Mutagenetix > Incidental Mutation

Incidental Mutation 'R6810:Skint6'

533747

Institutional Source

Beutler Lab

Gene Symbol

Skint6

Ensembl Gene

ENSMUSG00000087194

Gene Name

selection and upkeep of intraepithelial T cells 6

Synonyms

OTTMUSG00000008519

MMRRC Submission

044923-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R6810 (G1)

Quality Score

165.009

Status

Validated

Chromosome

Chromosomal Location

112804616-113286973 bp(-) (GRCm38)

Type of Mutation

splice site (168 bp from exon)

DNA Base Change (assembly)

T to C at 112948380 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000138966] [ENSMUST00000171224]

AlphaFold

A7XUZ6

Predicted Effect

probably null
Transcript: ENSMUST00000138966

SMART Domains

Protein: ENSMUSP00000121870
Gene: ENSMUSG00000087194

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IGv	44	125	2.32e-8	SMART
internal_repeat_1	219	594	1.11e-41	PROSPERO
low complexity region	601	610	N/A	INTRINSIC
low complexity region	678	690	N/A	INTRINSIC
internal_repeat_1	701	1076	1.11e-41	PROSPERO
transmembrane domain	1087	1104	N/A	INTRINSIC
transmembrane domain	1164	1186	N/A	INTRINSIC
transmembrane domain	1206	1228	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000171224

SMART Domains

Protein: ENSMUSP00000132312
Gene: ENSMUSG00000087194

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IGv	44	125	2.32e-8	SMART
internal_repeat_1	219	594	1.11e-41	PROSPERO
low complexity region	601	610	N/A	INTRINSIC
low complexity region	678	690	N/A	INTRINSIC
internal_repeat_1	701	1076	1.11e-41	PROSPERO
transmembrane domain	1087	1104	N/A	INTRINSIC
transmembrane domain	1164	1186	N/A	INTRINSIC
transmembrane domain	1206	1228	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444G20Rik	C	T	10: 22,066,717 (GRCm38)	G455R	probably damaging	Het
Adgrg5	A	T	8: 94,933,942 (GRCm38)	T70S	probably damaging	Het
Adora1	T	C	1: 134,234,039 (GRCm38)	Y106C	probably damaging	Het
Aox3	T	A	1: 58,141,431 (GRCm38)	N250K	probably benign	Het
Ap2b1	A	T	11: 83,335,491 (GRCm38)	Y238F	possibly damaging	Het
Birc6	G	A	17: 74,612,220 (GRCm38)	S2015N	possibly damaging	Het
C7	A	G	15: 5,007,654 (GRCm38)	F581L	probably damaging	Het
Cd27	A	T	6: 125,233,664 (GRCm38)	H203Q	probably damaging	Het
Cdk2	A	G	10: 128,699,587 (GRCm38)	V274A	probably benign	Het
Cenpe	A	G	3: 135,243,822 (GRCm38)	T1351A	probably benign	Het
Chd7	T	C	4: 8,839,523 (GRCm38)	L1353P	probably damaging	Het
Dcc	C	T	18: 71,370,693 (GRCm38)	V945M	probably damaging	Het
Dio1	A	G	4: 107,297,725 (GRCm38)	V118A	probably damaging	Het
Dst	C	T	1: 34,212,298 (GRCm38)	T1818M	probably damaging	Het
Dthd1	T	A	5: 62,814,329 (GRCm38)	M165K	probably benign	Het
Eif5b	A	G	1: 38,046,660 (GRCm38)	I929V	probably benign	Het
F5	T	A	1: 164,186,902 (GRCm38)	S581T	probably damaging	Het
Fanca	A	C	8: 123,286,477 (GRCm38)	I761S	probably damaging	Het
Fat2	T	C	11: 55,282,241 (GRCm38)	T2549A	possibly damaging	Het
Fut2	A	G	7: 45,650,505 (GRCm38)	L281P	probably damaging	Het
Gm19410	C	A	8: 35,772,579 (GRCm38)	A143E	probably damaging	Het
Gm5431	T	C	11: 48,888,976 (GRCm38)	D651G	probably damaging	Het
Hook3	A	C	8: 26,032,422 (GRCm38)		probably null	Het
Ivd	G	T	2: 118,869,761 (GRCm38)	V90L	probably benign	Het
Klhdc7b	A	G	15: 89,388,356 (GRCm38)	Y1147C	possibly damaging	Het
Mlh1	G	A	9: 111,241,558 (GRCm38)	T363M	possibly damaging	Het
Ndufa3	A	T	7: 3,619,477 (GRCm38)	I45F	probably damaging	Het
Nell2	T	C	15: 95,241,587 (GRCm38)	D588G	probably damaging	Het
Nhlrc3	T	C	3: 53,453,575 (GRCm38)	N253S	probably benign	Het
Nlrp4c	T	A	7: 6,066,755 (GRCm38)	F552I	probably damaging	Het
Olfr1052	G	A	2: 86,297,923 (GRCm38)	A36T	probably benign	Het
Olfr578	A	C	7: 102,984,835 (GRCm38)	S110A	probably damaging	Het
Pcdhga12	T	C	18: 37,767,179 (GRCm38)	S355P	probably benign	Het
Pcdhga7	A	T	18: 37,715,873 (GRCm38)	Y311F	probably benign	Het
Phldb2	A	G	16: 45,748,725 (GRCm38)		probably null	Het
Plscr4	G	A	9: 92,483,836 (GRCm38)	V120I	probably damaging	Het
Plxna4	A	G	6: 32,310,522 (GRCm38)	V480A	probably benign	Het
Psrc1	A	T	3: 108,385,348 (GRCm38)	K152N	possibly damaging	Het
Ptcd3	A	C	6: 71,885,532 (GRCm38)	V473G	probably damaging	Het
Rab11fip1	ACTCT	ACT	8: 27,152,732 (GRCm38)		probably null	Het
Slc24a1	A	G	9: 64,948,323 (GRCm38)	V434A	probably benign	Het
Snd1	T	A	6: 28,668,610 (GRCm38)	V432E	probably benign	Het
Syne2	C	T	12: 75,942,885 (GRCm38)	T1847M	probably benign	Het
Tenm4	G	A	7: 96,553,496 (GRCm38)	R106H	probably benign	Het
Tes	C	A	6: 17,104,652 (GRCm38)	N377K	probably benign	Het
Tfip11	T	A	5: 112,333,597 (GRCm38)	I452N	probably benign	Het
Tgfbi	T	C	13: 56,637,203 (GRCm38)	S658P	probably benign	Het
Tmx4	A	C	2: 134,620,674 (GRCm38)	D112E	probably damaging	Het
Tnn	G	T	1: 160,104,842 (GRCm38)	D1367E	probably damaging	Het
Triobp	A	G	15: 78,966,615 (GRCm38)	N323S	possibly damaging	Het
Usp40	T	C	1: 87,981,033 (GRCm38)	D582G	probably benign	Het
Vmn2r99	A	G	17: 19,380,034 (GRCm38)	K440R	probably benign	Het
Zfp707	T	A	15: 75,974,899 (GRCm38)	L193Q	probably damaging	Het
Zfp748	T	C	13: 67,541,725 (GRCm38)	Y472C	probably damaging	Het

Other mutations in Skint6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Skint6	APN	4	112,804,682 (GRCm38)	missense	possibly damaging	0.96
IGL01296:Skint6	APN	4	113,236,440 (GRCm38)	missense	probably benign	0.37
IGL01343:Skint6	APN	4	113,283,626 (GRCm38)	missense	probably benign	0.07
IGL01543:Skint6	APN	4	112,899,963 (GRCm38)	missense	probably benign	0.18
IGL01633:Skint6	APN	4	113,238,049 (GRCm38)	missense	probably damaging	1.00
IGL01818:Skint6	APN	4	112,948,569 (GRCm38)	missense	probably benign	0.18
IGL02124:Skint6	APN	4	113,087,796 (GRCm38)	missense	probably benign
IGL02517:Skint6	APN	4	112,948,540 (GRCm38)	splice site	probably benign
IGL02647:Skint6	APN	4	113,127,891 (GRCm38)	splice site	probably benign
IGL02887:Skint6	APN	4	113,238,184 (GRCm38)	nonsense	probably null
IGL03026:Skint6	APN	4	112,991,244 (GRCm38)	splice site	probably null
IGL03030:Skint6	APN	4	113,012,956 (GRCm38)	missense	probably benign	0.03
meissner	UTSW	4	112,804,694 (GRCm38)	missense	possibly damaging	0.86
Tegmentum	UTSW	4	112,842,822 (GRCm38)	splice site	probably null
PIT4576001:Skint6	UTSW	4	113,053,367 (GRCm38)	missense	possibly damaging	0.91
R0058:Skint6	UTSW	4	113,046,815 (GRCm38)	splice site	probably benign
R0058:Skint6	UTSW	4	113,046,815 (GRCm38)	splice site	probably benign
R0099:Skint6	UTSW	4	112,811,501 (GRCm38)	missense	possibly damaging	0.53
R0158:Skint6	UTSW	4	113,184,814 (GRCm38)	splice site	probably benign
R0164:Skint6	UTSW	4	112,991,236 (GRCm38)	splice site	probably benign
R0312:Skint6	UTSW	4	112,809,100 (GRCm38)	missense	possibly damaging	0.86
R0591:Skint6	UTSW	4	112,858,169 (GRCm38)	splice site	probably benign
R0762:Skint6	UTSW	4	112,865,651 (GRCm38)	splice site	probably benign
R0941:Skint6	UTSW	4	113,238,358 (GRCm38)	missense	probably damaging	1.00
R1023:Skint6	UTSW	4	113,238,103 (GRCm38)	missense	probably benign	0.20
R1132:Skint6	UTSW	4	112,898,099 (GRCm38)	critical splice donor site	probably null
R1228:Skint6	UTSW	4	112,854,452 (GRCm38)	missense	probably benign
R1338:Skint6	UTSW	4	113,012,961 (GRCm38)	missense	possibly damaging	0.53
R1432:Skint6	UTSW	4	112,869,524 (GRCm38)	splice site	probably benign
R1512:Skint6	UTSW	4	113,238,132 (GRCm38)	missense	probably damaging	1.00
R1577:Skint6	UTSW	4	113,148,523 (GRCm38)	missense	possibly damaging	0.53
R1733:Skint6	UTSW	4	113,177,037 (GRCm38)	splice site	probably benign
R1762:Skint6	UTSW	4	113,236,481 (GRCm38)	missense	probably damaging	0.98
R1891:Skint6	UTSW	4	112,846,696 (GRCm38)	missense	possibly damaging	0.85
R1908:Skint6	UTSW	4	112,891,990 (GRCm38)	missense	probably benign
R2069:Skint6	UTSW	4	113,238,132 (GRCm38)	missense	probably damaging	1.00
R2089:Skint6	UTSW	4	112,846,684 (GRCm38)	missense	probably benign
R2091:Skint6	UTSW	4	112,846,684 (GRCm38)	missense	probably benign
R2091:Skint6	UTSW	4	112,846,684 (GRCm38)	missense	probably benign
R2144:Skint6	UTSW	4	113,236,260 (GRCm38)	missense	possibly damaging	0.84
R2166:Skint6	UTSW	4	112,854,452 (GRCm38)	missense	probably benign	0.01
R2192:Skint6	UTSW	4	112,865,712 (GRCm38)	nonsense	probably null
R2267:Skint6	UTSW	4	112,842,822 (GRCm38)	splice site	probably null
R2312:Skint6	UTSW	4	113,238,142 (GRCm38)	missense	probably damaging	1.00
R2324:Skint6	UTSW	4	112,872,457 (GRCm38)	splice site	probably null
R2342:Skint6	UTSW	4	113,176,983 (GRCm38)	missense	probably benign	0.00
R3028:Skint6	UTSW	4	113,236,493 (GRCm38)	missense	possibly damaging	0.92
R3704:Skint6	UTSW	4	113,136,472 (GRCm38)	missense	possibly damaging	0.86
R3752:Skint6	UTSW	4	112,842,899 (GRCm38)	splice site	probably benign
R3760:Skint6	UTSW	4	112,937,458 (GRCm38)	missense	possibly damaging	0.53
R3827:Skint6	UTSW	4	112,937,437 (GRCm38)	missense	probably benign
R4377:Skint6	UTSW	4	113,236,518 (GRCm38)	missense	possibly damaging	0.90
R4406:Skint6	UTSW	4	113,156,486 (GRCm38)	missense	probably benign	0.01
R4611:Skint6	UTSW	4	113,074,076 (GRCm38)	missense	probably benign
R4780:Skint6	UTSW	4	113,236,397 (GRCm38)	missense	probably damaging	0.98
R4788:Skint6	UTSW	4	113,238,336 (GRCm38)	missense	possibly damaging	0.54
R4818:Skint6	UTSW	4	112,955,392 (GRCm38)	intron	probably benign
R4900:Skint6	UTSW	4	113,067,470 (GRCm38)	missense	probably benign	0.03
R4972:Skint6	UTSW	4	112,835,068 (GRCm38)	missense	probably benign
R5008:Skint6	UTSW	4	112,991,255 (GRCm38)	missense	possibly damaging	0.86
R5016:Skint6	UTSW	4	113,171,533 (GRCm38)	critical splice acceptor site	probably null
R5085:Skint6	UTSW	4	113,236,268 (GRCm38)	missense	probably damaging	0.99
R5165:Skint6	UTSW	4	112,865,668 (GRCm38)	missense	possibly damaging	0.86
R5221:Skint6	UTSW	4	112,894,924 (GRCm38)	splice site	probably null
R5310:Skint6	UTSW	4	113,184,768 (GRCm38)	nonsense	probably null
R5423:Skint6	UTSW	4	112,850,740 (GRCm38)	missense	possibly damaging	0.93
R5436:Skint6	UTSW	4	113,096,591 (GRCm38)	missense	probably benign	0.08
R5447:Skint6	UTSW	4	113,105,909 (GRCm38)	missense	probably benign	0.34
R5564:Skint6	UTSW	4	112,988,965 (GRCm38)	missense	possibly damaging	0.72
R5629:Skint6	UTSW	4	113,012,979 (GRCm38)	missense	possibly damaging	0.86
R5936:Skint6	UTSW	4	113,096,593 (GRCm38)	missense	probably benign	0.33
R5993:Skint6	UTSW	4	112,809,079 (GRCm38)	missense	probably benign	0.02
R6027:Skint6	UTSW	4	113,096,564 (GRCm38)	splice site	probably null
R6174:Skint6	UTSW	4	112,839,313 (GRCm38)	missense	possibly damaging	0.53
R6497:Skint6	UTSW	4	113,236,398 (GRCm38)	missense	probably damaging	0.98
R6552:Skint6	UTSW	4	113,067,490 (GRCm38)	missense	possibly damaging	0.86
R6645:Skint6	UTSW	4	112,892,038 (GRCm38)	missense	possibly damaging	0.53
R7003:Skint6	UTSW	4	113,105,912 (GRCm38)	missense	probably benign	0.01
R7211:Skint6	UTSW	4	113,238,369 (GRCm38)	missense	probably benign	0.09
R7269:Skint6	UTSW	4	112,854,489 (GRCm38)	splice site	probably null
R7398:Skint6	UTSW	4	112,898,138 (GRCm38)	missense	probably benign	0.00
R7438:Skint6	UTSW	4	113,238,228 (GRCm38)	missense	probably damaging	1.00
R7461:Skint6	UTSW	4	113,177,046 (GRCm38)	splice site	probably null
R7536:Skint6	UTSW	4	112,811,547 (GRCm38)	critical splice acceptor site	probably null
R7613:Skint6	UTSW	4	113,177,046 (GRCm38)	splice site	probably null
R7956:Skint6	UTSW	4	112,846,697 (GRCm38)	missense	possibly damaging	0.85
R8118:Skint6	UTSW	4	113,156,494 (GRCm38)	missense	possibly damaging	0.73
R8118:Skint6	UTSW	4	112,865,675 (GRCm38)	missense	possibly damaging	0.53
R8197:Skint6	UTSW	4	112,894,843 (GRCm38)	splice site	probably null
R8218:Skint6	UTSW	4	112,839,274 (GRCm38)	splice site	probably null
R8344:Skint6	UTSW	4	113,236,445 (GRCm38)	missense	probably damaging	1.00
R8518:Skint6	UTSW	4	113,238,268 (GRCm38)	missense	possibly damaging	0.58
R8776:Skint6	UTSW	4	112,804,688 (GRCm38)	missense	possibly damaging	0.96
R8776-TAIL:Skint6	UTSW	4	112,804,688 (GRCm38)	missense	possibly damaging	0.96
R8794:Skint6	UTSW	4	113,192,672 (GRCm38)	missense	possibly damaging	0.73
R8796:Skint6	UTSW	4	112,804,694 (GRCm38)	missense	possibly damaging	0.86
R8812:Skint6	UTSW	4	112,988,952 (GRCm38)	missense	probably benign	0.00
R8866:Skint6	UTSW	4	112,854,453 (GRCm38)	missense	probably benign
R8881:Skint6	UTSW	4	112,815,519 (GRCm38)	missense	possibly damaging	0.53
R8949:Skint6	UTSW	4	113,074,099 (GRCm38)	missense	probably benign	0.04
R8967:Skint6	UTSW	4	112,872,504 (GRCm38)	nonsense	probably null
R9005:Skint6	UTSW	4	113,238,150 (GRCm38)	missense	probably damaging	1.00
R9007:Skint6	UTSW	4	113,238,150 (GRCm38)	missense	probably damaging	1.00
R9053:Skint6	UTSW	4	113,238,150 (GRCm38)	missense	probably damaging	1.00
R9055:Skint6	UTSW	4	113,238,150 (GRCm38)	missense	probably damaging	1.00
R9144:Skint6	UTSW	4	113,127,905 (GRCm38)	missense	possibly damaging	0.73
R9149:Skint6	UTSW	4	113,176,976 (GRCm38)	missense	probably damaging	0.98
R9297:Skint6	UTSW	4	112,811,520 (GRCm38)	missense	probably benign	0.00
R9388:Skint6	UTSW	4	113,192,641 (GRCm38)	missense	possibly damaging	0.85
R9407:Skint6	UTSW	4	113,177,027 (GRCm38)	missense	possibly damaging	0.53
R9475:Skint6	UTSW	4	112,806,840 (GRCm38)	critical splice donor site	probably null
R9515:Skint6	UTSW	4	112,858,178 (GRCm38)	missense	probably benign
R9572:Skint6	UTSW	4	113,127,931 (GRCm38)	missense	probably benign
R9689:Skint6	UTSW	4	113,236,349 (GRCm38)	missense	probably damaging	0.99
R9744:Skint6	UTSW	4	112,809,163 (GRCm38)	missense	probably damaging	1.00
R9785:Skint6	UTSW	4	112,883,687 (GRCm38)	missense	possibly damaging	0.86
Z1176:Skint6	UTSW	4	113,238,294 (GRCm38)	missense	probably damaging	0.96
Z1176:Skint6	UTSW	4	112,892,014 (GRCm38)	missense	possibly damaging	0.53
Z1176:Skint6	UTSW	4	113,238,295 (GRCm38)	missense	possibly damaging	0.83
Z1177:Skint6	UTSW	4	113,105,961 (GRCm38)	critical splice acceptor site	probably null
Z1177:Skint6	UTSW	4	112,806,928 (GRCm38)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGATGGGCCCAGTGTTTTC -3'
(R):5'- CTGCTTCTTCAAAGTTCCAGTG -3'

Sequencing Primer
(F):5'- TACTAGGCAATCTCTTCCACAAATG -3'
(R):5'- CTTCAAAGTTCCAGTGTGAATTTAGG -3'

Posted On

2018-09-12