Mutagenetix > Incidental Mutation

Incidental Mutation 'R1432:Skint6'

162288

Institutional Source

Beutler Lab

Gene Symbol

Skint6

Ensembl Gene

ENSMUSG00000087194

Gene Name

selection and upkeep of intraepithelial T cells 6

Synonyms

OTTMUSG00000008519

MMRRC Submission

039487-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R1432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112661813-113144170 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 112726721 bp (GRCm39)

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 benign
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 benign
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: 98.9%
3x: 97.8%
10x: 94.4%
20x: 86.1%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,217,361 (GRCm39)		probably null	Het
9130401M01Rik	A	T	15: 57,892,256 (GRCm39)	L117Q	probably damaging	Het
Abcb1b	A	G	5: 8,887,771 (GRCm39)	K886E	possibly damaging	Het
Acaa2	A	T	18: 74,920,198 (GRCm39)	I9F	probably damaging	Het
Acap2	A	T	16: 30,929,901 (GRCm39)	S386T	probably damaging	Het
Acsm2	A	T	7: 119,172,798 (GRCm39)	I138F	possibly damaging	Het
Agl	T	C	3: 116,540,342 (GRCm39)	Y1424C	probably damaging	Het
Aoc1l1	T	A	6: 48,952,588 (GRCm39)	F171Y	probably damaging	Het
Apc2	T	C	10: 80,148,183 (GRCm39)	V1079A	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Armc8	C	T	9: 99,405,185 (GRCm39)		probably benign	Het
Catsperb	A	G	12: 101,588,476 (GRCm39)	Y953C	probably damaging	Het
Cdk13	G	A	13: 17,893,001 (GRCm39)	A720V	probably damaging	Het
Chka	T	C	19: 3,924,809 (GRCm39)		probably benign	Het
Clcc1	T	C	3: 108,575,418 (GRCm39)	I165T	probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Dip2c	C	A	13: 9,603,340 (GRCm39)	P297Q	probably damaging	Het
Dnah17	A	T	11: 117,914,153 (GRCm39)	W4429R	probably damaging	Het
Dram2	T	C	3: 106,478,082 (GRCm39)	V138A	possibly damaging	Het
Dus4l	T	C	12: 31,698,770 (GRCm39)	N78S	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Ebf1	T	C	11: 44,895,533 (GRCm39)		probably benign	Het
Epm2a	T	A	10: 11,266,587 (GRCm39)	Y111N	probably damaging	Het
Gm773	T	C	X: 55,247,377 (GRCm39)	T52A	probably benign	Het
Gpam	C	A	19: 55,067,693 (GRCm39)	M483I	probably damaging	Het
Gpr12	T	C	5: 146,520,235 (GRCm39)	H229R	probably damaging	Het
Gpr149	T	C	3: 62,438,439 (GRCm39)	T573A	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hells	T	A	19: 38,945,628 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,372,751 (GRCm39)	N3102K	probably benign	Het
Herc3	A	T	6: 58,893,827 (GRCm39)	T968S	possibly damaging	Het
Ift88	A	G	14: 57,674,736 (GRCm39)	Y69C	probably benign	Het
Incenp	G	A	19: 9,862,890 (GRCm39)	T388M	unknown	Het
Jrkl	A	G	9: 13,245,337 (GRCm39)	F108S	probably benign	Het
Khdc1a	A	G	1: 21,420,542 (GRCm39)	E54G	possibly damaging	Het
Kif6	T	A	17: 49,927,728 (GRCm39)	F58L	probably damaging	Het
Klk14	T	C	7: 43,344,342 (GRCm39)	S218P	probably damaging	Het
Kmt2e	T	C	5: 23,655,319 (GRCm39)	M19T	probably benign	Het
Llgl1	G	T	11: 60,599,380 (GRCm39)	G454C	probably damaging	Het
Lyrm4	A	G	13: 36,276,898 (GRCm39)	V33A	probably benign	Het
Mcam	C	T	9: 44,052,588 (GRCm39)	R606C	probably damaging	Het
Mgam	T	A	6: 40,733,301 (GRCm39)	M692K	probably damaging	Het
Mmp28	C	T	11: 83,333,765 (GRCm39)	R392H	probably damaging	Het
Mpdz	G	A	4: 81,210,788 (GRCm39)	T1699M	probably damaging	Het
Mrps11	T	C	7: 78,433,310 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,218,866 (GRCm39)	N504S	probably benign	Het
Msmo1	A	G	8: 65,180,650 (GRCm39)		probably benign	Het
Mst1	A	G	9: 107,961,403 (GRCm39)	E571G	probably benign	Het
Myh14	T	C	7: 44,265,723 (GRCm39)	E1585G	probably damaging	Het
Myrfl	A	G	10: 116,613,332 (GRCm39)	C824R	probably damaging	Het
Ncapd3	C	T	9: 26,981,168 (GRCm39)		probably benign	Het
Nlrp4a	G	GGTTCTTC	7: 26,163,622 (GRCm39)		probably null	Het
Nos1	C	T	5: 118,087,684 (GRCm39)		probably benign	Het
Notch3	T	C	17: 32,383,198 (GRCm39)	S47G	probably benign	Het
Npsr1	A	G	9: 24,221,371 (GRCm39)	Y122C	probably damaging	Het
Or10ak12	T	C	4: 118,666,435 (GRCm39)	M209V	probably benign	Het
Or1j11	C	T	2: 36,311,655 (GRCm39)	L82F	probably damaging	Het
Or5a1	G	T	19: 12,097,603 (GRCm39)	R158S	possibly damaging	Het
Or6c1b	C	T	10: 129,272,807 (GRCm39)	T42I	probably damaging	Het
Or6k2	T	A	1: 173,986,483 (GRCm39)	V48E	possibly damaging	Het
Or8b9	T	A	9: 37,766,548 (GRCm39)	L145M	possibly damaging	Het
Otog	G	T	7: 45,950,007 (GRCm39)	V2490F	probably damaging	Het
Pibf1	T	C	14: 99,350,425 (GRCm39)	V191A	probably benign	Het
Pip	A	G	6: 41,826,852 (GRCm39)	M66V	probably benign	Het
Plxna2	C	T	1: 194,449,771 (GRCm39)	R830C	probably benign	Het
Prkca	A	T	11: 107,830,346 (GRCm39)	V248E	probably benign	Het
Prmt7	T	A	8: 106,963,916 (GRCm39)	L253*	probably null	Het
Prrc2a	G	T	17: 35,372,888 (GRCm39)		probably benign	Het
Rasgrf1	A	G	9: 89,894,853 (GRCm39)	D1091G	probably benign	Het
Rbm7	C	A	9: 48,401,245 (GRCm39)	G161V	probably benign	Het
Scn1a	A	T	2: 66,152,773 (GRCm39)	I736N	probably damaging	Het
Slc22a2	C	T	17: 12,803,195 (GRCm39)	H10Y	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stam2	A	G	2: 52,604,821 (GRCm39)		probably benign	Het
Stk40	T	C	4: 126,030,626 (GRCm39)	L282P	probably damaging	Het
Tas2r110	A	G	6: 132,845,331 (GRCm39)	N121D	probably damaging	Het
Tbc1d32	A	G	10: 55,893,758 (GRCm39)	Y1272H	probably damaging	Het
Thoc2l	T	C	5: 104,665,970 (GRCm39)	F164S	probably damaging	Het
Tmem131l	T	C	3: 83,836,021 (GRCm39)	D696G	probably damaging	Het
Trdmt1	T	C	2: 13,524,657 (GRCm39)	Y266C	probably damaging	Het
Trim5	G	T	7: 103,928,726 (GRCm39)	H72N	probably benign	Het
Trim5	A	C	7: 103,928,728 (GRCm39)	L71R	probably benign	Het
Twf2	T	A	9: 106,092,012 (GRCm39)		probably benign	Het
Ubap2l	T	C	3: 89,926,635 (GRCm39)	T580A	probably benign	Het
Ugt1a10	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Unc5a	A	G	13: 55,152,285 (GRCm39)		probably benign	Het
Vmn2r85	T	C	10: 130,261,155 (GRCm39)	N394S	possibly damaging	Het
Wrn	A	T	8: 33,809,169 (GRCm39)		probably benign	Het

Other mutations in Skint6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Skint6	APN	4	112,661,879 (GRCm39)	missense	possibly damaging	0.96
IGL01296:Skint6	APN	4	113,093,637 (GRCm39)	missense	probably benign	0.37
IGL01343:Skint6	APN	4	113,140,823 (GRCm39)	missense	probably benign	0.07
IGL01543:Skint6	APN	4	112,757,160 (GRCm39)	missense	probably benign	0.18
IGL01633:Skint6	APN	4	113,095,246 (GRCm39)	missense	probably damaging	1.00
IGL01818:Skint6	APN	4	112,805,766 (GRCm39)	missense	probably benign	0.18
IGL02124:Skint6	APN	4	112,944,993 (GRCm39)	missense	probably benign
IGL02517:Skint6	APN	4	112,805,737 (GRCm39)	splice site	probably benign
IGL02647:Skint6	APN	4	112,985,088 (GRCm39)	splice site	probably benign
IGL02887:Skint6	APN	4	113,095,381 (GRCm39)	nonsense	probably null
IGL03026:Skint6	APN	4	112,848,441 (GRCm39)	splice site	probably null
IGL03030:Skint6	APN	4	112,870,153 (GRCm39)	missense	probably benign	0.03
meissner	UTSW	4	112,661,891 (GRCm39)	missense	possibly damaging	0.86
Tegmentum	UTSW	4	112,700,019 (GRCm39)	splice site	probably null
PIT4576001:Skint6	UTSW	4	112,910,564 (GRCm39)	missense	possibly damaging	0.91
R0058:Skint6	UTSW	4	112,904,012 (GRCm39)	splice site	probably benign
R0058:Skint6	UTSW	4	112,904,012 (GRCm39)	splice site	probably benign
R0099:Skint6	UTSW	4	112,668,698 (GRCm39)	missense	possibly damaging	0.53
R0158:Skint6	UTSW	4	113,042,011 (GRCm39)	splice site	probably benign
R0164:Skint6	UTSW	4	112,848,433 (GRCm39)	splice site	probably benign
R0312:Skint6	UTSW	4	112,666,297 (GRCm39)	missense	possibly damaging	0.86
R0591:Skint6	UTSW	4	112,715,366 (GRCm39)	splice site	probably benign
R0762:Skint6	UTSW	4	112,722,848 (GRCm39)	splice site	probably benign
R0941:Skint6	UTSW	4	113,095,555 (GRCm39)	missense	probably damaging	1.00
R1023:Skint6	UTSW	4	113,095,300 (GRCm39)	missense	probably benign	0.20
R1132:Skint6	UTSW	4	112,755,296 (GRCm39)	critical splice donor site	probably null
R1228:Skint6	UTSW	4	112,711,649 (GRCm39)	missense	probably benign
R1338:Skint6	UTSW	4	112,870,158 (GRCm39)	missense	possibly damaging	0.53
R1512:Skint6	UTSW	4	113,095,329 (GRCm39)	missense	probably damaging	1.00
R1577:Skint6	UTSW	4	113,005,720 (GRCm39)	missense	possibly damaging	0.53
R1733:Skint6	UTSW	4	113,034,234 (GRCm39)	splice site	probably benign
R1762:Skint6	UTSW	4	113,093,678 (GRCm39)	missense	probably damaging	0.98
R1891:Skint6	UTSW	4	112,703,893 (GRCm39)	missense	possibly damaging	0.85
R1908:Skint6	UTSW	4	112,749,187 (GRCm39)	missense	probably benign
R2069:Skint6	UTSW	4	113,095,329 (GRCm39)	missense	probably damaging	1.00
R2089:Skint6	UTSW	4	112,703,881 (GRCm39)	missense	probably benign
R2091:Skint6	UTSW	4	112,703,881 (GRCm39)	missense	probably benign
R2091:Skint6	UTSW	4	112,703,881 (GRCm39)	missense	probably benign
R2144:Skint6	UTSW	4	113,093,457 (GRCm39)	missense	possibly damaging	0.84
R2166:Skint6	UTSW	4	112,711,649 (GRCm39)	missense	probably benign	0.01
R2192:Skint6	UTSW	4	112,722,909 (GRCm39)	nonsense	probably null
R2267:Skint6	UTSW	4	112,700,019 (GRCm39)	splice site	probably null
R2312:Skint6	UTSW	4	113,095,339 (GRCm39)	missense	probably damaging	1.00
R2324:Skint6	UTSW	4	112,729,654 (GRCm39)	splice site	probably null
R2342:Skint6	UTSW	4	113,034,180 (GRCm39)	missense	probably benign	0.00
R3028:Skint6	UTSW	4	113,093,690 (GRCm39)	missense	possibly damaging	0.92
R3704:Skint6	UTSW	4	112,993,669 (GRCm39)	missense	possibly damaging	0.86
R3752:Skint6	UTSW	4	112,700,096 (GRCm39)	splice site	probably benign
R3760:Skint6	UTSW	4	112,794,655 (GRCm39)	missense	possibly damaging	0.53
R3827:Skint6	UTSW	4	112,794,634 (GRCm39)	missense	probably benign
R4377:Skint6	UTSW	4	113,093,715 (GRCm39)	missense	possibly damaging	0.90
R4406:Skint6	UTSW	4	113,013,683 (GRCm39)	missense	probably benign	0.01
R4611:Skint6	UTSW	4	112,931,273 (GRCm39)	missense	probably benign
R4780:Skint6	UTSW	4	113,093,594 (GRCm39)	missense	probably damaging	0.98
R4788:Skint6	UTSW	4	113,095,533 (GRCm39)	missense	possibly damaging	0.54
R4818:Skint6	UTSW	4	112,812,589 (GRCm39)	intron	probably benign
R4900:Skint6	UTSW	4	112,924,667 (GRCm39)	missense	probably benign	0.03
R4972:Skint6	UTSW	4	112,692,265 (GRCm39)	missense	probably benign
R5008:Skint6	UTSW	4	112,848,452 (GRCm39)	missense	possibly damaging	0.86
R5016:Skint6	UTSW	4	113,028,730 (GRCm39)	critical splice acceptor site	probably null
R5085:Skint6	UTSW	4	113,093,465 (GRCm39)	missense	probably damaging	0.99
R5165:Skint6	UTSW	4	112,722,865 (GRCm39)	missense	possibly damaging	0.86
R5221:Skint6	UTSW	4	112,752,121 (GRCm39)	splice site	probably null
R5310:Skint6	UTSW	4	113,041,965 (GRCm39)	nonsense	probably null
R5423:Skint6	UTSW	4	112,707,937 (GRCm39)	missense	possibly damaging	0.93
R5436:Skint6	UTSW	4	112,953,788 (GRCm39)	missense	probably benign	0.08
R5447:Skint6	UTSW	4	112,963,106 (GRCm39)	missense	probably benign	0.34
R5564:Skint6	UTSW	4	112,846,162 (GRCm39)	missense	possibly damaging	0.72
R5629:Skint6	UTSW	4	112,870,176 (GRCm39)	missense	possibly damaging	0.86
R5936:Skint6	UTSW	4	112,953,790 (GRCm39)	missense	probably benign	0.33
R5993:Skint6	UTSW	4	112,666,276 (GRCm39)	missense	probably benign	0.02
R6027:Skint6	UTSW	4	112,953,761 (GRCm39)	splice site	probably null
R6174:Skint6	UTSW	4	112,696,510 (GRCm39)	missense	possibly damaging	0.53
R6497:Skint6	UTSW	4	113,093,595 (GRCm39)	missense	probably damaging	0.98
R6552:Skint6	UTSW	4	112,924,687 (GRCm39)	missense	possibly damaging	0.86
R6645:Skint6	UTSW	4	112,749,235 (GRCm39)	missense	possibly damaging	0.53
R6810:Skint6	UTSW	4	112,805,577 (GRCm39)	splice site	probably null
R7003:Skint6	UTSW	4	112,963,109 (GRCm39)	missense	probably benign	0.01
R7211:Skint6	UTSW	4	113,095,566 (GRCm39)	missense	probably benign	0.09
R7269:Skint6	UTSW	4	112,711,686 (GRCm39)	splice site	probably null
R7398:Skint6	UTSW	4	112,755,335 (GRCm39)	missense	probably benign	0.00
R7438:Skint6	UTSW	4	113,095,425 (GRCm39)	missense	probably damaging	1.00
R7461:Skint6	UTSW	4	113,034,243 (GRCm39)	splice site	probably null
R7536:Skint6	UTSW	4	112,668,744 (GRCm39)	critical splice acceptor site	probably null
R7613:Skint6	UTSW	4	113,034,243 (GRCm39)	splice site	probably null
R7956:Skint6	UTSW	4	112,703,894 (GRCm39)	missense	possibly damaging	0.85
R8118:Skint6	UTSW	4	113,013,691 (GRCm39)	missense	possibly damaging	0.73
R8118:Skint6	UTSW	4	112,722,872 (GRCm39)	missense	possibly damaging	0.53
R8197:Skint6	UTSW	4	112,752,040 (GRCm39)	splice site	probably null
R8218:Skint6	UTSW	4	112,696,471 (GRCm39)	splice site	probably null
R8344:Skint6	UTSW	4	113,093,642 (GRCm39)	missense	probably damaging	1.00
R8518:Skint6	UTSW	4	113,095,465 (GRCm39)	missense	possibly damaging	0.58
R8776:Skint6	UTSW	4	112,661,885 (GRCm39)	missense	possibly damaging	0.96
R8776-TAIL:Skint6	UTSW	4	112,661,885 (GRCm39)	missense	possibly damaging	0.96
R8794:Skint6	UTSW	4	113,049,869 (GRCm39)	missense	possibly damaging	0.73
R8796:Skint6	UTSW	4	112,661,891 (GRCm39)	missense	possibly damaging	0.86
R8812:Skint6	UTSW	4	112,846,149 (GRCm39)	missense	probably benign	0.00
R8866:Skint6	UTSW	4	112,711,650 (GRCm39)	missense	probably benign
R8881:Skint6	UTSW	4	112,672,716 (GRCm39)	missense	possibly damaging	0.53
R8949:Skint6	UTSW	4	112,931,296 (GRCm39)	missense	probably benign	0.04
R8967:Skint6	UTSW	4	112,729,701 (GRCm39)	nonsense	probably null
R9005:Skint6	UTSW	4	113,095,347 (GRCm39)	missense	probably damaging	1.00
R9007:Skint6	UTSW	4	113,095,347 (GRCm39)	missense	probably damaging	1.00
R9053:Skint6	UTSW	4	113,095,347 (GRCm39)	missense	probably damaging	1.00
R9055:Skint6	UTSW	4	113,095,347 (GRCm39)	missense	probably damaging	1.00
R9144:Skint6	UTSW	4	112,985,102 (GRCm39)	missense	possibly damaging	0.73
R9149:Skint6	UTSW	4	113,034,173 (GRCm39)	missense	probably damaging	0.98
R9297:Skint6	UTSW	4	112,668,717 (GRCm39)	missense	probably benign	0.00
R9388:Skint6	UTSW	4	113,049,838 (GRCm39)	missense	possibly damaging	0.85
R9407:Skint6	UTSW	4	113,034,224 (GRCm39)	missense	possibly damaging	0.53
R9475:Skint6	UTSW	4	112,664,037 (GRCm39)	critical splice donor site	probably null
R9515:Skint6	UTSW	4	112,715,375 (GRCm39)	missense	probably benign
R9572:Skint6	UTSW	4	112,985,128 (GRCm39)	missense	probably benign
R9689:Skint6	UTSW	4	113,093,546 (GRCm39)	missense	probably damaging	0.99
R9744:Skint6	UTSW	4	112,666,360 (GRCm39)	missense	probably damaging	1.00
R9785:Skint6	UTSW	4	112,740,884 (GRCm39)	missense	possibly damaging	0.86
Z1176:Skint6	UTSW	4	113,095,491 (GRCm39)	missense	probably damaging	0.96
Z1176:Skint6	UTSW	4	112,749,211 (GRCm39)	missense	possibly damaging	0.53
Z1176:Skint6	UTSW	4	113,095,492 (GRCm39)	missense	possibly damaging	0.83
Z1177:Skint6	UTSW	4	112,963,158 (GRCm39)	critical splice acceptor site	probably null
Z1177:Skint6	UTSW	4	112,664,125 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

Posted On

2014-03-14