Mutagenetix > Incidental Mutation

Incidental Mutation 'R3623:H2-T3'

268757

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3623 (G1)

Quality Score

225

Status

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (69/69)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,130,348	T364A	probably benign	Het
Adpgk	G	A	9: 59,313,753	V281I	probably benign	Het
Akap9	C	A	5: 3,976,235	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,281,940	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,763,262	E104G	possibly damaging	Het
Bscl2	T	A	19: 8,841,150	C40S	probably benign	Het
Btaf1	A	G	19: 36,981,086	T668A	probably benign	Het
Camk2g	G	A	14: 20,755,707		probably benign	Het
Cd109	A	T	9: 78,667,357	D541V	probably damaging	Het
Cep135	G	A	5: 76,624,739	G657D	probably benign	Het
Coch	A	G	12: 51,602,826	I307V	probably benign	Het
D17H6S53E	A	G	17: 35,127,536	E141G	probably benign	Het
Ddias	T	C	7: 92,859,592	T372A	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
Ep400	T	C	5: 110,719,236	Y1014C	unknown	Het
Ephx1	A	G	1: 180,989,933	I391T	probably benign	Het
Fam208b	T	C	13: 3,595,556	T98A	probably benign	Het
Fcgbp	A	G	7: 28,101,276	Y1249C	probably damaging	Het
Gm38100	T	C	1: 175,920,631	C88R	possibly damaging	Het
Gm5592	T	C	7: 41,157,628		probably benign	Het
Gm7964	A	G	7: 83,756,421	N149S	probably benign	Het
Greb1l	T	A	18: 10,542,380	I1325N	probably damaging	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
Irs2	C	T	8: 11,007,643	G263D	probably damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Kmt2a	A	G	9: 44,848,966	Y529H	probably damaging	Het
Mdfic	T	A	6: 15,770,320	N108K	probably damaging	Het
Met	A	T	6: 17,549,086	D979V	probably damaging	Het
Mettl21e	T	A	1: 44,206,697	I130F	probably damaging	Het
Mlh3	C	T	12: 85,268,395	C339Y	probably damaging	Het
Mog	T	C	17: 37,012,446	H200R	possibly damaging	Het
Msrb3	C	T	10: 120,784,198	R72H	probably damaging	Het
Mtmr11	A	G	3: 96,165,266	H324R	probably damaging	Het
Myh7	T	C	14: 54,973,381	E1693G	probably damaging	Het
Nadk2	T	A	15: 9,084,223	W139R	probably damaging	Het
Ndufa9	A	T	6: 126,844,399	M76K	possibly damaging	Het
Nr1i2	A	G	16: 38,265,907		probably benign	Het
Nsd3	A	G	8: 25,662,819	T392A	probably damaging	Het
Olfr305	A	G	7: 86,364,100	F79S	probably benign	Het
Olfr653	T	C	7: 104,579,942	S99P	probably damaging	Het
P2ry2	A	T	7: 100,998,499	S200T	probably benign	Het
Pcnt	T	A	10: 76,433,750	E228V	probably benign	Het
Phka2	T	A	X: 160,544,295	Y334*	probably null	Het
Pkhd1l1	A	T	15: 44,526,869	K1460N	probably damaging	Het
Rpl7a-ps3	G	A	15: 36,308,283		noncoding transcript	Het
Rspry1	A	G	8: 94,649,777	D309G	probably damaging	Het
Scap	A	G	9: 110,380,203	Y648C	probably damaging	Het
Sgcz	T	C	8: 37,953,047	E17G	probably damaging	Het
Slc17a5	A	T	9: 78,538,274	V433D	probably damaging	Het
Smad9	C	T	3: 54,789,284	R257W	probably damaging	Het
Srcap	T	C	7: 127,542,147	S1639P	probably damaging	Het
Strn3	T	C	12: 51,661,216	Y132C	possibly damaging	Het
Tas2r110	A	T	6: 132,868,470	M155L	probably benign	Het
Thbd	A	G	2: 148,406,973	V325A	probably damaging	Het
Trpd52l3	T	A	19: 30,003,933	C29*	probably null	Het
Trpm1	A	G	7: 64,244,853	Y951C	probably damaging	Het
Ube3a	T	A	7: 59,272,112	N77K	probably damaging	Het
Upp2	G	A	2: 58,790,116	R300Q	possibly damaging	Het
Usp35	T	C	7: 97,312,620	H533R	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
Vmn2r24	A	G	6: 123,816,038	R775G	probably damaging	Het
Vps13c	T	A	9: 67,975,907		probably null	Het
Vps37c	T	A	19: 10,706,205		probably null	Het
Zap70	C	T	1: 36,779,135	T301I	probably benign	Het
Zfp341	A	G	2: 154,624,881	K57E	probably damaging	Het
Zfp60	T	A	7: 27,749,328	F474I	probably benign	Het
Zfp786	T	C	6: 47,821,423	N194D	probably benign	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
R3624: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