Mutagenetix > Incidental Mutation

Incidental Mutation 'R1211:H2-T13'

100709

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

039280-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36391007-36395115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36391965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 207 (V207D)

Ref Sequence

ENSEMBL: ENSMUSP00000141271 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000173080
AA Change: V310D

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

SMART Domains

Protein: ENSMUSP00000134155
Gene: ENSMUSG00000073406
AA Change: V310D

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

probably damaging
Transcript: ENSMUST00000174067
AA Change: V218D

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

SMART Domains

Protein: ENSMUSP00000133982
Gene: ENSMUSG00000073406
AA Change: V218D

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	22	200	6.3e-87	PFAM
transmembrane domain	214	236	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183560
AA Change: V36D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138812
Gene: ENSMUSG00000073406
AA Change: V36D

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: V50D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139165
Gene: ENSMUSG00000073406
AA Change: V50D

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 damaging
Transcript: ENSMUST00000184502
AA Change: V218D

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

SMART Domains

Protein: ENSMUSP00000139275
Gene: ENSMUSG00000073406
AA Change: V218D

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

noncoding transcript
Transcript: ENSMUST00000184850

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 damaging
Transcript: ENSMUST00000194244
AA Change: V218D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141809
Gene: ENSMUSG00000073406
AA Change: V218D

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: V207D

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

SMART Domains

Protein: ENSMUSP00000141271
Gene: ENSMUSG00000073406
AA Change: V207D

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

probably damaging
Transcript: ENSMUST00000192532
AA Change: V300D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142113
Gene: ENSMUSG00000073406
AA Change: V300D

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 damaging
Transcript: ENSMUST00000195838
AA Change: V299D

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

SMART Domains

Protein: ENSMUSP00000141253
Gene: ENSMUSG00000073406
AA Change: V299D

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

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

Coding Region Coverage

1x: 99.3%
3x: 98.2%
10x: 95.3%
20x: 89.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	T	C	5: 50,164,218 (GRCm39)	M254V	possibly damaging	Het
Arrdc3	A	G	13: 81,038,817 (GRCm39)	T40A	possibly damaging	Het
Cntnap1	C	A	11: 101,075,536 (GRCm39)	Q905K	probably damaging	Het
Dclk1	A	G	3: 55,288,244 (GRCm39)	I256V	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Erlec1	A	G	11: 30,898,298 (GRCm39)		probably null	Het
Gm10160	A	T	7: 81,505,497 (GRCm39)	Y16N	probably benign	Het
Gm10608	C	CNNNNNNNN	9: 118,989,780 (GRCm39)		probably null	Het
Kcna4	AGAGGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGGAGG	2: 107,125,660 (GRCm39)		probably benign	Het
Mycbp2	A	T	14: 103,357,999 (GRCm39)	D4488E	probably benign	Het
Ndufaf1	A	G	2: 119,486,156 (GRCm39)	S319P	probably damaging	Het
Or5h25	A	C	16: 58,930,523 (GRCm39)	V150G	possibly damaging	Het
Smad4	T	C	18: 73,782,982 (GRCm39)		probably null	Het
Spaca7	T	C	8: 12,623,139 (GRCm39)	S12P	probably damaging	Het
Stx11	A	G	10: 12,817,155 (GRCm39)	S190P	probably 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
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
R9193:H2-T13	UTSW	17	36,391,956 (GRCm39)	missense	possibly damaging	0.46
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'- AGTTCCCAGAACTGACAGAGGACC -3'
(R):5'- TCACCCTGACCTGGCAGTTGAATG -3'

Sequencing Primer
(F):5'- CTGACAGAGGACCCAGGTG -3'
(R):5'- ACATGCCATGTGTACCATGAG -3'

Posted On

2014-01-15