Mutagenetix > Incidental Mutation

Incidental Mutation 'R2355:H2-DMb1'

246901

Institutional Source

Beutler Lab

Gene Symbol

H2-DMb1

Ensembl Gene

ENSMUSG00000079547

Gene Name

histocompatibility 2, class II, locus Mb1

Synonyms

H2-M beta1, H2-Mb1, H-2Mb1

MMRRC Submission

040337-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R2355 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34372165-34379203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34376289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 136 (Y136C)

Ref Sequence

ENSEMBL: ENSMUSP00000109870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114232]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000114232
AA Change: Y136C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109870
Gene: ENSMUSG00000079547
AA Change: Y136C

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
MHC_II_beta	27	105	3.45e-23	SMART
IGc1	130	202	9.6e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174765

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	CGG	CG	5: 124,215,368 (GRCm39)		probably null	Het
Ahcyl1	A	G	3: 107,577,533 (GRCm39)	S296P	probably damaging	Het
Alas1	A	G	9: 106,113,673 (GRCm39)	V524A	probably damaging	Het
Amn	C	A	12: 111,238,246 (GRCm39)	D53E	probably damaging	Het
Bbof1	A	G	12: 84,470,223 (GRCm39)	E33G	probably damaging	Het
Ccdc149	T	C	5: 52,578,114 (GRCm39)	E106G	probably damaging	Het
Ceacam5	T	A	7: 17,479,560 (GRCm39)	S226T	probably damaging	Het
Chd7	G	T	4: 8,801,350 (GRCm39)	S698I	possibly damaging	Het
Chst2	A	G	9: 95,288,148 (GRCm39)	L66P	probably damaging	Het
Cps1	C	T	1: 67,195,383 (GRCm39)	P268L	probably damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp3a59	A	T	5: 146,036,622 (GRCm39)	M275L	probably benign	Het
Ddx41	T	G	13: 55,682,113 (GRCm39)	M232L	probably benign	Het
Dnah6	C	A	6: 73,133,404 (GRCm39)	A1068S	possibly damaging	Het
Dnah7a	T	C	1: 53,621,661 (GRCm39)	I1155V	probably benign	Het
Dop1b	G	A	16: 93,567,565 (GRCm39)	V611I	probably damaging	Het
Epyc	A	G	10: 97,512,875 (GRCm39)	Y243C	probably damaging	Het
Fam171a1	C	T	2: 3,226,570 (GRCm39)	Q568*	probably null	Het
Gm5930	A	G	14: 44,573,918 (GRCm39)	S105P	probably damaging	Het
Golga4	A	G	9: 118,389,810 (GRCm39)	D2032G	probably benign	Het
Gps2	AGTGCT	A	11: 69,806,207 (GRCm39)		probably null	Het
Il12b	A	G	11: 44,301,039 (GRCm39)	E185G	probably benign	Het
Kat7	A	C	11: 95,182,407 (GRCm39)	I231R	probably benign	Het
Kcmf1	A	T	6: 72,827,466 (GRCm39)	I58N	probably damaging	Het
Lmf2	A	T	15: 89,235,966 (GRCm39)	V646E	possibly damaging	Het
Lmo7	A	G	14: 102,126,121 (GRCm39)	Q409R	probably damaging	Het
Lmod1	T	A	1: 135,292,253 (GRCm39)	H369Q	probably benign	Het
M1ap	G	A	6: 82,933,484 (GRCm39)	A13T	probably benign	Het
Mapk8ip2	G	T	15: 89,343,168 (GRCm39)	V637L	probably benign	Het
Mettl25	C	A	10: 105,599,316 (GRCm39)	V570L	probably benign	Het
Mfsd1	T	A	3: 67,508,668 (GRCm39)	N449K	probably damaging	Het
Or56a5	A	T	7: 104,793,020 (GRCm39)	M166K	probably benign	Het
Or5b24	T	C	19: 12,912,383 (GRCm39)	S94P	possibly damaging	Het
Or5d18	T	A	2: 87,865,379 (GRCm39)	I35F	probably damaging	Het
Or6c209	G	A	10: 129,483,711 (GRCm39)	C238Y	probably benign	Het
Pcdhb5	T	A	18: 37,455,169 (GRCm39)	S516R	probably benign	Het
Plppr3	C	T	10: 79,701,194 (GRCm39)	M549I	possibly damaging	Het
Ppl	A	G	16: 4,912,361 (GRCm39)	V740A	probably benign	Het
Rabgef1	C	T	5: 130,240,928 (GRCm39)	T349M	probably benign	Het
Rad51ap2	T	C	12: 11,507,109 (GRCm39)	C344R	probably benign	Het
Shank2	A	G	7: 143,611,455 (GRCm39)	Q172R	possibly damaging	Het
Smg9	G	A	7: 24,119,546 (GRCm39)		probably null	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Trim42	A	T	9: 97,241,293 (GRCm39)	N646K	probably damaging	Het
Usp32	T	C	11: 84,896,735 (GRCm39)	I1181V	probably benign	Het
Vwa5b1	C	A	4: 138,319,221 (GRCm39)		probably null	Het

Other mutations in H2-DMb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03356:H2-DMb1	APN	17	34,376,514 (GRCm39)	splice site	probably benign
R0374:H2-DMb1	UTSW	17	34,378,399 (GRCm39)	missense	probably benign	0.08
R0436:H2-DMb1	UTSW	17	34,378,630 (GRCm39)	missense	probably damaging	1.00
R0454:H2-DMb1	UTSW	17	34,374,685 (GRCm39)	missense	probably benign	0.32
R0850:H2-DMb1	UTSW	17	34,374,536 (GRCm39)	missense	probably benign	0.00
R4211:H2-DMb1	UTSW	17	34,374,547 (GRCm39)	missense	possibly damaging	0.87
R5786:H2-DMb1	UTSW	17	34,372,408 (GRCm39)	missense	possibly damaging	0.73
R6125:H2-DMb1	UTSW	17	34,376,439 (GRCm39)	missense	probably damaging	1.00
R6313:H2-DMb1	UTSW	17	34,376,506 (GRCm39)	critical splice donor site	probably null
R6385:H2-DMb1	UTSW	17	34,374,576 (GRCm39)	missense	probably benign	0.00
R6993:H2-DMb1	UTSW	17	34,376,324 (GRCm39)	missense	possibly damaging	0.95
R7207:H2-DMb1	UTSW	17	34,376,490 (GRCm39)	missense	probably damaging	0.99
R7324:H2-DMb1	UTSW	17	34,378,436 (GRCm39)	critical splice donor site	probably null
R8084:H2-DMb1	UTSW	17	34,376,327 (GRCm39)	missense	probably damaging	1.00
R8116:H2-DMb1	UTSW	17	34,374,443 (GRCm39)	missense	probably damaging	1.00
RF015:H2-DMb1	UTSW	17	34,374,476 (GRCm39)	missense	probably damaging	1.00
RF016:H2-DMb1	UTSW	17	34,376,360 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGGAGTGAGTTCTGTTTCCC -3'
(R):5'- GTCCGAGTTCCCACACACTTAC -3'

Sequencing Primer
(F):5'- CTTTTCAATGTGTGGCTGCAGAC -3'
(R):5'- TGTGCTGAACCACGCAG -3'

Posted On

2014-10-30