Mutagenetix > Incidental Mutation

Incidental Mutation 'R8167:H2-D1'

633882

Institutional Source

Beutler Lab

Gene Symbol

H2-D1

Ensembl Gene

ENSMUSG00000073411

Gene Name

histocompatibility 2, D region locus 1

Synonyms

H-2D

MMRRC Submission

067593-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R8167 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35482070-35486473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35485741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 89 (T89A)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172785]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000134582
Gene: ENSMUSG00000073411
AA Change: T94A

Domain	Start	End	E-Value	Type
SCOP:d1hdma1	2	21	3e-8	SMART
Pfam:MHC_I_C	57	81	1.9e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172785

SMART Domains

Protein: ENSMUSP00000134570
Gene: ENSMUSG00000073411

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:MHC_I	25	203	8.3e-93	PFAM
IGc1	222	293	4.73e-23	SMART
transmembrane domain	308	330	N/A	INTRINSIC
Pfam:MHC_I_C	337	361	1e-8	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000133518
Gene: ENSMUSG00000073411
AA Change: T89A

Domain	Start	End	E-Value	Type
SCOP:d1hdma1	2	21	3e-8	SMART
Pfam:MHC_I_C	52	76	1.7e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a spontaneous allele are susceptible to chronic Theiler's Murine Encephalomyelitis Virus (TMEV) infection and demyelination, and lack the ability to respond to the viral peptide VP2121-130, the single Ag driving the protective CD8 T cell response in wild-type B6 mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	A	7: 43,147,288 (GRCm39)	I315F	possibly damaging	Het
Aadacl2fm3	T	A	3: 59,784,632 (GRCm39)	D368E	probably benign	Het
Acin1	G	A	14: 54,902,337 (GRCm39)	T485I	probably benign	Het
Adamts2	A	T	11: 50,670,541 (GRCm39)	I552F	probably damaging	Het
Anapc11	T	A	11: 120,490,112 (GRCm39)	N9K	probably benign	Het
Arhgef18	A	T	8: 3,403,636 (GRCm39)		probably benign	Het
Atp9b	T	C	18: 80,890,398 (GRCm39)	T314A		Het
Birc6	T	A	17: 74,950,389 (GRCm39)	I3214N	probably damaging	Het
Catsperb	A	G	12: 101,557,714 (GRCm39)	I762V	probably benign	Het
Cblb	T	A	16: 51,986,365 (GRCm39)	M536K	probably benign	Het
Ccdc85c	C	A	12: 108,240,759 (GRCm39)	A212S	unknown	Het
Cdh23	T	A	10: 60,150,162 (GRCm39)	D2561V	probably benign	Het
Cdh23	T	A	10: 60,173,472 (GRCm39)	Y1672F	probably damaging	Het
Cep83	T	C	10: 94,564,579 (GRCm39)	S173P	possibly damaging	Het
Ctc1	C	T	11: 68,918,584 (GRCm39)	P530S	probably damaging	Het
D630045J12Rik	A	G	6: 38,167,484 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,292,671 (GRCm39)	I3019F	possibly damaging	Het
Dsc1	T	C	18: 20,230,258 (GRCm39)	D349G	probably damaging	Het
Ehd2	C	G	7: 15,697,917 (GRCm39)	G107R	probably damaging	Het
Epha3	A	T	16: 63,388,804 (GRCm39)	W816R	probably damaging	Het
Fam135b	T	A	15: 71,404,840 (GRCm39)	S69C	probably null	Het
Fbxo43	A	G	15: 36,151,917 (GRCm39)	F600S	probably damaging	Het
Flnc	A	T	6: 29,455,921 (GRCm39)	D2117V	probably damaging	Het
Gas2l3	T	A	10: 89,262,342 (GRCm39)	T127S	probably damaging	Het
Gli3	T	G	13: 15,900,228 (GRCm39)	L1205R	probably benign	Het
Gm17093	A	T	14: 44,758,139 (GRCm39)	I107F		Het
Gm7298	T	A	6: 121,761,414 (GRCm39)	C1323*	probably null	Het
Hira	T	G	16: 18,715,259 (GRCm39)	D52E	probably benign	Het
Ighv6-6	G	C	12: 114,398,525 (GRCm39)	Y80*	probably null	Het
Kat6b	C	T	14: 21,719,953 (GRCm39)	T1435I	probably damaging	Het
Kcna1	C	A	6: 126,620,443 (GRCm39)		probably benign	Het
Kif24	C	A	4: 41,392,957 (GRCm39)	R1284L	possibly damaging	Het
Kremen2	A	C	17: 23,962,314 (GRCm39)	C173G	probably damaging	Het
Krtap24-1	G	C	16: 88,408,707 (GRCm39)	Q140E	probably benign	Het
Lrrc66	C	A	5: 73,786,952 (GRCm39)	G133*	probably null	Het
Mast1	C	A	8: 85,647,987 (GRCm39)	R498L	probably damaging	Het
Myom3	T	C	4: 135,534,504 (GRCm39)	I1231T	possibly damaging	Het
Nid2	G	A	14: 19,860,131 (GRCm39)	V1350I	possibly damaging	Het
Or4f59	A	T	2: 111,872,789 (GRCm39)	V196D	possibly damaging	Het
Or8j3c	A	G	2: 86,253,484 (GRCm39)	C179R	probably damaging	Het
Or9r3	T	C	10: 129,948,350 (GRCm39)	Q103R	probably damaging	Het
Pde4a	A	G	9: 21,117,469 (GRCm39)	D577G	possibly damaging	Het
Pde4d	T	A	13: 109,578,855 (GRCm39)	N36K	probably benign	Het
Plekhg1	A	T	10: 3,907,452 (GRCm39)	S845C		Het
Plekhg1	G	A	10: 3,907,453 (GRCm39)	S845N		Het
Plod1	C	T	4: 148,004,658 (GRCm39)	D481N	probably damaging	Het
Plxna4	T	A	6: 32,493,981 (GRCm39)	M212L	probably damaging	Het
Ppip5k1	C	A	2: 121,173,282 (GRCm39)	E464*	probably null	Het
Raph1	T	A	1: 60,529,270 (GRCm39)	M664L	unknown	Het
Rbm11	A	C	16: 75,395,673 (GRCm39)	M115L	probably benign	Het
Rerg	T	C	6: 137,034,869 (GRCm39)	H45R	possibly damaging	Het
Rnf43	A	G	11: 87,618,232 (GRCm39)	E47G	probably benign	Het
Rsph1	A	G	17: 31,496,260 (GRCm39)		probably benign	Het
Safb	A	G	17: 56,892,286 (GRCm39)	E42G	unknown	Het
Scn1a	A	T	2: 66,155,182 (GRCm39)	D592E	probably damaging	Het
Sdf4	T	G	4: 156,093,379 (GRCm39)	V237G	possibly damaging	Het
Slc44a2	C	A	9: 21,258,068 (GRCm39)	H439Q	possibly damaging	Het
Smg7	A	T	1: 152,720,123 (GRCm39)	N761K	possibly damaging	Het
Snrpb2	A	G	2: 142,910,284 (GRCm39)	E114G	probably benign	Het
Spmip11	A	G	15: 98,486,548 (GRCm39)	H106R	probably benign	Het
Ssh1	T	C	5: 114,090,051 (GRCm39)	D346G	possibly damaging	Het
Svopl	T	A	6: 37,993,979 (GRCm39)	I351F	probably damaging	Het
Tgfb2	A	G	1: 186,422,942 (GRCm39)	S136P	possibly damaging	Het
Thsd7a	A	T	6: 12,317,400 (GRCm39)	L1636*	probably null	Het
Tmc2	A	G	2: 130,083,488 (GRCm39)	T482A	probably benign	Het
Tnk2	C	A	16: 32,499,080 (GRCm39)	P798T	probably damaging	Het
Trim5	T	C	7: 103,927,630 (GRCm39)	Y170C	probably damaging	Het
Ttll10	T	C	4: 156,129,213 (GRCm39)	M310V	probably null	Het
Unc13c	T	A	9: 73,643,985 (GRCm39)	T1160S	probably damaging	Het
Usp25	A	T	16: 76,904,819 (GRCm39)	D795V	probably damaging	Het
Usp28	T	A	9: 48,949,148 (GRCm39)	V914E	probably damaging	Het
Utrn	A	T	10: 12,547,558 (GRCm39)	C1627*	probably null	Het
Vmn1r28	C	A	6: 58,243,052 (GRCm39)	F298L	noncoding transcript	Het
Vps29	T	C	5: 122,500,877 (GRCm39)	S69P	possibly damaging	Het
Zfp703	T	A	8: 27,469,782 (GRCm39)	L482H	probably damaging	Het

Other mutations in H2-D1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02193:H2-D1	APN	17	35,484,785 (GRCm39)	missense	possibly damaging	0.91
IGL02207:H2-D1	APN	17	35,482,390 (GRCm39)	missense	possibly damaging	0.94
IGL02949:H2-D1	APN	17	35,483,064 (GRCm39)	missense	probably benign	0.02
Ancillum	UTSW	17	35,482,487 (GRCm39)	missense	probably damaging	0.98
subaltern	UTSW	17	35,482,913 (GRCm39)	missense	probably damaging	0.99
R0627:H2-D1	UTSW	17	35,484,898 (GRCm39)	missense	probably damaging	1.00
R0904:H2-D1	UTSW	17	35,482,837 (GRCm39)	missense	probably benign	0.00
R1238:H2-D1	UTSW	17	35,482,908 (GRCm39)	missense	probably damaging	1.00
R1500:H2-D1	UTSW	17	35,482,564 (GRCm39)	missense	probably benign	0.01
R1508:H2-D1	UTSW	17	35,482,844 (GRCm39)	missense	probably damaging	1.00
R1627:H2-D1	UTSW	17	35,482,471 (GRCm39)	missense	possibly damaging	0.79
R1730:H2-D1	UTSW	17	35,482,381 (GRCm39)	missense	probably damaging	1.00
R1804:H2-D1	UTSW	17	35,482,528 (GRCm39)	missense	probably damaging	1.00
R1964:H2-D1	UTSW	17	35,482,595 (GRCm39)	missense	probably benign	0.06
R2125:H2-D1	UTSW	17	35,483,091 (GRCm39)	critical splice donor site	probably null
R4652:H2-D1	UTSW	17	35,485,492 (GRCm39)	critical splice donor site	probably null
R4911:H2-D1	UTSW	17	35,484,973 (GRCm39)	missense	probably damaging	1.00
R4965:H2-D1	UTSW	17	35,482,881 (GRCm39)	missense	probably damaging	1.00
R5423:H2-D1	UTSW	17	35,484,883 (GRCm39)	missense	probably damaging	1.00
R6109:H2-D1	UTSW	17	35,482,913 (GRCm39)	missense	probably damaging	0.99
R7525:H2-D1	UTSW	17	35,484,909 (GRCm39)	missense	probably damaging	1.00
R7697:H2-D1	UTSW	17	35,482,121 (GRCm39)	missense	probably damaging	1.00
R7832:H2-D1	UTSW	17	35,482,848 (GRCm39)	missense	probably damaging	0.99
R7903:H2-D1	UTSW	17	35,482,967 (GRCm39)	missense	probably damaging	0.99
R8004:H2-D1	UTSW	17	35,485,672 (GRCm39)	missense	probably benign	0.00
R8465:H2-D1	UTSW	17	35,482,487 (GRCm39)	missense	probably damaging	0.98
R8786:H2-D1	UTSW	17	35,482,844 (GRCm39)	missense	probably damaging	1.00
R9188:H2-D1	UTSW	17	35,484,778 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGGGAGCTCTGGGAATC -3'
(R):5'- TCACAGGGAACATCAGACAATG -3'

Sequencing Primer
(F):5'- GAGCTCTGGGAATCCATAATAGCTC -3'
(R):5'- GAACTGAGGGCTCTGGATGTCAC -3'

Posted On

2020-07-13