: 121,134,272 (GRCm39)	D1458G	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,523 (GRCm39)	L26S	possibly damaging	Het
Mtmr2	T	C	9: 13,707,353 (GRCm39)	Y230H	possibly damaging	Het
Nae1	T	A	8: 105,256,700 (GRCm39)	D69V	probably damaging	Het
Nbr1	T	A	11: 101,463,643 (GRCm39)	V625E	possibly damaging	Het
Nek1	T	C	8: 61,542,807 (GRCm39)	L702P	probably damaging	Het
Ntf3	T	C	6: 126,078,689 (GRCm39)	*272W	probably null	Het
Ofcc1	A	C	13: 40,248,181 (GRCm39)	L651R	probably damaging	Het
Olfm3	A	T	3: 114,915,842 (GRCm39)		probably null	Het
Pcdhb19	C	T	18: 37,630,997 (GRCm39)	A264V	probably benign	Het
Pear1	C	A	3: 87,659,493 (GRCm39)	W780C	probably damaging	Het
Pkhd1	T	A	1: 20,635,863 (GRCm39)	H489L	probably benign	Het
Pros1	T	A	16: 62,723,935 (GRCm39)	C228S	possibly damaging	Het
Rbm10	G	A	X: 20,501,978 (GRCm39)	R9H	unknown	Het
Rwdd1	T	C	10: 33,878,466 (GRCm39)	E123G	probably damaging	Het
Slc22a2	G	T	17: 12,818,062 (GRCm39)	V213F	probably damaging	Het
Slc34a1	T	C	13: 24,004,991 (GRCm39)	I412T	probably benign	Het
Smarca2	A	T	19: 26,748,438 (GRCm39)	I98L	probably benign	Het
Spag6l	T	C	16: 16,595,203 (GRCm39)	E394G	probably damaging	Het
Spdef	T	C	17: 27,939,269 (GRCm39)	T26A	probably benign	Het
Stk17b	T	C	1: 53,815,731 (GRCm39)	I23V	probably benign	Het
Sult2a7	A	G	7: 14,225,818 (GRCm39)	I56T	probably damaging	Het
Tango6	T	A	8: 107,415,926 (GRCm39)		probably null	Het
Tex46	T	C	4: 136,337,844 (GRCm39)	L12P	possibly damaging	Het
Ttn	T	A	2: 76,598,684 (GRCm39)	M19410L	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Unc5cl	T	A	17: 48,766,974 (GRCm39)	I116N	possibly damaging	Het
Unc80	A	T	1: 66,657,417 (GRCm39)	I1630F	possibly damaging	Het
Upb1	G	A	10: 75,272,051 (GRCm39)	R288H	probably damaging	Het
Wdr62	T	G	7: 29,967,328 (GRCm39)	I309L	probably damaging	Het
Whrn	C	T	4: 63,336,385 (GRCm39)	V295M	possibly damaging	Het
Wrn	G	A	8: 33,819,230 (GRCm39)	P241S	probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp687	A	T	3: 94,917,748 (GRCm39)	C675S	probably damaging	Het
Zfp954	A	G	7: 7,118,321 (GRCm39)	Y408H	possibly damaging	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
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
R4677:Hhip	UTSW	8	80,771,726 (GRCm39)	missense	probably damaging	0.96
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'- GGTGTGTTGCTGTCAAAACC -3'
(R):5'- AAGGGCATCTCAATCCCTCC -3'

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

Posted On

2014-10-16