Mutagenetix > Incidental Mutation

Incidental Mutation 'R9375:H2-T13'

709588

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 #

R9375 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36391007-36395115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36391993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 27 (T27A)

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

probably benign
Transcript: ENSMUST00000173080
AA Change: T301A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000134155
Gene: ENSMUSG00000073406
AA Change: T301A

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: T27A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138812
Gene: ENSMUSG00000073406
AA Change: T27A

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: T41A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139165
Gene: ENSMUSG00000073406
AA Change: T41A

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

possibly damaging
Transcript: ENSMUST00000184502
AA Change: T209A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139275
Gene: ENSMUSG00000073406
AA Change: T209A

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: T291A

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: T209A

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141809
Gene: ENSMUSG00000073406
AA Change: T209A

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

possibly damaging
Transcript: ENSMUST00000195833
AA Change: T198A

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141271
Gene: ENSMUSG00000073406
AA Change: T198A

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 benign
Transcript: ENSMUST00000195838
AA Change: T290A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000141253
Gene: ENSMUSG00000073406
AA Change: T290A

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: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,332,567 (GRCm39)	D549G	probably benign	Het
Aamdc	A	G	7: 97,199,902 (GRCm39)	V120A	probably benign	Het
Acp2	A	T	2: 91,037,174 (GRCm39)	Q251L	probably benign	Het
AI597479	C	T	1: 43,150,505 (GRCm39)	A205V	possibly damaging	Het
Apob	A	G	12: 8,029,261 (GRCm39)	T44A	possibly damaging	Het
Arhgap18	G	A	10: 26,648,610 (GRCm39)	V11M	probably damaging	Het
Arhgef10l	T	G	4: 140,319,265 (GRCm39)	H156P	probably benign	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Ccn2	A	T	10: 24,473,501 (GRCm39)	M347L	possibly damaging	Het
Chd9	G	A	8: 91,725,335 (GRCm39)		probably null	Het
Clec4n	T	A	6: 123,207,662 (GRCm39)	F42L	probably benign	Het
Cngb1	T	C	8: 96,026,350 (GRCm39)	K144E	unknown	Het
Cyp4f17	A	G	17: 32,747,746 (GRCm39)	T485A	probably damaging	Het
Dcaf6	T	A	1: 165,185,052 (GRCm39)	Y480F	probably damaging	Het
Defa30	C	T	8: 21,624,686 (GRCm39)	T3I	probably damaging	Het
Dmxl1	T	A	18: 50,091,477 (GRCm39)	W2854R	probably damaging	Het
Dnah11	G	A	12: 117,884,703 (GRCm39)	T3783I	possibly damaging	Het
Dync1i1	T	A	6: 5,913,443 (GRCm39)	F225L	possibly damaging	Het
Elp6	T	A	9: 110,144,852 (GRCm39)	Y119*	probably null	Het
Enpep	A	T	3: 129,125,529 (GRCm39)	M201K	probably benign	Het
Fam161a	A	T	11: 22,970,661 (GRCm39)	R280W	probably damaging	Het
Fam98a	T	C	17: 75,848,330 (GRCm39)	N128S	possibly damaging	Het
Fpgt	A	T	3: 154,792,934 (GRCm39)	D364E	probably benign	Het
G3bp1	T	A	11: 55,390,439 (GRCm39)	M448K	probably damaging	Het
Gadd45b	T	C	10: 80,766,284 (GRCm39)	M16T	probably benign	Het
Gdi2	A	T	13: 3,614,869 (GRCm39)	I383F	probably benign	Het
Igtp	T	G	11: 58,097,026 (GRCm39)	L66V	probably damaging	Het
Kcne4	G	A	1: 78,795,623 (GRCm39)	M90I	probably benign	Het
Lmo7	T	A	14: 102,136,123 (GRCm39)	M732K	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mast4	T	G	13: 102,917,753 (GRCm39)	S552R	probably damaging	Het
Meak7	G	A	8: 120,498,096 (GRCm39)	A136V	probably benign	Het
Mff	A	T	1: 82,707,007 (GRCm39)	M11L	probably benign	Het
Mterf2	T	C	10: 84,956,327 (GRCm39)	E99G	probably damaging	Het
Myef2l	T	C	3: 10,153,791 (GRCm39)	S187P	probably benign	Het
Myom2	T	A	8: 15,149,210 (GRCm39)	N560K	probably damaging	Het
Nab2	A	G	10: 127,500,580 (GRCm39)	S171P	probably damaging	Het
Nhlrc3	T	C	3: 53,369,190 (GRCm39)	N83S	possibly damaging	Het
Nod2	A	T	8: 89,391,033 (GRCm39)	I447F	probably damaging	Het
Npat	T	A	9: 53,474,456 (GRCm39)	D749E	possibly damaging	Het
Nxph4	A	G	10: 127,362,631 (GRCm39)	S87P	probably benign	Het
Or2y1f	T	A	11: 49,184,902 (GRCm39)	Y251*	probably null	Het
Or51i2	G	T	7: 103,689,273 (GRCm39)	R90L	possibly damaging	Het
Or5d47	G	A	2: 87,804,526 (GRCm39)	T161M	possibly damaging	Het
Or6c6	T	A	10: 129,186,989 (GRCm39)	S186T	probably damaging	Het
Or9q2	T	A	19: 13,772,214 (GRCm39)	T254S	probably damaging	Het
Pcdha3	G	A	18: 37,079,353 (GRCm39)	V32I	probably benign	Het
Pcdhgc3	A	T	18: 37,939,691 (GRCm39)	T31S	probably benign	Het
Phldb3	A	G	7: 24,323,297 (GRCm39)	R391G	probably damaging	Het
Piezo1	A	G	8: 123,228,604 (GRCm39)	V257A		Het
Pip5k1b	T	A	19: 24,416,442 (GRCm39)	Q15L	probably benign	Het
Plxnc1	T	C	10: 94,649,093 (GRCm39)	N1229D	probably benign	Het
Ptpn12	A	G	5: 21,224,212 (GRCm39)	V127A	probably benign	Het
Ptprr	T	A	10: 116,109,724 (GRCm39)	V655D	probably benign	Het
Rbbp8	A	G	18: 11,838,888 (GRCm39)	T190A	probably benign	Het
Rnf17	T	A	14: 56,719,579 (GRCm39)	V943E	probably damaging	Het
Rnpc3	C	T	3: 113,404,913 (GRCm39)	G414D	probably damaging	Het
Robo4	T	A	9: 37,316,158 (GRCm39)	N387K	probably damaging	Het
Sall4	G	A	2: 168,597,781 (GRCm39)	T353M	probably damaging	Het
Serpinb13	T	C	1: 106,909,997 (GRCm39)	I38T	probably damaging	Het
Sgsm1	A	T	5: 113,422,139 (GRCm39)	I218N	unknown	Het
Sntg2	T	A	12: 30,293,343 (GRCm39)		probably null	Het
Taf1c	G	A	8: 120,325,393 (GRCm39)	S823F	probably damaging	Het
Timd6	T	A	11: 46,468,246 (GRCm39)	C107S	probably damaging	Het
Trhde	T	G	10: 114,244,598 (GRCm39)	I963L	probably damaging	Het
Trim43b	T	C	9: 88,967,619 (GRCm39)	Y339C	probably damaging	Het
Trp53	T	A	11: 69,480,537 (GRCm39)		probably null	Het
Tubg2	T	C	11: 101,051,621 (GRCm39)	V282A	probably benign	Het
Ube2g1	C	T	11: 72,553,943 (GRCm39)		probably benign	Het
Usp34	C	A	11: 23,437,203 (GRCm39)	A3341E		Het
Vmn2r12	T	A	5: 109,233,986 (GRCm39)	H742L	probably damaging	Het
Vmn2r24	T	C	6: 123,792,542 (GRCm39)	V623A	probably damaging	Het
Vmn2r5	A	T	3: 64,411,316 (GRCm39)	D417E	probably damaging	Het
Vmn2r-ps158	C	T	7: 42,673,499 (GRCm39)	P193S	possibly damaging	Het
Xirp2	A	T	2: 67,342,118 (GRCm39)	D1453V	probably damaging	Het
Zfp2	T	C	11: 50,791,042 (GRCm39)	S334G	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
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
R9193:H2-T13	UTSW	17	36,391,956 (GRCm39)	missense	possibly damaging	0.46
R9582:H2-T13	UTSW	17	36,392,375 (GRCm39)	missense	unknown

Predicted Primers

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

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

Posted On

2022-04-18