Mutagenetix > Incidental Mutation

Incidental Mutation 'R6109:H2-D1'

484749

Institutional Source

Beutler Lab

Gene Symbol

H2-D1

Ensembl Gene

ENSMUSG00000073411

Gene Name

histocompatibility 2, D region locus 1

Synonyms

H-2D

MMRRC Submission

044259-MU

Accession Numbers

Essential gene?

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

Stock #

R6109 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35482070-35486473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35482913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 148 (I148F)

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: I148F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134570
Gene: ENSMUSG00000073411
AA Change: I148F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174325

Meta Mutation Damage Score

0.5169

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

100% (64/64)

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
Abcc10	T	C	17: 46,621,303 (GRCm39)	Y950C	probably benign	Het
Acadm	A	G	3: 153,647,580 (GRCm39)	C20R	probably damaging	Het
Agtpbp1	G	T	13: 59,621,560 (GRCm39)	T984K	probably damaging	Het
Agxt2	C	T	15: 10,377,508 (GRCm39)	T136I	probably damaging	Het
Ankrd36	C	A	11: 5,578,941 (GRCm39)	N68K	probably damaging	Het
Ap3b2	T	A	7: 81,143,340 (GRCm39)	D10V	possibly damaging	Het
Apcdd1	A	T	18: 63,070,437 (GRCm39)	I235F	probably damaging	Het
Arhgap32	T	A	9: 32,171,407 (GRCm39)	W1396R	probably damaging	Het
Ascc3	A	G	10: 50,525,343 (GRCm39)	T513A	probably benign	Het
Aym1	C	T	5: 113,505,407 (GRCm39)	L9F	unknown	Het
Btnl10	C	A	11: 58,811,130 (GRCm39)	S151Y	probably damaging	Het
Camk2a	A	T	18: 61,076,306 (GRCm39)	K95*	probably null	Het
Ccdc40	T	C	11: 119,122,804 (GRCm39)	V202A	probably benign	Het
Cd200r3	T	A	16: 44,774,045 (GRCm39)	D152E	probably benign	Het
Cd2bp2	C	T	7: 126,793,987 (GRCm39)	D101N	probably damaging	Het
Cdh20	G	A	1: 104,921,739 (GRCm39)	D679N	probably damaging	Het
Clpx	C	T	9: 65,207,234 (GRCm39)	T44I	probably benign	Het
Cnnm4	T	G	1: 36,537,560 (GRCm39)	V541G	probably damaging	Het
Csmd1	T	C	8: 16,249,874 (GRCm39)	I1035V	possibly damaging	Het
Ctsw	T	C	19: 5,517,147 (GRCm39)	S62G	probably benign	Het
Dlk2	T	A	17: 46,612,623 (GRCm39)	Y109N	probably damaging	Het
Ebf3	C	T	7: 136,807,955 (GRCm39)	V363M	probably damaging	Het
Farsb	A	G	1: 78,439,907 (GRCm39)		probably null	Het
Fastkd3	C	T	13: 68,738,337 (GRCm39)	Q32*	probably null	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxl3	C	A	5: 138,805,850 (GRCm39)	Q6K	probably damaging	Het
Gk5	C	A	9: 96,022,663 (GRCm39)	F166L	probably benign	Het
Gm11271	G	T	13: 21,565,309 (GRCm39)		noncoding transcript	Het
Gnat2	T	A	3: 108,007,451 (GRCm39)	Y290N	probably damaging	Het
Hdac2	A	G	10: 36,862,385 (GRCm39)	D83G	probably null	Het
Kdm5d	T	C	Y: 921,501 (GRCm39)	W500R	probably damaging	Het
Kel	A	T	6: 41,665,796 (GRCm39)	F489I	probably benign	Het
Kmo	C	A	1: 175,465,474 (GRCm39)	A76E	possibly damaging	Het
Krt32	T	C	11: 99,978,791 (GRCm39)	T88A	probably benign	Het
Lce3b	A	G	3: 92,840,994 (GRCm39)	T30A	unknown	Het
Lcn11	A	G	2: 25,669,308 (GRCm39)	H155R	possibly damaging	Het
Lmln	T	A	16: 32,889,481 (GRCm39)	I129N	possibly damaging	Het
Meiob	A	G	17: 25,031,993 (GRCm39)	K3E	probably benign	Het
Mitf	C	T	6: 97,973,429 (GRCm39)	T229M	probably damaging	Het
Ms4a20	T	C	19: 11,079,276 (GRCm39)	M131V	possibly damaging	Het
Muc16	T	C	9: 18,566,655 (GRCm39)	I1955V	unknown	Het
Naip1	A	G	13: 100,563,690 (GRCm39)	C492R	probably damaging	Het
Ncor2	C	T	5: 125,132,910 (GRCm39)	A26T	probably damaging	Het
Ngfr	T	G	11: 95,468,883 (GRCm39)	D165A	probably damaging	Het
Nobox	A	T	6: 43,282,103 (GRCm39)	S323R	probably damaging	Het
Or51ac3	T	C	7: 103,214,346 (GRCm39)	I47V	probably benign	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or8g23	A	G	9: 38,971,492 (GRCm39)	S157P	probably benign	Het
Pcdhb1	G	T	18: 37,398,306 (GRCm39)	V86F	possibly damaging	Het
Pdk1	A	G	2: 71,713,850 (GRCm39)	E165G	probably benign	Het
Peak1	C	T	9: 56,166,567 (GRCm39)	V454I	probably benign	Het
Rad9b	C	T	5: 122,482,360 (GRCm39)	G125D	probably damaging	Het
S100a16	T	C	3: 90,449,381 (GRCm39)	F19L	probably damaging	Het
Serpine2	T	C	1: 79,788,388 (GRCm39)	K190E	probably damaging	Het
Slf1	A	T	13: 77,274,799 (GRCm39)	M12K	probably damaging	Het
Tex101	T	C	7: 24,367,738 (GRCm39)	T205A	possibly damaging	Het
Tssk5	T	C	15: 76,257,916 (GRCm39)	E147G	probably damaging	Het
Ubr4	A	G	4: 139,144,675 (GRCm39)	T1495A	probably damaging	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Wdr70	A	T	15: 8,108,638 (GRCm39)		probably null	Het
Zfp811	T	A	17: 33,016,348 (GRCm39)		probably null	Het
Zscan10	T	A	17: 23,826,103 (GRCm39)	F88L	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
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
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'- TCCCTTTCAGTTTGGAGGAGTC -3'
(R):5'- AGGGTTTCTTCTTCCCCAGGAC -3'

Sequencing Primer
(F):5'- AGATGTCTGGCTGTGACT -3'
(R):5'- TCTTCCCCAGGACTGAGC -3'

Posted On

2017-08-16