Mutagenetix > Incidental Mutation

Incidental Mutation 'R9697:H2-T3'

729395

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 #

R9697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36185572-36190287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36189852 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 33 (Y33F)

Ref Sequence

ENSEMBL: ENSMUSP00000099736 (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: Y33F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025312
Gene: ENSMUSG00000054128
AA Change: Y33F

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: Y33F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099736
Gene: ENSMUSG00000054128
AA Change: Y33F

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: Y31F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134547
Gene: ENSMUSG00000054128
AA Change: Y31F

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: Y33F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134469
Gene: ENSMUSG00000054128
AA Change: Y33F

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 damaging
Transcript: ENSMUST00000173629
AA Change: Y31F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134607
Gene: ENSMUSG00000054128
AA Change: Y31F

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 14,943,507 (GRCm38)		probably benign	Het
9330182O14Rik	C	T	15: 40,142,104 (GRCm38)		probably benign	Het
Adamts19	C	A	18: 58,968,762 (GRCm38)	P635T	probably damaging	Het
Adgrf1	T	C	17: 43,314,471 (GRCm38)	W857R	possibly damaging	Het
Ak9	T	G	10: 41,422,972 (GRCm38)	Y1556*	probably null	Het
Ang2	T	C	14: 51,195,869 (GRCm38)	I19V	probably benign	Het
Ano3	T	A	2: 110,665,908 (GRCm38)	T834S	probably damaging	Het
As3mt	A	T	19: 46,719,981 (GRCm38)	I236F	probably benign	Het
Asns	A	T	6: 7,689,268 (GRCm38)	I78N	probably damaging	Het
Bet1	G	A	6: 4,082,471 (GRCm38)	T44M	probably damaging	Het
Cabyr	T	C	18: 12,751,350 (GRCm38)	V298A	possibly damaging	Het
Cacna1c	A	G	6: 118,612,637 (GRCm38)	V1601A		Het
Ccni	A	T	5: 93,202,342 (GRCm38)	M26K	probably damaging	Het
Cdhr2	T	C	13: 54,719,866 (GRCm38)	I503T	probably damaging	Het
Cfap54	T	C	10: 92,956,989 (GRCm38)	K1754R	unknown	Het
Cfap69	A	G	5: 5,626,041 (GRCm38)	V218A	possibly damaging	Het
Clcn3	A	G	8: 60,919,484 (GRCm38)	L741P	probably damaging	Het
Cntnap1	T	C	11: 101,178,002 (GRCm38)	F124L	possibly damaging	Het
Col20a1	G	A	2: 180,999,784 (GRCm38)	G673D	probably benign	Het
Col4a2	A	G	8: 11,437,628 (GRCm38)	I977V	probably benign	Het
Cyp3a59	A	T	5: 146,094,380 (GRCm38)	I118F	probably damaging	Het
Dgcr8	A	T	16: 18,280,419 (GRCm38)	D369E	probably benign	Het
Dhtkd1	T	C	2: 5,914,840 (GRCm38)	T577A	probably benign	Het
Dock2	A	T	11: 34,254,417 (GRCm38)	M1375K	probably benign	Het
Fa2h	G	A	8: 111,348,027 (GRCm38)	H315Y	probably damaging	Het
Foxd2	G	A	4: 114,908,487 (GRCm38)	P112L	unknown	Het
Gin1	A	G	1: 97,785,172 (GRCm38)	I317V	probably benign	Het
Gpr180	G	A	14: 118,153,890 (GRCm38)	G235R	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331 (GRCm38)		probably benign	Het
Il12rb1	G	A	8: 70,811,230 (GRCm38)	W145*	probably null	Het
Il6ra	A	G	3: 89,877,912 (GRCm38)	V330A	probably benign	Het
Impdh2	T	C	9: 108,561,648 (GRCm38)	S67P	possibly damaging	Het
Ltbp3	T	A	19: 5,742,493 (GRCm38)	S85T	probably benign	Het
Magi3	A	G	3: 104,049,142 (GRCm38)		probably null	Het
Mettl4	T	A	17: 94,727,378 (GRCm38)	I430F	probably damaging	Het
Mmd	T	A	11: 90,276,753 (GRCm38)	F203I	probably damaging	Het
Nlgn1	T	C	3: 25,439,871 (GRCm38)	T305A	possibly damaging	Het
Ntn1	A	G	11: 68,277,530 (GRCm38)	V367A	probably damaging	Het
Olfr1369-ps1	A	T	13: 21,115,722 (GRCm38)	H10L	probably benign	Het
Olfr1461	G	A	19: 13,165,524 (GRCm38)	C170Y	possibly damaging	Het
Pcdh12	T	C	18: 38,281,969 (GRCm38)	H701R	possibly damaging	Het
Pcgf3	G	A	5: 108,473,907 (GRCm38)		probably null	Het
Pik3c2g	G	A	6: 139,967,791 (GRCm38)	V972M	unknown	Het
Pink1	A	G	4: 138,314,012 (GRCm38)	C563R	possibly damaging	Het
Prol1	A	T	5: 88,318,567 (GRCm38)	N3I	probably benign	Het
Ptpro	T	G	6: 137,386,290 (GRCm38)	I474S	probably damaging	Het
Rabgef1	A	G	5: 130,212,940 (GRCm38)	E395G	probably benign	Het
Rpgrip1l	G	T	8: 91,260,763 (GRCm38)	H889N	possibly damaging	Het
Sapcd2	T	A	2: 25,372,913 (GRCm38)	C161*	probably null	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,752,966 (GRCm38)		probably benign	Het
Spen	A	G	4: 141,468,964 (GRCm38)	L3625P	probably damaging	Het
Stil	T	C	4: 115,021,504 (GRCm38)	I379T	probably benign	Het
Stim1	A	G	7: 102,428,807 (GRCm38)	D172G		Het
Timm50	A	G	7: 28,310,925 (GRCm38)	L68P	probably damaging	Het
Tlr9	C	T	9: 106,223,524 (GRCm38)	R5*	probably null	Het
Top1mt	A	T	15: 75,676,025 (GRCm38)	Y71N	probably damaging	Het
Trpv4	A	G	5: 114,633,224 (GRCm38)	Y415H	possibly damaging	Het
Try10	C	T	6: 41,354,107 (GRCm38)		probably benign	Het
Uhrf2	A	G	19: 30,086,380 (GRCm38)	E581G	probably damaging	Het
Usp17lb	G	A	7: 104,841,288 (GRCm38)	T144I	possibly damaging	Het
Vmn1r64	T	C	7: 5,883,860 (GRCm38)	N228S	probably benign	Het
Vwa1	G	A	4: 155,772,879 (GRCm38)	P154L	probably damaging	Het

Other mutations in H2-T3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:H2-T3	APN	17	36,187,041 (GRCm38)	missense	probably benign
IGL01922:H2-T3	APN	17	36,187,100 (GRCm38)	missense	possibly damaging	0.53
IGL02389:H2-T3	APN	17	36,186,608 (GRCm38)	missense	probably benign	0.01
IGL02423:H2-T3	APN	17	36,187,356 (GRCm38)	missense	probably damaging	0.98
IGL02963:H2-T3	APN	17	36,189,634 (GRCm38)	missense	probably damaging	0.98
IGL03298:H2-T3	APN	17	36,189,428 (GRCm38)	missense	probably damaging	1.00
hyperbole	UTSW	17	36,187,345 (GRCm38)	missense	probably damaging	1.00
simile	UTSW	17	36,187,070 (GRCm38)	missense	probably damaging	0.99
R1479:H2-T3	UTSW	17	36,189,428 (GRCm38)	missense	probably damaging	1.00
R2907:H2-T3	UTSW	17	36,187,455 (GRCm38)	missense	possibly damaging	0.90
R3623:H2-T3	UTSW	17	36,190,065 (GRCm38)	missense	possibly damaging	0.91
R3624:H2-T3	UTSW	17	36,190,065 (GRCm38)	missense	possibly damaging	0.91
R3779:H2-T3	UTSW	17	36,189,682 (GRCm38)	missense	probably damaging	0.99
R4271:H2-T3	UTSW	17	36,189,618 (GRCm38)	missense	probably damaging	1.00
R4586:H2-T3	UTSW	17	36,189,344 (GRCm38)	splice site	probably null
R5351:H2-T3	UTSW	17	36,190,073 (GRCm38)	missense	probably benign	0.06
R5387:H2-T3	UTSW	17	36,186,702 (GRCm38)	missense	probably benign	0.00
R5474:H2-T3	UTSW	17	36,190,107 (GRCm38)	missense	probably damaging	0.99
R5711:H2-T3	UTSW	17	36,187,409 (GRCm38)	missense	probably damaging	1.00
R6458:H2-T3	UTSW	17	36,187,019 (GRCm38)	missense	possibly damaging	0.53
R6849:H2-T3	UTSW	17	36,189,805 (GRCm38)	missense	probably benign	0.32
R6956:H2-T3	UTSW	17	36,189,371 (GRCm38)	missense	probably damaging	1.00
R6993:H2-T3	UTSW	17	36,187,070 (GRCm38)	missense	probably damaging	0.99
R7336:H2-T3	UTSW	17	36,187,345 (GRCm38)	missense	probably damaging	1.00
R7414:H2-T3	UTSW	17	36,187,383 (GRCm38)	missense	not run
R8143:H2-T3	UTSW	17	36,187,492 (GRCm38)	missense	probably benign	0.35
R8901:H2-T3	UTSW	17	36,187,360 (GRCm38)	missense	probably damaging	0.99
RF009:H2-T3	UTSW	17	36,189,402 (GRCm38)	intron	probably benign
Z1176:H2-T3	UTSW	17	36,186,582 (GRCm38)	missense	possibly damaging	0.86
Z1176:H2-T3	UTSW	17	36,186,580 (GRCm38)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CATAGTCTGCAGATTCTCGCG -3'
(R):5'- AAACAGCCTTTTAGGGGAGG -3'

Sequencing Primer
(F):5'- TTCTCGCGGAAAAACTGTGC -3'
(R):5'- CCTTTTAGGGGAGGGGCGG -3'

Posted On

2022-10-06