Mutagenetix > Incidental Mutation

Incidental Mutation 'R8872:H2-T5'

676393

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

068743-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8872 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36475335-36479429 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36476293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 324 (I324F)

Ref Sequence

ENSEMBL: ENSMUSP00000036092 (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: I324F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000036092
Gene: ENSMUSG00000073402
AA Change: I324F

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

probably benign
Transcript: ENSMUST00000097335
AA Change: I352F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000094947
Gene: ENSMUSG00000073402
AA Change: I352F

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: I352F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000133663
Gene: ENSMUSG00000073402
AA Change: I352F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	G	17: 48,401,164 (GRCm39)	S150G	possibly damaging	Het
Alpk2	A	T	18: 65,413,977 (GRCm39)	S1579R	probably damaging	Het
Ank2	C	T	3: 126,791,525 (GRCm39)	E814K	possibly damaging	Het
Cep57	A	G	9: 13,737,980 (GRCm39)		probably benign	Het
Cntnap4	A	T	8: 113,585,759 (GRCm39)	R1127S	possibly damaging	Het
Comt	C	A	16: 18,245,239 (GRCm39)		probably benign	Het
Crlf3	T	C	11: 79,938,440 (GRCm39)	N399S		Het
Crls1	T	A	2: 132,691,819 (GRCm39)	S115T	probably benign	Het
Dixdc1	A	G	9: 50,614,453 (GRCm39)	S199P	possibly damaging	Het
Dsc3	T	C	18: 20,122,679 (GRCm39)	T82A	probably benign	Het
Efcab3	T	G	11: 104,760,880 (GRCm39)	L2411R	probably benign	Het
Exosc6	T	A	8: 111,783,784 (GRCm39)	V261E	probably damaging	Het
Fbxw17	C	T	13: 50,586,300 (GRCm39)	S361L	probably benign	Het
Gfap	T	A	11: 102,786,620 (GRCm39)	N157Y	possibly damaging	Het
Gigyf2	A	T	1: 87,307,725 (GRCm39)	D177V	unknown	Het
Gls2	A	T	10: 128,040,535 (GRCm39)	Q312L	probably benign	Het
Gpr155	C	T	2: 73,197,936 (GRCm39)	V395I	probably benign	Het
Greb1l	A	T	18: 10,529,684 (GRCm39)	M889L	probably benign	Het
Gucy1a1	T	A	3: 82,016,049 (GRCm39)	D313V	probably damaging	Het
Herpud1	C	T	8: 95,113,213 (GRCm39)		probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Il27	A	C	7: 126,190,194 (GRCm39)	L140R	probably damaging	Het
Jarid2	T	C	13: 45,055,984 (GRCm39)	S397P	possibly damaging	Het
Kdm5a	A	C	6: 120,365,101 (GRCm39)	D334A	probably damaging	Het
Lman2	T	C	13: 55,496,197 (GRCm39)	T283A	probably benign	Het
Lrfn2	C	T	17: 49,378,277 (GRCm39)	Q453*	probably null	Het
Lrrfip2	A	G	9: 111,034,824 (GRCm39)	E171G	possibly damaging	Het
Mboat1	T	A	13: 30,410,397 (GRCm39)	Y285N	probably damaging	Het
Med15	C	A	16: 17,470,605 (GRCm39)	S734I	probably damaging	Het
Mgat4c	T	A	10: 102,224,146 (GRCm39)	I120N	probably damaging	Het
Ms4a4d	T	C	19: 11,530,251 (GRCm39)	M104T	possibly damaging	Het
Mtf2	A	T	5: 108,247,051 (GRCm39)	M330L	probably benign	Het
Myoc	T	C	1: 162,475,013 (GRCm39)	V188A	probably benign	Het
Nos2	T	A	11: 78,839,949 (GRCm39)	I686N	probably damaging	Het
Npffr1	T	C	10: 61,461,794 (GRCm39)	V310A	probably benign	Het
Nrap	T	C	19: 56,308,627 (GRCm39)	*1729W	probably null	Het
Odam	A	G	5: 88,035,797 (GRCm39)		probably null	Het
Olfm4	G	T	14: 80,258,943 (GRCm39)	R397L	probably damaging	Het
Or1p1c	T	G	11: 74,160,120 (GRCm39)		probably benign	Het
Polr1b	T	C	2: 128,957,613 (GRCm39)	V556A	probably damaging	Het
Prl3d3	A	G	13: 27,346,324 (GRCm39)	D186G	possibly damaging	Het
Psmc5	C	A	11: 106,152,746 (GRCm39)	Y189*	probably null	Het
Rasgrp4	A	G	7: 28,838,521 (GRCm39)	Y123C	possibly damaging	Het
Rtn4	A	G	11: 29,658,633 (GRCm39)	E929G	probably benign	Het
Scrn2	A	T	11: 96,922,961 (GRCm39)	I135F	probably damaging	Het
Sec24d	T	A	3: 123,148,585 (GRCm39)		probably benign	Het
Secisbp2l	T	C	2: 125,594,892 (GRCm39)	T523A	probably benign	Het
Skic3	T	C	13: 76,333,326 (GRCm39)	L1525P	probably damaging	Het
Slain1	T	A	14: 103,925,841 (GRCm39)		probably null	Het
Slc22a29	A	G	19: 8,137,931 (GRCm39)	V548A	probably damaging	Het
Slc25a32	T	C	15: 38,969,339 (GRCm39)	I65V	probably benign	Het
Slc30a7	A	T	3: 115,740,317 (GRCm39)	M378K	possibly damaging	Het
Smarcd1	T	A	15: 99,608,975 (GRCm39)	I383N	probably damaging	Het
Spata31h1	A	T	10: 82,128,619 (GRCm39)	S1464T	probably benign	Het
Spdye4b	G	T	5: 143,187,815 (GRCm39)	K156N	probably damaging	Het
Sptb	A	G	12: 76,658,813 (GRCm39)	Y1241H	probably benign	Het
Ssu2	G	A	6: 112,357,956 (GRCm39)	T129I	probably damaging	Het
Supt16	A	G	14: 52,411,544 (GRCm39)	V613A	probably benign	Het
Sycp3	A	T	10: 88,302,388 (GRCm39)	E126V	probably damaging	Het
Tatdn2	A	T	6: 113,681,170 (GRCm39)	Y401F	probably damaging	Het
Tigd4	T	C	3: 84,501,547 (GRCm39)	S155P	probably benign	Het
Tnrc6b	A	G	15: 80,802,290 (GRCm39)	N1502S	probably benign	Het
Ttf2	A	G	3: 100,870,644 (GRCm39)	V143A	probably benign	Het
Ttn	T	A	2: 76,618,747 (GRCm39)	D16179V	probably damaging	Het
Vmn2r106	A	T	17: 20,488,401 (GRCm39)	M666K	probably benign	Het
Vwa5b1	A	T	4: 138,305,956 (GRCm39)	V914D	probably damaging	Het
Wnk2	T	C	13: 49,210,960 (GRCm39)	M1632V	probably benign	Het
Zbtb26	T	A	2: 37,326,913 (GRCm39)	N41I	probably damaging	Het
Zc3h12a	T	C	4: 125,020,412 (GRCm39)	N144D	probably damaging	Het
Zfp266	A	T	9: 20,411,275 (GRCm39)	C301S	probably benign	Het
Zfp580	A	G	7: 5,056,216 (GRCm39)	H192R	possibly damaging	Het
Zfp748	A	G	13: 67,689,914 (GRCm39)	C449R	probably damaging	Het
Zp2	T	C	7: 119,733,025 (GRCm39)	I612V	probably benign	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
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
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

PCR Primer
(F):5'- TCCACCTGTGAGAAGAAAAGCTG -3'
(R):5'- CTCAGTTCAGGGAAAGCTGG -3'

Sequencing Primer
(F):5'- GATCTTGACACTAGGAAGTTCCCAG -3'
(R):5'- TTCAGGGAAAGCTGGAGCCTTC -3'

Posted On

2021-07-15