Mutagenetix > Incidental Mutation

Incidental Mutation 'R3624:H2-T3'

269353

Institutional Source

Beutler Lab

Gene Symbol

H2-T3

Ensembl Gene

ENSMUSG00000054128

Gene Name

histocompatibility 2, T region locus 3

Synonyms

TL, H2-Tw3, H-2T3

MMRRC Submission

040678-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3624 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36185572-36190287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36190065 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 20 (T20A)

Ref Sequence

ENSEMBL: ENSMUSP00000134607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025312] [ENSMUST00000095300] [ENSMUST00000097329] [ENSMUST00000102675] [ENSMUST00000172663] [ENSMUST00000173133] [ENSMUST00000173629] [ENSMUST00000174101]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025312
AA Change: T22A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
AA Change: T22A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:MHC_I	27	120	2.5e-40	PFAM
Pfam:MHC_I	114	161	3.7e-14	PFAM
IGc1	180	251	1.6e-20	SMART
transmembrane domain	271	290	N/A	INTRINSIC
low complexity region	293	301	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000095300
AA Change: T20A

Predicted Effect

unknown
Transcript: ENSMUST00000097329
AA Change: T20A

SMART Domains

Protein: ENSMUSP00000138177
Gene: ENSMUSG00000054128
AA Change: T20A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102675
AA Change: T22A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: T22A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:MHC_I	27	205	9.3e-85	PFAM
IGc1	224	295	1.6e-20	SMART
transmembrane domain	315	334	N/A	INTRINSIC
low complexity region	337	345	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172663
AA Change: T20A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134547
Gene: ENSMUSG00000054128
AA Change: T20A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:MHC_I	25	203	5.1e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172822

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173133
AA Change: T22A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: T22A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:MHC_I	27	205	2.6e-84	PFAM
IGc1	224	295	1.6e-20	SMART
transmembrane domain	315	334	N/A	INTRINSIC
low complexity region	337	345	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173577

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173629
AA Change: T20A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134607
Gene: ENSMUSG00000054128
AA Change: T20A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:MHC_I	25	119	1.4e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174101
AA Change: T20A

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

Meta Mutation Damage Score

0.4730

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: This locus contains the sole gene encoding the thymic leukemia antigen or TL antigen in "b haplotype" mice such as C57BL/6. Mice homozygous for a targeted knock-out are viable with normal reproduction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,130,348	T364A	probably benign	Het
Adcy2	T	C	13: 68,642,531	T905A	probably damaging	Het
Akap9	C	A	5: 3,976,235	Q1297K	possibly damaging	Het
Ankrd53	A	G	6: 83,763,262	E104G	possibly damaging	Het
Anks1	T	C	17: 27,986,288	F274L	probably damaging	Het
Btaf1	A	G	19: 36,981,086	T668A	probably benign	Het
Coch	A	G	12: 51,602,826	I307V	probably benign	Het
Colec11	T	C	12: 28,594,908	M196V	probably benign	Het
Cyp2c54	A	G	19: 40,070,244	I248T	probably benign	Het
D17H6S53E	A	G	17: 35,127,536	E141G	probably benign	Het
Dffb	T	C	4: 153,965,519	T296A	probably damaging	Het
Dock8	A	G	19: 25,079,877	Q216R	probably benign	Het
Emilin3	T	C	2: 160,908,257	D477G	possibly damaging	Het
Esp4	A	G	17: 40,602,593	K117R	unknown	Het
Fam186b	A	G	15: 99,280,515	L310S	probably benign	Het
Fam208b	T	C	13: 3,595,556	T98A	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334		probably null	Het
Htr1d	T	C	4: 136,443,504	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,738	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,724,960	Q16L	probably benign	Het
Ikbkap	C	T	4: 56,798,708	V85M	possibly damaging	Het
Irs2	C	T	8: 11,007,643	G263D	probably damaging	Het
Itih3	A	G	14: 30,914,743	Y38H	probably damaging	Het
Kif21a	A	G	15: 90,965,595	V35A	probably damaging	Het
Klhl14	A	T	18: 21,557,896	V499D	probably damaging	Het
Kmt2d	T	C	15: 98,842,902		probably benign	Het
Loxl4	A	G	19: 42,607,576	V146A	probably benign	Het
Met	A	T	6: 17,549,086	D979V	probably damaging	Het
Mga	A	G	2: 119,941,764	T1702A	probably damaging	Het
Midn	A	G	10: 80,150,310	D78G	probably benign	Het
Mlh3	C	T	12: 85,268,395	C339Y	probably damaging	Het
Mog	T	C	17: 37,012,446	H200R	possibly damaging	Het
Nadk2	T	A	15: 9,084,223	W139R	probably damaging	Het
Nsd3	A	G	8: 25,662,819	T392A	probably damaging	Het
Pbld2	T	C	10: 63,061,691	L57P	probably damaging	Het
Racgap1	T	A	15: 99,642,891	N26I	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Rspry1	A	G	8: 94,649,777	D309G	probably damaging	Het
Sgcz	T	C	8: 37,953,047	E17G	probably damaging	Het
Slc16a10	A	G	10: 40,141,894	V48A	probably benign	Het
Smad1	A	G	8: 79,339,698	V450A	probably benign	Het
Smad9	C	T	3: 54,789,284	R257W	probably damaging	Het
Snrpb	C	A	2: 130,175,379	R73L	probably null	Het
Spag11a	A	G	8: 19,159,401	D69G	probably benign	Het
Sptbn1	T	C	11: 30,140,593	H559R	probably damaging	Het
Strn3	T	C	12: 51,661,216	Y132C	possibly damaging	Het
Tgm6	T	A	2: 130,151,761	V640E	possibly damaging	Het
Trim54	G	A	5: 31,136,976	V319M	possibly damaging	Het
Trpm1	A	G	7: 64,244,853	Y951C	probably damaging	Het
Ube3a	T	A	7: 59,272,112	N77K	probably damaging	Het
Uhrf1	C	T	17: 56,317,023	T482I	probably damaging	Het
Veph1	C	T	3: 66,215,437	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,435,452	F132I	probably benign	Het
Vmn1r88	A	C	7: 13,177,863	M49L	probably benign	Het
Vmn2r24	A	G	6: 123,816,038	R775G	probably damaging	Het
Zfp60	T	A	7: 27,749,328	F474I	probably benign	Het
Zkscan8	C	T	13: 21,520,776	R259Q	probably damaging	Het

Other mutations in H2-T3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:H2-T3	APN	17	36187041	missense	probably benign
IGL01922:H2-T3	APN	17	36187100	missense	possibly damaging	0.53
IGL02389:H2-T3	APN	17	36186608	missense	probably benign	0.01
IGL02423:H2-T3	APN	17	36187356	missense	probably damaging	0.98
IGL02963:H2-T3	APN	17	36189634	missense	probably damaging	0.98
IGL03298:H2-T3	APN	17	36189428	missense	probably damaging	1.00
hyperbole	UTSW	17	36187345	missense	probably damaging	1.00
simile	UTSW	17	36187070	missense	probably damaging	0.99
R1479:H2-T3	UTSW	17	36189428	missense	probably damaging	1.00
R2907:H2-T3	UTSW	17	36187455	missense	possibly damaging	0.90
R3623:H2-T3	UTSW	17	36190065	missense	possibly damaging	0.91
R3779:H2-T3	UTSW	17	36189682	missense	probably damaging	0.99
R4271:H2-T3	UTSW	17	36189618	missense	probably damaging	1.00
R4586:H2-T3	UTSW	17	36189344	splice site	probably null
R5351:H2-T3	UTSW	17	36190073	missense	probably benign	0.06
R5387:H2-T3	UTSW	17	36186702	missense	probably benign	0.00
R5474:H2-T3	UTSW	17	36190107	missense	probably damaging	0.99
R5711:H2-T3	UTSW	17	36187409	missense	probably damaging	1.00
R6458:H2-T3	UTSW	17	36187019	missense	possibly damaging	0.53
R6849:H2-T3	UTSW	17	36189805	missense	probably benign	0.32
R6956:H2-T3	UTSW	17	36189371	missense	probably damaging	1.00
R6993:H2-T3	UTSW	17	36187070	missense	probably damaging	0.99
R7336:H2-T3	UTSW	17	36187345	missense	probably damaging	1.00
R7414:H2-T3	UTSW	17	36187383	missense	not run
R8143:H2-T3	UTSW	17	36187492	missense	probably benign	0.35
R8901:H2-T3	UTSW	17	36187360	missense	probably damaging	0.99
R9697:H2-T3	UTSW	17	36189852	missense	probably damaging	0.98
RF009:H2-T3	UTSW	17	36189402	intron	probably benign
Z1176:H2-T3	UTSW	17	36186580	missense	possibly damaging	0.86
Z1176:H2-T3	UTSW	17	36186582	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GAAGTACCTCAGCGAGTGTGAG -3'
(R):5'- GATTGTTTTCAAAGGCCTTGCAC -3'

Sequencing Primer
(F):5'- CAGCATGTGGTGAGACTGTGAC -3'
(R):5'- ACTCCTGTTGAGAGCAGGTAC -3'

Posted On

2015-02-19