Mutagenetix > Incidental Mutation

Incidental Mutation 'R8284:H60b'

638382

Institutional Source

Beutler Lab

Gene Symbol

H60b

Ensembl Gene

ENSMUSG00000075297

Gene Name

histocompatibility 60b

Synonyms

EG667281

MMRRC Submission

067707-MU

Accession Numbers

Essential gene?

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

Stock #

R8284 (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 22162971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 182 (L182Q)

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: L182Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101161
Gene: ENSMUSG00000075297
AA Change: L182Q

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: L182Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000117032
Gene: ENSMUSG00000075297
AA Change: L182Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	C	10: 61,034,438 (GRCm39)	Y1147C	possibly damaging	Het
Adgrf5	T	A	17: 43,766,161 (GRCm39)	S1328T	unknown	Het
Aff4	A	G	11: 53,295,379 (GRCm39)	K860E	probably damaging	Het
Aox1	A	C	1: 58,115,250 (GRCm39)	H745P	probably damaging	Het
Bpifc	T	C	10: 85,836,413 (GRCm39)	T31A	probably benign	Het
C3	C	A	17: 57,530,938 (GRCm39)	V388L	probably benign	Het
Celsr3	G	T	9: 108,723,612 (GRCm39)	M2874I	probably damaging	Het
Cnga4	T	A	7: 105,057,239 (GRCm39)	D550E	probably benign	Het
Dhx8	A	G	11: 101,648,455 (GRCm39)	T918A	probably damaging	Het
Dnah14	A	C	1: 181,601,376 (GRCm39)	E3670A	probably benign	Het
Fbxo31	T	C	8: 122,287,181 (GRCm39)	I131V	probably benign	Het
Ftcd	T	C	10: 76,413,893 (GRCm39)	V99A	probably benign	Het
Gucy2e	A	G	11: 69,123,177 (GRCm39)	V471A	probably benign	Het
Hbp1	G	A	12: 31,987,625 (GRCm39)	H188Y	probably damaging	Het
Itga4	C	T	2: 79,151,783 (GRCm39)	T862I	probably benign	Het
Kcnmb4	T	A	10: 116,254,158 (GRCm39)	K206N	probably damaging	Het
Klra4	A	G	6: 130,042,243 (GRCm39)	F8S	possibly damaging	Het
Mrpl2	C	A	17: 46,958,435 (GRCm39)	Y72*	probably null	Het
Nars2	C	A	7: 96,600,845 (GRCm39)		probably benign	Het
Nup214	T	C	2: 31,886,458 (GRCm39)	S607P	possibly damaging	Het
Oas1d	C	T	5: 121,057,221 (GRCm39)	R276*	probably null	Het
Or12d13	C	T	17: 37,647,587 (GRCm39)	V179I	probably benign	Het
Or1l8	T	A	2: 36,818,018 (GRCm39)	Y36F	probably damaging	Het
Or2t1	T	A	14: 14,329,011 (GRCm38)	L300Q	possibly damaging	Het
Or2y1b	A	G	11: 49,209,002 (GRCm39)	T210A	probably benign	Het
Pex13	A	G	11: 23,605,685 (GRCm39)	S182P	possibly damaging	Het
Piwil4	G	T	9: 14,638,774 (GRCm39)	N297K	probably benign	Het
Plxna4	T	C	6: 32,129,789 (GRCm39)	T1845A	probably benign	Het
Pml	T	C	9: 58,136,643 (GRCm39)	N579D	probably benign	Het
Ppl	A	G	16: 4,950,201 (GRCm39)	S3P	probably damaging	Het
Pramel16	G	T	4: 143,676,695 (GRCm39)	D136E	possibly damaging	Het
Prss54	G	A	8: 96,285,994 (GRCm39)	Q360*	probably null	Het
Ralgps2	A	G	1: 156,655,718 (GRCm39)	I402T	probably benign	Het
Rnf213	T	A	11: 119,318,909 (GRCm39)	D1123E		Het
Sdha	A	T	13: 74,479,416 (GRCm39)		probably null	Het
Senp8	G	A	9: 59,644,814 (GRCm39)	T114I		Het
Setx	C	T	2: 29,035,348 (GRCm39)	T611I	possibly damaging	Het
Shc1	T	G	3: 89,329,215 (GRCm39)	S20A	possibly damaging	Het
Slc15a1	T	C	14: 121,727,275 (GRCm39)	I98V	probably benign	Het
Snrk	A	G	9: 121,989,538 (GRCm39)	E294G	probably damaging	Het
Sox18	G	A	2: 181,312,751 (GRCm39)	P127S	probably damaging	Het
Spta1	A	G	1: 174,007,387 (GRCm39)	T206A	probably benign	Het
Tcfl5	A	G	2: 180,280,330 (GRCm39)	S358P	probably benign	Het
Tecta	T	A	9: 42,289,325 (GRCm39)	L413F	possibly damaging	Het
Tlk1	T	C	2: 70,544,365 (GRCm39)	T757A	probably benign	Het
Tmem232	T	A	17: 65,709,990 (GRCm39)	I433F	probably damaging	Het
Top1mt	T	A	15: 75,539,712 (GRCm39)	K300*	probably null	Het
Trbv20	C	T	6: 41,165,782 (GRCm39)	A69V	probably damaging	Het
Trim12a	A	T	7: 103,955,282 (GRCm39)	L147Q	probably damaging	Het
Tuba8	G	A	6: 121,199,736 (GRCm39)	S140N	probably damaging	Het
Vcan	A	T	13: 89,852,454 (GRCm39)	N835K	possibly damaging	Het
Xrcc1	G	A	7: 24,271,703 (GRCm39)	R562H	probably damaging	Het
Yipf7	C	T	5: 69,674,539 (GRCm39)	G202D	probably benign	Het
Ythdc1	T	G	5: 86,964,325 (GRCm39)	S45A	probably benign	Het
Zfp1002	T	C	2: 150,097,276 (GRCm39)		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
R7936:H60b	UTSW	10	22,162,055 (GRCm39)	missense	probably benign	0.01
R8030:H60b	UTSW	10	22,163,020 (GRCm39)	missense	probably damaging	0.96
R8519:H60b	UTSW	10	22,159,421 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ACATGTGCTTTCTTCGGGAG -3'
(R):5'- TTCTTCAGCATACACCAAGCG -3'

Sequencing Primer
(F):5'- GTGCTTTCTTCGGGAGTAAAATAAAC -3'
(R):5'- TTCTTCAGCATACACCAAGCGAATAC -3'

Posted On

2020-07-28