Mutagenetix > Incidental Mutation

Incidental Mutation 'R3922:H2-M10.1'

307000

Institutional Source

Beutler Lab

Gene Symbol

H2-M10.1

Ensembl Gene

ENSMUSG00000024448

Gene Name

histocompatibility 2, M region locus 10.1

Synonyms

9.5H

MMRRC Submission

040819-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R3922 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36633752-36637042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36636577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 76 (I76L)

Ref Sequence

ENSEMBL: ENSMUSP00000025322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025322]

AlphaFold

O19443

Predicted Effect

probably benign
Transcript: ENSMUST00000025322
AA Change: I76L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025322
Gene: ENSMUSG00000024448
AA Change: I76L

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
Pfam:MHC_I	25	203	3.2e-54	PFAM
IGc1	222	293	3.72e-21	SMART
transmembrane domain	306	328	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000172576
AA Change: I31L

SMART Domains

Protein: ENSMUSP00000133408
Gene: ENSMUSG00000024448
AA Change: I31L

Domain	Start	End	E-Value	Type
Pfam:MHC_I	12	159	5e-43	PFAM
IGc1	178	249	3.72e-21	SMART
transmembrane domain	262	284	N/A	INTRINSIC

Meta Mutation Damage Score

0.1353

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
4921504E06Rik	T	A	2: 19,485,371 (GRCm39)	E432V	probably benign	Het
Ahnak	G	A	19: 8,983,692 (GRCm39)	D1659N	probably benign	Het
Arfgap2	C	T	2: 91,105,150 (GRCm39)	R405W	probably damaging	Het
Arhgef28	A	G	13: 98,130,452 (GRCm39)	L462P	possibly damaging	Het
Arid1b	T	C	17: 5,393,316 (GRCm39)	V2282A	probably damaging	Het
Becn2	T	C	1: 175,748,852 (GRCm39)	V306A	probably benign	Het
Cdkl1	G	T	12: 69,803,373 (GRCm39)	R168S	probably damaging	Het
Cep70	T	A	9: 99,157,632 (GRCm39)	*117R	probably null	Het
Cnnm1	A	G	19: 43,428,884 (GRCm39)	M1V	probably null	Het
Cntrl	A	G	2: 35,019,751 (GRCm39)	E526G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Ddx59	T	A	1: 136,344,482 (GRCm39)	V51D	probably benign	Het
Dtd2	G	C	12: 52,051,734 (GRCm39)		probably null	Het
Eea1	T	A	10: 95,872,495 (GRCm39)	N1068K	probably benign	Het
Egfr	T	A	11: 16,831,495 (GRCm39)	C555S	probably damaging	Het
Esd	A	T	14: 74,980,667 (GRCm39)	Q130H	probably benign	Het
Gpr89	A	T	3: 96,798,215 (GRCm39)	I147N	probably damaging	Het
Lgi4	A	T	7: 30,766,873 (GRCm39)	D300V	probably benign	Het
Lrp1b	C	A	2: 40,567,593 (GRCm39)	V276L	unknown	Het
Lrp2	T	C	2: 69,336,720 (GRCm39)	K1351E	probably benign	Het
Mroh8	T	C	2: 157,064,731 (GRCm39)	I782V	probably benign	Het
Msrb1	T	C	17: 24,959,057 (GRCm39)	S70P	probably damaging	Het
Nek10	T	C	14: 14,861,585 (GRCm38)	M547T	possibly damaging	Het
Or51ah3	T	C	7: 103,209,912 (GRCm39)	V76A	probably benign	Het
Or6c2b	C	A	10: 128,947,482 (GRCm39)	V271F	possibly damaging	Het
Or9i2	T	C	19: 13,816,130 (GRCm39)	T136A	probably damaging	Het
P4htm	T	C	9: 108,460,094 (GRCm39)	N227D	probably benign	Het
Plekhm2	T	C	4: 141,356,843 (GRCm39)	T787A	probably benign	Het
Pramel5	A	G	4: 143,999,622 (GRCm39)	L155P	probably damaging	Het
Sbno1	T	C	5: 124,519,993 (GRCm39)	Y1122C	probably damaging	Het
Scn9a	T	A	2: 66,357,217 (GRCm39)	D1028V	possibly damaging	Het
Sft2d1	G	T	17: 8,537,714 (GRCm39)	L34F	possibly damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc27a3	G	T	3: 90,294,392 (GRCm39)	H460N	possibly damaging	Het
Slc35g2	A	T	9: 100,434,780 (GRCm39)	I297N	probably benign	Het
Ssh1	T	G	5: 114,080,769 (GRCm39)	Q865P	possibly damaging	Het
Trp63	A	G	16: 25,707,759 (GRCm39)	D583G	probably damaging	Het
Usp28	T	C	9: 48,942,223 (GRCm39)		probably null	Het
Wdr43	A	G	17: 71,945,296 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,465,707 (GRCm39)	Y1955C	probably damaging	Het
Zfp108	G	A	7: 23,960,773 (GRCm39)	G455R	probably damaging	Het
Zfp353-ps	A	T	8: 42,536,049 (GRCm39)		noncoding transcript	Het

Other mutations in H2-M10.1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01909:H2-M10.1	APN	17	36,635,971 (GRCm39)	nonsense	probably null
IGL02063:H2-M10.1	APN	17	36,634,901 (GRCm39)	splice site	probably benign
R1572:H2-M10.1	UTSW	17	36,636,625 (GRCm39)	missense	possibly damaging	0.64
R1651:H2-M10.1	UTSW	17	36,636,648 (GRCm39)	missense	probably damaging	1.00
R2049:H2-M10.1	UTSW	17	36,636,108 (GRCm39)	missense	possibly damaging	0.68
R2251:H2-M10.1	UTSW	17	36,636,498 (GRCm39)	missense	probably damaging	1.00
R3508:H2-M10.1	UTSW	17	36,636,506 (GRCm39)	missense	possibly damaging	0.59
R3762:H2-M10.1	UTSW	17	36,636,216 (GRCm39)	missense	probably damaging	1.00
R3892:H2-M10.1	UTSW	17	36,635,281 (GRCm39)	missense	possibly damaging	0.61
R5120:H2-M10.1	UTSW	17	36,636,048 (GRCm39)	missense	probably benign
R6258:H2-M10.1	UTSW	17	36,634,994 (GRCm39)	missense	unknown
R6260:H2-M10.1	UTSW	17	36,634,994 (GRCm39)	missense	unknown
R6988:H2-M10.1	UTSW	17	36,636,484 (GRCm39)	missense	probably benign
R7291:H2-M10.1	UTSW	17	36,636,621 (GRCm39)	missense	probably damaging	1.00
R8229:H2-M10.1	UTSW	17	36,634,931 (GRCm39)	missense	probably benign	0.23
R9309:H2-M10.1	UTSW	17	36,636,525 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GATGCATCTCTGACTTGGGGAC -3'
(R):5'- CTGAAGAGGCAGGGTCTCAATG -3'

Sequencing Primer
(F):5'- ACCTAGAGTCGAGCTTATTGGG -3'
(R):5'- AGGGTCTCAATGTGCACCAC -3'

Posted On

2015-04-17