Mutagenetix > Incidental Mutation

Incidental Mutation 'R5711:H2-T3'

452238

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

043185-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5711 (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 36187409 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 248 (E248G)

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 damaging
Transcript: ENSMUST00000025312
AA Change: E204G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
AA Change: E204G

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: E248G

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

SMART Domains

Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: E248G

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 damaging
Transcript: ENSMUST00000173133
AA Change: E248G

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

SMART Domains

Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: E248G

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

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

noncoding transcript
Transcript: ENSMUST00000173902

Predicted Effect

probably benign
Transcript: ENSMUST00000174101

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak6	A	T	13: 100,654,214	T18S	probably damaging	Het
Aqp7	G	A	4: 41,035,510	T115I	probably benign	Het
Arhgap19	A	G	19: 41,784,788	V275A	possibly damaging	Het
Cebpz	T	A	17: 78,934,611	Q538L	probably damaging	Het
Chgb	A	T	2: 132,792,698	I187F	probably benign	Het
Cldn1	C	A	16: 26,371,417	L70F	probably damaging	Het
Crybg2	A	T	4: 134,082,627	D1230V	probably damaging	Het
Csmd1	C	T	8: 15,953,703	C2617Y	probably damaging	Het
D7Ertd443e	T	A	7: 134,349,381	N188Y	probably benign	Het
Ddx51	A	G	5: 110,654,924	I214M	probably benign	Het
Dlg5	A	G	14: 24,150,648	V1328A	probably damaging	Het
Dnah2	C	T	11: 69,435,390	C3639Y	probably damaging	Het
Dync1i2	C	T	2: 71,250,982	T511I	probably benign	Het
Fam220a	A	T	5: 143,563,457	E208V	probably damaging	Het
Gm11492	T	C	11: 87,567,897	S366P	probably benign	Het
Gm4846	T	C	1: 166,484,025	S422G	probably benign	Het
Grin2c	C	T	11: 115,250,289	R1001Q	probably benign	Het
Idi2	T	C	13: 8,958,482	V92A	probably benign	Het
Iqcd	C	T	5: 120,602,506	Q301*	probably null	Het
Klhl26	T	C	8: 70,452,324	D278G	probably damaging	Het
Mok	G	T	12: 110,808,069	T228K	probably damaging	Het
Olfr381	A	G	11: 73,486,182	I214T	probably damaging	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pabpc1	T	C	15: 36,605,830	I101V	probably benign	Het
Ppargc1a	G	T	5: 51,474,220	Q356K	probably damaging	Het
Ptprt	T	A	2: 161,810,604	D608V	probably damaging	Het
Rxfp1	C	T	3: 79,678,747	C96Y	probably damaging	Het
Scn11a	A	C	9: 119,789,924	V784G	probably damaging	Het
Slc12a8	A	G	16: 33,590,309	Y226C	probably damaging	Het
Slc25a33	A	G	4: 149,762,457	V49A	possibly damaging	Het
Slc25a45	T	C	19: 5,884,423	S140P	probably benign	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Spty2d1	G	T	7: 46,998,097	N361K	possibly damaging	Het
Stk4	G	A	2: 164,099,754	A297T	probably benign	Het
Thsd7b	T	A	1: 129,760,402	N683K	probably damaging	Het
Tln2	T	C	9: 67,392,547	E141G	probably benign	Het
Tmem125	A	T	4: 118,542,019	C72S	probably damaging	Het
Ttn	G	T	2: 76,742,093	T26152K	probably damaging	Het
Uhrf1	G	A	17: 56,320,259	G643D	possibly damaging	Het
Vmn2r50	C	T	7: 10,040,372	M532I	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
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'- AGCTGAGGGTCTTCAGAAGG -3'
(R):5'- CAGACACTTCTGGAGTCACC -3'

Sequencing Primer
(F):5'- AGGGTCTTCAGAAGGCTCCAG -3'
(R):5'- GTCACCAGGAAAGATATTTGATGCCC -3'

Posted On

2017-01-03