Mutagenetix > Incidental Mutation

Incidental Mutation 'R8400:H2-Q10'

647835

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

067763-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35780986-35785460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35781374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 59 (R59C)

Ref Sequence

ENSEMBL: ENSMUSP00000066419 (fasta)

Gene Model

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

AlphaFold

P01898

Predicted Effect

probably damaging
Transcript: ENSMUST00000068291
AA Change: R59C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066419
Gene: ENSMUSG00000067235
AA Change: R59C

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

probably damaging
Transcript: ENSMUST00000174525
AA Change: R59C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134163
Gene: ENSMUSG00000067235
AA Change: R59C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,243,925 (GRCm39)	M1929I	probably benign	Het
Abca13	T	C	11: 9,248,218 (GRCm39)	I2655T	probably damaging	Het
Acad10	A	G	5: 121,764,268 (GRCm39)	V887A	possibly damaging	Het
Acot10	T	C	15: 20,666,258 (GRCm39)	E161G	possibly damaging	Het
Astn1	C	T	1: 158,484,670 (GRCm39)	P919L	probably benign	Het
Atp1a4	T	A	1: 172,062,061 (GRCm39)	D688V	probably damaging	Het
C4bp	C	A	1: 130,564,484 (GRCm39)	C400F	probably damaging	Het
Col6a6	A	C	9: 105,651,995 (GRCm39)	D1005E	probably damaging	Het
Csnk1g3	C	T	18: 54,086,360 (GRCm39)	R422C	probably benign	Het
Cutc	T	C	19: 43,741,644 (GRCm39)	S15P	probably benign	Het
Dgkb	T	C	12: 38,652,837 (GRCm39)		probably null	Het
Disc1	T	C	8: 125,959,732 (GRCm39)	V748A	probably benign	Het
Dmbt1	C	G	7: 130,684,317 (GRCm39)	D778E	unknown	Het
Dmxl2	T	C	9: 54,291,037 (GRCm39)	Y2471C	probably benign	Het
Fam185a	T	A	5: 21,643,814 (GRCm39)	N243K	probably benign	Het
Fchsd2	A	T	7: 100,902,780 (GRCm39)	Q386L	possibly damaging	Het
Gm904	C	A	13: 50,797,453 (GRCm39)	P49Q	probably damaging	Het
Ier5l	A	G	2: 30,363,105 (GRCm39)	Y307H	possibly damaging	Het
Kmt2e	C	A	5: 23,702,090 (GRCm39)	T906K	probably benign	Het
Kndc1	C	T	7: 139,493,434 (GRCm39)	R467W	probably damaging	Het
Muc5ac	C	A	7: 141,364,213 (GRCm39)	T2508K	probably damaging	Het
Nlrp9a	A	T	7: 26,264,431 (GRCm39)	M784L	probably benign	Het
Nlrp9b	T	A	7: 19,757,937 (GRCm39)	C391*	probably null	Het
Nubp2	A	C	17: 25,103,439 (GRCm39)	M146R	probably damaging	Het
Or10q3	T	A	19: 11,848,578 (GRCm39)	M1L	probably damaging	Het
Or1a1b	C	T	11: 74,097,221 (GRCm39)	V274M	possibly damaging	Het
Or2ag1b	T	A	7: 106,288,876 (GRCm39)	S21C	probably benign	Het
Or2b2	G	A	13: 21,888,085 (GRCm39)	V305M	probably benign	Het
Or4k45	A	T	2: 111,395,747 (GRCm39)	L14H	probably damaging	Het
Or7e166	A	T	9: 19,624,389 (GRCm39)	N89Y	probably benign	Het
Otud1	T	C	2: 19,663,189 (GRCm39)	V106A	possibly damaging	Het
Pcdhac1	T	A	18: 37,225,453 (GRCm39)	Y755*	probably null	Het
Pkd1l3	C	T	8: 110,350,520 (GRCm39)	P455L	possibly damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,477 (GRCm39)		probably benign	Het
Samhd1	T	C	2: 156,941,353 (GRCm39)	E648G	probably benign	Het
Smarca5	T	C	8: 81,435,756 (GRCm39)	T794A	probably benign	Het
Spc24	A	T	9: 21,669,026 (GRCm39)	L87H	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Stra6l	G	A	4: 45,864,905 (GRCm39)	R77Q	probably damaging	Het
Tdrd1	G	A	19: 56,837,081 (GRCm39)	V472M	probably benign	Het
Tsc2	A	T	17: 24,823,961 (GRCm39)	I948K	possibly damaging	Het
Ttc39d	T	C	17: 80,523,434 (GRCm39)	V31A	probably benign	Het
Vmn1r158	A	T	7: 22,489,305 (GRCm39)	C301*	probably null	Het
Vmn2r22	A	T	6: 123,614,486 (GRCm39)	L368*	probably null	Het
Vmn2r79	A	G	7: 86,651,308 (GRCm39)	T236A	probably benign	Het
Vwa1	T	C	4: 155,857,225 (GRCm39)	H191R	probably benign	Het
Zdbf2	T	A	1: 63,344,135 (GRCm39)	V838E	possibly 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
R0278:H2-Q10	UTSW	17	35,784,204 (GRCm39)	missense	possibly damaging	0.83
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

Predicted Primers

PCR Primer
(F):5'- AACAGCTTCTGCAGAGAGGG -3'
(R):5'- ACTGAAAGGGAATCCGGTCC -3'

Sequencing Primer
(F):5'- TCTTCACCCGAGCCCCG -3'
(R):5'- AATCCGGTCCTGGGTCAGTTC -3'

Posted On

2020-09-02