Mutagenetix > Incidental Mutation

Incidental Mutation 'R3431:H60c'

268119

Institutional Source

Beutler Lab

Gene Symbol

H60c

Ensembl Gene

ENSMUSG00000091618

Gene Name

histocompatibility 60c

Synonyms

Gm9491, 4632413I24Rik

MMRRC Submission

040649-MU

Accession Numbers

Essential gene?

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

Stock #

R3431 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3206208-3217771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3210382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 56 (R56S)

Ref Sequence

ENSEMBL: ENSMUSP00000149470 (fasta)

Gene Model

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

AlphaFold

B1B213

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170893
AA Change: R27S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126536
Gene: ENSMUSG00000091618
AA Change: R27S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214645

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216211
AA Change: R56S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,746,560 (GRCm39)	H140R	possibly damaging	Het
Adamts3	A	G	5: 89,855,312 (GRCm39)		probably benign	Het
Apob	T	G	12: 8,060,778 (GRCm39)	F3054V	probably damaging	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Calcb	A	T	7: 114,319,064 (GRCm39)	R30W	probably damaging	Het
Cbl	T	C	9: 44,062,743 (GRCm39)	*914W	probably null	Het
Chd4	A	G	6: 125,097,523 (GRCm39)		probably benign	Het
Clec4a2	A	T	6: 123,116,370 (GRCm39)		probably null	Het
Crb2	T	A	2: 37,682,229 (GRCm39)	V870E	probably benign	Het
Cyp2c39	A	G	19: 39,525,306 (GRCm39)	E203G	probably damaging	Het
Dhrs7	A	T	12: 72,711,501 (GRCm39)	L12Q	probably damaging	Het
Dnah5	A	G	15: 28,295,413 (GRCm39)	Y1382C	probably benign	Het
Efs	C	T	14: 55,157,681 (GRCm39)	R117Q	probably damaging	Het
Evl	T	C	12: 108,614,567 (GRCm39)		probably benign	Het
Fbxo16	T	C	14: 65,531,233 (GRCm39)	F46L	probably damaging	Het
Fsip2	A	G	2: 82,822,354 (GRCm39)	E6029G	possibly damaging	Het
Gm20775	A	T	Y: 10,641,956 (GRCm39)		noncoding transcript	Het
Gm4924	T	A	10: 82,214,864 (GRCm39)	Y887*	probably null	Het
Hbq1a	T	G	11: 32,250,715 (GRCm39)	S133A	probably benign	Het
Hhipl1	A	G	12: 108,277,948 (GRCm39)	E92G	probably damaging	Het
Knl1	A	T	2: 118,892,843 (GRCm39)	E46D	probably damaging	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mmp21	T	C	7: 133,280,479 (GRCm39)	T164A	probably benign	Het
Mthfd2	T	C	6: 83,288,330 (GRCm39)	R142G	probably benign	Het
Mup4	T	G	4: 59,959,192 (GRCm39)		probably null	Het
Npas3	A	T	12: 54,115,832 (GRCm39)	Q900L	probably damaging	Het
Nr1h3	T	C	2: 91,022,205 (GRCm39)	D141G	probably damaging	Het
Rap2a	G	T	14: 120,741,170 (GRCm39)	A158S	possibly damaging	Het
Rttn	A	G	18: 89,113,695 (GRCm39)	T1705A	probably benign	Het
Ryr3	A	T	2: 112,486,876 (GRCm39)	V3834E	probably damaging	Het
Taf5	A	C	19: 47,064,272 (GRCm39)	K405T	probably damaging	Het
Tbc1d19	T	C	5: 54,005,548 (GRCm39)		probably benign	Het
Tmem232	A	T	17: 65,572,297 (GRCm39)		probably null	Het
Tssk4	A	G	14: 55,889,152 (GRCm39)	N226S	probably damaging	Het
Tulp4	C	A	17: 6,257,239 (GRCm39)	S311R	probably benign	Het
Uggt1	C	A	1: 36,249,140 (GRCm39)	E267*	probably null	Het
Usp34	T	C	11: 23,320,466 (GRCm39)	I917T	possibly 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
R2041:H60c	UTSW	10	3,209,972 (GRCm39)	missense	probably damaging	1.00
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'- ATAATTCAGCAGCCCCTTCC -3'
(R):5'- TGGCACAGAATGAAGGTTCC -3'

Sequencing Primer
(F):5'- AGCCCCTTCCTTCACGAG -3'
(R):5'- CCAGAAGGTGGTGGACTTC -3'

Posted On

2015-02-18