Mutagenetix > Incidental Mutation

Incidental Mutation 'R8143:H2-T3'

632667

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8143 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36185572-36190287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36187492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 220 (R220S)

Ref Sequence

ENSEMBL: ENSMUSP00000099736 (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: R176S

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
AA Change: R176S

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

probably benign
Transcript: ENSMUST00000095300

Predicted Effect

probably benign
Transcript: ENSMUST00000097329

SMART Domains

Protein: ENSMUSP00000138177
Gene: ENSMUSG00000054128

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102675
AA Change: R220S

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: R220S

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

probably benign
Transcript: ENSMUST00000172663

SMART Domains

Protein: ENSMUSP00000134547
Gene: ENSMUSG00000054128

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173133
AA Change: R220S

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: R220S

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

probably benign
Transcript: ENSMUST00000173629

SMART Domains

Protein: ENSMUSP00000134607
Gene: ENSMUSG00000054128

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174101

Coding Region Coverage

1x: 99.7%
3x: 99.4%
10x: 97.3%
20x: 85.9%

Validation Efficiency

100% (65/65)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	C	A	2: 35,375,872	C262F	probably damaging	Het
4932438A13Rik	T	G	3: 36,946,508		probably null	Het
Acss1	T	C	2: 150,667,881		probably null	Het
Adamtsl1	T	C	4: 86,342,255	V909A	possibly damaging	Het
Adprh	G	A	16: 38,450,332	T37M	probably benign	Het
Ak9	T	A	10: 41,337,592	Y264*	probably null	Het
Aox3	G	T	1: 58,158,915	A629S	probably benign	Het
Apcs	G	A	1: 172,894,333	P149S	probably damaging	Het
Arnt	T	A	3: 95,469,983		probably null	Het
Asb13	G	A	13: 3,642,065	G15D	probably damaging	Het
Cacnb1	T	G	11: 98,003,320	T459P	probably benign	Het
Chrnb2	T	C	3: 89,747,323	T718A	unknown	Het
Cttn	T	A	7: 144,461,262	K70*	probably null	Het
Cyp2f2	G	A	7: 27,129,253	V183I	probably benign	Het
Cyp39a1	T	C	17: 43,725,626	V349A	probably benign	Het
Ebf2	C	A	14: 67,411,937	Y430*	probably null	Het
Eef2	T	C	10: 81,181,348	Y730H	probably damaging	Het
Eif2ak2	G	A	17: 78,858,532	T412I	probably benign	Het
Flnc	G	C	6: 29,441,485	R422P	probably benign	Het
Fryl	G	A	5: 73,050,339	A2496V	probably benign	Het
Galnt6	A	G	15: 100,716,207	L71P	probably damaging	Het
Gm7579	C	T	7: 142,212,426	Q190*	probably null	Het
Hmcn1	A	G	1: 150,859,206	V185A	probably benign	Het
Ifi208	T	A	1: 173,682,676	D132E	possibly damaging	Het
Itgb4	G	A	11: 115,993,429	V981I	probably damaging	Het
Itsn2	A	G	12: 4,633,003	T310A	unknown	Het
Kat5	A	G	19: 5,607,549		probably null	Het
Kif22	A	T	7: 127,033,225	D304E	probably damaging	Het
Mapre3	A	T	5: 30,863,375	N147Y	possibly damaging	Het
Morc2a	T	C	11: 3,678,537	V330A	probably benign	Het
Mylk	G	A	16: 34,914,155	V709M	possibly damaging	Het
Myo3a	T	G	2: 22,282,665		probably null	Het
N4bp2l2	A	T	5: 150,662,205	D103E	probably benign	Het
Nckap1	T	C	2: 80,506,186	K1062R	possibly damaging	Het
Nol9	T	C	4: 152,041,102	V170A	possibly damaging	Het
Numa1	A	G	7: 101,999,684	Q874R	possibly damaging	Het
Olfr854	A	G	9: 19,567,291	V31A	probably benign	Het
Olig3	T	G	10: 19,356,984	V119G	probably damaging	Het
Osbpl9	A	G	4: 109,065,709	S485P	probably benign	Het
Otogl	A	G	10: 107,806,666	F1301S	probably damaging	Het
Pank3	A	G	11: 35,776,209	Y51C	probably damaging	Het
Pex5l	T	C	3: 33,082,509		probably benign	Het
Pgm2	G	A	4: 99,967,218		probably null	Het
Psmd9	T	G	5: 123,228,416	I37S	probably damaging	Het
Qtrt2	A	G	16: 43,871,754	S135P	probably damaging	Het
Rexo5	T	A	7: 119,834,261		probably null	Het
Rsrp1	T	A	4: 134,927,008	D286E	probably benign	Het
Scara3	C	T	14: 65,931,820	C116Y	probably damaging	Het
Serpina3b	A	T	12: 104,130,534	T25S	probably benign	Het
Sh3pxd2a	G	A	19: 47,268,699	P555S	probably damaging	Het
Slc1a2	T	A	2: 102,737,885	L89Q	probably damaging	Het
Tgm6	T	A	2: 130,141,843	N307K	probably damaging	Het
Tmem86b	G	T	7: 4,628,485	D189E	probably damaging	Het
Trim65	G	A	11: 116,126,461	R392C	probably benign	Het
Trpc7	T	C	13: 56,782,549	T769A	probably benign	Het
Trrap	T	A	5: 144,835,897		probably null	Het
Ttn	T	C	2: 76,863,333	E397G	possibly damaging	Het
Vcl	A	T	14: 20,987,044	M237L	possibly damaging	Het
Vmn1r36	G	A	6: 66,716,052	Q280*	probably null	Het
Vmn2r23	A	T	6: 123,741,353	D555V	probably damaging	Het
Wnk4	A	G	11: 101,262,799	N229S	probably damaging	Het
Zfp784	A	C	7: 5,035,911	V216G	possibly 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
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
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'- ACATGACATGTGTATTTCTGCTCC -3'
(R):5'- TTTGCCTCCTGGGACACATAG -3'

Sequencing Primer
(F):5'- TGCTCCTTCCCAAGCGG -3'
(R):5'- GGCACAAGTTCTGGAATTTTCAGAG -3'

Posted On

2020-06-30