Mutagenetix > Incidental Mutation

Incidental Mutation 'R5244:Hhipl1'

401076

Institutional Source

Beutler Lab

Gene Symbol

Hhipl1

Ensembl Gene

ENSMUSG00000021260

Gene Name

hedgehog interacting protein-like 1

Synonyms

1600002O04Rik

MMRRC Submission

042815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108272100-108294559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108278393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 240 (N240K)

Ref Sequence

ENSEMBL: ENSMUSP00000021685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021685]

AlphaFold

Q14DK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000021685
AA Change: N240K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021685
Gene: ENSMUSG00000021260
AA Change: N240K

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Folate_rec	28	189	2.4e-21	PFAM
Pfam:GSDH	199	532	3e-39	PFAM
low complexity region	619	670	N/A	INTRINSIC
SR	682	785	2.01e-47	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223395

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the glucose/sorbosone dehydrogenase family. The encoded protein also contains a domain that binds folate and reduced folic acid derivatives. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	G	T	9: 53,323,098 (GRCm39)	G45W	probably damaging	Het
Abca13	C	T	11: 9,225,081 (GRCm39)	T520I	probably benign	Het
Adamtsl3	C	T	7: 82,247,277 (GRCm39)	P485L	probably benign	Het
Bbof1	A	C	12: 84,476,847 (GRCm39)	E492A	possibly damaging	Het
Capn11	T	C	17: 45,944,818 (GRCm39)	E483G	probably damaging	Het
Cbs	C	T	17: 31,836,134 (GRCm39)	G438D	probably damaging	Het
Chil6	A	G	3: 106,297,290 (GRCm39)	Y284H	probably damaging	Het
Cops4	C	A	5: 100,681,241 (GRCm39)	Q131K	probably benign	Het
Cul4a	T	C	8: 13,196,566 (GRCm39)	I740T	probably damaging	Het
Cyfip1	C	T	7: 55,574,947 (GRCm39)	T1066I	probably damaging	Het
Dnah7b	T	C	1: 46,273,018 (GRCm39)	L2382P	probably damaging	Het
Ehd3	A	T	17: 74,136,995 (GRCm39)	H388L	probably benign	Het
Fam13a	G	T	6: 58,930,459 (GRCm39)	Y484*	probably null	Het
Gm5117	A	G	8: 32,228,305 (GRCm39)		noncoding transcript	Het
Gulp1	G	A	1: 44,827,613 (GRCm39)	D260N	probably damaging	Het
Hydin	A	T	8: 111,259,451 (GRCm39)	E2474D	possibly damaging	Het
Ifi207	C	T	1: 173,557,503 (GRCm39)	V412I	probably benign	Het
Ighv9-4	T	C	12: 114,263,871 (GRCm39)	I21V	probably benign	Het
Kcnh1	A	T	1: 191,907,184 (GRCm39)	T79S	probably benign	Het
Kpna6	A	G	4: 129,549,221 (GRCm39)		probably null	Het
Lnpk	C	T	2: 74,362,232 (GRCm39)	G262D	probably damaging	Het
Lsm7	T	C	10: 80,688,907 (GRCm39)	E66G	probably benign	Het
Mbd3l1	T	A	9: 18,395,933 (GRCm39)	C19*	probably null	Het
Mfsd6l	T	A	11: 68,448,001 (GRCm39)	L284Q	possibly damaging	Het
Naip5	C	T	13: 100,382,170 (GRCm39)	V180I	probably benign	Het
Or2ag1b	T	A	7: 106,288,396 (GRCm39)	I181F	probably benign	Het
Or2j6	A	T	7: 139,980,051 (GRCm39)	C303S	probably benign	Het
Or4k39	T	A	2: 111,238,899 (GRCm39)		noncoding transcript	Het
Or6d13	T	A	6: 116,518,187 (GRCm39)	Y258N	probably damaging	Het
Or7g22	A	T	9: 19,049,147 (GRCm39)	N286I	probably damaging	Het
Or8g20	T	G	9: 39,395,808 (GRCm39)	H247P	probably damaging	Het
Or8u10	C	G	2: 85,915,300 (GRCm39)	A274P	probably damaging	Het
Pck1	T	A	2: 172,996,656 (GRCm39)	I190N	possibly damaging	Het
Pfkfb3	T	A	2: 11,489,660 (GRCm39)	I209F	probably damaging	Het
Phc1	A	G	6: 122,298,938 (GRCm39)	S677P	probably damaging	Het
Pirb	G	A	7: 3,719,062 (GRCm39)	A609V	probably benign	Het
Plag1	A	T	4: 3,903,887 (GRCm39)	S435T	probably benign	Het
Plscr2	C	G	9: 92,173,102 (GRCm39)	L215V	probably benign	Het
Pnma8a	A	G	7: 16,695,248 (GRCm39)	S368G	probably damaging	Het
Polr2b	A	G	5: 77,490,847 (GRCm39)		probably benign	Het
Pthlh	T	C	6: 147,158,651 (GRCm39)	Y103C	probably damaging	Het
Ptprq	A	G	10: 107,422,556 (GRCm39)	V1612A	possibly damaging	Het
Rprd2	T	A	3: 95,697,494 (GRCm39)	I85L	possibly damaging	Het
Slc27a2	T	C	2: 126,420,775 (GRCm39)	V422A	probably benign	Het
Slc29a1	T	C	17: 45,899,339 (GRCm39)		probably benign	Het
Slc36a4	A	T	9: 15,645,574 (GRCm39)	I334F	probably benign	Het
Slc4a10	T	A	2: 62,119,069 (GRCm39)	S761R	probably damaging	Het
Spa17	T	A	9: 37,523,285 (GRCm39)	M1L	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stk19	A	G	17: 35,051,046 (GRCm39)	L72P	probably damaging	Het
Trhde	T	C	10: 114,636,986 (GRCm39)	M74V	probably benign	Het
Trim37	C	T	11: 87,109,083 (GRCm39)	H937Y	probably benign	Het
Ttc7b	A	G	12: 100,314,269 (GRCm39)	L46P	probably damaging	Het
Ttll4	T	C	1: 74,735,607 (GRCm39)	V1005A	probably benign	Het
Ugt2b36	T	C	5: 87,239,765 (GRCm39)	T207A	probably damaging	Het
Unc13c	C	T	9: 73,433,233 (GRCm39)		probably null	Het
Vmn1r221	T	C	13: 23,401,808 (GRCm39)		noncoding transcript	Het
Vmn2r101	T	C	17: 19,831,788 (GRCm39)	S595P	probably damaging	Het
Wnt10a	T	C	1: 74,842,454 (GRCm39)	L310P	probably damaging	Het
Yif1b	G	A	7: 28,943,866 (GRCm39)	A115T	probably damaging	Het
Zfp219	C	A	14: 52,245,999 (GRCm39)	R331L	possibly damaging	Het

Other mutations in Hhipl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
lemon_drops	UTSW	12	108,278,203 (GRCm39)	missense	probably damaging	1.00
R1474_Hhipl1_947	UTSW	12	108,277,996 (GRCm39)	missense	probably damaging	1.00
Rock_candy	UTSW	12	108,277,948 (GRCm39)	missense	probably damaging	1.00
R0091:Hhipl1	UTSW	12	108,288,156 (GRCm39)	splice site	probably benign
R0180:Hhipl1	UTSW	12	108,294,329 (GRCm39)	missense	probably damaging	1.00
R0610:Hhipl1	UTSW	12	108,285,661 (GRCm39)	nonsense	probably null
R0962:Hhipl1	UTSW	12	108,293,980 (GRCm39)	missense	probably benign	0.02
R1170:Hhipl1	UTSW	12	108,277,952 (GRCm39)	nonsense	probably null
R1474:Hhipl1	UTSW	12	108,277,996 (GRCm39)	missense	probably damaging	1.00
R1878:Hhipl1	UTSW	12	108,286,319 (GRCm39)	missense	possibly damaging	0.93
R2001:Hhipl1	UTSW	12	108,288,118 (GRCm39)	missense	possibly damaging	0.90
R2103:Hhipl1	UTSW	12	108,293,977 (GRCm39)	missense	probably benign	0.04
R2132:Hhipl1	UTSW	12	108,277,949 (GRCm39)	missense	probably damaging	1.00
R2342:Hhipl1	UTSW	12	108,284,721 (GRCm39)	missense	probably damaging	1.00
R2408:Hhipl1	UTSW	12	108,284,806 (GRCm39)	missense	probably benign	0.05
R3431:Hhipl1	UTSW	12	108,277,948 (GRCm39)	missense	probably damaging	1.00
R3432:Hhipl1	UTSW	12	108,277,948 (GRCm39)	missense	probably damaging	1.00
R3741:Hhipl1	UTSW	12	108,284,976 (GRCm39)	missense	probably damaging	1.00
R3802:Hhipl1	UTSW	12	108,278,566 (GRCm39)	missense	probably benign
R4744:Hhipl1	UTSW	12	108,286,238 (GRCm39)	missense	possibly damaging	0.95
R4760:Hhipl1	UTSW	12	108,286,336 (GRCm39)	missense	probably damaging	0.99
R4927:Hhipl1	UTSW	12	108,278,203 (GRCm39)	missense	probably damaging	1.00
R5206:Hhipl1	UTSW	12	108,278,437 (GRCm39)	missense	probably damaging	1.00
R5292:Hhipl1	UTSW	12	108,294,037 (GRCm39)	missense	probably benign
R5445:Hhipl1	UTSW	12	108,294,467 (GRCm39)	missense	probably damaging	0.97
R6248:Hhipl1	UTSW	12	108,284,964 (GRCm39)	missense	probably benign	0.01
R9395:Hhipl1	UTSW	12	108,285,009 (GRCm39)	missense	probably damaging	1.00
R9451:Hhipl1	UTSW	12	108,294,100 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GAGAACCTCAACTCGAACCTGG -3'
(R):5'- AGCCATGATCCACTGTGTTC -3'

Sequencing Primer
(F):5'- AACCTGGGCCGTGTAGTG -3'
(R):5'- ATGATCCACTGTGTTCTCGTCAC -3'

Posted On

2016-07-06