Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01018:H60c'

53829

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H60c

Ensembl Gene

ENSMUSG00000091618

Gene Name

histocompatibility 60c

Synonyms

Gm9491, 4632413I24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL01018

Quality Score

Status

Chromosome

Chromosomal Location

3206208-3217771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 3210343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 69 (F69V)

Ref Sequence

ENSEMBL: ENSMUSP00000149470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170893] [ENSMUST00000216211]

AlphaFold

B1B213

Predicted Effect

probably benign
Transcript: ENSMUST00000170893
AA Change: F40V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126536
Gene: ENSMUSG00000091618
AA Change: F40V

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214645

Predicted Effect

probably benign
Transcript: ENSMUST00000216211
AA Change: F69V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	G	T	6: 133,271,460 (GRCm39)	R168I	probably benign	Het
5530400C23Rik	A	T	6: 133,271,461 (GRCm39)	R168S	probably benign	Het
Armt1	T	A	10: 4,400,732 (GRCm39)	S160T	probably benign	Het
Armt1	C	T	10: 4,404,237 (GRCm39)		probably benign	Het
Ccdc170	T	C	10: 4,462,788 (GRCm39)	W35R	probably benign	Het
Ccdc170	T	C	10: 4,464,114 (GRCm39)	V31A	probably benign	Het
Ccdc170	G	T	10: 4,464,155 (GRCm39)	A99S	probably benign	Het
Glp2r	C	A	11: 67,600,470 (GRCm39)	V460F	probably benign	Het
Gm21411	C	T	4: 146,977,067 (GRCm39)	S69N	possibly damaging	Het
Gm21411	T	C	4: 146,977,034 (GRCm39)	Q80R	probably benign	Het
Gm21738	G	A	14: 19,418,856 (GRCm38)	P24L	probably benign	Het
H2-M10.6	C	T	17: 37,123,112 (GRCm39)	A15V	probably benign	Het
Ipcef1	C	T	10: 6,869,968 (GRCm39)	R144Q	probably damaging	Het
Ipcef1	G	A	10: 6,840,551 (GRCm39)	A382V	probably benign	Het
Mapk8ip3	T	G	17: 25,118,693 (GRCm39)		probably benign	Het
Mthfd1l	T	C	10: 3,982,345 (GRCm39)		probably benign	Het
Mthfd1l	T	C	10: 3,928,708 (GRCm39)	V100A	probably benign	Het
Mthfd1l	T	C	10: 3,957,800 (GRCm39)	V279A	probably benign	Het
Mtrf1l	A	G	10: 5,764,180 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,957,613 (GRCm39)	E1450G	probably damaging	Het
Obscn	C	T	11: 59,018,895 (GRCm39)	V973M	probably damaging	Het
Oprm1	T	C	10: 6,987,170 (GRCm39)		probably benign	Het
Or6p1	G	A	1: 174,258,908 (GRCm39)	V305I	probably benign	Het
Pou5f2	A	G	13: 78,174,057 (GRCm39)		probably benign	Het
Ralgapa2	G	A	2: 146,252,113 (GRCm39)	H891Y	probably benign	Het
Ralgapa2	T	G	2: 146,252,112 (GRCm39)	H806P	probably benign	Het
Rmnd1	A	G	10: 4,377,392 (GRCm39)	W96R	probably benign	Het
Rmnd1	A	T	10: 4,377,290 (GRCm39)	S130T	probably benign	Het
Spata31e2	T	C	1: 26,721,991 (GRCm39)	E1063G	probably damaging	Het
Speer4a3	G	T	5: 26,155,721 (GRCm39)	H208N	probably benign	Het
Trappc12	A	C	12: 28,741,853 (GRCm39)		probably benign	Het
Ulbp3	G	A	10: 3,075,031 (GRCm39)		noncoding transcript	Het
Ulbp3	C	T	10: 3,075,193 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,070,231 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,070,209 (GRCm39)		noncoding transcript	Het
Vip	A	G	10: 5,592,480 (GRCm39)	D40G	probably benign	Het
Vmn2r125	C	A	4: 156,703,194 (GRCm39)	Q191K	probably benign	Het
Vmn2r125	A	C	4: 156,703,195 (GRCm39)	Q191P	probably benign	Het
Vmn2r125	A	T	4: 156,703,332 (GRCm39)	T237S	probably benign	Het
Vmn2r125	A	G	4: 156,703,140 (GRCm39)	N173D	probably damaging	Het
Vmn2r125	T	C	4: 156,702,907 (GRCm39)		probably benign	Het
Vmn2r125	T	A	4: 156,703,521 (GRCm39)	L300M	probably benign	Het
Vmn2r125	C	T	4: 156,703,333 (GRCm39)	T237I	probably benign	Het
Vmn2r129	C	A	4: 156,690,730 (GRCm39)		noncoding transcript	Het
Vmn2r129	A	T	4: 156,690,441 (GRCm39)		noncoding transcript	Het
Vmn2r129	G	A	4: 156,686,900 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	C	4: 156,687,885 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	C	4: 156,686,558 (GRCm39)		noncoding transcript	Het
Vmn2r40	G	A	7: 8,911,175 (GRCm39)	S706F	probably damaging	Het
Zfp14	T	A	7: 29,737,526 (GRCm39)	R486S	probably damaging	Het

Other mutations in H60c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:H60c	APN	10	3,209,766 (GRCm39)	missense	probably benign	0.00
IGL02089:H60c	APN	10	3,209,826 (GRCm39)	missense	possibly damaging	0.94
IGL03221:H60c	APN	10	3,209,799 (GRCm39)	nonsense	probably null
R0376:H60c	UTSW	10	3,210,435 (GRCm39)	splice site	probably benign
R1456:H60c	UTSW	10	3,210,307 (GRCm39)	missense	possibly damaging	0.90
R1459:H60c	UTSW	10	3,210,240 (GRCm39)	missense	probably benign	0.27
R1737:H60c	UTSW	10	3,209,914 (GRCm39)	missense	possibly damaging	0.89
R2041:H60c	UTSW	10	3,209,972 (GRCm39)	missense	probably damaging	1.00
R3431:H60c	UTSW	10	3,210,382 (GRCm39)	missense	possibly damaging	0.66
R4597:H60c	UTSW	10	3,209,968 (GRCm39)	missense	possibly damaging	0.82
R5186:H60c	UTSW	10	3,209,273 (GRCm39)	splice site	probably null
R6658:H60c	UTSW	10	3,210,270 (GRCm39)	missense	possibly damaging	0.95
R7516:H60c	UTSW	10	3,209,746 (GRCm39)	nonsense	probably null
R7546:H60c	UTSW	10	3,209,907 (GRCm39)	missense	probably damaging	0.97
R8067:H60c	UTSW	10	3,209,338 (GRCm39)	missense	unknown
R8192:H60c	UTSW	10	3,209,781 (GRCm39)	missense	probably benign	0.42
R8696:H60c	UTSW	10	3,210,265 (GRCm39)	missense	possibly damaging	0.59
R8887:H60c	UTSW	10	3,217,255 (GRCm39)	missense	probably benign	0.34

Posted On

2013-06-28