Mutagenetix > Incidental Mutation

Incidental Mutation 'R3891:H2-T24'

310415

Institutional Source

Beutler Lab

Gene Symbol

H2-T24

Ensembl Gene

ENSMUSG00000053835

Gene Name

histocompatibility 2, T region locus 24

Synonyms

H-2T24

MMRRC Submission

040803-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36316587-36331452 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36326330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 190 (I190F)

Ref Sequence

ENSEMBL: ENSMUSP00000109389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113760] [ENSMUST00000174063]

AlphaFold

F8VQG4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113760
AA Change: I190F

PolyPhen 2 Score 0.589 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109389
Gene: ENSMUSG00000053835
AA Change: I190F

Domain	Start	End	E-Value	Type
Pfam:MHC_I	18	204	3.2e-46	PFAM
IGc1	223	294	2.61e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173900

Predicted Effect

probably benign
Transcript: ENSMUST00000174063

SMART Domains

Protein: ENSMUSP00000133476
Gene: ENSMUSG00000053835

Domain	Start	End	E-Value	Type
Pfam:MHC_I	18	114	1.3e-23	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

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

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,655,847 (GRCm39)	T72A	probably damaging	Het
Ascc3	T	A	10: 50,718,289 (GRCm39)	I1994N	probably damaging	Het
C1qb	A	T	4: 136,607,727 (GRCm39)	V212E	probably damaging	Het
Cfap54	T	A	10: 92,874,708 (GRCm39)	I563F	possibly damaging	Het
Clip2	T	C	5: 134,551,847 (GRCm39)	K92E	probably damaging	Het
Clrn3	T	C	7: 135,120,194 (GRCm39)	T131A	possibly damaging	Het
Col9a1	T	C	1: 24,224,517 (GRCm39)		probably null	Het
Def8	T	C	8: 124,185,083 (GRCm39)		probably benign	Het
Diaph1	C	A	18: 38,033,691 (GRCm39)		probably benign	Het
Dmrta1	A	T	4: 89,579,831 (GRCm39)	I264F	possibly damaging	Het
Dscaml1	A	T	9: 45,628,782 (GRCm39)	D1112V	possibly damaging	Het
Ehbp1l1	A	G	19: 5,768,340 (GRCm39)	S988P	possibly damaging	Het
Gabrr2	A	G	4: 33,081,348 (GRCm39)	Y4C	probably damaging	Het
Gm10088	T	C	16: 18,847,001 (GRCm39)		noncoding transcript	Het
Gm5616	A	G	9: 48,361,809 (GRCm39)		noncoding transcript	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Il1rap	A	G	16: 26,495,606 (GRCm39)	Y71C	probably damaging	Het
Krt1	T	A	15: 101,758,847 (GRCm39)	S106C	unknown	Het
Lsamp	T	C	16: 39,805,054 (GRCm39)	V11A	probably benign	Het
Mob1b	T	A	5: 88,901,061 (GRCm39)	I156K	probably damaging	Het
Naip2	T	A	13: 100,297,606 (GRCm39)	E810V	probably damaging	Het
Nfe2l1	A	G	11: 96,710,823 (GRCm39)	S181P	possibly damaging	Het
Nos1ap	T	C	1: 170,177,025 (GRCm39)	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,259,223 (GRCm39)	A342S	possibly damaging	Het
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or2aj5	A	G	16: 19,425,205 (GRCm39)	I71T	probably damaging	Het
Or2t1	T	A	14: 14,328,114 (GRCm38)	M1K	probably null	Het
Pcdhb16	A	T	18: 37,612,422 (GRCm39)	I461F	probably benign	Het
Pcdhga10	A	C	18: 37,882,534 (GRCm39)	H765P	probably benign	Het
Pex2	C	T	3: 5,626,008 (GRCm39)	C267Y	probably damaging	Het
Pgghg	T	C	7: 140,525,616 (GRCm39)	I473T	probably damaging	Het
Polr2e	G	T	10: 79,873,213 (GRCm39)	P80T	probably benign	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rasef	A	G	4: 73,698,634 (GRCm39)	V9A	probably benign	Het
Rpl13	A	G	8: 123,831,907 (GRCm39)	E201G	probably damaging	Het
Skint2	A	G	4: 112,481,383 (GRCm39)	E82G	probably damaging	Het
Skor2	A	G	18: 76,946,350 (GRCm39)	D24G	unknown	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc29a3	T	A	10: 60,552,040 (GRCm39)	K335*	probably null	Het
Slc30a6	T	A	17: 74,726,541 (GRCm39)	D282E	probably benign	Het
Slc9a7	A	G	X: 20,052,352 (GRCm39)	F247S	probably damaging	Het
Slx4	A	T	16: 3,797,773 (GRCm39)	I1537N	probably damaging	Het
Specc1	C	T	11: 62,042,739 (GRCm39)	T872M	probably benign	Het
Stard10	G	A	7: 100,993,137 (GRCm39)	R231Q	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tesl1	A	G	X: 23,773,180 (GRCm39)	Y227C	probably damaging	Het
Vwa1	T	C	4: 155,857,651 (GRCm39)	E49G	probably damaging	Het
Zc3h12a	A	G	4: 125,020,678 (GRCm39)	F55S	probably damaging	Het
Zmym4	A	G	4: 126,798,269 (GRCm39)	I786T	probably benign	Het

Other mutations in H2-T24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01818:H2-T24	APN	17	36,328,128 (GRCm39)	splice site	probably benign
IGL02268:H2-T24	APN	17	36,328,264 (GRCm39)	missense	probably damaging	1.00
IGL02620:H2-T24	APN	17	36,328,183 (GRCm39)	missense	probably damaging	1.00
IGL03192:H2-T24	APN	17	36,326,368 (GRCm39)	nonsense	probably null
IGL03387:H2-T24	APN	17	36,317,671 (GRCm39)	missense	unknown
R0131:H2-T24	UTSW	17	36,325,878 (GRCm39)	missense	probably damaging	0.98
R0131:H2-T24	UTSW	17	36,325,878 (GRCm39)	missense	probably damaging	0.98
R0132:H2-T24	UTSW	17	36,325,878 (GRCm39)	missense	probably damaging	0.98
R0334:H2-T24	UTSW	17	36,325,772 (GRCm39)	missense	possibly damaging	0.75
R0531:H2-T24	UTSW	17	36,326,463 (GRCm39)	missense	probably benign
R0678:H2-T24	UTSW	17	36,328,333 (GRCm39)	missense	probably damaging	1.00
R1161:H2-T24	UTSW	17	36,325,888 (GRCm39)	nonsense	probably null
R1310:H2-T24	UTSW	17	36,325,888 (GRCm39)	nonsense	probably null
R1726:H2-T24	UTSW	17	36,326,513 (GRCm39)	missense	probably benign	0.01
R3948:H2-T24	UTSW	17	36,328,264 (GRCm39)	missense	probably damaging	1.00
R4106:H2-T24	UTSW	17	36,328,370 (GRCm39)	missense	possibly damaging	0.65
R4182:H2-T24	UTSW	17	36,326,376 (GRCm39)	missense	possibly damaging	0.81
R4229:H2-T24	UTSW	17	36,325,721 (GRCm39)	missense	probably benign	0.06
R5220:H2-T24	UTSW	17	36,325,562 (GRCm39)	missense	probably benign	0.12
R6257:H2-T24	UTSW	17	36,325,574 (GRCm39)	missense	probably benign	0.01
R7081:H2-T24	UTSW	17	36,328,344 (GRCm39)	missense	probably damaging	0.97
R7543:H2-T24	UTSW	17	36,325,743 (GRCm39)	missense	possibly damaging	0.70
R7739:H2-T24	UTSW	17	36,325,483 (GRCm39)	missense	probably benign	0.33
R8323:H2-T24	UTSW	17	36,328,431 (GRCm39)	critical splice acceptor site	probably null
R8358:H2-T24	UTSW	17	36,328,229 (GRCm39)	missense	probably benign	0.32
R9231:H2-T24	UTSW	17	36,331,363 (GRCm39)	missense	possibly damaging	0.72
R9275:H2-T24	UTSW	17	36,328,276 (GRCm39)	missense	probably damaging	0.96
R9594:H2-T24	UTSW	17	36,326,455 (GRCm39)	missense	probably damaging	0.99
R9706:H2-T24	UTSW	17	36,325,735 (GRCm39)	missense	probably benign	0.32
V8831:H2-T24	UTSW	17	36,328,216 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCACATCTGCTTGTGGGAAAC -3'
(R):5'- AGATGCGGTACAACAGGACC -3'

Sequencing Primer
(F):5'- GGGAAACTACCCCCAGCAC -3'
(R):5'- CCACAGGGCATTGGCAGTATG -3'

Posted On

2015-04-17