Mutagenetix > Incidental Mutation

Incidental Mutation 'R4211:H2-DMb1'

319220

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34372165-34379203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34374547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 66 (F66I)

Ref Sequence

ENSEMBL: ENSMUSP00000109870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041982] [ENSMUST00000114232] [ENSMUST00000171231]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000041982

SMART Domains

Protein: ENSMUSP00000043526
Gene: ENSMUSG00000037548

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
MHC_II_beta	27	105	7.87e-27	SMART
IGc1	130	202	9.6e-24	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114232
AA Change: F66I

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109870
Gene: ENSMUSG00000079547
AA Change: F66I

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

probably benign
Transcript: ENSMUST00000171231

SMART Domains

Protein: ENSMUSP00000126533
Gene: ENSMUSG00000037548

Domain	Start	End	E-Value	Type
IGc1	2	71	6.48e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174765

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,283,209 (GRCm39)	I166V	probably benign	Het
Albfm1	T	G	5: 90,712,096 (GRCm39)	V63G	probably damaging	Het
Anapc5	T	C	5: 122,955,968 (GRCm39)	E154G	probably benign	Het
Anpep	A	T	7: 79,490,744 (GRCm39)	Y257*	probably null	Het
Atp8b1	A	T	18: 64,686,118 (GRCm39)	D688E	probably damaging	Het
Bub1b	C	A	2: 118,461,459 (GRCm39)	H670Q	possibly damaging	Het
Casp3	G	T	8: 47,088,423 (GRCm39)	D107Y	probably damaging	Het
Castor2	T	C	5: 134,154,783 (GRCm39)		probably null	Het
Clcc1	A	T	3: 108,570,907 (GRCm39)	Y105F	possibly damaging	Het
Cr2	A	C	1: 194,838,636 (GRCm39)	L671R	probably damaging	Het
Cttnbp2	A	G	6: 18,427,542 (GRCm39)	V713A	probably damaging	Het
Cyp4a31	T	C	4: 115,422,210 (GRCm39)	F65L	probably benign	Het
Dpysl2	T	C	14: 67,052,926 (GRCm39)	S308G	probably damaging	Het
Dusp22	A	T	13: 30,892,726 (GRCm39)	I168F	probably benign	Het
Ecel1	A	G	1: 87,079,872 (GRCm39)	S414P	probably damaging	Het
Fat2	A	G	11: 55,174,810 (GRCm39)	F1968L	probably damaging	Het
Fsip2	C	T	2: 82,805,493 (GRCm39)	T604I	probably damaging	Het
Hgf	T	C	5: 16,819,991 (GRCm39)	V574A	probably damaging	Het
Hoxa7	A	T	6: 52,193,605 (GRCm39)	Y137*	probably null	Het
Ikbke	T	A	1: 131,191,085 (GRCm39)	I519F	probably damaging	Het
Inpp5j	T	G	11: 3,451,107 (GRCm39)	H514P	probably damaging	Het
Kmt2d	A	G	15: 98,738,070 (GRCm39)		probably benign	Het
Larp7	T	A	3: 127,340,603 (GRCm39)	R112S	probably benign	Het
Lepr	C	T	4: 101,590,611 (GRCm39)	A63V	probably benign	Het
Lmx1a	G	T	1: 167,660,428 (GRCm39)	V238L	probably damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mcmbp	T	C	7: 128,317,729 (GRCm39)	E172G	possibly damaging	Het
Mcpt8	G	A	14: 56,321,375 (GRCm39)	H30Y	probably damaging	Het
Nek8	C	A	11: 78,061,309 (GRCm39)	V379L	probably benign	Het
Numa1	T	G	7: 101,658,945 (GRCm39)	L356R	probably damaging	Het
Pard6b	C	T	2: 167,940,943 (GRCm39)	A310V	probably benign	Het
Pcgf5	C	A	19: 36,414,740 (GRCm39)	N26K	possibly damaging	Het
Phtf1	G	A	3: 103,910,919 (GRCm39)		probably null	Het
Plch1	C	A	3: 63,618,640 (GRCm39)	D675Y	probably damaging	Het
Plk2	A	G	13: 110,532,871 (GRCm39)	H144R	probably damaging	Het
Rax	T	A	18: 66,068,152 (GRCm39)	N318Y	unknown	Het
Slc9a5	A	G	8: 106,085,103 (GRCm39)	N535D	possibly damaging	Het
Smarcd2	T	A	11: 106,157,731 (GRCm39)	K138*	probably null	Het
Taar7e	A	T	10: 23,913,932 (GRCm39)	I141F	probably damaging	Het
Taar7f	T	A	10: 23,925,921 (GRCm39)	W172R	probably damaging	Het
Tango6	A	G	8: 107,415,856 (GRCm39)	I226V	probably benign	Het
Tcn2	T	C	11: 3,872,114 (GRCm39)	K338E	possibly damaging	Het
Tdp1	C	A	12: 99,864,588 (GRCm39)	A243E	probably damaging	Het
Tfpt	A	G	7: 3,623,386 (GRCm39)	Y240H	probably damaging	Het
Tmod4	A	G	3: 95,035,140 (GRCm39)	D215G	probably benign	Het
Top3b	A	G	16: 16,700,396 (GRCm39)		probably null	Het
Urgcp	C	A	11: 5,665,878 (GRCm39)	G820V	probably damaging	Het
Zfand2b	A	T	1: 75,146,454 (GRCm39)	M110L	probably benign	Het
Zfyve1	A	T	12: 83,621,909 (GRCm39)	V162E	probably damaging	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
R2355:H2-DMb1	UTSW	17	34,376,289 (GRCm39)	missense	probably damaging	1.00
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'- CAGGCTCCTAAAGATGGTTCC -3'
(R):5'- AAGCATCTCCTTGTCCACTG -3'

Sequencing Primer
(F):5'- TCCATGGTCACTCAGTTACAAGGG -3'
(R):5'- GTCCACTGCCCTCCTGG -3'

Posted On

2015-06-10