Mutagenetix > Incidental Mutation

Incidental Mutation 'R2907:H2-T3'

261713

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

040494-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36185572-36190287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36187455 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 233 (R233C)

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
AA Change: R189C

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
AA Change: R189C

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: R233C

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: R233C

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: R233C

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: R233C

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

probably benign
Transcript: ENSMUST00000174101

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

97% (37/38)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,567,297	E385G	probably damaging	Het
Adam32	A	T	8: 24,863,504	W690R	probably damaging	Het
Ap1b1	T	A	11: 5,031,641	N516K	probably damaging	Het
Arap3	G	A	18: 37,990,527	P452L	possibly damaging	Het
Armcx6	A	T	X: 134,749,450	C211S	probably damaging	Het
Asns	A	G	6: 7,675,506	S499P	probably benign	Het
Aspn	G	T	13: 49,551,898	V79F	probably damaging	Het
Astn2	A	G	4: 65,644,856	I844T	possibly damaging	Het
Asxl3	A	T	18: 22,517,273	H773L	possibly damaging	Het
Atp7b	G	A	8: 22,011,554	T781I	probably damaging	Het
Bcl6	G	A	16: 23,968,119	R641W	probably damaging	Het
Csmd3	T	A	15: 48,011,053	I612F	probably damaging	Het
Dnm1l	A	T	16: 16,314,311	S666T	probably damaging	Het
Gucy2c	A	T	6: 136,708,387	V852E	probably damaging	Het
Igfbp4	A	G	11: 99,041,551		probably benign	Het
Igkv16-104	T	C	6: 68,425,927	I68T	probably damaging	Het
Kansl1	T	A	11: 104,424,460	S251C	possibly damaging	Het
Kcnk1	G	T	8: 125,995,799	V114L	probably benign	Het
Klra3	G	T	6: 130,333,339	Q73K	probably damaging	Het
Mcpt1	T	C	14: 56,020,123	V242A	probably damaging	Het
Nek10	C	A	14: 14,980,613	Q990K	possibly damaging	Het
Nlrp4d	A	T	7: 10,378,427	V605E	probably benign	Het
Olfr1176	T	C	2: 88,340,483	I306T	probably benign	Het
Olfr1437	T	C	19: 12,322,668	D53G	probably damaging	Het
Olfr1490	C	T	19: 13,655,247	P268S	possibly damaging	Het
Osbpl1a	A	G	18: 12,871,072		probably benign	Het
Otud4	T	A	8: 79,673,068	S803T	probably benign	Het
Pax9	C	T	12: 56,709,744	T289I	probably benign	Het
Pcdha5	A	C	18: 36,960,815	I126L	possibly damaging	Het
Psmd4	G	T	3: 95,033,962	A55E	probably damaging	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rbm26	T	A	14: 105,142,834	T516S	probably benign	Het
Sdr42e1	G	A	8: 117,662,772	L377F	probably damaging	Het
Setdb1	T	C	3: 95,327,201		probably benign	Het
Uba3	T	C	6: 97,203,553	E21G	probably benign	Het
Uggt2	C	T	14: 119,019,507	S1105N	probably benign	Het
Zfp113	T	C	5: 138,144,957	N344D	probably benign	Het
Zfp738	T	C	13: 67,670,112	I587V	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
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'- TGAGGGTCTTCAGAAGGCTC -3'
(R):5'- GGAAATTTGACCCTTGTTCCAGTC -3'

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

Posted On

2015-01-23