Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02812:Hgh1'

360623

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hgh1

Ensembl Gene

ENSMUSG00000022554

Gene Name

HGH1 homolog

Synonyms

Fam203a, Brp16, D15Ertd741e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL02812

Quality Score

Status

Chromosome

Chromosomal Location

76253098-76255637 bp(+) (GRCm39)

Type of Mutation

splice site (2400 bp from exon)

DNA Base Change (assembly)

T to A at 76253754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000071120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023213] [ENSMUST00000071119] [ENSMUST00000208833]

AlphaFold

Q8C3I8

Predicted Effect

probably damaging
Transcript: ENSMUST00000023213
AA Change: L200H

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

SMART Domains

Protein: ENSMUSP00000023213
Gene: ENSMUSG00000022554
AA Change: L200H

Domain	Start	End	E-Value	Type
low complexity region	35	56	N/A	INTRINSIC
low complexity region	69	91	N/A	INTRINSIC
Pfam:DUF383	119	294	4e-57	PFAM
Pfam:DUF384	299	353	6.2e-22	PFAM
low complexity region	357	385	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000071119

SMART Domains

Protein: ENSMUSP00000071120
Gene: ENSMUSG00000060794

Domain	Start	End	E-Value	Type
S_TKc	27	302	1.23e-82	SMART
low complexity region	341	358	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000208833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230436

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 79,841,881 (GRCm39)	V1005L	possibly damaging	Het
Abcc9	A	G	6: 142,643,516 (GRCm39)	S11P	possibly damaging	Het
Acsl1	A	T	8: 46,945,873 (GRCm39)	E2V	possibly damaging	Het
Aox3	G	A	1: 58,205,055 (GRCm39)	V757I	probably benign	Het
Aqp4	T	C	18: 15,530,632 (GRCm39)		probably null	Het
Arhgef7	A	G	8: 11,831,245 (GRCm39)		probably benign	Het
Armc9	T	A	1: 86,172,293 (GRCm39)	D2E	probably damaging	Het
Celsr2	G	A	3: 108,321,429 (GRCm39)	P461L	probably benign	Het
Cep170	T	C	1: 176,570,080 (GRCm39)	D1339G	probably damaging	Het
Clk1	T	A	1: 58,453,635 (GRCm39)	N317I	probably damaging	Het
Comp	G	A	8: 70,829,337 (GRCm39)	G305S	possibly damaging	Het
Depdc5	G	A	5: 33,050,712 (GRCm39)		probably benign	Het
Dse	T	C	10: 34,059,712 (GRCm39)	E131G	probably damaging	Het
Ecpas	T	A	4: 58,864,343 (GRCm39)		probably benign	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Epha2	A	G	4: 141,046,230 (GRCm39)		probably benign	Het
Fam243	A	G	16: 92,117,616 (GRCm39)	I224T	probably damaging	Het
Fmnl1	A	G	11: 103,087,592 (GRCm39)		probably benign	Het
Gbp9	T	C	5: 105,231,624 (GRCm39)	N321D	probably damaging	Het
Gm5884	A	G	6: 128,622,738 (GRCm39)		noncoding transcript	Het
Gp2	A	T	7: 119,051,452 (GRCm39)	N254K	probably benign	Het
Inpp5f	A	G	7: 128,284,030 (GRCm39)	N543S	probably damaging	Het
Ints7	T	C	1: 191,351,853 (GRCm39)	V854A	probably damaging	Het
Itgb1bp1	T	G	12: 21,320,879 (GRCm39)		probably benign	Het
Lrrtm4	A	T	6: 79,998,947 (GRCm39)	N120Y	probably damaging	Het
Map3k5	T	C	10: 19,900,782 (GRCm39)	S319P	probably damaging	Het
Mc4r	A	G	18: 66,992,318 (GRCm39)	L265S	probably damaging	Het
Morc1	T	C	16: 48,378,869 (GRCm39)		probably benign	Het
Mre11a	T	A	9: 14,701,966 (GRCm39)		probably null	Het
Msh4	T	C	3: 153,607,037 (GRCm39)		probably benign	Het
Mterf4	A	G	1: 93,232,455 (GRCm39)	L132P	probably damaging	Het
Myo15a	A	T	11: 60,368,005 (GRCm39)	E255V	probably benign	Het
Myot	T	C	18: 44,479,127 (GRCm39)	V288A	probably damaging	Het
Nipa2	T	C	7: 55,592,766 (GRCm39)	Y53C	probably damaging	Het
Npas1	T	A	7: 16,190,041 (GRCm39)	I502F	probably damaging	Het
Or12j5	C	T	7: 140,083,533 (GRCm39)	V280M	probably damaging	Het
Or2y1d	T	A	11: 49,321,749 (GRCm39)	W149R	probably damaging	Het
Osbp2	A	G	11: 3,664,637 (GRCm39)	V565A	probably benign	Het
Otof	A	G	5: 30,531,426 (GRCm39)	S1666P	probably benign	Het
Per3	A	C	4: 151,108,927 (GRCm39)	S476A	probably damaging	Het
Pja2	T	C	17: 64,604,789 (GRCm39)	N465D	probably damaging	Het
Pla2g4c	T	C	7: 13,082,290 (GRCm39)	F512S	probably damaging	Het
Plcd4	T	A	1: 74,596,967 (GRCm39)	L403Q	probably damaging	Het
Psg26	T	C	7: 18,209,080 (GRCm39)	T443A	probably benign	Het
Snapc4	T	A	2: 26,259,384 (GRCm39)	T589S	probably benign	Het
Spag8	G	A	4: 43,651,755 (GRCm39)	R404W	probably damaging	Het
Tdrd7	A	G	4: 45,994,406 (GRCm39)	D268G	probably benign	Het
Tfap2d	A	G	1: 19,213,151 (GRCm39)	H325R	possibly damaging	Het
Vmn1r59	C	T	7: 5,457,176 (GRCm39)	V195I	probably damaging	Het
Vmn1r67	G	A	7: 10,180,945 (GRCm39)	E70K	probably benign	Het
Wdr18	T	A	10: 79,796,898 (GRCm39)	N91K	possibly damaging	Het
Zbtb7b	T	C	3: 89,287,081 (GRCm39)	T463A	probably damaging	Het

Other mutations in Hgh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0893:Hgh1	UTSW	15	76,253,848 (GRCm39)	splice site	probably null
R4854:Hgh1	UTSW	15	76,253,382 (GRCm39)	missense	probably damaging	1.00
R5082:Hgh1	UTSW	15	76,253,752 (GRCm39)	missense	probably benign	0.04
R7136:Hgh1	UTSW	15	76,254,631 (GRCm39)	missense	probably benign
R7157:Hgh1	UTSW	15	76,254,650 (GRCm39)	missense	probably damaging	0.98
R8128:Hgh1	UTSW	15	76,254,581 (GRCm39)	missense	probably damaging	1.00
R8935:Hgh1	UTSW	15	76,254,592 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18