Mutagenetix > Incidental Mutation

Incidental Mutation 'R0962:Hhipl1'

81306

Institutional Source

Beutler Lab

Gene Symbol

Hhipl1

Ensembl Gene

ENSMUSG00000021260

Gene Name

hedgehog interacting protein-like 1

Synonyms

1600002O04Rik

MMRRC Submission

039091-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0962 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

108272100-108294559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108293980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 629 (K629E)

Ref Sequence

ENSEMBL: ENSMUSP00000021685 (fasta)

Gene Model

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

AlphaFold

Q14DK5

Predicted Effect

probably benign
Transcript: ENSMUST00000021685
AA Change: K629E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000021685
Gene: ENSMUSG00000021260
AA Change: K629E

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

0.0898

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.9%
20x: 96.0%

Validation Efficiency

100% (56/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	G	A	11: 84,202,129 (GRCm39)	A196T	probably damaging	Het
Adamtsl4	T	A	3: 95,591,798 (GRCm39)	R97*	probably null	Het
Adgrv1	T	C	13: 81,553,465 (GRCm39)	I5470V	probably benign	Het
Afg3l2	T	C	18: 67,538,497 (GRCm39)	T754A	possibly damaging	Het
Agfg1	T	C	1: 82,864,117 (GRCm39)	F395S	probably damaging	Het
Ahnak	A	G	19: 8,990,212 (GRCm39)		probably benign	Het
Alkbh2	T	C	5: 114,262,014 (GRCm39)	K239E	possibly damaging	Het
Ankmy1	A	T	1: 92,827,290 (GRCm39)	C87*	probably null	Het
Apob	A	G	12: 8,039,191 (GRCm39)	I461V	probably damaging	Het
Arap1	C	T	7: 101,034,121 (GRCm39)	P188S	possibly damaging	Het
Atp12a	G	A	14: 56,605,870 (GRCm39)	E64K	probably damaging	Het
Brca1	A	T	11: 101,416,192 (GRCm39)	H647Q	possibly damaging	Het
Cachd1	A	G	4: 100,840,498 (GRCm39)		probably benign	Het
Cep57	A	T	9: 13,720,039 (GRCm39)	V429D	possibly damaging	Het
Cfap299	T	C	5: 98,714,420 (GRCm39)		probably benign	Het
Dip2a	T	C	10: 76,128,266 (GRCm39)		probably benign	Het
Dmxl2	A	T	9: 54,353,696 (GRCm39)	N757K	probably damaging	Het
Dock7	G	A	4: 98,833,432 (GRCm39)	T1953I	possibly damaging	Het
Ebf3	T	C	7: 136,826,932 (GRCm39)	T111A	probably damaging	Het
Ercc4	T	C	16: 12,948,010 (GRCm39)	I319T	probably damaging	Het
Fat1	T	C	8: 45,486,363 (GRCm39)		probably benign	Het
Gucy2g	C	T	19: 55,198,716 (GRCm39)	W809*	probably null	Het
Hmbox1	A	T	14: 65,134,223 (GRCm39)	S126T	probably benign	Het
Htr1a	A	G	13: 105,580,832 (GRCm39)	N24S	probably benign	Het
Htra3	T	A	5: 35,825,700 (GRCm39)	I185F	probably damaging	Het
Impg1	C	T	9: 80,289,023 (GRCm39)	D345N	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kdm7a	A	G	6: 39,124,128 (GRCm39)	V720A	probably benign	Het
Kirrel3	A	G	9: 34,912,293 (GRCm39)	D212G	possibly damaging	Het
Lgals3bp	A	T	11: 118,283,846 (GRCm39)	*139K	probably null	Het
Lrp11	T	A	10: 7,466,060 (GRCm39)	V82D	probably benign	Het
Mcf2l	T	C	8: 13,051,964 (GRCm39)	Y425H	probably benign	Het
Mfn2	T	C	4: 147,966,658 (GRCm39)	N511S	probably benign	Het
Mical2	T	C	7: 111,979,624 (GRCm39)	S108P	probably damaging	Het
Ms4a6c	C	T	19: 11,448,506 (GRCm39)	T13M	probably benign	Het
Naip2	C	A	13: 100,315,893 (GRCm39)	V296F	probably damaging	Het
Or2d36	T	A	7: 106,747,294 (GRCm39)	F257Y	possibly damaging	Het
Or51a5	A	G	7: 102,771,217 (GRCm39)	V254A	possibly damaging	Het
Or7e175	T	A	9: 20,048,834 (GRCm39)	C141S	probably damaging	Het
P3h2	T	C	16: 25,815,998 (GRCm39)	M172V	probably benign	Het
Pcolce2	T	G	9: 95,552,087 (GRCm39)	N73K	probably benign	Het
Pla2g4d	A	G	2: 120,111,098 (GRCm39)		probably null	Het
Ppfia3	A	G	7: 44,997,146 (GRCm39)		probably benign	Het
Ptprcap	A	G	19: 4,206,463 (GRCm39)	D182G	possibly damaging	Het
Rabgap1	T	C	2: 37,450,481 (GRCm39)		probably benign	Het
Rpain	G	A	11: 70,865,867 (GRCm39)		probably null	Het
Sdk1	C	T	5: 142,147,630 (GRCm39)	T1754I	probably damaging	Het
Stag1	T	A	9: 100,678,880 (GRCm39)	L267Q	probably damaging	Het
Tex9	T	C	9: 72,391,374 (GRCm39)	T92A	probably benign	Het
Trpa1	T	A	1: 14,968,387 (GRCm39)	I460F	possibly damaging	Het
Ttn	A	T	2: 76,780,500 (GRCm39)	Y1084N	probably damaging	Het
Utp6	A	G	11: 79,832,694 (GRCm39)		probably benign	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	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
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
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'- AGCACAGTGCCTGACTGTTAACC -3'
(R):5'- TATGAACACTTCCACGCGACCG -3'

Sequencing Primer
(F):5'- AAGTGCCCGACATTGCTTTAG -3'
(R):5'- CCGATCCGTTCTCGGGTT -3'

Posted On

2013-11-07