Mutagenetix > Incidental Mutation

Incidental Mutation 'RF009:H2-T3'

603095

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 #

RF009 (G1)

Quality Score

181.468

Status

Not validated

Chromosome

Chromosomal Location

36185572-36190287 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

TCCCGAAGAAC to TC at 36189402 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138563 (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 benign
Transcript: ENSMUST00000102675

SMART Domains

Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128

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

SMART Domains

Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128

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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

96% (53/55)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030445D17Rik	ACACACACCCGC	AC	4: 136,462,350		probably null	Het
AI182371	A	G	2: 35,089,197	V153A	possibly damaging	Het
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
Ankhd1	GCGGCG	GCGGCGTCGGCG	18: 36,560,922		probably benign	Het
Apoc2	C	T	7: 19,671,842	M71I	probably benign	Het
Arhgap17	CTGTTGTTG	CTGTTG	7: 123,286,862		probably benign	Het
Atrn	C	A	2: 130,906,922	T121K	probably benign	Het
Ccdc170	C	CCAG	10: 4,561,030		probably benign	Het
Cckbr	GCA	G	7: 105,434,686		probably null	Het
Cdk13	T	C	13: 17,803,744	D303G	unknown	Het
Cfap65	C	A	1: 74,905,647	R1477L	probably damaging	Het
Chd2	A	G	7: 73,519,662	S37P	possibly damaging	Het
Chga	AGC	AGCCGC	12: 102,561,420		probably benign	Het
Csf2rb2	T	C	15: 78,291,927	I259V	probably benign	Het
Csnk1d	A	T	11: 120,971,627	N275K	possibly damaging	Het
Dmxl1	A	C	18: 49,893,394	R1856S	probably damaging	Het
Dnah5	T	C	15: 28,204,019	V14A	probably benign	Het
Edc4	G	A	8: 105,889,180	S729N	probably benign	Het
Emilin3	T	C	2: 160,909,092	S246G	probably benign	Het
Epc2	T	G	2: 49,532,237		probably null	Het
Exoc6	T	A	19: 37,571,620	F101I	probably benign	Het
Fam171b	GCAGCA	GCAGCACCAGCA	2: 83,812,880		probably benign	Het
Fam81b	CTGTT	CTGTTGTT	13: 76,271,316		probably benign	Het
Flywch1	CTCACCCACTCCTGGTGT	CTCACCCACTCCTGGTGTGGGGAGGCTACGTAGTCACCCACTCCTGGTGT	17: 23,762,161		probably null	Het
Gab3	TTC	TTCCTC	X: 74,999,992		probably benign	Het
Gab3	CTT	CTTATT	X: 75,000,024		probably null	Het
Gabpa	C	A	16: 84,844,336	Q93K	probably benign	Het
Gabre	GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC	GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC	X: 72,270,712		probably benign	Het
Gabre	GGCTCA	GGCTCAAGCTCA	X: 72,270,713		probably benign	Het
Gm35339	GAGGAGGA	G	15: 76,363,167		probably null	Het
Gm36028	T	C	16: 37,854,479	D207G	probably benign	Het
Htr5a	A	G	5: 27,842,861	D138G	probably damaging	Het
Ifi207	G	A	1: 173,728,992	P727S	probably benign	Het
Ifna13	T	A	4: 88,643,908	S160C	probably damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Klri2	GGAG	GG	6: 129,733,774		probably null	Het
Lce1m	GTTGCTGCCACTG	GTTGCTGCCACTGTTGCTGCCACTG	3: 93,018,131		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lrch4	A	G	5: 137,637,543		probably null	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,981,676		probably null	Het
Map1a	GCTCCAGC	GCTCCAGCCCCAGCTCCAGCTCCAGCTCCACCTCCAGC	2: 121,306,301		probably benign	Het
Mettl25	T	C	10: 105,833,239		probably benign	Het
Mex3b	A	G	7: 82,867,760	D37G	probably damaging	Het
Mon1a	T	A	9: 107,901,234	V219E	probably damaging	Het
Myh3	GATTA	GATTAATTA	11: 67,086,355		probably null	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myh3	TTACG	TTACGTACG	11: 67,086,357		probably null	Het
Myo5b	T	A	18: 74,643,999	C377S	probably damaging	Het
Nefh	ACTTGGCCTCAGCTGGGG	ACTTGGCCTCAGCTGGGGCCTTGGCCTCAGCTGGGG	11: 4,940,997		probably benign	Het
Nos1ap	T	C	1: 170,318,581	D468G	probably damaging	Het
Ntn5	T	C	7: 45,693,260		probably null	Het
Olfr194	T	A	16: 59,119,911	H53L	probably damaging	Het
Olfr884	A	T	9: 38,047,747	H175L	probably damaging	Het
Oog2	T	C	4: 144,195,285	V255A	probably benign	Het
Pdgfd	C	A	9: 6,288,624	L93M	probably damaging	Het
Pgls	G	T	8: 71,592,463	V83L	probably damaging	Het
Pigw	C	A	11: 84,877,161	Q447H	probably damaging	Het
Pnmal1	TCATGATGCACCTGCTTCAACATC	TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC	7: 16,961,427		probably benign	Het
Poc1a	C	A	9: 106,295,218	L253M	possibly damaging	Het
Ppl	T	A	16: 5,097,931	E589D	probably benign	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Prx	T	C	7: 27,518,960	F1101S	probably damaging	Het
Rffl	A	G	11: 82,845,772	V26A	probably benign	Het
Scube3	T	A	17: 28,168,397	L923Q	probably damaging	Het
Setd2	C	T	9: 110,550,711	P1198L	probably damaging	Het
Shank2	C	A	7: 144,411,571	A972E	possibly damaging	Het
Slc10a6	A	G	5: 103,608,992	L302P	probably damaging	Het
Slc29a3	C	T	10: 60,750,561	G42D	probably benign	Het
Spg20	T	C	3: 55,127,606	V471A	probably benign	Het
Srebf1	T	C	11: 60,204,116	T486A	probably benign	Het
Sspo	T	A	6: 48,459,985	Y1284*	probably null	Het
Supt20	AGCAGC	AGCAGCCGCAGC	3: 54,727,662		probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743		probably benign	Het
Tff1	CTTCCTG	C	17: 31,164,927		probably benign	Het
Tmprss13	ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	ATCTCCAGCAAGGGCACCTCCTCAGGGCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC	9: 45,328,464		probably benign	Het
Tnfrsf25	T	C	4: 152,119,624	W341R	probably damaging	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,801,287		probably benign	Het
Trav8d-1	T	A	14: 52,778,750	L31Q	probably damaging	Het
Ttc23	A	T	7: 67,726,029	I452F	possibly damaging	Het
Uimc1	T	C	13: 55,050,785	E526G	possibly damaging	Het
Ulbp1	T	A	10: 7,447,405	K233N	unknown	Het
Usp17ld	A	T	7: 103,250,288	V479E	probably damaging	Het
Utrn	T	TGTTACCC	10: 12,633,945		probably null	Het
Vmn1r9	C	T	6: 57,071,480	S180L	probably benign	Het
Zfp598	CACC	CACCCCTACC	17: 24,680,787		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
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
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'- AGCAGGGAATCCTTGCATGG -3'
(R):5'- TACAACCTGAGTCAAAATGGTGAG -3'

Sequencing Primer
(F):5'- GAATCCTTGCATGGGCCCTC -3'
(R):5'- AATCTAAGAGTCTGTCCCCACTC -3'

Posted On

2019-12-04