Mutagenetix > Incidental Mutation

Incidental Mutation 'R4814:H2-Q10'

369675

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

042432-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4814 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35780986-35785460 bp(+) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to C at 35784481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134163 (fasta)

Gene Model

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

AlphaFold

P01898

Predicted Effect

probably benign
Transcript: ENSMUST00000068291

SMART Domains

Protein: ENSMUSP00000066419
Gene: ENSMUSG00000067235

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

SMART Domains

Protein: ENSMUSP00000134163
Gene: ENSMUSG00000067235

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (79/79)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	G	16: 56,471,116 (GRCm39)	V587G	probably benign	Het
Abtb2	A	G	2: 103,547,632 (GRCm39)	D1002G	probably benign	Het
Acap2	A	G	16: 30,926,944 (GRCm39)	S524P	probably benign	Het
Acsm1	A	T	7: 119,254,687 (GRCm39)	I385L	probably benign	Het
Adra1a	C	G	14: 66,875,481 (GRCm39)	A152G	probably benign	Het
Agbl4	A	T	4: 111,513,565 (GRCm39)	Y437F	possibly damaging	Het
Amt	A	G	9: 108,176,979 (GRCm39)	T196A	probably benign	Het
Apobr	G	A	7: 126,185,859 (GRCm39)	V457M	probably benign	Het
Birc6	A	G	17: 74,956,667 (GRCm39)	K3563E	probably damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Chrna9	T	C	5: 66,134,492 (GRCm39)	W448R	probably damaging	Het
Cyp4a31	A	T	4: 115,427,466 (GRCm39)	D224V	probably damaging	Het
Ddx10	C	A	9: 53,115,405 (GRCm39)	R643L	possibly damaging	Het
Dip2c	A	G	13: 9,586,896 (GRCm39)	H200R	probably benign	Het
Dnah8	A	T	17: 30,986,898 (GRCm39)	R3182S	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Egfr	T	C	11: 16,819,354 (GRCm39)	C295R	probably damaging	Het
Garem1	A	T	18: 21,281,173 (GRCm39)	N394K	probably damaging	Het
Gcat	T	C	15: 78,915,322 (GRCm39)		probably null	Het
Gckr	C	T	5: 31,455,644 (GRCm39)	Q66*	probably null	Het
Gm26996	A	T	6: 130,556,317 (GRCm39)		noncoding transcript	Het
Gm9386	C	A	17: 81,246,141 (GRCm39)		noncoding transcript	Het
Gpr6	A	T	10: 40,947,258 (GRCm39)	M108K	possibly damaging	Het
Hpf1	A	G	8: 61,346,841 (GRCm39)	D52G	probably damaging	Het
Jak2	A	G	19: 29,279,377 (GRCm39)	R989G	probably damaging	Het
Kat7	A	G	11: 95,193,949 (GRCm39)		probably benign	Het
Kcnn3	G	T	3: 89,570,031 (GRCm39)	V615F	probably damaging	Het
Lgi1	G	T	19: 38,289,326 (GRCm39)		probably null	Het
Lrrtm4	A	T	6: 80,000,117 (GRCm39)	T510S	possibly damaging	Het
Map7d1	A	G	4: 126,128,114 (GRCm39)		probably null	Het
Mapt	T	C	11: 104,189,786 (GRCm39)	V252A	probably benign	Het
Mbd4	A	T	6: 115,826,260 (GRCm39)	S223T	possibly damaging	Het
Meig1	T	A	2: 3,412,959 (GRCm39)	I21L	probably benign	Het
Mia3	A	G	1: 183,113,684 (GRCm39)	Y447H	probably damaging	Het
Mrpl46	A	C	7: 78,430,343 (GRCm39)	N142K	probably benign	Het
Myo18a	C	A	11: 77,750,062 (GRCm39)		probably benign	Het
Nup188	A	G	2: 30,216,523 (GRCm39)	T776A	possibly damaging	Het
Oas1h	C	A	5: 121,000,728 (GRCm39)	H113N	probably damaging	Het
Or6c202	T	A	10: 128,996,245 (GRCm39)	T203S	possibly damaging	Het
Or7g18	A	G	9: 18,787,213 (GRCm39)	I197V	probably benign	Het
Or7g27	C	T	9: 19,250,476 (GRCm39)	T240M	probably damaging	Het
Or9i1b	A	T	19: 13,896,817 (GRCm39)	L144F	possibly damaging	Het
Orc3	T	A	4: 34,572,450 (GRCm39)		probably benign	Het
Osbpl3	T	A	6: 50,329,980 (GRCm39)	L65F	probably damaging	Het
Papola	C	A	12: 105,765,912 (GRCm39)	P4Q	probably damaging	Het
Pepd	A	G	7: 34,645,022 (GRCm39)	N151S	probably damaging	Het
Plekhm2	A	G	4: 141,355,150 (GRCm39)	L959P	probably benign	Het
Prpf40a	A	T	2: 53,080,032 (GRCm39)	H82Q	probably damaging	Het
Robo1	C	T	16: 72,768,923 (GRCm39)	T496M	probably benign	Het
Samd9l	T	G	6: 3,372,863 (GRCm39)	Q1466P	probably damaging	Het
Serpina1a	T	C	12: 103,821,022 (GRCm39)	T342A	probably benign	Het
Serpina3i	A	G	12: 104,231,470 (GRCm39)	T36A	probably benign	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Slc35g1	A	G	19: 38,391,275 (GRCm39)	S186G	possibly damaging	Het
Slco6d1	T	A	1: 98,350,899 (GRCm39)	D126E	probably benign	Het
Smchd1	A	G	17: 71,718,763 (GRCm39)		probably null	Het
Smpdl3a	C	A	10: 57,687,337 (GRCm39)	T355K	probably damaging	Het
Sntg2	A	G	12: 30,423,267 (GRCm39)		probably benign	Het
Sox14	T	A	9: 99,757,284 (GRCm39)	M152L	probably benign	Het
Spats2l	G	T	1: 57,977,085 (GRCm39)	A308S	possibly damaging	Het
Tcf12	T	C	9: 71,777,323 (GRCm39)		probably benign	Het
Tcf7l2	T	A	19: 55,912,504 (GRCm39)	C478*	probably null	Het
Tekt5	A	G	16: 10,200,771 (GRCm39)	L250P	probably damaging	Het
Tmem132d	T	G	5: 128,061,328 (GRCm39)	I425L	probably benign	Het
Tmem174	T	A	13: 98,773,456 (GRCm39)	I125F	probably damaging	Het
Trafd1	T	G	5: 121,512,079 (GRCm39)	I404L	probably benign	Het
Trpm5	G	A	7: 142,636,373 (GRCm39)	P500S	possibly damaging	Het
Trpm6	T	A	19: 18,839,576 (GRCm39)	N1616K	probably benign	Het
Vmn1r4	A	G	6: 56,933,715 (GRCm39)	D73G	possibly damaging	Het
Vmn2r85	T	A	10: 130,254,567 (GRCm39)	I706F	probably benign	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zfp982	A	G	4: 147,597,090 (GRCm39)	Q149R	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
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'- CCTTCTACAGACCCTGAGTTG -3'
(R):5'- CTTCACTGCAATGTCCCCAG -3'

Sequencing Primer
(F):5'- TGGTCAGGGCTGAGAGC -3'
(R):5'- TTTCTACCTGTGAGAGGAAAAGATG -3'

Posted On

2016-02-04