Mutagenetix > Incidental Mutation

Incidental Mutation 'R4927:Hhipl1'

380925

Institutional Source

Beutler Lab

Gene Symbol

Hhipl1

Ensembl Gene

ENSMUSG00000021260

Gene Name

hedgehog interacting protein-like 1

Synonyms

1600002O04Rik

MMRRC Submission

042528-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108272100-108294559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108278203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 177 (L177P)

Ref Sequence

ENSEMBL: ENSMUSP00000021685 (fasta)

Gene Model

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

AlphaFold

Q14DK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000021685
AA Change: L177P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021685
Gene: ENSMUSG00000021260
AA Change: L177P

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

0.7033

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (76/78)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adamts2	T	A	11: 50,694,639 (GRCm39)	L1142*	probably null	Het
Arl13b	C	A	16: 62,622,150 (GRCm39)	G381V	probably damaging	Het
Ash1l	G	T	3: 88,892,641 (GRCm39)	V1507F	probably damaging	Het
Babam2	T	A	5: 31,859,408 (GRCm39)	F38I	probably benign	Het
Bend4	T	C	5: 67,557,619 (GRCm39)	Y399C	probably damaging	Het
Btn1a1	A	T	13: 23,644,794 (GRCm39)		probably null	Het
Cacna1g	A	T	11: 94,319,973 (GRCm39)	L1401Q	probably damaging	Het
Ccdc192	C	T	18: 57,863,888 (GRCm39)	Q213*	probably null	Het
Cep192	T	C	18: 67,968,195 (GRCm39)	V893A	probably benign	Het
Cnot10	A	T	9: 114,447,012 (GRCm39)	Y355N	probably damaging	Het
Col6a5	G	C	9: 105,811,163 (GRCm39)	S785R	unknown	Het
Cpa3	A	G	3: 20,276,303 (GRCm39)	L310P	probably damaging	Het
Cux2	A	G	5: 122,015,152 (GRCm39)	I247T	probably benign	Het
Dab1	A	G	4: 104,561,449 (GRCm39)	T245A	probably benign	Het
Dmrta1	A	T	4: 89,579,985 (GRCm39)	D315V	probably damaging	Het
Dnah12	T	A	14: 26,583,762 (GRCm39)	L599*	probably null	Het
Dync1h1	T	C	12: 110,629,289 (GRCm39)	I4231T	possibly damaging	Het
Fat1	T	C	8: 45,476,000 (GRCm39)	V1659A	probably damaging	Het
Flot2	G	A	11: 77,949,888 (GRCm39)	V406M	probably damaging	Het
Galnt2	A	G	8: 125,032,362 (GRCm39)	D75G	probably damaging	Het
Gcnt3	A	T	9: 69,942,464 (GRCm39)	C35S	probably damaging	Het
Gp2	A	G	7: 119,052,118 (GRCm39)	F199L	probably benign	Het
Gramd2b	C	T	18: 56,618,523 (GRCm39)	P244S	probably damaging	Het
Homez	T	C	14: 55,095,264 (GRCm39)	E148G	possibly damaging	Het
Kcnab3	G	A	11: 69,217,572 (GRCm39)	C22Y	possibly damaging	Het
Kcnh8	C	A	17: 53,185,009 (GRCm39)	S430R	probably damaging	Het
Kcnn2	T	C	18: 45,692,798 (GRCm39)	C125R	probably benign	Het
Klhl7	G	A	5: 24,346,185 (GRCm39)	R277Q	possibly damaging	Het
Krt78	A	G	15: 101,855,334 (GRCm39)	S826P	probably benign	Het
Krtap14	T	C	16: 88,622,919 (GRCm39)	Y20C	possibly damaging	Het
Lrcol1	A	G	5: 110,502,163 (GRCm39)		probably null	Het
Lrrc10b	G	A	19: 10,434,226 (GRCm39)	P152S	probably damaging	Het
Lrrn3	C	G	12: 41,503,124 (GRCm39)	D398H	probably damaging	Het
Map3k19	T	C	1: 127,749,932 (GRCm39)	I1140V	probably benign	Het
Mos	G	A	4: 3,871,093 (GRCm39)	T241M	probably damaging	Het
Nol8	A	G	13: 49,807,901 (GRCm39)	E39G	possibly damaging	Het
Olfm1	T	G	2: 28,104,798 (GRCm39)	S212A	probably benign	Het
Or2ak6	T	A	11: 58,592,633 (GRCm39)	F35L	probably damaging	Het
Pip4p2	G	T	4: 14,912,458 (GRCm39)	R189L	probably damaging	Het
Plec	G	T	15: 76,061,162 (GRCm39)	T2947K	probably damaging	Het
Pramel27	A	T	4: 143,578,187 (GRCm39)	Q149L	probably damaging	Het
Rasgrp3	A	G	17: 75,823,350 (GRCm39)	M474V	probably benign	Het
Ryr1	T	C	7: 28,719,408 (GRCm39)	Y4333C	unknown	Het
Scrn2	G	C	11: 96,924,326 (GRCm39)		probably null	Het
Slc22a12	C	A	19: 6,587,791 (GRCm39)	V388L	probably benign	Het
Slc4a11	A	G	2: 130,526,866 (GRCm39)	V754A	probably damaging	Het
Slco2b1	A	G	7: 99,335,195 (GRCm39)	F195S	probably damaging	Het
Slfn9	A	C	11: 82,872,216 (GRCm39)	M840R	possibly damaging	Het
Speer4b	T	C	5: 27,706,263 (GRCm39)	N35D	probably damaging	Het
Taf1d	T	A	9: 15,221,250 (GRCm39)	D185E	probably damaging	Het
Taok2	A	G	7: 126,475,213 (GRCm39)	L245P	probably damaging	Het
Tent4a	A	T	13: 69,651,019 (GRCm39)		probably null	Het
Ticam2	T	C	18: 46,693,846 (GRCm39)	I80M	probably damaging	Het
Tmem268	G	A	4: 63,502,164 (GRCm39)	V331I	probably benign	Het
Tsga10	T	C	1: 37,840,931 (GRCm39)	E425G	probably damaging	Het
Ttc7	A	G	17: 87,654,133 (GRCm39)		probably null	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Unc13a	T	C	8: 72,107,489 (GRCm39)	H601R	probably damaging	Het
Vmn2r102	A	T	17: 19,880,661 (GRCm39)	M1L	probably benign	Het
Vmn2r120	G	T	17: 57,816,125 (GRCm39)	N743K	probably damaging	Het
Wnt6	C	A	1: 74,823,295 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,823,296 (GRCm39)		probably null	Het
Wnt8a	T	A	18: 34,680,525 (GRCm39)	C297S	probably damaging	Het
Zfp786	T	C	6: 47,797,087 (GRCm39)	Q617R	probably benign	Het
Zfp91	A	G	19: 12,753,774 (GRCm39)		probably null	Het
Zw10	T	A	9: 48,979,983 (GRCm39)	F371L	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
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'- TCTATGACGCTGAGGATCCAG -3'
(R):5'- TTCAGGAAGGGCTTCTCCAG -3'

Sequencing Primer
(F):5'- CCTGTGTGAAGATTATTGCCTGGAC -3'
(R):5'- GCATGTACCATTGCAACC -3'

Posted On

2016-04-15