Mutagenetix > Incidental Mutation

Incidental Mutation 'R0233:H2-T5'

65975

Institutional Source

Beutler Lab

Gene Symbol

H2-T5

Ensembl Gene

Gene Name

histocompatibility 2, T region locus 5

Synonyms

Gm8909, H2-T26, H-2T5

MMRRC Submission

038474-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R0233 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

36475335-36479429 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36478361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 224 (Y224H)

Ref Sequence

ENSEMBL: ENSMUSP00000133663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040467] [ENSMUST00000097335] [ENSMUST00000173353]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040467
AA Change: Y196H

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000036092
Gene: ENSMUSG00000073402
AA Change: Y196H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	26	204	5.9e-96	PFAM
IGc1	223	294	8.23e-23	SMART
transmembrane domain	310	332	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000090537

SMART Domains

Protein: ENSMUSP00000088025
Gene: ENSMUSG00000038311

Domain	Start	End	E-Value	Type
SCOP:d2sqca2	105	173	2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097335
AA Change: Y224H

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000094947
Gene: ENSMUSG00000073402
AA Change: Y224H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	54	232	7.3e-96	PFAM
IGc1	251	322	8.23e-23	SMART
transmembrane domain	338	360	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173353
AA Change: Y224H

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133663
Gene: ENSMUSG00000073402
AA Change: Y224H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:MHC_I	54	232	3.9e-93	PFAM
IGc1	251	322	8.23e-23	SMART
transmembrane domain	338	360	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174693

Meta Mutation Damage Score

0.1180

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.8%
20x: 81.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,330 (GRCm39)	S212P	probably benign	Het
A730018C14Rik	A	C	12: 112,381,864 (GRCm39)		noncoding transcript	Het
Acsf3	A	G	8: 123,507,031 (GRCm39)	Y108C	probably damaging	Het
Adad1	T	A	3: 37,139,097 (GRCm39)	I389N	possibly damaging	Het
Ankrd27	T	C	7: 35,300,985 (GRCm39)	L95P	probably damaging	Het
Ano5	T	C	7: 51,185,218 (GRCm39)	F46S	possibly damaging	Het
Ap2a1	T	C	7: 44,565,397 (GRCm39)	N114S	probably damaging	Het
Arap1	C	T	7: 101,049,448 (GRCm39)	S970L	possibly damaging	Het
Atad3a	A	T	4: 155,830,524 (GRCm39)	S525T	probably damaging	Het
Bltp1	T	A	3: 37,002,712 (GRCm39)	C1552*	probably null	Het
Cacna2d2	A	T	9: 107,391,869 (GRCm39)	I463F	probably damaging	Het
Casp6	T	A	3: 129,699,624 (GRCm39)	N34K	probably damaging	Het
Ccdc175	A	T	12: 72,152,650 (GRCm39)	F752I	probably benign	Het
Cdhr4	A	G	9: 107,874,133 (GRCm39)	I76V	probably benign	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Cuzd1	C	A	7: 130,913,545 (GRCm39)	K357N	possibly damaging	Het
Dnase2b	T	A	3: 146,288,305 (GRCm39)	K263N	probably benign	Het
Dync1h1	T	A	12: 110,607,414 (GRCm39)	D2668E	probably benign	Het
Fam124b	T	C	1: 80,190,703 (GRCm39)	S227G	probably damaging	Het
Fgf21	T	A	7: 45,264,721 (GRCm39)	M4L	probably benign	Het
Flg2	T	A	3: 93,109,104 (GRCm39)	C377*	probably null	Het
Gli2	A	T	1: 118,763,655 (GRCm39)	S1499T	probably damaging	Het
Gm43638	T	C	5: 87,622,860 (GRCm39)	N36S	probably damaging	Het
Gpx5	T	A	13: 21,471,573 (GRCm39)	D210V	probably damaging	Het
Hoxb5	T	A	11: 96,195,853 (GRCm39)	S234T	probably benign	Het
Irf9	C	A	14: 55,843,551 (GRCm39)	N140K	probably benign	Het
Isg20	C	A	7: 78,566,334 (GRCm39)	D94E	probably damaging	Het
Isg20	C	T	7: 78,564,243 (GRCm39)	T50M	probably damaging	Het
Izumo1	T	C	7: 45,273,592 (GRCm39)	L115P	probably damaging	Het
Krt73	A	T	15: 101,710,451 (GRCm39)	N94K	probably benign	Het
Lgmn	G	T	12: 102,366,248 (GRCm39)	D247E	probably damaging	Het
Lilra6	C	T	7: 3,917,935 (GRCm39)	V70I	possibly damaging	Het
Lrig3	G	A	10: 125,849,395 (GRCm39)		probably null	Het
Lrrc4	T	C	6: 28,829,734 (GRCm39)	H627R	probably benign	Het
Nat9	C	A	11: 115,074,234 (GRCm39)		probably null	Het
Nutm2	A	G	13: 50,621,441 (GRCm39)	D2G	probably benign	Het
Or10j3b	A	T	1: 173,043,868 (GRCm39)	I217F	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or5w8	A	G	2: 87,688,096 (GRCm39)	I192M	probably benign	Het
Pdzd8	A	T	19: 59,288,811 (GRCm39)	M863K	probably damaging	Het
Phlda3	T	C	1: 135,694,559 (GRCm39)	S125P	probably damaging	Het
Pkd1l3	A	T	8: 110,377,412 (GRCm39)	R217*	probably null	Het
Plekhg5	T	C	4: 152,196,676 (GRCm39)	C695R	probably damaging	Het
Pramel24	A	T	4: 143,452,633 (GRCm39)	E21D	possibly damaging	Het
Pyroxd1	A	G	6: 142,300,356 (GRCm39)	E162G	possibly damaging	Het
R3hcc1l	G	A	19: 42,571,360 (GRCm39)		probably null	Het
Rgs12	T	A	5: 35,187,842 (GRCm39)	S500T	probably damaging	Het
Ripor3	T	C	2: 167,834,518 (GRCm39)	D299G	probably damaging	Het
Robo4	T	C	9: 37,313,977 (GRCm39)	L76P	probably damaging	Het
Sbno1	T	C	5: 124,514,289 (GRCm39)	Y1302C	probably damaging	Het
Sec63	A	G	10: 42,699,904 (GRCm39)	I655V	possibly damaging	Het
Serpina11	T	A	12: 103,946,729 (GRCm39)	M389L	probably benign	Het
Sfswap	C	A	5: 129,631,607 (GRCm39)	P745Q	possibly damaging	Het
Slitrk3	C	T	3: 72,955,910 (GRCm39)	S954N	probably benign	Het
Sorbs2	A	G	8: 46,222,866 (GRCm39)	T190A	probably damaging	Het
Sos2	A	T	12: 69,664,104 (GRCm39)	I460N	probably benign	Het
Spink7	T	A	18: 62,727,423 (GRCm39)	I34L	probably benign	Het
Srbd1	A	G	17: 86,365,173 (GRCm39)	S628P	probably damaging	Het
Srm	G	A	4: 148,677,829 (GRCm39)	G156S	probably damaging	Het
Tmc4	T	A	7: 3,669,866 (GRCm39)	Y6F	probably benign	Het
Tmcc2	A	G	1: 132,288,389 (GRCm39)	F433L	probably damaging	Het
Tnxb	T	C	17: 34,918,007 (GRCm39)	F2307L	probably benign	Het
Tsr3	A	G	17: 25,461,484 (GRCm39)	E274G	probably benign	Het
Ttn	T	C	2: 76,725,488 (GRCm39)		probably benign	Het
Tub	T	C	7: 108,628,548 (GRCm39)	V352A	possibly damaging	Het
Tubb2a	A	G	13: 34,259,325 (GRCm39)	I155T	possibly damaging	Het
Usp13	T	A	3: 32,969,813 (GRCm39)		probably null	Het
Vmn1r52	T	G	6: 90,156,593 (GRCm39)	L120R	possibly damaging	Het
Vmn2r11	A	T	5: 109,201,968 (GRCm39)	S179T	probably benign	Het
Vwf	A	T	6: 125,663,473 (GRCm39)	R2805W	possibly damaging	Het
Zfp286	T	C	11: 62,671,219 (GRCm39)	T285A	possibly damaging	Het

Other mutations in H2-T5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:H2-T5	APN	17	36,476,246 (GRCm39)	critical splice donor site	probably null
IGL00534:H2-T5	APN	17	36,479,021 (GRCm39)	missense	probably damaging	1.00
IGL02312:H2-T5	APN	17	36,476,299 (GRCm39)	missense	probably benign	0.01
IGL03346:H2-T5	APN	17	36,479,001 (GRCm39)	missense	probably damaging	1.00
H8441:H2-T5	UTSW	17	36,478,874 (GRCm39)	missense	possibly damaging	0.84
R0005:H2-T5	UTSW	17	36,473,084 (GRCm39)	unclassified	probably benign
R0078:H2-T5	UTSW	17	36,476,353 (GRCm39)	missense	possibly damaging	0.95
R0211:H2-T5	UTSW	17	36,478,899 (GRCm39)	missense	probably damaging	1.00
R0211:H2-T5	UTSW	17	36,478,899 (GRCm39)	missense	probably damaging	1.00
R0233:H2-T5	UTSW	17	36,478,361 (GRCm39)	missense	probably benign	0.42
R0553:H2-T5	UTSW	17	36,478,949 (GRCm39)	missense	probably damaging	1.00
R0670:H2-T5	UTSW	17	36,478,990 (GRCm39)	missense	possibly damaging	0.74
R1718:H2-T5	UTSW	17	36,472,676 (GRCm39)	unclassified	probably benign
R1937:H2-T5	UTSW	17	36,478,899 (GRCm39)	missense	probably damaging	1.00
R2571:H2-T5	UTSW	17	36,478,553 (GRCm39)	missense	possibly damaging	0.66
R4393:H2-T5	UTSW	17	36,472,861 (GRCm39)	unclassified	probably benign
R4396:H2-T5	UTSW	17	36,472,861 (GRCm39)	unclassified	probably benign
R4409:H2-T5	UTSW	17	36,476,742 (GRCm39)	missense	possibly damaging	0.53
R4505:H2-T5	UTSW	17	36,472,372 (GRCm39)	unclassified	probably benign
R4506:H2-T5	UTSW	17	36,472,372 (GRCm39)	unclassified	probably benign
R4507:H2-T5	UTSW	17	36,472,372 (GRCm39)	unclassified	probably benign
R4579:H2-T5	UTSW	17	36,472,649 (GRCm39)	unclassified	probably benign
R4684:H2-T5	UTSW	17	36,476,750 (GRCm39)	missense	possibly damaging	0.90
R4740:H2-T5	UTSW	17	36,478,448 (GRCm39)	missense	probably damaging	1.00
R5087:H2-T5	UTSW	17	36,476,308 (GRCm39)	nonsense	probably null
R5103:H2-T5	UTSW	17	36,472,577 (GRCm39)	unclassified	probably benign
R5275:H2-T5	UTSW	17	36,472,567 (GRCm39)	splice site	probably null
R5425:H2-T5	UTSW	17	36,479,377 (GRCm39)	missense	probably damaging	1.00
R6155:H2-T5	UTSW	17	36,478,399 (GRCm39)	missense	possibly damaging	0.93
R6727:H2-T5	UTSW	17	36,476,622 (GRCm39)	missense	probably damaging	1.00
R6852:H2-T5	UTSW	17	36,478,965 (GRCm39)	missense	possibly damaging	0.52
R7985:H2-T5	UTSW	17	36,478,445 (GRCm39)	missense	probably damaging	1.00
R8316:H2-T5	UTSW	17	36,479,154 (GRCm39)	missense	unknown
R8872:H2-T5	UTSW	17	36,476,293 (GRCm39)	missense	probably benign	0.00
R9046:H2-T5	UTSW	17	36,476,035 (GRCm39)	critical splice donor site	probably null
R9296:H2-T5	UTSW	17	36,479,169 (GRCm39)	missense	unknown
Z1177:H2-T5	UTSW	17	36,476,604 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-08-19