Mutagenetix > Incidental Mutation

Incidental Mutation 'R7525:H2-D1'

582946

Institutional Source

Beutler Lab

Gene Symbol

H2-D1

Ensembl Gene

ENSMUSG00000073411

Gene Name

histocompatibility 2, D region locus 1

Synonyms

H-2D

MMRRC Submission

045597-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R7525 (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 35484909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 257 (T257A)

Ref Sequence

ENSEMBL: ENSMUSP00000134570 (fasta)

Gene Model

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

AlphaFold

no structure available at present

PDB Structure

CRYSTAL STRUCTURE OF MURINE CLASS I MHC H2-DB COMPLEXED WITH A SYNTHETIC PEPTIDE P1027 [X-RAY DIFFRACTION]
MHC CLASS I H-2DB COMPLEXED WITH A SENDAI VIRUS NUCLEOPROTEIN PEPTIDE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH PEPTIDE GP33(C9M) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH SYNTHETIC PEPTIDE GP33 (C9M/K1A) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH PEPTIDE GP33 (C9M/K1S) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE LCMV PEPTIDIC EPITOPE GP33 IN COMPLEX WITH THE MURINE CLASS I MHC MOLECULE H-2DB [X-RAY DIFFRACTION]
THE THREE-DIMENSIONAL STRUCTURE OF H-2DB AT 2.4 ANGSTROMS RESOLUTION: IMPLICATIONS FOR ANTIGEN-DETERMINANT SELECTION [X-RAY DIFFRACTION]
Structure of Minor Histocompatibility Antigen peptide, H13a, complexed to H2-Db [X-RAY DIFFRACTION]
Crystal Structure Of The LCMV Peptidic Epitope Gp276 In Complex With The Murine Class I Mhc Molecule H-2Db [X-RAY DIFFRACTION]
Crystal Structure Of The LCMV Peptidic Epitope Np396 In Complex With The Murine Class I Mhc Molecule H-2Db [X-RAY DIFFRACTION]
>> 46 additional structures at PDB <<

Predicted Effect

probably benign
Transcript: ENSMUST00000172503

SMART Domains

Protein: ENSMUSP00000134582
Gene: ENSMUSG00000073411

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 damaging
Transcript: ENSMUST00000172785
AA Change: T257A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134570
Gene: ENSMUSG00000073411
AA Change: T257A

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

probably benign
Transcript: ENSMUST00000173167

SMART Domains

Protein: ENSMUSP00000133518
Gene: ENSMUSG00000073411

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,331,221 (GRCm39)	T998A	probably damaging	Het
Aadacl4fm2	A	G	4: 144,291,580 (GRCm39)	F42S	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Akt3	T	A	1: 176,847,673 (GRCm39)	K465*	probably null	Het
Ankar	T	C	1: 72,727,800 (GRCm39)	D371G	probably benign	Het
Ankib1	T	G	5: 3,805,734 (GRCm39)	N178H	possibly damaging	Het
Arhgap10	A	G	8: 78,146,699 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,848,785 (GRCm39)	D286G	probably damaging	Het
Bsdc1	A	T	4: 129,355,477 (GRCm39)		probably benign	Het
Camk4	T	C	18: 33,318,085 (GRCm39)	V414A	probably benign	Het
Cyp2d9	T	A	15: 82,338,293 (GRCm39)	V139E	possibly damaging	Het
Dhrs13	C	A	11: 77,923,260 (GRCm39)	N21K	unknown	Het
Dop1a	C	T	9: 86,388,343 (GRCm39)	A439V	probably damaging	Het
Dpy19l4	G	A	4: 11,317,160 (GRCm39)	Q13*	probably null	Het
Ecpas	A	G	4: 58,847,038 (GRCm39)	I508T	possibly damaging	Het
Eif2ak1	T	C	5: 143,823,716 (GRCm39)	S388P	probably damaging	Het
Emilin2	T	C	17: 71,581,974 (GRCm39)	S251G	probably benign	Het
Eml4	T	A	17: 83,753,379 (GRCm39)	L350Q	probably damaging	Het
Fblim1	A	T	4: 141,317,391 (GRCm39)	L98H	probably damaging	Het
Fcrl6	T	A	1: 172,425,239 (GRCm39)	N264I	probably benign	Het
Gzme	A	C	14: 56,356,790 (GRCm39)	D57E	probably benign	Het
Hectd4	C	A	5: 121,481,728 (GRCm39)	D3092E	possibly damaging	Het
Hrc	A	G	7: 44,985,803 (GRCm39)	E318G	probably benign	Het
Hspbp1	A	G	7: 4,666,435 (GRCm39)	L315P	probably damaging	Het
Insr	A	T	8: 3,242,642 (GRCm39)	Y591N	probably damaging	Het
Lrch4	T	A	5: 137,637,727 (GRCm39)	I582N	probably damaging	Het
Lrit2	A	G	14: 36,794,450 (GRCm39)	K505E	possibly damaging	Het
Lrp1b	A	T	2: 40,547,428 (GRCm39)	N4251K		Het
Mfsd13a	T	C	19: 46,357,716 (GRCm39)	F290S	probably damaging	Het
Mgam	T	G	6: 40,742,954 (GRCm39)	N1791K	probably benign	Het
Mroh7	A	T	4: 106,566,899 (GRCm39)	I450N	probably benign	Het
Mylk	G	A	16: 34,809,357 (GRCm39)	M1771I	probably benign	Het
Or10ak12	A	T	4: 118,666,691 (GRCm39)	F123L	probably damaging	Het
Or51aa2	A	T	7: 103,188,338 (GRCm39)	C34*	probably null	Het
Or8d1	A	T	9: 38,766,534 (GRCm39)	M59L	possibly damaging	Het
Or8g55	T	A	9: 39,785,435 (GRCm39)	L288*	probably null	Het
Parp14	A	T	16: 35,677,861 (GRCm39)	H702Q	probably benign	Het
Pcdhga1	T	C	18: 37,795,281 (GRCm39)	L95P	probably damaging	Het
Pcsk5	T	C	19: 17,619,954 (GRCm39)	T373A	probably damaging	Het
Pdzph1	A	G	17: 59,274,336 (GRCm39)	V836A	possibly damaging	Het
Pgap1	T	A	1: 54,570,081 (GRCm39)	N322I	probably benign	Het
Pikfyve	C	T	1: 65,283,585 (GRCm39)	R741*	probably null	Het
Pip4k2c	A	G	10: 127,044,773 (GRCm39)	S80P	probably damaging	Het
Plekhh3	A	G	11: 101,057,445 (GRCm39)	F271L	probably damaging	Het
Prkdc	A	T	16: 15,490,191 (GRCm39)	Y565F	probably damaging	Het
Prom2	T	C	2: 127,374,701 (GRCm39)	R612G	probably benign	Het
Psap	T	C	10: 60,135,253 (GRCm39)	V303A	probably benign	Het
Ptch1	C	T	13: 63,659,528 (GRCm39)	R1375H	probably benign	Het
Slc24a3	A	C	2: 145,455,450 (GRCm39)	K446N	probably benign	Het
Slc39a12	T	A	2: 14,499,272 (GRCm39)	M661K	probably benign	Het
Slc6a16	T	C	7: 44,908,537 (GRCm39)	L39P	probably benign	Het
Syne1	T	G	10: 5,135,559 (GRCm39)		probably null	Het
Taar8c	T	C	10: 23,977,764 (GRCm39)	N16S	probably benign	Het
Tmem98	A	G	11: 80,708,344 (GRCm39)	T105A	probably damaging	Het
Tmub1	T	A	5: 24,651,011 (GRCm39)	Y216F	probably damaging	Het
Trim16	T	G	11: 62,711,580 (GRCm39)	C84G	probably damaging	Het
Ttn	T	A	2: 76,561,573 (GRCm39)	K28978*	probably null	Het
Usp38	A	G	8: 81,740,875 (GRCm39)	V64A	probably damaging	Het
Vmn2r63	A	T	7: 42,576,406 (GRCm39)	F469Y	possibly damaging	Het
Vmn2r74	A	G	7: 85,610,510 (GRCm39)	W61R	probably benign	Het
Whamm	G	T	7: 81,243,598 (GRCm39)	G607C	probably damaging	Het
Xkr6	G	T	14: 64,056,610 (GRCm39)	V430F	probably benign	Het
Zfp398	A	G	6: 47,842,752 (GRCm39)	D268G	probably benign	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
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
R8167:H2-D1	UTSW	17	35,485,741 (GRCm39)	missense
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'- TGGTCACTAGTGCAATGACAG -3'
(R):5'- GGTTATGACCCCAGCTCTCATC -3'

Sequencing Primer
(F):5'- CACTAGTGCAATGACAGTGTAGTGTC -3'
(R):5'- CAGCTCAGGGTCTGCAGAAG -3'

Posted On

2019-10-17