Mutagenetix > Incidental Mutation

Incidental Mutation 'R5254:H2-K1'

399409

Institutional Source

Beutler Lab

Gene Symbol

H2-K1

Ensembl Gene

ENSMUSG00000061232

Gene Name

histocompatibility 2, K1, K region

Synonyms

H-2K

MMRRC Submission

042825-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R5254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33996017-34000333 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33997462 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 237 (T237A)

Ref Sequence

ENSEMBL: ENSMUSP00000134004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025181] [ENSMUST00000087189] [ENSMUST00000172912] [ENSMUST00000173075]

AlphaFold

P01901

Predicted Effect

probably damaging
Transcript: ENSMUST00000025181
AA Change: T237A

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

SMART Domains

Protein: ENSMUSP00000025181
Gene: ENSMUSG00000061232
AA Change: T237A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	1.4e-95	PFAM
IGc1	219	290	9.98e-22	SMART
transmembrane domain	306	328	N/A	INTRINSIC
Pfam:MHC_I_C	335	359	2.3e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000087189
AA Change: T55A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000084436
Gene: ENSMUSG00000061232
AA Change: T55A

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
IGc1	37	108	9.98e-22	SMART
low complexity region	124	143	N/A	INTRINSIC
Pfam:MHC_I_C	152	177	5.9e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000114311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172782

Predicted Effect

probably damaging
Transcript: ENSMUST00000172912
AA Change: T237A

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

SMART Domains

Protein: ENSMUSP00000134004
Gene: ENSMUSG00000061232
AA Change: T237A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	6.7e-97	PFAM
IGc1	219	290	9.98e-22	SMART
transmembrane domain	306	328	N/A	INTRINSIC
Pfam:MHC_I_C	334	359	9.3e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173075
AA Change: T257A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133847
Gene: ENSMUSG00000061232
AA Change: T257A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	42	220	3.7e-97	PFAM
Pfam:C1-set	229	289	4.2e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173602

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (82/84)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions of this gene display T-cell abnormalities and abnormal susceptibility to various viral infections. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,458,398 (GRCm38)	C296*	probably null	Het
Adam11	T	A	11: 102,774,272 (GRCm38)	Y413*	probably null	Het
Ankhd1	A	G	18: 36,656,715 (GRCm38)	I907V	probably benign	Het
Arrdc5	A	G	17: 56,297,897 (GRCm38)	I130T	probably benign	Het
Asic5	T	A	3: 82,020,987 (GRCm38)	I419K	probably damaging	Het
Atp4a	A	T	7: 30,715,530 (GRCm38)	E248V	probably damaging	Het
Avil	C	A	10: 127,011,761 (GRCm38)	V154L	probably benign	Het
Bclaf1	T	A	10: 20,323,536 (GRCm38)	H226Q	possibly damaging	Het
Cald1	A	G	6: 34,746,416 (GRCm38)		probably benign	Het
Cd200r4	A	C	16: 44,832,090 (GRCm38)	D27A	possibly damaging	Het
Cdsn	T	A	17: 35,552,202 (GRCm38)	M1K	probably null	Het
Cfap46	T	A	7: 139,678,514 (GRCm38)	H281L	possibly damaging	Het
Chaf1a	T	C	17: 56,062,606 (GRCm38)	F533L	probably benign	Het
Chil4	T	A	3: 106,219,452 (GRCm38)	I5F	probably benign	Het
Ctu2	A	T	8: 122,476,588 (GRCm38)	R48W	probably damaging	Het
Daam1	A	T	12: 71,946,576 (GRCm38)	H373L	unknown	Het
Dcaf10	T	A	4: 45,370,415 (GRCm38)	Y328N	possibly damaging	Het
Dst	A	T	1: 34,177,931 (GRCm38)	K1151*	probably null	Het
Ect2	T	C	3: 27,130,070 (GRCm38)	D503G	probably damaging	Het
Epm2a	C	A	10: 11,457,345 (GRCm38)	D307E	probably benign	Het
Exph5	A	T	9: 53,337,930 (GRCm38)	D73V	probably damaging	Het
Fam20b	C	T	1: 156,705,740 (GRCm38)	G102D	probably damaging	Het
Fat2	T	C	11: 55,281,175 (GRCm38)	N2904S	probably damaging	Het
Flt3	T	A	5: 147,375,690 (GRCm38)	Q147L	possibly damaging	Het
Fndc11	A	G	2: 181,222,163 (GRCm38)	T254A	possibly damaging	Het
Galnt15	C	T	14: 32,058,287 (GRCm38)	R514*	probably null	Het
Gbgt1	A	G	2: 28,505,208 (GRCm38)	D286G	probably damaging	Het
Ggt1	T	A	10: 75,579,198 (GRCm38)		probably null	Het
Gm26526	A	T	7: 39,589,234 (GRCm38)		noncoding transcript	Het
Igf1r	T	A	7: 68,207,319 (GRCm38)	S1010T	probably damaging	Het
Il21	T	C	3: 37,227,735 (GRCm38)	T87A	possibly damaging	Het
Kmt2b	G	A	7: 30,569,175 (GRCm38)	R2010C	probably damaging	Het
Kmt2c	G	A	5: 25,314,594 (GRCm38)	P2173S	probably benign	Het
Krt1	A	T	15: 101,846,368 (GRCm38)	S512T	unknown	Het
Krtap16-1	G	A	11: 99,985,598 (GRCm38)	R327*	probably null	Het
Lama1	T	A	17: 67,756,716 (GRCm38)	I745N	probably benign	Het
Lrrk1	T	A	7: 66,307,107 (GRCm38)	N372I	probably benign	Het
Lyst	A	T	13: 13,683,070 (GRCm38)	E2481D	probably benign	Het
Map2k1	A	T	9: 64,187,745 (GRCm38)		probably benign	Het
Mbip	A	G	12: 56,337,443 (GRCm38)	V215A	probably damaging	Het
Mdc1	T	A	17: 35,847,922 (GRCm38)	V398D	probably benign	Het
Mog	T	G	17: 37,012,372 (GRCm38)	I225L	probably benign	Het
Mrgprx3-ps	T	A	7: 47,309,436 (GRCm38)		noncoding transcript	Het
Muc5b	C	T	7: 141,864,540 (GRCm38)	S3741L	probably benign	Het
Myo5a	A	T	9: 75,130,120 (GRCm38)	I202F	probably damaging	Het
Myo5b	A	T	18: 74,700,606 (GRCm38)	I818F	possibly damaging	Het
Nfia	T	A	4: 98,014,297 (GRCm38)	M262K	probably damaging	Het
Nisch	C	T	14: 31,206,567 (GRCm38)		probably null	Het
Nkd1	A	G	8: 88,589,194 (GRCm38)	D64G	probably damaging	Het
Nt5c2	T	A	19: 46,893,560 (GRCm38)	K284*	probably null	Het
Olfr1052	A	T	2: 86,297,921 (GRCm38)	Y35F	probably damaging	Het
Olfr1058	A	T	2: 86,386,140 (GRCm38)	S93T	possibly damaging	Het
Olfr262	A	G	19: 12,241,248 (GRCm38)	S138P	probably damaging	Het
Olfr305	A	T	7: 86,364,190 (GRCm38)	V49E	possibly damaging	Het
Olfr619	T	G	7: 103,603,789 (GRCm38)	I45R	probably benign	Het
Olfr723	A	T	14: 49,928,779 (GRCm38)	I255N	probably damaging	Het
Olfr725	C	A	14: 50,034,678 (GRCm38)	A242S	possibly damaging	Het
Olfr972	A	T	9: 39,873,445 (GRCm38)	T57S	possibly damaging	Het
Pcdhb17	A	T	18: 37,486,825 (GRCm38)	D556V	probably damaging	Het
Pcdhga8	A	T	18: 37,726,620 (GRCm38)	D243V	probably benign	Het
Polq	A	T	16: 37,089,319 (GRCm38)	Q2355L	probably damaging	Het
Slc22a30	G	A	19: 8,344,393 (GRCm38)	Q436*	probably null	Het
Slc5a4a	C	A	10: 76,182,738 (GRCm38)	Y506*	probably null	Het
Sp110	G	C	1: 85,577,202 (GRCm38)		probably benign	Het
Tarbp1	G	A	8: 126,467,156 (GRCm38)	H336Y	probably damaging	Het
Tas2r134	T	G	2: 51,627,547 (GRCm38)	F13V	probably benign	Het
Tgfb2	A	G	1: 186,704,483 (GRCm38)	Y98H	probably damaging	Het
Tmprss11a	C	A	5: 86,411,806 (GRCm38)	V376L	probably damaging	Het
Tmprss11f	T	A	5: 86,538,033 (GRCm38)	K158N	probably benign	Het
Tnip2	G	T	5: 34,503,578 (GRCm38)	Q177K	probably damaging	Het
Trp53inp1	T	A	4: 11,165,075 (GRCm38)		probably null	Het
Ttc28	C	T	5: 111,271,238 (GRCm38)	P1398S	probably benign	Het
Umodl1	T	G	17: 30,980,359 (GRCm38)	I308S	possibly damaging	Het
Vcan	A	T	13: 89,691,600 (GRCm38)	S1942T	probably damaging	Het
Vmn2r124	T	A	17: 18,063,077 (GRCm38)	N344K	probably benign	Het
Vmn2r25	C	G	6: 123,825,318 (GRCm38)	C542S	probably damaging	Het
Wiz	T	A	17: 32,378,496 (GRCm38)		probably benign	Het
Wrap73	A	G	4: 154,155,346 (GRCm38)	Y343C	probably benign	Het

Other mutations in H2-K1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02189:H2-K1	APN	17	33,999,492 (GRCm38)	missense	probably damaging	1.00
FR4548:H2-K1	UTSW	17	33,997,042 (GRCm38)	unclassified	probably benign
FR4976:H2-K1	UTSW	17	33,997,042 (GRCm38)	unclassified	probably benign
R0254:H2-K1	UTSW	17	33,996,665 (GRCm38)	unclassified	probably benign
R0520:H2-K1	UTSW	17	33,997,416 (GRCm38)	missense	probably damaging	1.00
R0540:H2-K1	UTSW	17	33,999,500 (GRCm38)	missense	probably damaging	1.00
R0607:H2-K1	UTSW	17	33,999,500 (GRCm38)	missense	probably damaging	1.00
R1282:H2-K1	UTSW	17	33,999,447 (GRCm38)	missense	probably damaging	1.00
R1785:H2-K1	UTSW	17	33,997,348 (GRCm38)	nonsense	probably null
R2307:H2-K1	UTSW	17	33,997,139 (GRCm38)	missense	probably benign	0.26
R3791:H2-K1	UTSW	17	33,999,525 (GRCm38)	missense	probably benign	0.02
R3847:H2-K1	UTSW	17	33,997,329 (GRCm38)	missense	probably damaging	1.00
R4008:H2-K1	UTSW	17	33,999,551 (GRCm38)	splice site	probably benign
R4324:H2-K1	UTSW	17	34,000,040 (GRCm38)	missense	possibly damaging	0.76
R4470:H2-K1	UTSW	17	34,000,061 (GRCm38)	missense	probably benign	0.20
R4543:H2-K1	UTSW	17	33,999,558 (GRCm38)	splice site	probably null
R4858:H2-K1	UTSW	17	33,997,324 (GRCm38)	missense	probably benign	0.05
R4921:H2-K1	UTSW	17	33,997,076 (GRCm38)	missense	possibly damaging	0.65
R5269:H2-K1	UTSW	17	33,997,015 (GRCm38)	unclassified	probably benign
R6058:H2-K1	UTSW	17	33,999,331 (GRCm38)	missense	probably benign
R6058:H2-K1	UTSW	17	33,999,330 (GRCm38)	missense	probably benign	0.02
R7941:H2-K1	UTSW	17	33,999,331 (GRCm38)	missense	probably benign
R8057:H2-K1	UTSW	17	33,996,859 (GRCm38)	missense	possibly damaging	0.63
R8938:H2-K1	UTSW	17	33,997,320 (GRCm38)	missense	probably damaging	1.00
R9355:H2-K1	UTSW	17	33,997,146 (GRCm38)	missense	probably benign	0.01
R9625:H2-K1	UTSW	17	34,000,001 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAGGGTCTGCAGAAAGCTC -3'
(R):5'- AGTGCGATGACAGTTGAAGTGTC -3'

Sequencing Primer
(F):5'- TGACCCCAGCTCTGCAC -3'
(R):5'- GACACATAGTTCACTGTCATCATTG -3'

Posted On

2016-07-06