Mutagenetix > Incidental Mutation

Incidental Mutation 'R8233:H2-Q10'

637239

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

067665-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8233 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35780986-35785460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35781983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 202 (T202A)

Ref Sequence

ENSEMBL: ENSMUSP00000066419 (fasta)

Gene Model

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

AlphaFold

P01898

Predicted Effect

probably benign
Transcript: ENSMUST00000068291
AA Change: T202A

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066419
Gene: ENSMUSG00000067235
AA Change: T202A

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 benign
Transcript: ENSMUST00000174525
AA Change: T202A

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134163
Gene: ENSMUSG00000067235
AA Change: T202A

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: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.8%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,602,687 (GRCm39)	V42E	probably benign	Het
Abca12	T	C	1: 71,390,916 (GRCm39)	E153G	probably benign	Het
Adamts20	A	C	15: 94,189,533 (GRCm39)	I1440S	probably benign	Het
Aspm	T	A	1: 139,385,042 (GRCm39)	S229T	probably benign	Het
Atp2b2	A	T	6: 113,742,680 (GRCm39)		probably null	Het
Cd101	G	T	3: 100,900,989 (GRCm39)	H1032N	unknown	Het
Col6a2	A	G	10: 76,444,540 (GRCm39)		probably null	Het
Crot	A	T	5: 9,026,027 (GRCm39)	I320K	possibly damaging	Het
D5Ertd579e	A	T	5: 36,772,588 (GRCm39)	D602E	probably damaging	Het
Degs1	A	G	1: 182,107,160 (GRCm39)	V69A	probably benign	Het
Dgkz	A	G	2: 91,769,994 (GRCm39)	S557P	probably damaging	Het
Fat1	T	A	8: 45,405,055 (GRCm39)	L602Q		Het
Gli2	A	T	1: 118,772,167 (GRCm39)	Y513N	probably damaging	Het
Hnrnpa3	A	G	2: 75,492,860 (GRCm39)	N195D	probably benign	Het
Ifna1	C	T	4: 88,768,628 (GRCm39)	T102I	possibly damaging	Het
Igfbp3	T	A	11: 7,160,152 (GRCm39)	H167L	probably benign	Het
Igfn1	T	C	1: 135,895,782 (GRCm39)	T1595A	probably benign	Het
Krt14	A	G	11: 100,094,178 (GRCm39)	V472A	probably damaging	Het
Lrrc74b	T	A	16: 17,376,089 (GRCm39)	H187L	probably benign	Het
Magoh	T	G	4: 107,738,132 (GRCm39)	V44G	possibly damaging	Het
Mbnl1	A	T	3: 60,532,551 (GRCm39)	I274L	probably benign	Het
Or13a27	T	G	7: 139,925,411 (GRCm39)	M164L	probably benign	Het
Or4c108	C	T	2: 88,804,082 (GRCm39)	R51H	probably benign	Het
Pdcd1	A	G	1: 93,967,142 (GRCm39)	V252A	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Plcxd3	A	G	15: 4,546,317 (GRCm39)	D107G	possibly damaging	Het
Polr2m	T	A	9: 71,390,866 (GRCm39)	D112V	probably benign	Het
Ptprn	A	T	1: 75,229,796 (GRCm39)	M701K	probably damaging	Het
Rxrb	A	G	17: 34,255,879 (GRCm39)	D421G	possibly damaging	Het
Slfn4	A	G	11: 83,078,355 (GRCm39)	E381G	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Srgap1	A	G	10: 121,661,341 (GRCm39)	I530T	probably damaging	Het
Stmn4	A	G	14: 66,595,341 (GRCm39)	H122R	probably damaging	Het
Sycp2	T	C	2: 177,998,427 (GRCm39)	E1031G	probably damaging	Het
Tle1	T	C	4: 72,043,181 (GRCm39)	T553A	probably benign	Het
Tnik	T	A	3: 28,609,086 (GRCm39)	W217R	unknown	Het
Tyrp1	T	C	4: 80,769,190 (GRCm39)	V161A	unknown	Het
Usp29	T	A	7: 6,965,406 (GRCm39)	F416L	probably benign	Het
Usp45	T	C	4: 21,781,736 (GRCm39)	V34A	probably benign	Het
Vmn1r119	A	G	7: 20,745,932 (GRCm39)	V150A	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
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
R8400:H2-Q10	UTSW	17	35,781,374 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCGATTACATTGCCCTGAAC -3'
(R):5'- TGTTACCTCAGGGAAATTCTCTC -3'

Sequencing Primer
(F):5'- TTGCCCTGAACGAAGACCTG -3'
(R):5'- CACTGTCCAGGGAGAAGGCTG -3'

Posted On

2020-07-13