Mutagenetix > Incidental Mutation

Incidental Mutation 'R9193:H2-T13'

697837

Institutional Source

Beutler Lab

Gene Symbol

H2-T13

Ensembl Gene

Gene Name

histocompatibility 2, T region locus 13

Synonyms

blastocyst MHC, H-2T13, H2-Bl

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R9193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36391007-36395115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36391956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 39 (V39A)

Ref Sequence

ENSEMBL: ENSMUSP00000138812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173080] [ENSMUST00000183560] [ENSMUST00000183999] [ENSMUST00000184502] [ENSMUST00000185087] [ENSMUST00000185167] [ENSMUST00000192532] [ENSMUST00000194244] [ENSMUST00000195833] [ENSMUST00000195838]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173080
AA Change: V313A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134155
Gene: ENSMUSG00000073406
AA Change: V313A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	1.6e-88	PFAM
IGc1	219	289	6.29e-19	SMART
transmembrane domain	305	327	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183560
AA Change: V39A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138812
Gene: ENSMUSG00000073406
AA Change: V39A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
transmembrane domain	32	54	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183999
AA Change: V53A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139165
Gene: ENSMUSG00000073406
AA Change: V53A

Domain	Start	End	E-Value	Type
low complexity region	6	14	N/A	INTRINSIC
SCOP:d1dr9a2	21	36	4e-5	SMART
transmembrane domain	46	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184502
AA Change: V221A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139275
Gene: ENSMUSG00000073406
AA Change: V221A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	6.8e-89	PFAM
transmembrane domain	214	236	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185087

SMART Domains

Protein: ENSMUSP00000139166
Gene: ENSMUSG00000073406

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	113	5.2e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185167

SMART Domains

Protein: ENSMUSP00000139373
Gene: ENSMUSG00000073406

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000142113
Gene: ENSMUSG00000073406
AA Change: V303A

Domain	Start	End	E-Value	Type
Pfam:MHC_I	12	190	1.4e-88	PFAM
IGc1	209	279	6.29e-19	SMART
transmembrane domain	295	317	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194244
AA Change: V221A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141809
Gene: ENSMUSG00000073406
AA Change: V221A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	118	2.9e-43	PFAM
IGc1	127	197	6.29e-19	SMART
transmembrane domain	213	235	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000195833
AA Change: V210A

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

SMART Domains

Protein: ENSMUSP00000141271
Gene: ENSMUSG00000073406
AA Change: V210A

Domain	Start	End	E-Value	Type
Pfam:MHC_I	12	107	1.8e-37	PFAM
IGc1	116	186	6.29e-19	SMART
transmembrane domain	202	224	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195838
AA Change: V302A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141253
Gene: ENSMUSG00000073406
AA Change: V302A

Domain	Start	End	E-Value	Type
Pfam:MHC_I	12	189	1e-82	PFAM
IGc1	208	278	6.29e-19	SMART
transmembrane domain	294	316	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,520,391 (GRCm39)	K79M	probably benign	Het
Amy1	T	C	3: 113,356,278 (GRCm39)	K293E	probably benign	Het
Bcl2l10	A	G	9: 75,255,333 (GRCm39)	Q50R	probably benign	Het
Bpifa6	G	A	2: 153,826,740 (GRCm39)	G35D	probably benign	Het
Cachd1	C	A	4: 100,634,339 (GRCm39)	P5Q	unknown	Het
Capn13	A	T	17: 73,652,191 (GRCm39)	I266N	probably damaging	Het
Chil3	A	G	3: 106,063,081 (GRCm39)	S170P	possibly damaging	Het
Ckap4	A	G	10: 84,363,350 (GRCm39)	I571T	probably damaging	Het
Col14a1	A	G	15: 55,242,964 (GRCm39)	M371V	unknown	Het
Dag1	A	G	9: 108,085,467 (GRCm39)	L558P	possibly damaging	Het
Edem3	G	A	1: 151,694,270 (GRCm39)	E868K	probably benign	Het
Eif3k	T	C	7: 28,673,624 (GRCm39)	Y150C	probably damaging	Het
Farp1	T	C	14: 121,518,281 (GRCm39)	I988T	probably benign	Het
Fat3	A	G	9: 15,910,248 (GRCm39)	M1918T	probably benign	Het
Gba2	A	G	4: 43,578,112 (GRCm39)	I79T	probably benign	Het
Gbp8	T	C	5: 105,179,169 (GRCm39)	D110G	probably damaging	Het
Gm57858	G	T	3: 36,089,428 (GRCm39)	N165K	probably benign	Het
H2-M2	T	A	17: 37,793,428 (GRCm39)	M193L	probably benign	Het
Ighv7-1	T	A	12: 113,860,110 (GRCm39)	D94V	probably damaging	Het
Il2ra	T	C	2: 11,689,202 (GRCm39)	F244L	possibly damaging	Het
Jag1	A	T	2: 136,931,764 (GRCm39)	H602Q	probably null	Het
Kidins220	A	T	12: 25,036,966 (GRCm39)	I16F	possibly damaging	Het
Klb	A	G	5: 65,529,368 (GRCm39)	T299A	possibly damaging	Het
Lama4	A	G	10: 38,951,444 (GRCm39)	K1063R	probably benign	Het
Lrit2	A	G	14: 36,794,550 (GRCm39)	E538G	possibly damaging	Het
Lrrc7	A	T	3: 158,059,011 (GRCm39)	L32*	probably null	Het
Lrrtm3	A	T	10: 63,765,883 (GRCm39)	I568N	probably damaging	Het
Myom1	A	G	17: 71,343,295 (GRCm39)	D164G	probably damaging	Het
Naaladl2	T	C	3: 23,900,742 (GRCm39)	D696G	probably damaging	Het
Nalcn	A	T	14: 123,545,792 (GRCm39)	L1073*	probably null	Het
Nid2	T	C	14: 19,853,278 (GRCm39)	S1166P	probably damaging	Het
Nlrp4c	T	C	7: 6,095,621 (GRCm39)	V833A	probably benign	Het
Nyap2	T	C	1: 81,275,712 (GRCm39)	S619P	probably damaging	Het
Or10d5j	T	C	9: 39,867,878 (GRCm39)	M118V	probably damaging	Het
Or2a20	A	T	6: 43,194,086 (GRCm39)	T80S	probably benign	Het
Or4a71	A	G	2: 89,357,987 (GRCm39)	Y256H	probably damaging	Het
Or8k16	C	A	2: 85,520,644 (GRCm39)	Y290*	probably null	Het
P3h2	T	C	16: 25,923,991 (GRCm39)	N148S	probably benign	Het
P4htm	A	G	9: 108,460,081 (GRCm39)	M231T	probably damaging	Het
Pank1	T	A	19: 34,804,634 (GRCm39)	K349I	possibly damaging	Het
Pgam5	A	G	5: 110,413,466 (GRCm39)	Y210H	probably benign	Het
Prb1b	T	C	6: 132,288,996 (GRCm39)	H276R	unknown	Het
Prl2a1	T	A	13: 27,992,535 (GRCm39)	C220S	probably damaging	Het
Psca	C	T	15: 74,587,932 (GRCm39)	Q39*	probably null	Het
Rgs20	A	T	1: 5,091,067 (GRCm39)	M121K	possibly damaging	Het
S100z	C	T	13: 95,613,883 (GRCm39)	V76M	possibly damaging	Het
Slc30a10	T	C	1: 185,195,034 (GRCm39)	I282T	probably damaging	Het
Slc30a3	T	C	5: 31,246,088 (GRCm39)	Y214C	probably damaging	Het
Sox5	C	T	6: 143,790,570 (GRCm39)	E497K	probably benign	Het
Spata31g1	A	G	4: 42,971,519 (GRCm39)	D284G	probably benign	Het
Sptbn1	C	T	11: 30,087,551 (GRCm39)	E963K	possibly damaging	Het
Srl	T	C	16: 4,311,723 (GRCm39)	E465G	possibly damaging	Het
Tacc2	T	C	7: 130,228,304 (GRCm39)	M1663T	probably benign	Het
Tas2r119	T	G	15: 32,177,932 (GRCm39)	V166G	probably benign	Het
Tcf7l1	A	G	6: 72,611,205 (GRCm39)	V191A	probably damaging	Het
Thap7	A	T	16: 17,346,901 (GRCm39)	I92K	probably damaging	Het
Tnfsf10	A	G	3: 27,371,407 (GRCm39)	T38A	possibly damaging	Het
Trav7-5	C	G	14: 53,768,615 (GRCm39)	A61G	probably benign	Het
Trim30c	C	T	7: 104,031,553 (GRCm39)	V421I	probably benign	Het
Ugt2b38	A	T	5: 87,571,729 (GRCm39)	M101K	probably benign	Het
Vmn1r44	T	A	6: 89,870,565 (GRCm39)	C104S	probably damaging	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp735	A	T	11: 73,580,600 (GRCm39)	Y33F	possibly damaging	Het

Other mutations in H2-T13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0396:H2-T13	UTSW	17	36,394,614 (GRCm39)	missense	possibly damaging	0.47
R0412:H2-T13	UTSW	17	36,392,413 (GRCm39)	splice site	probably benign
R0924:H2-T13	UTSW	17	36,394,824 (GRCm39)	missense	probably damaging	1.00
R1170:H2-T13	UTSW	17	36,391,983 (GRCm39)	missense	possibly damaging	0.66
R1211:H2-T13	UTSW	17	36,391,965 (GRCm39)	missense	probably damaging	1.00
R1902:H2-T13	UTSW	17	36,394,845 (GRCm39)	missense	probably damaging	1.00
R1913:H2-T13	UTSW	17	36,391,908 (GRCm39)	missense	probably damaging	0.99
R1992:H2-T13	UTSW	17	36,391,938 (GRCm39)	missense	probably damaging	0.98
R5538:H2-T13	UTSW	17	36,392,178 (GRCm39)	missense	probably benign	0.35
R6021:H2-T13	UTSW	17	36,392,166 (GRCm39)	missense	probably damaging	1.00
R7091:H2-T13	UTSW	17	36,394,833 (GRCm39)	missense	possibly damaging	0.94
R7200:H2-T13	UTSW	17	36,391,938 (GRCm39)	missense	possibly damaging	0.83
R7711:H2-T13	UTSW	17	36,394,770 (GRCm39)	missense	probably damaging	0.98
R8479:H2-T13	UTSW	17	36,395,111 (GRCm39)	missense	probably damaging	1.00
R9183:H2-T13	UTSW	17	36,392,382 (GRCm39)	missense	unknown
R9375:H2-T13	UTSW	17	36,391,993 (GRCm39)	missense	possibly damaging	0.66
R9582:H2-T13	UTSW	17	36,392,375 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATCTTGACCCTAGGAAGTTCCCAG -3'
(R):5'- ATGTGTACCATGAGGGGCTG -3'

Sequencing Primer
(F):5'- GTTCCCAGAACTGACAGAGGAC -3'
(R):5'- ATGAGGGGCTGCCTGAG -3'

Posted On

2022-02-07