Mutagenetix > Incidental Mutation

Incidental Mutation 'R1512:Skint6'

168400

Institutional Source

Beutler Lab

Gene Symbol

Skint6

Ensembl Gene

ENSMUSG00000087194

Gene Name

selection and upkeep of intraepithelial T cells 6

Synonyms

OTTMUSG00000008519

MMRRC Submission

039559-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R1512 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112661813-113144170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113095329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 110 (I110T)

Ref Sequence

ENSEMBL: ENSMUSP00000132312 (fasta)

Gene Model

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

AlphaFold

A7XUZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000138966
AA Change: I110T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121870
Gene: ENSMUSG00000087194
AA Change: I110T

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 damaging
Transcript: ENSMUST00000171224
AA Change: I110T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132312
Gene: ENSMUSG00000087194
AA Change: I110T

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

95% (79/83)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,086,295 (GRCm39)	D40E	probably benign	Het
Acsf2	C	T	11: 94,452,224 (GRCm39)		probably benign	Het
Adamts19	C	T	18: 59,181,917 (GRCm39)	H1119Y	possibly damaging	Het
Akap6	A	G	12: 52,983,937 (GRCm39)	D827G	probably damaging	Het
Ankrd33b	T	C	15: 31,367,375 (GRCm39)	D55G	probably damaging	Het
Ano5	T	A	7: 51,229,316 (GRCm39)	H569Q	probably benign	Het
Aox1	A	G	1: 58,346,510 (GRCm39)	D548G	probably benign	Het
Baz2a	A	G	10: 127,960,021 (GRCm39)	D1433G	possibly damaging	Het
BC031181	T	G	18: 75,141,767 (GRCm39)	V8G	probably damaging	Het
Bicdl2	A	T	17: 23,887,083 (GRCm39)	M457L	probably damaging	Het
C130074G19Rik	T	C	1: 184,615,103 (GRCm39)	D29G	probably damaging	Het
Cd200r1	A	T	16: 44,586,390 (GRCm39)	T7S	probably benign	Het
Cdc37	A	G	9: 21,053,712 (GRCm39)		probably benign	Het
Cmtr2	T	C	8: 110,949,267 (GRCm39)	S526P	probably damaging	Het
Cntn2	G	T	1: 132,451,430 (GRCm39)	A433D	probably damaging	Het
Cntnap5a	T	C	1: 115,828,680 (GRCm39)	S35P	probably benign	Het
Csf3r	A	G	4: 125,923,777 (GRCm39)	T96A	possibly damaging	Het
Ctbs	A	G	3: 146,160,720 (GRCm39)	N96D	probably benign	Het
Cyp26b1	C	A	6: 84,553,979 (GRCm39)	V213L	probably benign	Het
Dach1	A	G	14: 98,138,835 (GRCm39)	L536P	probably damaging	Het
Dcaf6	T	C	1: 165,179,589 (GRCm39)	Q517R	probably benign	Het
Dnah1	G	T	14: 31,014,994 (GRCm39)	Q1733K	probably damaging	Het
Dnah17	A	T	11: 117,985,841 (GRCm39)	I1416N	probably benign	Het
Dock11	G	A	X: 35,283,688 (GRCm39)	R1102H	probably damaging	Het
Dpp8	T	C	9: 64,971,096 (GRCm39)		probably benign	Het
Emc1	G	A	4: 139,087,495 (GRCm39)		probably null	Het
Emc8	A	G	8: 121,384,983 (GRCm39)	L76P	possibly damaging	Het
Emx2	T	C	19: 59,448,035 (GRCm39)	Y130H	possibly damaging	Het
Fbf1	C	T	11: 116,038,753 (GRCm39)	R815Q	probably damaging	Het
Foxb2	G	A	19: 16,849,878 (GRCm39)	P376L	probably damaging	Het
Gabrb1	C	A	5: 72,266,047 (GRCm39)	L202I	probably damaging	Het
Gabrb1	T	A	5: 72,266,048 (GRCm39)	L202Q	probably damaging	Het
Grin2c	T	A	11: 115,144,676 (GRCm39)	I617F	probably damaging	Het
Gtf2h3	T	A	5: 124,728,933 (GRCm39)	V164E	probably damaging	Het
Gusb	T	C	5: 130,029,731 (GRCm39)	Q88R	probably damaging	Het
Hormad2	T	A	11: 4,374,788 (GRCm39)	K75N	probably damaging	Het
Il33	A	G	19: 29,929,390 (GRCm39)	T38A	possibly damaging	Het
Ivns1abp	A	T	1: 151,236,687 (GRCm39)	Q416L	possibly damaging	Het
Ivns1abp	G	C	1: 151,236,688 (GRCm39)	Q416H	probably benign	Het
Kcnh5	T	A	12: 75,166,711 (GRCm39)	H178L	probably benign	Het
Kif21b	A	G	1: 136,080,543 (GRCm39)	N579S	probably benign	Het
Kif26a	G	C	12: 112,113,389 (GRCm39)	R95P	possibly damaging	Het
Kl	A	G	5: 150,912,062 (GRCm39)	I604V	probably benign	Het
Klhl24	A	G	16: 19,941,686 (GRCm39)	K545E	probably damaging	Het
Mcm3ap	A	G	10: 76,306,347 (GRCm39)	I153M	probably damaging	Het
Meis1	T	G	11: 18,831,682 (GRCm39)	D452A	probably damaging	Het
Msantd4	C	T	9: 4,384,138 (GRCm39)	P153L	probably benign	Het
Myot	A	G	18: 44,475,422 (GRCm39)	E181G	probably damaging	Het
Nf1	T	C	11: 79,281,195 (GRCm39)	F150S	probably damaging	Het
Nyap2	T	A	1: 81,219,566 (GRCm39)	S529R	probably damaging	Het
Or10d3	T	C	9: 39,461,390 (GRCm39)	Y259C	probably damaging	Het
Or12e10	A	T	2: 87,640,988 (GRCm39)	T275S	probably benign	Het
Or2y1c	A	G	11: 49,361,286 (GRCm39)	I103V	probably benign	Het
Or8b56	T	A	9: 38,739,660 (GRCm39)	Y224*	probably null	Het
Pcnt	C	T	10: 76,240,496 (GRCm39)		probably null	Het
Pik3c3	T	C	18: 30,455,289 (GRCm39)		probably null	Het
Pkdcc	A	T	17: 83,527,473 (GRCm39)	Y217F	possibly damaging	Het
Pnpla6	C	A	8: 3,585,459 (GRCm39)		probably benign	Het
Polr3gl	T	C	3: 96,488,190 (GRCm39)	M26V	probably benign	Het
Ppp1r13b	T	C	12: 111,838,842 (GRCm39)	N12S	possibly damaging	Het
Ppp1r26	G	A	2: 28,341,528 (GRCm39)	R386K	probably benign	Het
Prdm10	A	G	9: 31,248,697 (GRCm39)	E355G	probably damaging	Het
Prex2	T	C	1: 11,131,554 (GRCm39)	F41S	possibly damaging	Het
Prkar1b	G	T	5: 139,036,428 (GRCm39)	Y231*	probably null	Het
Prkdc	A	T	16: 15,505,268 (GRCm39)	I857L	probably benign	Het
Psg21	A	T	7: 18,390,425 (GRCm39)	N10K	probably benign	Het
Rapgef3	A	T	15: 97,655,382 (GRCm39)	V444E	probably benign	Het
Rnf17	A	T	14: 56,705,243 (GRCm39)	T716S	probably benign	Het
Rps6ka1	C	T	4: 133,578,315 (GRCm39)	R577H	probably damaging	Het
Scn1a	A	C	2: 66,161,629 (GRCm39)	N306K	possibly damaging	Het
Ssu2	A	G	6: 112,364,959 (GRCm39)	M1T	probably null	Het
Stag3	A	T	5: 138,296,247 (GRCm39)	T437S	probably benign	Het
Tal2	A	G	4: 53,786,107 (GRCm39)	Y96C	probably benign	Het
Thoc3	A	T	13: 54,613,991 (GRCm39)		probably null	Het
Tle1	T	C	4: 72,059,495 (GRCm39)	D19G	probably damaging	Het
Trpm4	A	G	7: 44,964,468 (GRCm39)	I690T	probably benign	Het
Trpm6	A	T	19: 18,853,295 (GRCm39)	M1772L	probably benign	Het
Unc5b	G	A	10: 60,667,254 (GRCm39)		probably benign	Het
Usf3	G	T	16: 44,041,561 (GRCm39)	V2014F	probably damaging	Het
Utp18	C	T	11: 93,776,390 (GRCm39)	A32T	probably benign	Het
Wdfy4	A	G	14: 32,682,765 (GRCm39)	V2981A	probably damaging	Het
Zfp608	A	G	18: 55,079,738 (GRCm39)	V349A	probably damaging	Het
Znfx1	A	C	2: 166,898,237 (GRCm39)	I229S	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
R1432:Skint6	UTSW	4	112,726,721 (GRCm39)	splice site	probably benign
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

PCR Primer
(F):5'- CAGAGGGCTGCATTATGTCCCTTTATT -3'
(R):5'- GGAAATTCGCTGGTTCAAGAATCGCTAT -3'

Sequencing Primer
(F):5'- GATCATCTTGTTAGTCAATCCATGC -3'
(R):5'- GCTATTCAGAGCCAGTATACCTG -3'

Posted On

2014-04-13