Mutagenetix > Incidental Mutation

Incidental Mutation 'R8316:H2-T5'

641723

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

067854-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36475335-36479429 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36479154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 32 (S32P)

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

SMART Domains

Protein: ENSMUSP00000036092
Gene: ENSMUSG00000073402

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

unknown
Transcript: ENSMUST00000097335
AA Change: S32P

SMART Domains

Protein: ENSMUSP00000094947
Gene: ENSMUSG00000073402
AA Change: S32P

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

unknown
Transcript: ENSMUST00000173353
AA Change: S32P

SMART Domains

Protein: ENSMUSP00000133663
Gene: ENSMUSG00000073402
AA Change: S32P

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	C	10: 78,903,573 (GRCm39)	C248G	probably damaging	Het
4933427D14Rik	A	T	11: 72,059,612 (GRCm39)	V693E	possibly damaging	Het
Abcc10	G	T	17: 46,638,735 (GRCm39)	L42I	probably damaging	Het
Alb	A	G	5: 90,616,449 (GRCm39)	E318G	probably benign	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Aox4	T	A	1: 58,293,470 (GRCm39)	C941S	possibly damaging	Het
Aqp9	A	G	9: 71,045,495 (GRCm39)	V38A	probably benign	Het
AW209491	A	G	13: 14,812,349 (GRCm39)	T401A	probably damaging	Het
Ccdc57	C	T	11: 120,776,742 (GRCm39)	A553T	probably damaging	Het
Celf2	C	T	2: 6,551,914 (GRCm39)	D522N	probably benign	Het
Cfap210	A	G	2: 69,612,287 (GRCm39)		probably null	Het
Cmpk2	A	G	12: 26,524,136 (GRCm39)	N311S	probably damaging	Het
Dcn	T	C	10: 97,330,939 (GRCm39)	I91T	probably damaging	Het
Defa30	G	A	8: 21,624,709 (GRCm39)	V11I	probably benign	Het
Dnmt3a	T	A	12: 3,946,965 (GRCm39)	V397E	probably benign	Het
Ehhadh	G	A	16: 21,585,053 (GRCm39)	A276V	probably benign	Het
Fibcd1	T	C	2: 31,723,791 (GRCm39)		probably benign	Het
Gpr156	A	G	16: 37,818,336 (GRCm39)	D344G	probably null	Het
Invs	G	T	4: 48,426,199 (GRCm39)	R995S	possibly damaging	Het
Itpr3	T	C	17: 27,325,199 (GRCm39)	M1264T	possibly damaging	Het
Lzic	C	T	4: 149,572,527 (GRCm39)	A39V	probably benign	Het
Marchf6	A	G	15: 31,482,650 (GRCm39)	L516P	possibly damaging	Het
Mecom	C	T	3: 30,011,529 (GRCm39)	E591K	probably benign	Het
Mical3	T	C	6: 120,911,944 (GRCm39)	D1916G	probably damaging	Het
Mms22l	T	C	4: 24,578,855 (GRCm39)	I738T	probably damaging	Het
Mroh2b	G	A	15: 4,980,746 (GRCm39)	W1438*	probably null	Het
Mroh8	G	T	2: 157,071,879 (GRCm39)	T542K	possibly damaging	Het
Msl1	A	T	11: 98,691,074 (GRCm39)	K416I	probably damaging	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Or51a10	A	T	7: 103,698,829 (GRCm39)	V244E	probably damaging	Het
Or5p5	G	T	7: 107,414,030 (GRCm39)	V82F	possibly damaging	Het
Or5p58	A	G	7: 107,694,450 (GRCm39)	F109S	probably benign	Het
Or6c70	A	G	10: 129,709,891 (GRCm39)	V245A	probably damaging	Het
Pdzk1ip1	T	A	4: 114,946,323 (GRCm39)	V61D	probably benign	Het
Plcxd1	A	T	5: 110,250,180 (GRCm39)	M212L	probably benign	Het
Pld1	A	G	3: 28,078,361 (GRCm39)	T7A	probably benign	Het
Ppm1n	T	C	7: 19,012,302 (GRCm39)	D310G	probably damaging	Het
Prpf8	A	G	11: 75,390,641 (GRCm39)	N1264S	possibly damaging	Het
Pum2	T	A	12: 8,763,456 (GRCm39)	N204K	possibly damaging	Het
Recql5	G	A	11: 115,784,861 (GRCm39)	T822I	possibly damaging	Het
Rfc1	T	C	5: 65,436,077 (GRCm39)	T656A	probably benign	Het
Sacs	T	C	14: 61,427,068 (GRCm39)	Y159H	possibly damaging	Het
Septin14	A	G	5: 129,773,194 (GRCm39)	S148P	probably damaging	Het
Slco1c1	T	A	6: 141,492,640 (GRCm39)	M341K	probably benign	Het
Smok2a	T	C	17: 13,445,160 (GRCm39)	S246P	probably damaging	Het
Spata9	C	A	13: 76,125,890 (GRCm39)	S124R	possibly damaging	Het
Sri	A	G	5: 8,113,317 (GRCm39)	N103D	probably damaging	Het
Sspo	G	A	6: 48,459,622 (GRCm39)	C3327Y	probably damaging	Het
Trank1	A	G	9: 111,178,370 (GRCm39)	M353V	probably benign	Het
Trim80	A	T	11: 115,332,006 (GRCm39)	E66V	probably damaging	Het
Txndc16	A	G	14: 45,448,641 (GRCm39)	L73P	probably damaging	Het
Ugt2b34	T	A	5: 87,039,249 (GRCm39)	M471L	probably damaging	Het
Ush2a	G	T	1: 188,178,899 (GRCm39)	V1357L	probably benign	Het
Usp15	G	T	10: 122,959,848 (GRCm39)	P855T		Het
Uspl1	C	T	5: 149,135,491 (GRCm39)	T290I	possibly damaging	Het
Zbtb2	A	C	10: 4,319,084 (GRCm39)	M314R	probably benign	Het
Zcchc2	A	G	1: 105,959,844 (GRCm39)	Y1151C	probably damaging	Het
Zmat3	T	C	3: 32,395,670 (GRCm39)	Y279C	probably 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
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
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

PCR Primer
(F):5'- TTGGAAACCCTGCTCATGG -3'
(R):5'- CCTGATACTGACGGAGACAC -3'

Sequencing Primer
(F):5'- GCCCTTGGCGATCTGTGTC -3'
(R):5'- TGACGGAGACACGCGCG -3'

Posted On

2020-07-28