Mutagenetix > Incidental Mutation

Incidental Mutation 'R5221:Skint6'

402308

Institutional Source

Beutler Lab

Gene Symbol

Skint6

Ensembl Gene

ENSMUSG00000087194

Gene Name

selection and upkeep of intraepithelial T cells 6

Synonyms

OTTMUSG00000008519

MMRRC Submission

042794-MU

Accession Numbers

Essential gene?

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

Stock #

R5221 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112661813-113144170 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 112752121 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 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1b	T	C	3: 92,335,815 (GRCm39)	I296V	probably benign	Het
Antkmt	T	C	17: 26,010,613 (GRCm39)	N67S	possibly damaging	Het
Arhgap26	T	A	18: 39,243,525 (GRCm39)	Y134*	probably null	Het
Asap2	A	G	12: 21,263,191 (GRCm39)	I269V	probably benign	Het
Bean1	A	T	8: 104,941,784 (GRCm39)	D34V	probably damaging	Het
C8a	C	T	4: 104,703,122 (GRCm39)	V312M	probably damaging	Het
Ccser1	T	C	6: 61,289,075 (GRCm39)	S413P	probably damaging	Het
Col4a2	A	G	8: 11,498,225 (GRCm39)	N1678S	probably benign	Het
Coq2	G	A	5: 100,805,698 (GRCm39)	H313Y	possibly damaging	Het
Dsg1a	T	A	18: 20,457,071 (GRCm39)	M148K	possibly damaging	Het
Farp2	T	A	1: 93,504,140 (GRCm39)	C306S	probably damaging	Het
Frem2	A	G	3: 53,493,032 (GRCm39)	V1828A	probably damaging	Het
Gm6457	T	C	18: 14,703,174 (GRCm39)		noncoding transcript	Het
Gmip	T	G	8: 70,266,785 (GRCm39)	V300G	probably damaging	Het
Gstp3	A	G	19: 4,107,607 (GRCm39)	S186P	probably damaging	Het
Gvin-ps3	G	C	7: 105,683,181 (GRCm39)		noncoding transcript	Het
Kl	G	T	5: 150,912,616 (GRCm39)	L788F	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrp1b	A	C	2: 41,002,994 (GRCm39)	S1932A	possibly damaging	Het
Lrrc36	A	G	8: 106,170,488 (GRCm39)	T234A	probably damaging	Het
Mafa	T	A	15: 75,618,891 (GRCm39)	Q294L	possibly damaging	Het
Mesp2	C	T	7: 79,461,467 (GRCm39)	T264I	possibly damaging	Het
Mindy4	A	G	6: 55,201,092 (GRCm39)	Y259C	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2d3c	A	T	7: 106,526,268 (GRCm39)	S133T	probably benign	Het
Or5as1	T	C	2: 86,980,825 (GRCm39)	Y60C	probably damaging	Het
Or5m13b	A	G	2: 85,754,493 (GRCm39)	N294D	probably damaging	Het
Or8b48	A	T	9: 38,493,148 (GRCm39)	T192S	probably damaging	Het
Pcm1	T	C	8: 41,741,193 (GRCm39)		probably null	Het
Plxna1	T	C	6: 89,297,998 (GRCm39)	D1760G	probably damaging	Het
Polq	T	A	16: 36,862,540 (GRCm39)	D345E	probably damaging	Het
Ppp1r14a	T	A	7: 28,988,926 (GRCm39)	I56N	probably damaging	Het
Ppp1r1a	G	A	15: 103,441,477 (GRCm39)	P79S	probably damaging	Het
Ptprf	C	T	4: 118,082,305 (GRCm39)	R1010H	probably benign	Het
Rai1	A	G	11: 60,081,423 (GRCm39)	E1829G	probably damaging	Het
Rmdn3	A	G	2: 118,986,935 (GRCm39)	Y31H	probably damaging	Het
Rrh	T	C	3: 129,609,280 (GRCm39)	S69G	probably damaging	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
Sltm	T	G	9: 70,486,685 (GRCm39)	L450R	probably damaging	Het
Sufu	T	C	19: 46,439,404 (GRCm39)		probably null	Het
Tmem68	T	C	4: 3,560,561 (GRCm39)	T208A	possibly damaging	Het
Tnc	T	A	4: 63,911,534 (GRCm39)	R1346*	probably null	Het
Tpbg	T	C	9: 85,726,478 (GRCm39)	L149P	probably damaging	Het
Trappc14	C	T	5: 138,260,502 (GRCm39)	S308N	probably benign	Het
Ubtf	G	A	11: 102,198,816 (GRCm39)	Q585*	probably null	Het
Vmn2r68	A	T	7: 84,871,085 (GRCm39)	C733S	probably damaging	Het
Vmn2r-ps158	T	A	7: 42,672,684 (GRCm39)	H106Q	probably benign	Het
Wscd1	G	T	11: 71,659,501 (GRCm39)	G194W	possibly damaging	Het
Zfp354b	A	C	11: 50,813,917 (GRCm39)	I336S	probably benign	Het
Zfp462	T	A	4: 55,016,887 (GRCm39)	V870E	possibly damaging	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
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
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'- TTGCAATTTTAATTTTGGCCTCTGAT -3'
(R):5'- TCAGAGTGATCATGGAGGAGTGT -3'

Sequencing Primer
(F):5'- CTAGAGTAGTTTTGCCCTAGAGCAAG -3'
(R):5'- CTAGCTGACATCCAGACAGTG -3'

Posted On

2016-07-22