Mutagenetix > Incidental Mutation

Incidental Mutation 'R0278:H2-Q10'

24500

Institutional Source

Beutler Lab

Gene Symbol

H2-Q10

Ensembl Gene

ENSMUSG00000067235

Gene Name

histocompatibility 2, Q region locus 10

Synonyms

H-2Q10, Q10, Qa10

MMRRC Submission

038500-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0278 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35780986-35785460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35784204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 282 (T282S)

Ref Sequence

ENSEMBL: ENSMUSP00000134163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068291] [ENSMUST00000174525]

AlphaFold

P01898

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068291
AA Change: T282S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066419
Gene: ENSMUSG00000067235
AA Change: T282S

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
Pfam:MHC_I	25	203	5.8e-98	PFAM
IGc1	222	293	8.23e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174525
AA Change: T282S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134163
Gene: ENSMUSG00000067235
AA Change: T282S

Domain	Start	End	E-Value	Type
low complexity region	9	18	N/A	INTRINSIC
Pfam:MHC_I	25	203	3.3e-99	PFAM
IGc1	222	293	8.23e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174589

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Unlike other class I genes, this gene is expressed only in liver cells and its product is secreted into the serum. The amount of protein in serum varies among inbred strains with different H2 haplotypes and is completely absent in the H2f strain B10.M. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,328,215 (GRCm39)	S3429R	probably damaging	Het
Abca3	A	G	17: 24,600,894 (GRCm39)	D436G	probably benign	Het
Acacb	C	A	5: 114,371,320 (GRCm39)	Y1816*	probably null	Het
Acer3	T	C	7: 97,910,804 (GRCm39)	Y86C	probably damaging	Het
Adgre1	A	G	17: 57,754,872 (GRCm39)	I657V	probably benign	Het
Akap1	A	G	11: 88,736,020 (GRCm39)	V214A	probably benign	Het
Ankrd42	T	C	7: 92,280,865 (GRCm39)	R22G	possibly damaging	Het
Apc2	C	T	10: 80,148,647 (GRCm39)	P1234S	possibly damaging	Het
Atp13a4	A	G	16: 29,273,652 (GRCm39)	I441T	probably damaging	Het
Cenpu	G	A	8: 47,031,344 (GRCm39)	A242T	probably damaging	Het
Col6a6	A	T	9: 105,644,487 (GRCm39)	V1267E	possibly damaging	Het
Crhr2	T	C	6: 55,094,516 (GRCm39)	T58A	probably benign	Het
Ddx6	T	G	9: 44,542,722 (GRCm39)	C385G	probably damaging	Het
Dnah7a	A	T	1: 53,543,305 (GRCm39)	N2288K	probably benign	Het
Egfl8	A	T	17: 34,833,342 (GRCm39)		probably null	Het
Elmo2	A	T	2: 165,139,287 (GRCm39)	I420N	probably damaging	Het
Elovl4	A	G	9: 83,665,248 (GRCm39)	F113L	probably benign	Het
Fancd2	T	A	6: 113,525,409 (GRCm39)		probably null	Het
Fbxl13	A	G	5: 21,728,908 (GRCm39)	V456A	probably benign	Het
Fgfr2	A	T	7: 129,863,592 (GRCm39)		probably null	Het
Fkbpl	A	T	17: 34,864,384 (GRCm39)	R51*	probably null	Het
Fn3krp	G	A	11: 121,312,406 (GRCm39)	V40M	probably damaging	Het
Fnip1	A	G	11: 54,380,169 (GRCm39)		probably null	Het
Gm15446	A	T	5: 110,091,281 (GRCm39)	Q511L	probably benign	Het
Gm7334	A	G	17: 51,006,289 (GRCm39)	K192E	probably damaging	Het
Hspa9	A	G	18: 35,073,963 (GRCm39)	V482A	possibly damaging	Het
Ica1l	A	T	1: 60,053,155 (GRCm39)	S128T	probably benign	Het
Il7r	A	T	15: 9,516,423 (GRCm39)	I126K	probably damaging	Het
Kcnj8	T	C	6: 142,516,074 (GRCm39)	E11G	probably benign	Het
Klkb1	A	C	8: 45,725,446 (GRCm39)	F498V	probably benign	Het
Lama1	A	G	17: 68,117,178 (GRCm39)	E2491G	probably null	Het
Lhfpl2	T	C	13: 94,310,943 (GRCm39)	V71A	probably benign	Het
Lin9	T	C	1: 180,493,488 (GRCm39)	I198T	probably damaging	Het
Lrrc7	T	A	3: 157,885,432 (GRCm39)	M431L	possibly damaging	Het
Nmt2	A	G	2: 3,326,424 (GRCm39)	T519A	probably benign	Het
Or10w1	C	A	19: 13,632,128 (GRCm39)	L112I	probably damaging	Het
Or10w1	T	A	19: 13,632,129 (GRCm39)	L112H	probably damaging	Het
Or1d2	T	C	11: 74,256,028 (GRCm39)	F178L	probably damaging	Het
Or4a74	G	T	2: 89,440,108 (GRCm39)	L113M	probably damaging	Het
Or4a74	A	T	2: 89,440,107 (GRCm39)	L113Q	probably damaging	Het
Or5al7	A	T	2: 85,992,923 (GRCm39)	Y123*	probably null	Het
Or7h8	G	T	9: 20,124,182 (GRCm39)	C179F	probably damaging	Het
Parp4	A	G	14: 56,844,980 (GRCm39)	R624G	probably damaging	Het
Pex16	C	T	2: 92,211,401 (GRCm39)	P325S	probably damaging	Het
Pik3ca	T	C	3: 32,493,902 (GRCm39)	M288T	possibly damaging	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Prss43	T	A	9: 110,656,430 (GRCm39)	M39K	probably benign	Het
Psd4	T	C	2: 24,284,450 (GRCm39)	S105P	probably damaging	Het
Ptprz1	T	A	6: 23,000,816 (GRCm39)	S969T	probably benign	Het
Rad23b	T	A	4: 55,383,575 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl10l	A	G	12: 66,331,130 (GRCm39)	M1T	probably null	Het
Sec16a	A	G	2: 26,318,328 (GRCm39)	S1588P	probably damaging	Het
Sh3rf1	A	T	8: 61,827,052 (GRCm39)	H602L	probably damaging	Het
Sparcl1	A	T	5: 104,236,263 (GRCm39)	S497T	probably benign	Het
Spata13	A	G	14: 60,929,537 (GRCm39)	Y365C	probably benign	Het
Trim5	T	C	7: 103,928,882 (GRCm39)	N20D	probably benign	Het
Vmn1r201	G	T	13: 22,659,194 (GRCm39)	W136L	probably damaging	Het
Vmn2r112	A	G	17: 22,821,987 (GRCm39)	I222V	probably benign	Het
Vmn2r56	A	T	7: 12,449,644 (GRCm39)	V198D	probably damaging	Het
Wapl	A	G	14: 34,414,569 (GRCm39)	D477G	possibly damaging	Het
Zfp202	C	A	9: 40,119,778 (GRCm39)	H194N	probably benign	Het
Zfp212	C	T	6: 47,903,453 (GRCm39)	R13W	probably damaging	Het

Other mutations in H2-Q10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01893:H2-Q10	APN	17	35,784,168 (GRCm39)	missense	probably damaging	1.00
IGL02003:H2-Q10	APN	17	35,781,338 (GRCm39)	missense	probably benign	0.01
IGL02308:H2-Q10	APN	17	35,784,463 (GRCm39)	makesense	probably null
IGL02804:H2-Q10	APN	17	35,784,147 (GRCm39)	missense	probably damaging	1.00
gomez	UTSW	17	35,784,917 (GRCm39)	utr 3 prime	probably benign
lurch	UTSW	17	35,781,915 (GRCm39)	missense	possibly damaging	0.92
R1679:H2-Q10	UTSW	17	35,784,492 (GRCm39)	utr 3 prime	probably benign
R1919:H2-Q10	UTSW	17	35,781,385 (GRCm39)	missense	probably damaging	1.00
R3781:H2-Q10	UTSW	17	35,781,915 (GRCm39)	missense	possibly damaging	0.92
R3782:H2-Q10	UTSW	17	35,781,915 (GRCm39)	missense	possibly damaging	0.92
R4614:H2-Q10	UTSW	17	35,784,917 (GRCm39)	utr 3 prime	probably benign
R4814:H2-Q10	UTSW	17	35,784,481 (GRCm39)	utr 3 prime	probably benign
R4870:H2-Q10	UTSW	17	35,781,357 (GRCm39)	missense	probably damaging	1.00
R6063:H2-Q10	UTSW	17	35,781,026 (GRCm39)	missense	probably benign	0.13
R7448:H2-Q10	UTSW	17	35,784,457 (GRCm39)	missense	not run
R7728:H2-Q10	UTSW	17	35,781,735 (GRCm39)	missense	probably damaging	0.98
R8034:H2-Q10	UTSW	17	35,781,338 (GRCm39)	missense	probably damaging	1.00
R8172:H2-Q10	UTSW	17	35,781,996 (GRCm39)	missense	probably null	1.00
R8233:H2-Q10	UTSW	17	35,781,983 (GRCm39)	missense	probably benign	0.28
R8400:H2-Q10	UTSW	17	35,781,374 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACCCATCACCCAGGATCTGAAG -3'
(R):5'- GCAGACCCAGTTTGAGTCAGTAGC -3'

Sequencing Primer
(F):5'- CACCCAGGATCTGAAGGTGATG -3'
(R):5'- CCAGTTTGAGTCAGTAGCAATGTG -3'

Posted On

2013-04-16