Mutagenetix > Incidental Mutation

Incidental Mutation 'R8229:H2-M10.1'

640963

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

067645-MU

Accession Numbers

Essential gene?

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

Stock #

R8229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36633752-36637042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36634931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 325 (I325V)

Ref Sequence

ENSEMBL: ENSMUSP00000025322 (fasta)

Gene Model

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

AlphaFold

O19443

Predicted Effect

probably benign
Transcript: ENSMUST00000025322
AA Change: I325V

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025322
Gene: ENSMUSG00000024448
AA Change: I325V

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

probably benign
Transcript: ENSMUST00000172576
AA Change: I280V

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133408
Gene: ENSMUSG00000024448
AA Change: I280V

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

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	A	T	8: 25,201,754 (GRCm39)	M203K	probably damaging	Het
Arhgap23	G	A	11: 97,344,732 (GRCm39)	V565I	probably benign	Het
D6Wsu163e	G	T	6: 126,943,966 (GRCm39)	R454L	probably benign	Het
Def6	A	G	17: 28,436,729 (GRCm39)	D131G	probably damaging	Het
Erc1	T	C	6: 119,730,249 (GRCm39)	T616A	probably benign	Het
Ermard	T	A	17: 15,279,596 (GRCm39)		probably benign	Het
Fsip2	T	C	2: 82,808,487 (GRCm39)	L1602P	possibly damaging	Het
Gli1	C	T	10: 127,168,317 (GRCm39)	R512Q	possibly damaging	Het
Gm6034	A	G	17: 36,367,268 (GRCm39)	T38A	unknown	Het
Inf2	A	G	12: 112,578,030 (GRCm39)	D1107G	unknown	Het
Iws1	A	G	18: 32,217,740 (GRCm39)	N448S	probably benign	Het
Klhl24	T	C	16: 19,933,321 (GRCm39)	Y311H	possibly damaging	Het
Lama3	C	T	18: 12,540,608 (GRCm39)	A304V	probably benign	Het
Limch1	A	G	5: 67,186,138 (GRCm39)	E646G	probably damaging	Het
Lrrc8c	T	A	5: 105,754,402 (GRCm39)	V59E	probably benign	Het
Lrrn4	G	A	2: 132,711,807 (GRCm39)	T672I	probably damaging	Het
Magi3	C	A	3: 103,923,017 (GRCm39)	E1233D	possibly damaging	Het
Magi3	T	C	3: 103,923,018 (GRCm39)	E1233G	probably benign	Het
Mgat5b	A	T	11: 116,838,213 (GRCm39)	K284M	probably benign	Het
Nedd4	G	T	9: 72,638,670 (GRCm39)	K485N	probably benign	Het
Or4c114	T	A	2: 88,905,382 (GRCm39)	N18Y	possibly damaging	Het
Or5b101	A	G	19: 13,005,561 (GRCm39)	I44T	possibly damaging	Het
Or5p57	C	T	7: 107,665,794 (GRCm39)	M70I	probably benign	Het
Or5w17	A	T	2: 87,583,408 (GRCm39)	C310S	probably benign	Het
Otud4	A	G	8: 80,400,604 (GRCm39)	H1106R	unknown	Het
Pcdha7	C	A	18: 37,107,776 (GRCm39)	S267*	probably null	Het
Pcdhb11	A	G	18: 37,555,671 (GRCm39)	I334V	probably benign	Het
Phf11b	A	T	14: 59,568,730 (GRCm39)	L61Q	probably damaging	Het
Prepl	T	C	17: 85,388,689 (GRCm39)	D138G	probably benign	Het
Sipa1l1	T	C	12: 82,484,622 (GRCm39)	V1592A	probably damaging	Het
Smc6	T	A	12: 11,341,673 (GRCm39)	S564T	probably benign	Het
Spty2d1	A	G	7: 46,647,522 (GRCm39)	V469A	probably benign	Het
Trim11	G	A	11: 58,872,167 (GRCm39)		probably benign	Het
Ttll7	T	A	3: 146,607,204 (GRCm39)	I158K	probably damaging	Het
Ugt3a1	A	G	15: 9,367,463 (GRCm39)	E402G	probably damaging	Het
Usp33	T	C	3: 152,075,929 (GRCm39)	V383A	probably benign	Het
Ythdc1	A	G	5: 86,957,167 (GRCm39)		probably benign	Het
Ywhab	T	G	2: 163,856,015 (GRCm39)	Y130*	probably null	Het
Zfp609	T	C	9: 65,610,782 (GRCm39)	K727R	possibly damaging	Het
Zscan30	A	C	18: 24,104,737 (GRCm39)	L37R	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
R3922:H2-M10.1	UTSW	17	36,636,577 (GRCm39)	missense	probably benign
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
R9309:H2-M10.1	UTSW	17	36,636,525 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGGAATCACAATCAGGTCTCC -3'
(R):5'- CTGTCAGGAATTGTGTGAGCTC -3'

Sequencing Primer
(F):5'- TCCATCTCCTGCATCAAGAGGG -3'
(R):5'- GCTCTTTGATGAACTAGAGCAGGATC -3'

Posted On

2020-07-28