Mutagenetix > Incidental Mutation

Incidental Mutation 'R2045:Hip1r'

221798

Institutional Source

Beutler Lab

Gene Symbol

Hip1r

Ensembl Gene

ENSMUSG00000000915

Gene Name

huntingtin interacting protein 1 related

Synonyms

MMRRC Submission

040052-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2045 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124111665-124141278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124138794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 839 (M839T)

Ref Sequence

ENSEMBL: ENSMUSP00000000939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000939] [ENSMUST00000040967]

AlphaFold

Q9JKY5

Predicted Effect

probably benign
Transcript: ENSMUST00000000939
AA Change: M839T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000939
Gene: ENSMUSG00000000915
AA Change: M839T

Domain	Start	End	E-Value	Type
ENTH	29	151	5.27e-40	SMART
low complexity region	301	321	N/A	INTRINSIC
PDB:3I00\|B	340	458	1e-21	PDB
Pfam:HIP1_clath_bdg	461	559	1.1e-34	PFAM
low complexity region	627	633	N/A	INTRINSIC
ILWEQ	814	1012	9.19e-121	SMART
low complexity region	1016	1035	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040967

SMART Domains

Protein: ENSMUSP00000047980
Gene: ENSMUSG00000066278

Domain	Start	End	E-Value	Type
Pfam:Mod_r	11	156	3.9e-40	PFAM
low complexity region	170	188	N/A	INTRINSIC
low complexity region	200	215	N/A	INTRINSIC
low complexity region	262	280	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166258

SMART Domains

Protein: ENSMUSP00000130766
Gene: ENSMUSG00000000915

Domain	Start	End	E-Value	Type
Pfam:ANTH	1	79	3.5e-19	PFAM
low complexity region	80	100	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171407

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185154

Predicted Effect

unknown
Transcript: ENSMUST00000198664
AA Change: M114T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192309

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (74/74)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display no abnormal phenotype. [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
Acta2	C	T	19: 34,220,799 (GRCm39)	G303E	probably damaging	Het
Adamts1	A	T	16: 85,592,864 (GRCm39)	Y515N	probably damaging	Het
Ankef1	T	C	2: 136,396,658 (GRCm39)	V695A	probably benign	Het
Ankrd63	C	A	2: 118,533,834 (GRCm39)		probably benign	Het
Asah2	A	T	19: 32,030,356 (GRCm39)	N105K	probably benign	Het
Atf2	A	C	2: 73,693,552 (GRCm39)	D3E	probably damaging	Het
Atp5pb	T	C	3: 105,851,190 (GRCm39)		probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bms1	A	C	6: 118,369,588 (GRCm39)	L960W	probably damaging	Het
Cacna1c	A	G	6: 118,633,098 (GRCm39)	V977A	probably damaging	Het
Cadps2	A	G	6: 23,839,121 (GRCm39)	S6P	possibly damaging	Het
Capn8	A	G	1: 182,440,951 (GRCm39)	T462A	probably benign	Het
Cd226	T	C	18: 89,225,486 (GRCm39)	S128P	probably benign	Het
Cd33	G	T	7: 43,179,316 (GRCm39)	H278N	probably benign	Het
Cdh1	T	C	8: 107,392,814 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,874,671 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,078,882 (GRCm39)	I397M	probably benign	Het
Cic	C	A	7: 24,970,961 (GRCm39)	Q231K	possibly damaging	Het
Clca4b	A	G	3: 144,630,924 (GRCm39)	V312A	probably damaging	Het
Cngb1	T	A	8: 96,023,713 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,140,616 (GRCm39)	I430V	probably benign	Het
Dnah12	A	G	14: 26,503,485 (GRCm39)	E1613G	probably null	Het
Dock2	T	C	11: 34,244,106 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,160,171 (GRCm39)	F646I	probably damaging	Het
Eef1b2	A	T	1: 63,218,646 (GRCm39)	K144*	probably null	Het
Erap1	T	C	13: 74,817,569 (GRCm39)	V137A	probably benign	Het
Far1	A	T	7: 113,138,478 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,223,730 (GRCm39)	C807S	probably damaging	Het
Fgfr1	A	G	8: 26,048,231 (GRCm39)	K209R	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Frem2	A	T	3: 53,443,165 (GRCm39)	V2533D	probably damaging	Het
Igfbp2	A	G	1: 72,891,310 (GRCm39)	S303G	probably benign	Het
Insyn2a	T	G	7: 134,520,159 (GRCm39)	K124Q	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itgb3	T	G	11: 104,514,239 (GRCm39)	S27A	probably benign	Het
Kif21b	G	A	1: 136,088,051 (GRCm39)	D1015N	probably damaging	Het
Krt7	A	T	15: 101,321,365 (GRCm39)		probably null	Het
Krtdap	T	A	7: 30,490,010 (GRCm39)	F80L	probably benign	Het
Lcp1	A	T	14: 75,437,841 (GRCm39)	T84S	probably benign	Het
Lipi	G	A	16: 75,347,087 (GRCm39)	T444I	probably damaging	Het
Lrguk	A	T	6: 34,048,003 (GRCm39)	E316V	probably damaging	Het
Lypd1	G	A	1: 125,838,272 (GRCm39)		probably benign	Het
Med12l	A	T	3: 59,169,731 (GRCm39)	K1632*	probably null	Het
Mrgpra9	A	T	7: 46,885,583 (GRCm39)	M28K	probably benign	Het
Mylk	A	G	16: 34,774,023 (GRCm39)	K1291E	probably benign	Het
Nek4	T	A	14: 30,675,880 (GRCm39)	W72R	probably damaging	Het
Nudt8	T	C	19: 4,051,899 (GRCm39)	V170A	probably damaging	Het
Oosp3	T	A	19: 11,676,733 (GRCm39)	Y31N	probably benign	Het
Padi2	A	T	4: 140,665,241 (GRCm39)	R449W	probably damaging	Het
Pcf11	G	T	7: 92,311,087 (GRCm39)	N300K	probably damaging	Het
Pcsk5	T	C	19: 17,558,508 (GRCm39)	D633G	possibly damaging	Het
Phlpp2	T	A	8: 110,634,232 (GRCm39)	W271R	probably damaging	Het
Pikfyve	T	C	1: 65,292,512 (GRCm39)	V1276A	probably benign	Het
Pkhd1l1	A	T	15: 44,343,050 (GRCm39)	N176Y	probably damaging	Het
Pop5	T	G	5: 115,376,271 (GRCm39)	V33G	possibly damaging	Het
Prkag2	A	G	5: 25,152,580 (GRCm39)	F175L	possibly damaging	Het
Ptpn22	T	A	3: 103,781,337 (GRCm39)	D79E	possibly damaging	Het
Rab32	T	G	10: 10,426,577 (GRCm39)	D123A	probably damaging	Het
Rnpc3	T	C	3: 113,402,009 (GRCm39)	K513E	possibly damaging	Het
Senp1	A	T	15: 97,957,825 (GRCm39)	F358I	possibly damaging	Het
Sft2d2	A	G	1: 165,012,647 (GRCm39)	L83P	probably damaging	Het
Slc9c1	G	A	16: 45,400,613 (GRCm39)	R741H	probably damaging	Het
Smad4	A	T	18: 73,782,877 (GRCm39)	Y352*	probably null	Het
Tamm41	T	A	6: 114,993,056 (GRCm39)	Q232H	probably benign	Het
Tbx6	T	A	7: 126,382,055 (GRCm39)	L131Q	probably damaging	Het
Trappc10	T	C	10: 78,045,313 (GRCm39)		probably benign	Het
Trp53bp1	C	A	2: 121,034,964 (GRCm39)	A108S	probably benign	Het
Tut7	T	C	13: 59,948,470 (GRCm39)	Y215C	probably damaging	Het
Unc13b	G	A	4: 43,091,266 (GRCm39)	V31M	probably damaging	Het
Usp24	T	C	4: 106,258,177 (GRCm39)	M1525T	possibly damaging	Het
Vax2	G	A	6: 83,688,252 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,839,104 (GRCm39)	I2147L	probably benign	Het
Zbtb7a	C	A	10: 80,980,244 (GRCm39)	A146E	probably benign	Het
Zfp287	A	G	11: 62,618,395 (GRCm39)	L157P	probably damaging	Het

Other mutations in Hip1r

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Hip1r	APN	5	124,127,798 (GRCm39)	critical splice donor site	probably null
IGL01771:Hip1r	APN	5	124,137,606 (GRCm39)	missense	possibly damaging	0.95
IGL01804:Hip1r	APN	5	124,139,613 (GRCm39)	critical splice donor site	probably null
IGL02100:Hip1r	APN	5	124,137,006 (GRCm39)	unclassified	probably benign
IGL02139:Hip1r	APN	5	124,134,307 (GRCm39)	missense	probably damaging	1.00
IGL02321:Hip1r	APN	5	124,137,953 (GRCm39)	missense	probably damaging	0.99
IGL02562:Hip1r	APN	5	124,129,586 (GRCm39)	unclassified	probably benign
IGL02745:Hip1r	APN	5	124,129,002 (GRCm39)	splice site	probably null
IGL02798:Hip1r	APN	5	124,132,775 (GRCm39)	unclassified	probably benign
IGL03365:Hip1r	APN	5	124,138,230 (GRCm39)	missense	probably damaging	1.00
R0172:Hip1r	UTSW	5	124,135,003 (GRCm39)	missense	possibly damaging	0.47
R0546:Hip1r	UTSW	5	124,137,114 (GRCm39)	missense	possibly damaging	0.89
R0799:Hip1r	UTSW	5	124,135,004 (GRCm39)	missense	probably benign	0.00
R1588:Hip1r	UTSW	5	124,134,638 (GRCm39)	missense	probably damaging	0.98
R1590:Hip1r	UTSW	5	124,140,203 (GRCm39)	missense	probably benign	0.00
R1675:Hip1r	UTSW	5	124,132,883 (GRCm39)	missense	probably damaging	1.00
R1801:Hip1r	UTSW	5	124,136,871 (GRCm39)	missense	probably benign
R1818:Hip1r	UTSW	5	124,134,018 (GRCm39)	critical splice donor site	probably null
R1852:Hip1r	UTSW	5	124,129,568 (GRCm39)	missense	probably benign	0.10
R1936:Hip1r	UTSW	5	124,134,134 (GRCm39)	missense	probably damaging	1.00
R1954:Hip1r	UTSW	5	124,139,907 (GRCm39)	missense	probably damaging	0.96
R1989:Hip1r	UTSW	5	124,127,761 (GRCm39)	missense	probably damaging	1.00
R2105:Hip1r	UTSW	5	124,138,267 (GRCm39)	missense	probably damaging	0.96
R2414:Hip1r	UTSW	5	124,139,306 (GRCm39)	missense	probably damaging	1.00
R2909:Hip1r	UTSW	5	124,138,656 (GRCm39)	splice site	probably null
R3125:Hip1r	UTSW	5	124,138,204 (GRCm39)	missense	probably benign	0.20
R3401:Hip1r	UTSW	5	124,135,046 (GRCm39)	missense	probably damaging	1.00
R3402:Hip1r	UTSW	5	124,135,046 (GRCm39)	missense	probably damaging	1.00
R3889:Hip1r	UTSW	5	124,139,854 (GRCm39)	nonsense	probably null
R4212:Hip1r	UTSW	5	124,137,953 (GRCm39)	missense	probably benign	0.06
R4421:Hip1r	UTSW	5	124,135,925 (GRCm39)	missense	possibly damaging	0.66
R4422:Hip1r	UTSW	5	124,135,069 (GRCm39)	missense	possibly damaging	0.93
R4713:Hip1r	UTSW	5	124,128,043 (GRCm39)	missense	probably benign	0.02
R6837:Hip1r	UTSW	5	124,136,928 (GRCm39)	missense	possibly damaging	0.63
R7171:Hip1r	UTSW	5	124,134,007 (GRCm39)	missense	probably benign	0.02
R7212:Hip1r	UTSW	5	124,111,845 (GRCm39)	missense	possibly damaging	0.91
R7251:Hip1r	UTSW	5	124,132,813 (GRCm39)	missense	probably damaging	1.00
R7319:Hip1r	UTSW	5	124,137,174 (GRCm39)	missense	probably damaging	1.00
R7432:Hip1r	UTSW	5	124,129,829 (GRCm39)	missense	probably benign	0.05
R7592:Hip1r	UTSW	5	124,136,036 (GRCm39)	missense	probably benign	0.21
R7708:Hip1r	UTSW	5	124,135,532 (GRCm39)	missense	possibly damaging	0.82
R7773:Hip1r	UTSW	5	124,139,504 (GRCm39)	missense	probably benign	0.00
R8132:Hip1r	UTSW	5	124,135,290 (GRCm39)	missense	probably damaging	1.00
R8804:Hip1r	UTSW	5	124,139,575 (GRCm39)	missense	possibly damaging	0.70
R8882:Hip1r	UTSW	5	124,140,025 (GRCm39)	missense	probably damaging	1.00
R9643:Hip1r	UTSW	5	124,139,319 (GRCm39)	missense	probably damaging	1.00
R9650:Hip1r	UTSW	5	124,135,357 (GRCm39)	critical splice donor site	probably null
R9695:Hip1r	UTSW	5	124,139,916 (GRCm39)	missense	possibly damaging	0.95
Z1088:Hip1r	UTSW	5	124,137,195 (GRCm39)	splice site	probably null
Z1176:Hip1r	UTSW	5	124,135,073 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGACACAAAACTGCATGTCC -3'
(R):5'- GGAACTTTTAGCTGTGGCAAC -3'

Sequencing Primer
(F):5'- CTTGCATGATGTGACAAGGCCAC -3'
(R):5'- TGGCAACAGACCCTCCTGTATG -3'

Posted On

2014-08-25