Mutagenetix > Incidental Mutation

Incidental Mutation 'R7936:H60b'

648747

Institutional Source

Beutler Lab

Gene Symbol

H60b

Ensembl Gene

ENSMUSG00000075297

Gene Name

histocompatibility 60b

Synonyms

EG667281

MMRRC Submission

045982-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7936 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22149373-22164748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22162055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 93 (N93K)

Ref Sequence

ENSEMBL: ENSMUSP00000101161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105522] [ENSMUST00000131558] [ENSMUST00000178026]

AlphaFold

B1B212

Predicted Effect

probably benign
Transcript: ENSMUST00000105522
AA Change: N93K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000101161
Gene: ENSMUSG00000075297
AA Change: N93K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
PDB:4G59\|B	29	195	2e-9	PDB
transmembrane domain	211	233	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131558
AA Change: N93K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000117032
Gene: ENSMUSG00000075297
AA Change: N93K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
PDB:4G59\|B	29	195	2e-9	PDB
transmembrane domain	211	233	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178026

SMART Domains

Protein: ENSMUSP00000136032
Gene: ENSMUSG00000053219

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:MHC_I_2	31	202	7.3e-112	PFAM
low complexity region	209	229	N/A	INTRINSIC
transmembrane domain	233	250	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,900,445 (GRCm39)	L438*	probably null	Het
Adamts18	T	A	8: 114,493,760 (GRCm39)	I460F	probably damaging	Het
Api5	C	T	2: 94,268,392 (GRCm39)		probably benign	Het
Arap2	A	G	5: 62,888,048 (GRCm39)	S433P	probably damaging	Het
Arhgap26	T	C	18: 39,338,340 (GRCm39)	Y371H	probably damaging	Het
Asf1b	T	C	8: 84,695,848 (GRCm39)	I163T	probably benign	Het
Cacna2d2	A	G	9: 107,401,326 (GRCm39)	N696S	probably damaging	Het
Carns1	A	C	19: 4,216,152 (GRCm39)	S677A	probably benign	Het
Cd276	G	A	9: 58,448,113 (GRCm39)		probably benign	Het
Cdk8	T	A	5: 146,236,644 (GRCm39)	M353K	possibly damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Chsy3	A	G	18: 59,542,418 (GRCm39)	I519V	probably damaging	Het
Chtop	T	C	3: 90,414,658 (GRCm39)		probably benign	Het
Clstn3	T	A	6: 124,408,972 (GRCm39)	D892V	possibly damaging	Het
Col16a1	A	T	4: 129,990,664 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,345,983 (GRCm39)	E2441G	possibly damaging	Het
Dpy19l2	T	G	9: 24,469,454 (GRCm39)	D734A	probably damaging	Het
Dusp2	T	A	2: 127,178,812 (GRCm39)	Y172*	probably null	Het
Efcab3	A	G	11: 104,890,524 (GRCm39)	N4202S	possibly damaging	Het
Efcab3	G	A	11: 104,937,385 (GRCm39)		probably null	Het
Eml4	G	A	17: 83,781,115 (GRCm39)	R771Q	possibly damaging	Het
Fat2	T	A	11: 55,200,993 (GRCm39)	M694L	probably benign	Het
Fat2	C	A	11: 55,201,986 (GRCm39)	E363*	probably null	Het
Gdpgp1	A	G	7: 79,888,826 (GRCm39)	I286V	probably damaging	Het
Gps1	T	A	11: 120,677,199 (GRCm39)	V166E	probably damaging	Het
Imp4	C	T	1: 34,482,114 (GRCm39)	T79I	probably benign	Het
Kank3	A	G	17: 34,037,841 (GRCm39)	S485G	probably benign	Het
Kcnv2	A	G	19: 27,300,167 (GRCm39)	N6S	probably benign	Het
Krba1	A	T	6: 48,388,603 (GRCm39)	Q534L	probably damaging	Het
Lgr4	A	G	2: 109,836,863 (GRCm39)	N399S	probably damaging	Het
Lgr5	A	G	10: 115,288,952 (GRCm39)	V564A	probably damaging	Het
Lrtm2	A	G	6: 119,297,394 (GRCm39)	F216L	probably benign	Het
Lsm8	T	A	6: 18,849,658 (GRCm39)	M22K	probably benign	Het
Mboat2	C	T	12: 25,005,392 (GRCm39)	T389M	probably damaging	Het
Mcoln1	T	G	8: 3,555,924 (GRCm39)	I73S	probably damaging	Het
Myh7	T	A	14: 55,216,920 (GRCm39)	I1146F	possibly damaging	Het
Naa16	G	A	14: 79,578,486 (GRCm39)	T666I	possibly damaging	Het
Ncoa1	A	G	12: 4,385,873 (GRCm39)	S88P	possibly damaging	Het
Obscn	T	C	11: 58,941,334 (GRCm39)	T4496A	possibly damaging	Het
Or13a28	T	C	7: 140,217,652 (GRCm39)	F13L	probably damaging	Het
Or7a35	T	A	10: 78,853,872 (GRCm39)	F239I	probably damaging	Het
Pdxk	G	T	10: 78,277,012 (GRCm39)	A262D	possibly damaging	Het
Pebp4	T	A	14: 70,089,082 (GRCm39)	L68Q	probably damaging	Het
Pfdn5	C	T	15: 102,236,978 (GRCm39)	H77Y	possibly damaging	Het
Pld1	T	C	3: 28,130,651 (GRCm39)	Y484H	probably damaging	Het
Pou3f3	C	A	1: 42,736,560 (GRCm39)	N85K	unknown	Het
Ppm1m	C	A	9: 106,075,144 (GRCm39)	A134S	probably damaging	Het
Prdm11	A	T	2: 92,806,106 (GRCm39)	S281R	possibly damaging	Het
Prdm2	C	A	4: 142,862,434 (GRCm39)	L285F	probably damaging	Het
Ptchd3	C	T	11: 121,721,939 (GRCm39)	R271*	probably null	Het
Ptprq	A	C	10: 107,488,572 (GRCm39)	V955G	probably damaging	Het
Pygb	A	T	2: 150,657,589 (GRCm39)	M351L	probably benign	Het
Rcl1	G	A	19: 29,095,805 (GRCm39)		probably null	Het
Sgip1	A	T	4: 102,786,097 (GRCm39)	T351S	possibly damaging	Het
Slc22a5	T	C	11: 53,760,215 (GRCm39)	N367S	probably damaging	Het
Sox6	A	G	7: 115,143,830 (GRCm39)	V437A	probably benign	Het
Spata16	T	A	3: 26,721,572 (GRCm39)	M31K	possibly damaging	Het
Stab1	C	A	14: 30,879,372 (GRCm39)	V703F	possibly damaging	Het
Tbc1d4	C	T	14: 101,703,190 (GRCm39)	G752R	probably damaging	Het
Tent4b	G	A	8: 88,978,913 (GRCm39)	G505R	probably null	Het
Tes3-ps	C	T	13: 49,647,460 (GRCm39)	A112V	probably benign	Het
Tnfrsf19	T	C	14: 61,208,382 (GRCm39)	T380A	probably benign	Het
Trim75	C	T	8: 65,435,190 (GRCm39)	G420E	probably damaging	Het
Txlnb	A	G	10: 17,703,712 (GRCm39)	D290G	probably benign	Het
Unc5c	T	A	3: 141,534,238 (GRCm39)	F920I	possibly damaging	Het
Vmn1r233	T	A	17: 21,214,237 (GRCm39)	R238*	probably null	Het
Vmn2r113	A	G	17: 23,176,917 (GRCm39)	E567G	probably benign	Het
Vmn2r97	T	A	17: 19,150,662 (GRCm39)	I503K	probably damaging	Het
Wdr62	A	G	7: 29,964,584 (GRCm39)	W387R	probably damaging	Het
Zfp36l2	A	T	17: 84,495,090 (GRCm39)	D11E	probably benign	Het

Other mutations in H60b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00559:H60b	APN	10	22,161,692 (GRCm39)	missense	probably benign	0.13
IGL00593:H60b	APN	10	22,162,962 (GRCm39)	missense	possibly damaging	0.53
IGL01348:H60b	APN	10	22,162,078 (GRCm39)	missense	possibly damaging	0.95
R0048:H60b	UTSW	10	22,163,130 (GRCm39)	missense	probably benign	0.04
R2038:H60b	UTSW	10	22,162,114 (GRCm39)	missense	probably benign	0.37
R4773:H60b	UTSW	10	22,164,644 (GRCm39)	intron	probably benign
R4916:H60b	UTSW	10	22,163,115 (GRCm39)	missense	possibly damaging	0.46
R5622:H60b	UTSW	10	22,159,441 (GRCm39)	intron	probably benign
R6209:H60b	UTSW	10	22,163,043 (GRCm39)	missense	probably benign	0.00
R6962:H60b	UTSW	10	22,162,053 (GRCm39)	missense	probably benign	0.35
R7712:H60b	UTSW	10	22,161,637 (GRCm39)	missense	possibly damaging	0.48
R8030:H60b	UTSW	10	22,163,020 (GRCm39)	missense	probably damaging	0.96
R8284:H60b	UTSW	10	22,162,971 (GRCm39)	missense	probably benign	0.01
R8519:H60b	UTSW	10	22,159,421 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGAGGGCTGCTGAATTATTTGC -3'
(R):5'- ATTTGTTGAGGCAGCGACTG -3'

Sequencing Primer
(F):5'- GAGCTGAATATTTTTCCCTACCTAG -3'
(R):5'- GGACATTCCTGATATCTTTCTCTAGG -3'

Posted On

2020-09-15