Mutagenetix > Incidental Mutation

Incidental Mutation 'R7192:H2-M10.3'

559688

Institutional Source

Beutler Lab

Gene Symbol

H2-M10.3

Ensembl Gene

ENSMUSG00000058124

Gene Name

histocompatibility 2, M region locus 10.3

Synonyms

5.3H

MMRRC Submission

045333-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R7192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36675896-36679309 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36677451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 276 (E276K)

Ref Sequence

ENSEMBL: ENSMUSP00000073236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073546]

AlphaFold

Q85ZW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000073546
AA Change: E276K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073236
Gene: ENSMUSG00000058124
AA Change: E276K

Domain	Start	End	E-Value	Type
Pfam:MHC_I	24	202	7e-51	PFAM
IGc1	221	292	6.58e-22	SMART
transmembrane domain	305	327	N/A	INTRINSIC

Meta Mutation Damage Score

0.1716

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	G	A	2: 30,686,188 (GRCm39)	T329I	probably damaging	Het
Actl6a	C	A	3: 32,774,373 (GRCm39)	P290H	probably damaging	Het
Akap9	T	A	5: 4,055,723 (GRCm39)		probably null	Het
Anxa2r2	T	A	13: 120,488,241 (GRCm39)	K103*	probably null	Het
Bach1	C	T	16: 87,526,551 (GRCm39)	S671L	possibly damaging	Het
Cacna1c	T	C	6: 118,633,210 (GRCm39)	I1099V		Het
Cage1	G	T	13: 38,203,220 (GRCm39)	P615T	probably benign	Het
Caskin2	C	A	11: 115,692,202 (GRCm39)	R861L	probably damaging	Het
Cc2d2b	A	G	19: 40,762,881 (GRCm39)	T386A	unknown	Het
Ccndbp1	A	G	2: 120,843,424 (GRCm39)	D272G	probably damaging	Het
Cep192	T	A	18: 67,983,599 (GRCm39)	V1553E	probably damaging	Het
Cfhr4	T	A	1: 139,667,033 (GRCm39)	H414L	probably damaging	Het
Chrm5	C	T	2: 112,310,672 (GRCm39)	G148D	probably damaging	Het
Cntnap4	T	C	8: 113,608,432 (GRCm39)	V1284A	probably benign	Het
Cpd	T	C	11: 76,705,667 (GRCm39)	Y355C	probably damaging	Het
Csmd3	C	T	15: 47,567,633 (GRCm39)	V1266I		Het
Cyfip2	T	C	11: 46,145,493 (GRCm39)	E609G	probably benign	Het
Dbr1	T	C	9: 99,458,755 (GRCm39)		probably null	Het
Dmxl1	T	C	18: 50,088,920 (GRCm39)	Y2800H	probably damaging	Het
Dnajc6	G	T	4: 101,455,000 (GRCm39)	A64S	probably benign	Het
Dpp8	A	T	9: 64,953,068 (GRCm39)	N248I	possibly damaging	Het
Dsp	A	T	13: 38,379,569 (GRCm39)	I2105F	probably benign	Het
Edem1	G	A	6: 108,805,965 (GRCm39)	V89M	probably benign	Het
Eml4	A	G	17: 83,761,890 (GRCm39)	Q528R	probably benign	Het
Epb42	A	T	2: 120,854,578 (GRCm39)	V669D	unknown	Het
Fat4	A	T	3: 39,034,613 (GRCm39)	Q2755L	probably benign	Het
Gata6	A	G	18: 11,054,475 (GRCm39)	K135E	possibly damaging	Het
Gmeb1	A	T	4: 131,955,201 (GRCm39)	F325I	probably benign	Het
H4c17	A	T	13: 21,996,227 (GRCm39)	K92*	probably null	Het
Ifi207	T	C	1: 173,556,584 (GRCm39)	N718S	not run	Het
Il6st	A	G	13: 112,631,741 (GRCm39)	N427D	probably benign	Het
Kat7	T	A	11: 95,166,656 (GRCm39)	M509L	probably benign	Het
Klk1b4	T	C	7: 43,859,045 (GRCm39)	V21A	probably benign	Het
Malt1	T	A	18: 65,570,898 (GRCm39)	L78Q	probably benign	Het
Mertk	A	G	2: 128,635,028 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,796,376 (GRCm39)	L1016P	probably damaging	Het
Neu4	A	G	1: 93,952,863 (GRCm39)	I411V	probably benign	Het
Nutm2	A	T	13: 50,627,105 (GRCm39)	D420V	probably damaging	Het
Or10j3b	T	A	1: 173,043,575 (GRCm39)	M119K	probably damaging	Het
Or2w2	A	G	13: 21,758,539 (GRCm39)	L29P	probably damaging	Het
Or4k1	T	C	14: 50,377,577 (GRCm39)	E173G	possibly damaging	Het
Or5ac24	T	C	16: 59,165,542 (GRCm39)	D174G	probably benign	Het
Pcdha12	C	T	18: 37,153,316 (GRCm39)	R12W	probably benign	Het
Pdgfra	G	T	5: 75,343,767 (GRCm39)	D763Y	probably damaging	Het
Pkd2	T	C	5: 104,634,523 (GRCm39)	V518A	probably benign	Het
Prb1a	G	T	6: 132,184,335 (GRCm39)	P433T	unknown	Het
Ptrh2	A	G	11: 86,580,835 (GRCm39)	T151A	probably damaging	Het
Qars1	T	A	9: 108,388,760 (GRCm39)	N273K	probably damaging	Het
Robo2	T	C	16: 73,717,638 (GRCm39)	Y1154C	probably benign	Het
Rps6kc1	T	A	1: 190,532,556 (GRCm39)	D482V	probably damaging	Het
Sec16b	T	C	1: 157,357,013 (GRCm39)	S74P	probably benign	Het
Serpinb2	A	T	1: 107,452,306 (GRCm39)	I295F	probably damaging	Het
Sh3pxd2b	T	A	11: 32,364,318 (GRCm39)	D301E	probably damaging	Het
Sipa1l2	G	A	8: 126,149,348 (GRCm39)	T1637I	probably benign	Het
Slc27a4	A	T	2: 29,695,941 (GRCm39)	N159Y	probably damaging	Het
Stat1	A	C	1: 52,174,780 (GRCm39)	K161Q	possibly damaging	Het
Stc2	T	C	11: 31,319,872 (GRCm39)		probably benign	Het
Strip1	A	G	3: 107,522,651 (GRCm39)	W681R	possibly damaging	Het
Sv2a	G	A	3: 96,101,062 (GRCm39)	G687S	probably damaging	Het
Thnsl2	C	T	6: 71,116,739 (GRCm39)	V138I	probably benign	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tnfrsf1a	T	C	6: 125,338,559 (GRCm39)	S235P	unknown	Het
Tpbg	T	A	9: 85,726,085 (GRCm39)	L18*	probably null	Het
Trabd2b	A	T	4: 114,467,217 (GRCm39)	Q482L	possibly damaging	Het
Trim35	T	A	14: 66,534,895 (GRCm39)	F126Y	probably damaging	Het
Ttn	A	T	2: 76,658,288 (GRCm39)	V12364D	unknown	Het
Ubac2	A	G	14: 122,211,128 (GRCm39)	Y166C	probably damaging	Het
Unc13b	T	A	4: 43,258,519 (GRCm39)	V1320D	probably damaging	Het
Usp34	T	A	11: 23,410,571 (GRCm39)	Y2693N		Het
Utp20	A	T	10: 88,608,321 (GRCm39)	M1572K	probably benign	Het
Vmn1r7	C	T	6: 57,001,452 (GRCm39)	M269I	probably benign	Het
Vmn2r3	C	T	3: 64,167,364 (GRCm39)	G589D	probably benign	Het
Vrtn	A	T	12: 84,695,636 (GRCm39)	M129L	probably damaging	Het
Zfp273	A	T	13: 67,973,183 (GRCm39)	T104S	possibly damaging	Het
Zfp384	T	A	6: 125,010,275 (GRCm39)	N390K	probably damaging	Het
Znfx1	A	G	2: 166,884,110 (GRCm39)	M933T	probably benign	Het

Other mutations in H2-M10.3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02223:H2-M10.3	APN	17	36,678,972 (GRCm39)	missense	possibly damaging	0.84
IGL02410:H2-M10.3	APN	17	36,677,428 (GRCm39)	missense	probably damaging	1.00
IGL02625:H2-M10.3	APN	17	36,678,417 (GRCm39)	missense	probably benign	0.00
IGL03218:H2-M10.3	APN	17	36,678,279 (GRCm39)	missense	probably damaging	0.99
R0815:H2-M10.3	UTSW	17	36,677,582 (GRCm39)	missense	probably damaging	1.00
R0863:H2-M10.3	UTSW	17	36,677,582 (GRCm39)	missense	probably damaging	1.00
R1463:H2-M10.3	UTSW	17	36,677,612 (GRCm39)	missense	probably damaging	1.00
R1737:H2-M10.3	UTSW	17	36,679,296 (GRCm39)	missense	probably benign	0.22
R1833:H2-M10.3	UTSW	17	36,678,387 (GRCm39)	missense	probably damaging	1.00
R1954:H2-M10.3	UTSW	17	36,678,390 (GRCm39)	missense	probably damaging	1.00
R4515:H2-M10.3	UTSW	17	36,678,722 (GRCm39)	splice site	probably null
R4517:H2-M10.3	UTSW	17	36,678,722 (GRCm39)	splice site	probably null
R4519:H2-M10.3	UTSW	17	36,678,722 (GRCm39)	splice site	probably null
R4834:H2-M10.3	UTSW	17	36,678,286 (GRCm39)	missense	probably benign	0.28
R4863:H2-M10.3	UTSW	17	36,677,528 (GRCm39)	missense	probably damaging	1.00
R5473:H2-M10.3	UTSW	17	36,678,261 (GRCm39)	missense	probably damaging	0.97
R6038:H2-M10.3	UTSW	17	36,679,287 (GRCm39)	missense	probably benign	0.15
R6038:H2-M10.3	UTSW	17	36,679,287 (GRCm39)	missense	probably benign	0.15
R7515:H2-M10.3	UTSW	17	36,677,435 (GRCm39)	missense	probably damaging	1.00
R7884:H2-M10.3	UTSW	17	36,677,174 (GRCm39)	missense	probably benign	0.38
R9198:H2-M10.3	UTSW	17	36,678,919 (GRCm39)	missense	probably damaging	1.00
R9487:H2-M10.3	UTSW	17	36,677,423 (GRCm39)	missense	probably benign	0.42
Z1177:H2-M10.3	UTSW	17	36,678,436 (GRCm39)	missense	probably damaging	1.00
Z1177:H2-M10.3	UTSW	17	36,677,471 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCGATGAGGATTGCTATGATG -3'
(R):5'- AGACCTGAAGGGAATGTCACC -3'

Sequencing Primer
(F):5'- TTTGTGGAGGTTCTGAGGAGAGAAAG -3'
(R):5'- CCTGAGGTGCTGGGCCC -3'

Posted On

2019-06-26