Mutagenetix > Incidental Mutation

Incidental Mutation 'R1479:H2-T3'

164242

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

039532-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1479 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

36185572-36190287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36189428 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 125 (Y125C)

Ref Sequence

ENSEMBL: ENSMUSP00000134469 (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

SMART Domains

Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128

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 damaging
Transcript: ENSMUST00000102675
AA Change: Y125C

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

SMART Domains

Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: Y125C

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 damaging
Transcript: ENSMUST00000172663
AA Change: Y123C

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

SMART Domains

Protein: ENSMUSP00000134547
Gene: ENSMUSG00000054128
AA Change: Y123C

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 damaging
Transcript: ENSMUST00000173133
AA Change: Y125C

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

SMART Domains

Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: Y125C

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

silent
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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (81/84)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	A	12: 55,379,387	D138E	probably damaging	Het
1700022I11Rik	A	C	4: 42,972,543	K625N	possibly damaging	Het
2310030G06Rik	T	A	9: 50,741,301	T58S	possibly damaging	Het
4930432K21Rik	C	A	8: 84,162,397	T123K	possibly damaging	Het
Alox12e	A	G	11: 70,320,782	V252A	probably benign	Het
Anks6	T	C	4: 47,044,874	D344G	probably damaging	Het
Atg14	A	T	14: 47,547,239		probably null	Het
BC052040	T	A	2: 115,639,013	N74K	probably benign	Het
Bcr	G	T	10: 75,061,125	E34*	probably null	Het
Birc6	C	T	17: 74,634,853	T2728M	probably damaging	Het
Bmp2k	T	A	5: 97,053,200	N326K	probably benign	Het
Ccdc188	A	C	16: 18,219,290	T242P	possibly damaging	Het
Chsy3	A	T	18: 59,408,913	E374D	probably benign	Het
Clca4b	A	T	3: 144,915,468	V615E	probably damaging	Het
Clcnka	C	A	4: 141,389,447	A498S	possibly damaging	Het
Csmd3	A	G	15: 47,857,886	C1450R	probably damaging	Het
Cul7	C	A	17: 46,651,747	D101E	probably damaging	Het
Cyp27b1	G	A	10: 127,051,711		probably null	Het
Cyp2d22	A	G	15: 82,371,936	S404P	probably damaging	Het
Dclk3	G	A	9: 111,468,546	S386N	probably benign	Het
Dnah10	G	A	5: 124,777,889	D1953N	possibly damaging	Het
Dst	T	A	1: 34,264,515		probably null	Het
Egfem1	A	G	3: 29,657,165	N241D	probably damaging	Het
Entpd7	T	C	19: 43,721,840	F312S	probably damaging	Het
Esp34	T	A	17: 38,554,328		probably benign	Het
Fam126b	T	A	1: 58,552,268	R91*	probably null	Het
Foxd2	T	A	4: 114,907,918	T302S	unknown	Het
Fzd6	A	T	15: 39,030,999	N187Y	probably damaging	Het
Gbp9	C	T	5: 105,094,064		probably benign	Het
Gm11492	G	T	11: 87,567,418	R206L	probably damaging	Het
Gna14	T	C	19: 16,533,769	S61P	possibly damaging	Het
Grap	A	T	11: 61,660,298	Y52F	probably benign	Het
Hax1	C	A	3: 89,995,857	E212D	probably damaging	Het
Hecw1	A	C	13: 14,316,492	S638R	probably benign	Het
Hira	A	T	16: 18,896,469	K39M	probably damaging	Het
Hoxa2	T	A	6: 52,163,340	D222V	probably damaging	Het
Jph2	C	T	2: 163,339,271	V658M	possibly damaging	Het
Kansl1	A	T	11: 104,342,416	S762T	probably damaging	Het
Kat6b	T	A	14: 21,618,956	C267S	probably benign	Het
Klk6	A	G	7: 43,831,634	N250S	probably benign	Het
Lbp	T	C	2: 158,319,714	L232S	probably damaging	Het
Lcn9	A	T	2: 25,823,703		probably benign	Het
Lcp2	A	G	11: 34,075,068	H213R	probably benign	Het
Lrrc9	A	T	12: 72,460,825	K367*	probably null	Het
Lyst	A	G	13: 13,634,482	I246V	probably benign	Het
Megf6	G	T	4: 154,177,121	V68L	probably benign	Het
Mst1r	T	C	9: 107,913,345		probably benign	Het
Myo18a	A	G	11: 77,842,194	E909G	probably benign	Het
Nipbl	A	T	15: 8,350,289	D1006E	probably benign	Het
Olfr1164	A	G	2: 88,093,286	F217L	probably benign	Het
Olfr729	C	A	14: 50,148,788	V29F	probably benign	Het
Olfr933	A	T	9: 38,975,762	I29F	probably benign	Het
Otog	A	G	7: 46,295,978	I2220V	possibly damaging	Het
Pcx	T	A	19: 4,602,024	I99N	probably damaging	Het
Pi4ka	C	T	16: 17,373,400	G211D	probably benign	Het
Pp2d1	T	C	17: 53,507,855	S614G	probably benign	Het
Prdx6	G	A	1: 161,244,263	A111V	probably damaging	Het
Prss51	G	A	14: 64,096,170		probably null	Het
Psmd6	C	T	14: 14,116,819		probably benign	Het
Pten	T	A	19: 32,819,850	L345Q	probably damaging	Het
Qrich2	T	G	11: 116,441,485	H2295P	probably benign	Het
Rgs11	T	C	17: 26,208,283		probably null	Het
Rgs6	A	G	12: 83,116,244	E408G	probably damaging	Het
Slc38a7	T	C	8: 95,848,494	T53A	probably benign	Het
Sptbn1	A	G	11: 30,113,909	C1957R	probably damaging	Het
Sumf1	T	C	6: 108,176,058	Y123C	probably damaging	Het
Tnrc6b	T	A	15: 80,887,032		probably null	Het
Ttc21a	C	A	9: 119,956,947	D670E	probably benign	Het
Ttn	A	G	2: 76,744,511	V25346A	probably damaging	Het
Ubr4	A	G	4: 139,425,840	T2070A	possibly damaging	Het
Vmn2r57	C	A	7: 41,427,830	W304L	possibly damaging	Het
Vps13a	T	C	19: 16,750,114		probably benign	Het
Wisp3	G	A	10: 39,153,243	R230W	probably damaging	Het
Zfp647	A	G	15: 76,911,203	V419A	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
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
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'- AGCTCTGTATAACCAGCCTGCTCC -3'
(R):5'- TGCGACATATAAGCTAAGTGCGCC -3'

Sequencing Primer
(F):5'- CAGCCTGCTCCCACTTG -3'
(R):5'- TGCAGACTATGCTGGACTACTAC -3'

Posted On

2014-03-28