Mutagenetix > Incidental Mutation

Incidental Mutation 'R9705:H2-M10.6'

729774

Institutional Source

Beutler Lab

Gene Symbol

H2-M10.6

Ensembl Gene

ENSMUSG00000037130

Gene Name

histocompatibility 2, M region locus 10.6

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R9705 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37123067-37126458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37123642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 112 (N112S)

Ref Sequence

ENSEMBL: ENSMUSP00000039908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041398]

AlphaFold

Q85ZW5

Predicted Effect

probably benign
Transcript: ENSMUST00000041398
AA Change: N112S

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000039908
Gene: ENSMUSG00000037130
AA Change: N112S

Domain	Start	End	E-Value	Type
Pfam:MHC_I	24	202	2.2e-47	PFAM
IGc1	221	292	9.31e-22	SMART
transmembrane domain	305	327	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	T	1: 11,588,913 (GRCm39)	P110L	probably damaging	Het
Aff1	T	G	5: 103,932,276 (GRCm39)	L298R	possibly damaging	Het
B4galt1	T	C	4: 40,853,474 (GRCm39)	K111R	probably benign	Het
Brap	A	G	5: 121,801,373 (GRCm39)	T87A	probably benign	Het
C1qtnf6	T	A	15: 78,411,493 (GRCm39)	Q61L	probably benign	Het
Ccar2	C	A	14: 70,380,383 (GRCm39)	C399F	probably damaging	Het
Cdh15	C	A	8: 123,591,024 (GRCm39)	D424E	probably damaging	Het
Cemip2	G	A	19: 21,784,788 (GRCm39)	V424I	probably damaging	Het
Col4a4	G	A	1: 82,465,313 (GRCm39)	A954V	unknown	Het
Cul9	T	G	17: 46,854,226 (GRCm39)	T159P	probably damaging	Het
Cyp3a59	A	G	5: 146,033,120 (GRCm39)	E164G	probably benign	Het
Dnah11	A	C	12: 118,094,770 (GRCm39)	L766R	probably damaging	Het
Drd5	T	C	5: 38,478,027 (GRCm39)	V340A	probably damaging	Het
Ephb6	G	A	6: 41,596,715 (GRCm39)	E921K	probably benign	Het
Fam83e	G	A	7: 45,371,921 (GRCm39)	R106K	probably benign	Het
Fsip2	A	G	2: 82,823,634 (GRCm39)	T6456A	probably benign	Het
H2ac1	A	G	13: 24,118,728 (GRCm39)	N95S	probably benign	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Hoxc9	T	A	15: 102,890,362 (GRCm39)	M93K	possibly damaging	Het
Hsd17b4	A	C	18: 50,324,791 (GRCm39)	K668T	probably benign	Het
Inpp4b	T	C	8: 82,772,890 (GRCm39)	V728A	probably benign	Het
Jph3	C	T	8: 122,508,913 (GRCm39)	R392W	probably damaging	Het
Krt79	T	G	15: 101,839,196 (GRCm39)	E424D	probably benign	Het
Mphosph10	T	C	7: 64,027,031 (GRCm39)	E594G	possibly damaging	Het
Mrm2	G	A	5: 140,316,990 (GRCm39)	R15W	probably damaging	Het
Neurl4	A	T	11: 69,799,679 (GRCm39)	D994V	probably damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Odam	T	A	5: 88,037,228 (GRCm39)	F141I	probably benign	Het
Or1j10	A	G	2: 36,266,962 (GRCm39)	Y58C	probably damaging	Het
Or56a3b	T	A	7: 104,770,841 (GRCm39)	L59Q	probably damaging	Het
Pck1	T	A	2: 173,000,170 (GRCm39)	S534T	possibly damaging	Het
Pgm3	A	G	9: 86,437,414 (GRCm39)	F528L	probably benign	Het
Pi4ka	A	T	16: 17,099,815 (GRCm39)	I1936N		Het
Ptpn13	T	C	5: 103,681,221 (GRCm39)	L807S	possibly damaging	Het
Ramp2	T	A	11: 101,137,369 (GRCm39)	L31Q	possibly damaging	Het
Rars2	A	T	4: 34,646,561 (GRCm39)	K275N	possibly damaging	Het
Rusc2	A	C	4: 43,424,936 (GRCm39)	N1131T	probably benign	Het
Snapc1	G	T	12: 74,015,150 (GRCm39)	K161N	probably damaging	Het
Spag8	G	A	4: 43,652,366 (GRCm39)	H325Y	possibly damaging	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Synpo2l	C	T	14: 20,710,989 (GRCm39)	V773M	probably damaging	Het
Syt3	A	G	7: 44,045,225 (GRCm39)	D519G	probably damaging	Het
Tacc2	A	G	7: 130,361,018 (GRCm39)	Y459C	probably damaging	Het
Trp53tg5	T	C	2: 164,313,208 (GRCm39)	S156G	probably benign	Het
Ubb	A	G	11: 62,443,375 (GRCm39)	Y135C	possibly damaging	Het
Vmn2r90	A	G	17: 17,933,039 (GRCm39)	I200V	possibly damaging	Het
Zfp27	C	A	7: 29,595,342 (GRCm39)	V208F	possibly damaging	Het

Other mutations in H2-M10.6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:H2-M10.6	APN	17	37,123,112 (GRCm39)	missense	probably benign	0.13
IGL01590:H2-M10.6	APN	17	37,123,641 (GRCm39)	missense	probably benign	0.05
IGL03200:H2-M10.6	APN	17	37,124,908 (GRCm39)	missense	probably damaging	1.00
IGL03278:H2-M10.6	APN	17	37,124,715 (GRCm39)	missense	probably damaging	0.99
R0018:H2-M10.6	UTSW	17	37,124,941 (GRCm39)	missense	probably damaging	1.00
R0144:H2-M10.6	UTSW	17	37,123,133 (GRCm39)	missense	probably damaging	0.99
R0194:H2-M10.6	UTSW	17	37,124,934 (GRCm39)	missense	probably damaging	1.00
R1168:H2-M10.6	UTSW	17	37,124,052 (GRCm39)	missense	probably benign
R1757:H2-M10.6	UTSW	17	37,124,043 (GRCm39)	missense	probably benign	0.00
R1773:H2-M10.6	UTSW	17	37,123,076 (GRCm39)	missense	probably benign	0.00
R2029:H2-M10.6	UTSW	17	37,124,799 (GRCm39)	missense	possibly damaging	0.47
R3409:H2-M10.6	UTSW	17	37,124,893 (GRCm39)	missense	probably damaging	1.00
R3856:H2-M10.6	UTSW	17	37,123,396 (GRCm39)	missense	probably benign	0.18
R4373:H2-M10.6	UTSW	17	37,123,958 (GRCm39)	missense	probably damaging	1.00
R4869:H2-M10.6	UTSW	17	37,123,425 (GRCm39)	missense	probably benign	0.04
R5684:H2-M10.6	UTSW	17	37,124,746 (GRCm39)	missense	probably damaging	1.00
R6020:H2-M10.6	UTSW	17	37,123,959 (GRCm39)	missense	probably damaging	1.00
R6180:H2-M10.6	UTSW	17	37,125,178 (GRCm39)	missense	probably damaging	1.00
R6328:H2-M10.6	UTSW	17	37,124,836 (GRCm39)	missense	probably damaging	0.96
R8245:H2-M10.6	UTSW	17	37,124,155 (GRCm39)	critical splice donor site	probably null
R9687:H2-M10.6	UTSW	17	37,125,147 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CGTAGACTCCATACAGTTTCAGGG -3'
(R):5'- AGCCTTTGGTCACTATGAGGC -3'

Sequencing Primer
(F):5'- GACTCCATACAGTTTCAGGGATTCG -3'
(R):5'- ATGAGGCTTCTCTTACATCCTAGG -3'

Posted On

2022-10-06