Mutagenetix > Incidental Mutation

Incidental Mutation 'R2041:H60c'

224942

Institutional Source

Beutler Lab

Gene Symbol

H60c

Ensembl Gene

ENSMUSG00000091618

Gene Name

histocompatibility 60c

Synonyms

Gm9491, 4632413I24Rik

MMRRC Submission

040048-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R2041 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3206208-3217771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3209972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 105 (G105D)

Ref Sequence

ENSEMBL: ENSMUSP00000149470 (fasta)

Gene Model

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

AlphaFold

B1B213

Predicted Effect

probably damaging
Transcript: ENSMUST00000170893
AA Change: G76D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000126536
Gene: ENSMUSG00000091618
AA Change: G76D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214645

Predicted Effect

probably damaging
Transcript: ENSMUST00000216211
AA Change: G105D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,211 (GRCm39)	D265E	probably damaging	Het
2610021A01Rik	A	G	7: 41,275,403 (GRCm39)	R369G	possibly damaging	Het
Actr3b	T	C	5: 25,965,128 (GRCm39)		probably null	Het
Adamts12	A	T	15: 11,215,821 (GRCm39)	M281L	probably damaging	Het
Aipl1	T	A	11: 71,922,332 (GRCm39)	M126L	possibly damaging	Het
Akap12	C	T	10: 4,306,489 (GRCm39)	P1100S	probably benign	Het
Alox8	T	A	11: 69,088,517 (GRCm39)	H40L	possibly damaging	Het
Anks1	T	A	17: 28,227,388 (GRCm39)	F659L	probably damaging	Het
Asxl3	G	T	18: 22,656,508 (GRCm39)	R1506L	probably benign	Het
Bicd2	A	G	13: 49,495,252 (GRCm39)	T36A	probably benign	Het
Ccar1	A	T	10: 62,601,827 (GRCm39)	L448Q	probably damaging	Het
Ccdc17	T	G	4: 116,456,789 (GRCm39)	N497K	probably damaging	Het
Chek2	T	C	5: 110,996,530 (GRCm39)	I164T	probably damaging	Het
Cntnap5c	T	C	17: 58,411,765 (GRCm39)		probably null	Het
Cntnap5c	T	A	17: 58,505,984 (GRCm39)	D669E	probably benign	Het
Cpsf6	A	G	10: 117,195,033 (GRCm39)	I482T	probably damaging	Het
Csf3	C	T	11: 98,592,483 (GRCm39)	S65L	possibly damaging	Het
Dlc1	A	G	8: 37,049,922 (GRCm39)	Y1049H	probably damaging	Het
Dnah6	T	C	6: 73,050,422 (GRCm39)	D3048G	probably damaging	Het
Eif4g3	T	A	4: 137,832,617 (GRCm39)		probably benign	Het
Epb41l4b	T	C	4: 57,084,070 (GRCm39)	K195R	probably damaging	Het
Epn1	T	C	7: 5,086,874 (GRCm39)	S41P	probably damaging	Het
Fam120a	C	A	13: 49,051,243 (GRCm39)	V721L	probably benign	Het
Fchsd1	T	A	18: 38,100,729 (GRCm39)		probably null	Het
Fer1l6	G	A	15: 58,430,155 (GRCm39)	G194D	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fyb1	A	C	15: 6,674,268 (GRCm39)	T635P	possibly damaging	Het
Gpr153	A	G	4: 152,367,810 (GRCm39)	S554G	probably benign	Het
Grm1	A	G	10: 10,622,347 (GRCm39)	F459L	probably damaging	Het
Ifnlr1	T	A	4: 135,433,148 (GRCm39)	M528K	possibly damaging	Het
Lama4	A	T	10: 38,945,987 (GRCm39)	D790V	probably damaging	Het
Mfsd13b	T	C	7: 120,591,139 (GRCm39)		probably benign	Het
Mis12	T	A	11: 70,916,132 (GRCm39)	I55N	probably damaging	Het
Morn1	T	C	4: 155,175,399 (GRCm39)	Y103H	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Ndst3	C	A	3: 123,465,864 (GRCm39)	G36V	probably benign	Het
Nlrp4a	T	A	7: 26,149,611 (GRCm39)	M406K	probably damaging	Het
Or4p18	T	C	2: 88,232,568 (GRCm39)	T237A	probably damaging	Het
Or51t4	T	A	7: 102,598,170 (GRCm39)	V156E	probably damaging	Het
Or5b106	A	T	19: 13,124,041 (GRCm39)		probably benign	Het
Or7g32	A	T	9: 19,408,131 (GRCm39)	D29V	probably benign	Het
Or9m1	T	C	2: 87,733,141 (GRCm39)	N293S	probably damaging	Het
Pars2	A	G	4: 106,510,814 (GRCm39)	T199A	probably damaging	Het
Plcb4	C	T	2: 135,780,191 (GRCm39)	T172I	probably damaging	Het
Pomgnt2	A	T	9: 121,811,354 (GRCm39)	W476R	probably benign	Het
Psg23	T	A	7: 18,348,703 (GRCm39)	S35C	possibly damaging	Het
Pycr3	T	A	15: 75,791,144 (GRCm39)		probably null	Het
Rab3gap1	T	C	1: 127,865,727 (GRCm39)	V764A	possibly damaging	Het
Rgs2	A	G	1: 143,877,960 (GRCm39)	F80S	probably damaging	Het
Sall1	A	G	8: 89,759,429 (GRCm39)	L225P	probably benign	Het
Setd3	A	G	12: 108,079,651 (GRCm39)	I284T	possibly damaging	Het
Slc4a9	C	T	18: 36,663,846 (GRCm39)	T290I	possibly damaging	Het
Tmem87b	T	C	2: 128,673,509 (GRCm39)	V251A	probably damaging	Het
Ube3b	T	C	5: 114,525,294 (GRCm39)	L39P	probably damaging	Het
Ubr2	C	A	17: 47,296,973 (GRCm39)	R269L	probably damaging	Het
Vrk2	A	T	11: 26,497,914 (GRCm39)	I90K	probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp984	A	T	4: 147,839,796 (GRCm39)	C352S	probably damaging	Het

Other mutations in H60c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:H60c	APN	10	3,210,343 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCAGCAACTGAAATCTACCATG -3'
(R):5'- AAGGGGCTGCTGAATTATTTGC -3'

Sequencing Primer
(F):5'- TGAAATCTACCATGAGGACATTCC -3'
(R):5'- GGGCTGCTGAATTATTTGCATAAAAG -3'

Posted On

2014-08-25