Mutagenetix > Incidental Mutation

Incidental Mutation 'R8901:H2-T3'

679987

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 #

R8901 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36185572-36190287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36187360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 220 (D220E)

Ref Sequence

ENSEMBL: ENSMUSP00000025312 (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: D220E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
AA Change: D220E

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

possibly damaging
Transcript: ENSMUST00000102675
AA Change: D264E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: D264E

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

possibly damaging
Transcript: ENSMUST00000173133
AA Change: D264E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: D264E

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (53/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprm	T	C	11: 67,041,738	N115S	probably damaging	Het
Agbl5	T	C	5: 30,891,091	V169A	possibly damaging	Het
Ajuba	T	C	14: 54,570,373		probably benign	Het
Ankrd27	G	A	7: 35,632,818		probably benign	Het
Brat1	T	A	5: 140,712,853	M260K	probably benign	Het
Btbd6	G	T	12: 112,976,600		probably benign	Het
Cenpf	C	T	1: 189,662,051	G503S	probably benign	Het
Ces1e	C	T	8: 93,210,475	D323N	probably damaging	Het
Chrna5	T	C	9: 55,004,453	F75S	probably damaging	Het
Clmn	A	T	12: 104,780,952	S779T	probably benign	Het
Cntnap5c	T	A	17: 58,330,161	M1011K	probably benign	Het
Col11a2	A	T	17: 34,043,280	I164F	probably damaging	Het
Daw1	A	C	1: 83,205,922	K231T	possibly damaging	Het
Dnah5	T	G	15: 28,365,569	M2637R	possibly damaging	Het
Dsp	G	A	13: 38,181,179	V513M	probably damaging	Het
Eea1	T	G	10: 95,989,569	I42R	probably damaging	Het
Ehd4	A	T	2: 120,102,324	I207N	probably damaging	Het
F11	T	C	8: 45,248,814	T320A	probably benign	Het
Fhdc1	T	A	3: 84,445,567	M784L	probably benign	Het
Gm13083	A	T	4: 143,617,107	I326F	probably benign	Het
Gm21411	G	A	4: 146,897,714	Q10*	probably null	Het
Gm21671	CTTT	C	5: 25,950,859		probably benign	Het
Gnao1	T	C	8: 93,968,059	M70T	probably benign	Het
Gtf2i	A	G	5: 134,295,535	F25S	probably damaging	Het
Hnrnpul2	T	G	19: 8,824,445	L339R	probably damaging	Het
Impg2	A	T	16: 56,252,165	D320V	probably damaging	Het
Itga2b	A	T	11: 102,460,804	L565Q	probably damaging	Het
Jph3	A	T	8: 121,730,822	Q67L	probably damaging	Het
Khnyn	T	C	14: 55,886,586	F99S	probably damaging	Het
Lhcgr	A	T	17: 88,755,602	L214Q	probably damaging	Het
Lix1l	C	A	3: 96,601,429		probably benign	Het
Mettl13	C	T	1: 162,546,245	V95I	possibly damaging	Het
Nod2	C	T	8: 88,663,809	T226M	probably damaging	Het
Nwd2	T	C	5: 63,806,342	W1090R	probably damaging	Het
Olfr1386	A	T	11: 49,470,208	D19V	probably damaging	Het
Pla2r1	C	A	2: 60,502,056	V481F		Het
Polr1b	T	A	2: 129,125,675	V996E	probably damaging	Het
Ppfia3	T	A	7: 45,341,717	R1027W	probably damaging	Het
Rap1gds1	T	C	3: 138,957,544	D298G	probably damaging	Het
Rlf	T	C	4: 121,146,813	T1767A	possibly damaging	Het
Scn3a	C	T	2: 65,521,908	V353M	probably benign	Het
Setd1b	T	C	5: 123,161,051		probably benign	Het
Slc25a42	A	G	8: 70,194,149	V19A	probably benign	Het
Smarcal1	T	C	1: 72,585,780	S29P	possibly damaging	Het
Sntb2	T	C	8: 107,011,343	F508L	possibly damaging	Het
Syt15	G	T	14: 34,226,071	R291L	probably damaging	Het
Tas2r114	T	A	6: 131,689,951	N38I	probably damaging	Het
Tg	T	A	15: 66,685,335	N948K	probably damaging	Het
Tmem115	A	G	9: 107,534,794		probably benign	Het
Ttll8	C	T	15: 88,933,943	D175N	probably benign	Het
Txk	T	A	5: 72,700,707	Y398F	probably damaging	Het
Wdr36	C	A	18: 32,846,960	T246K	probably damaging	Het
Wdr43	A	T	17: 71,625,466	R113S	probably benign	Het
Ybx1	T	C	4: 119,281,588	Y239C	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
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
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'- TGAGGGTCTTCAGAAGGCTC -3'
(R):5'- CAGACACTTCTGGAGTCACC -3'

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

Posted On

2021-08-31