Mutagenetix > Incidental Mutation

Incidental Mutation 'R5292:Hhipl1'

405212

Institutional Source

Beutler Lab

Gene Symbol

Hhipl1

Ensembl Gene

ENSMUSG00000021260

Gene Name

hedgehog interacting protein-like 1

Synonyms

1600002O04Rik

MMRRC Submission

042875-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5292 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

108272100-108294559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108294037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 648 (T648A)

Ref Sequence

ENSEMBL: ENSMUSP00000021685 (fasta)

Gene Model

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

AlphaFold

Q14DK5

Predicted Effect

probably benign
Transcript: ENSMUST00000021685
AA Change: T648A

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

SMART Domains

Protein: ENSMUSP00000021685
Gene: ENSMUSG00000021260
AA Change: T648A

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	G	8: 25,354,467 (GRCm39)	V641A	possibly damaging	Het
Apob	A	T	12: 8,055,912 (GRCm39)	M1465L	probably benign	Het
Astn1	T	C	1: 158,407,933 (GRCm39)		probably null	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Col22a1	T	C	15: 71,842,185 (GRCm39)	Y433C	probably damaging	Het
Crtc3	T	C	7: 80,268,358 (GRCm39)	T154A	possibly damaging	Het
Dcc	T	C	18: 71,439,159 (GRCm39)	Y1241C	probably damaging	Het
Depdc1b	T	C	13: 108,510,376 (GRCm39)	V296A	probably damaging	Het
Gata3	A	G	2: 9,873,685 (GRCm39)	S270P	probably damaging	Het
Gcm1	T	C	9: 77,968,708 (GRCm39)	F136S	probably damaging	Het
Gfpt1	A	G	6: 87,053,237 (GRCm39)		probably null	Het
Gm5174	G	T	10: 86,492,562 (GRCm39)		noncoding transcript	Het
Hr	C	A	14: 70,809,432 (GRCm39)	Q1177K	probably damaging	Het
Hrnr	T	C	3: 93,239,199 (GRCm39)	S3146P	unknown	Het
Igkv10-94	C	T	6: 68,681,582 (GRCm39)	G86E	probably damaging	Het
Krt80	G	A	15: 101,250,066 (GRCm39)	R222W	probably damaging	Het
Lrch3	T	C	16: 32,796,177 (GRCm39)	Y354H	probably damaging	Het
Or10g1	A	T	14: 52,647,902 (GRCm39)	N142K	possibly damaging	Het
Or3a1b	T	A	11: 74,012,877 (GRCm39)	F254Y	probably damaging	Het
Or5w1b	T	A	2: 87,476,339 (GRCm39)	N43Y	probably damaging	Het
Osbpl7	A	G	11: 96,958,779 (GRCm39)	D932G	probably benign	Het
Pakap	T	G	4: 57,855,356 (GRCm39)	S471R	probably damaging	Het
Palmd	T	C	3: 116,717,393 (GRCm39)	E368G	probably benign	Het
Peg3	T	A	7: 6,711,259 (GRCm39)	D1321V	probably damaging	Het
Pkhd1l1	A	T	15: 44,392,962 (GRCm39)	I1766F	probably damaging	Het
Polq	A	G	16: 36,881,745 (GRCm39)	E1303G	probably damaging	Het
Ppie	A	G	4: 123,033,701 (GRCm39)	Y9H	probably damaging	Het
Ptprz1	A	G	6: 23,002,581 (GRCm39)	N1557S	probably benign	Het
Rnf40	T	C	7: 127,195,120 (GRCm39)	V411A	possibly damaging	Het
Rtn4	T	C	11: 29,657,924 (GRCm39)	F577L	probably benign	Het
Sacs	A	G	14: 61,449,432 (GRCm39)	Y3826C	probably damaging	Het
Slc32a1	A	G	2: 158,453,307 (GRCm39)	D49G	probably damaging	Het
Slc37a2	A	T	9: 37,150,453 (GRCm39)	C167*	probably null	Het
Slc5a1	G	T	5: 33,315,585 (GRCm39)	V535F	probably benign	Het
Smoc2	A	G	17: 14,556,835 (GRCm39)	K95E	probably damaging	Het
Smok3c	A	C	5: 138,063,446 (GRCm39)	Q311P	probably damaging	Het
Spink5	C	A	18: 44,139,521 (GRCm39)	P628Q	probably benign	Het
Spint4	T	C	2: 164,542,779 (GRCm39)	L124S	probably benign	Het
Stard9	A	G	2: 120,529,626 (GRCm39)	K1961R	probably benign	Het
Synpo2	C	A	3: 122,907,709 (GRCm39)	V536L	possibly damaging	Het
Trim24	A	G	6: 37,880,539 (GRCm39)	K146E	probably benign	Het
Usp24	A	G	4: 106,275,460 (GRCm39)	D2245G	probably benign	Het
Vars2	A	G	17: 35,971,678 (GRCm39)	S81P	probably damaging	Het
Zfp39	T	C	11: 58,791,415 (GRCm39)	T91A	probably damaging	Het
Zfp764l1	T	C	7: 126,991,659 (GRCm39)	D97G	possibly damaging	Het
Zfp936	T	A	7: 42,838,759 (GRCm39)	Y75*	probably null	Het
Zkscan5	G	T	5: 145,155,451 (GRCm39)	C374F	probably 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
R5244:Hhipl1	UTSW	12	108,278,393 (GRCm39)	missense	probably damaging	0.99
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'- ACAGCTGGCTCCCTAAGATG -3'
(R):5'- GTCCGCCTATGAACACTTCC -3'

Sequencing Primer
(F):5'- AGACCAGGCCTCTTTCCTTAGG -3'
(R):5'- GCCTATGAACACTTCCACGCG -3'

Posted On

2016-07-22