Mutagenetix > Incidental Mutation

Incidental Mutation 'R8881:Skint6'

676896

Institutional Source

Beutler Lab

Gene Symbol

Skint6

Ensembl Gene

ENSMUSG00000087194

Gene Name

selection and upkeep of intraepithelial T cells 6

Synonyms

OTTMUSG00000008519

MMRRC Submission

068749-MU

Accession Numbers

Essential gene?

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

Stock #

R8881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112804616-113286973 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112815519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1086 (K1086E)

Ref Sequence

ENSEMBL: ENSMUSP00000121870 (fasta)

Gene Model

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

AlphaFold

A7XUZ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138966
AA Change: K1086E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121870
Gene: ENSMUSG00000087194
AA Change: K1086E

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

possibly damaging
Transcript: ENSMUST00000171224
AA Change: K1086E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132312
Gene: ENSMUSG00000087194
AA Change: K1086E

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,475,571 (GRCm38)	C612Y	probably benign	Het
Adam21	T	C	12: 81,559,876 (GRCm38)	T371A	probably benign	Het
Akap9	T	C	5: 3,961,279 (GRCm38)	S661P		Het
Anxa11	C	T	14: 25,874,263 (GRCm38)	R233C	probably damaging	Het
Capza3	A	C	6: 140,041,795 (GRCm38)	D40A	probably damaging	Het
Caskin1	C	A	17: 24,499,299 (GRCm38)	N294K	probably damaging	Het
Cdh1	T	C	8: 106,666,272 (GRCm38)	V796A	probably benign	Het
Cped1	A	T	6: 22,119,579 (GRCm38)	T346S	possibly damaging	Het
Crisp4	A	T	1: 18,115,678 (GRCm38)	V278D	probably damaging	Het
Ddx60	A	C	8: 62,021,309 (GRCm38)	D1477A	possibly damaging	Het
Dmrtb1	T	C	4: 107,680,725 (GRCm38)	D82G	possibly damaging	Het
Dnah11	C	T	12: 118,126,815 (GRCm38)	V1104M	probably benign	Het
Dnah11	T	C	12: 118,113,912 (GRCm38)	N1282S	probably benign	Het
Dot1l	A	G	10: 80,785,595 (GRCm38)	E630G	probably damaging	Het
Dppa4	C	A	16: 48,287,936 (GRCm38)	T28K		Het
Dusp5	T	A	19: 53,541,314 (GRCm38)	S383T	probably benign	Het
Eef2k	C	T	7: 120,873,325 (GRCm38)	A87V	probably damaging	Het
Epha1	T	C	6: 42,361,027 (GRCm38)	Y828C	probably damaging	Het
Erbb4	A	C	1: 68,343,838 (GRCm38)		probably null	Het
Fam151b	T	A	13: 92,468,122 (GRCm38)	M120L	probably benign	Het
Fez2	T	C	17: 78,381,622 (GRCm38)	D366G	probably damaging	Het
Frmd4b	G	T	6: 97,295,774 (GRCm38)	H886N	probably benign	Het
Galnt17	T	C	5: 130,877,797 (GRCm38)	H511R	probably benign	Het
Gm17727	T	A	9: 35,778,088 (GRCm38)		probably benign	Het
Gm8773	A	C	5: 5,575,379 (GRCm38)	D25A	possibly damaging	Het
Grpel1	C	A	5: 36,469,472 (GRCm38)	Q33K	possibly damaging	Het
Gzmm	A	C	10: 79,694,985 (GRCm38)		probably null	Het
Hmcn1	C	A	1: 150,649,972 (GRCm38)	L3333F	probably damaging	Het
Il21r	A	T	7: 125,632,326 (GRCm38)	T309S	probably benign	Het
Itgal	G	A	7: 127,330,369 (GRCm38)	V1153M	probably benign	Het
Kdf1	G	A	4: 133,530,343 (GRCm38)	A390T	possibly damaging	Het
Lcn11	G	T	2: 25,779,284 (GRCm38)	R151L	probably benign	Het
Lgi3	T	A	14: 70,532,842 (GRCm38)	Y116N	probably damaging	Het
Llgl2	A	G	11: 115,853,040 (GRCm38)	H731R	probably benign	Het
Lrp5	A	T	19: 3,591,015 (GRCm38)	S1482T	probably damaging	Het
Meis2	T	C	2: 116,058,635 (GRCm38)	D212G	probably benign	Het
Mrgpra9	A	G	7: 47,235,494 (GRCm38)	C142R	possibly damaging	Het
Mrgprf	A	G	7: 145,308,262 (GRCm38)	H187R	probably benign	Het
Mvd	A	G	8: 122,437,825 (GRCm38)		probably null	Het
Neb	T	C	2: 52,206,987 (GRCm38)	I4938M	possibly damaging	Het
Nipal4	A	T	11: 46,151,350 (GRCm38)	M168K	probably benign	Het
Nr1h4	A	G	10: 89,483,489 (GRCm38)	Y158H	probably damaging	Het
Nrxn2	T	C	19: 6,504,890 (GRCm38)	I1133T	probably benign	Het
Numa1	T	C	7: 102,001,477 (GRCm38)	Y1472H	probably benign	Het
Olfr1329	A	G	4: 118,917,374 (GRCm38)	V31A	probably benign	Het
Olfr1380	G	A	11: 49,564,382 (GRCm38)	V154M	probably benign	Het
Olfr411	T	C	11: 74,346,645 (GRCm38)	D313G	probably benign	Het
Olfr530	A	G	7: 140,372,785 (GRCm38)	V275A	probably benign	Het
Olfr652	A	G	7: 104,564,412 (GRCm38)	M64V	possibly damaging	Het
Pcdha6	G	T	18: 36,968,431 (GRCm38)	V226F	probably damaging	Het
Pnpla6	G	A	8: 3,531,489 (GRCm38)	M605I	probably benign	Het
Ppp1r13l	G	A	7: 19,371,269 (GRCm38)	R322H	probably damaging	Het
Sgtb	T	C	13: 104,121,538 (GRCm38)		probably null	Het
Slc4a11	T	C	2: 130,685,537 (GRCm38)	E646G	probably damaging	Het
Speg	G	T	1: 75,401,151 (GRCm38)	R851L	possibly damaging	Het
Spns3	T	G	11: 72,539,086 (GRCm38)	D172A	probably damaging	Het
Srgap3	A	G	6: 112,723,137 (GRCm38)	V984A	probably benign	Het
Syne1	A	T	10: 5,273,639 (GRCm38)	D3080E	probably damaging	Het
Taf5l	T	C	8: 124,003,362 (GRCm38)	H196R	possibly damaging	Het
Tmem229a	G	C	6: 24,955,588 (GRCm38)	R56G	probably damaging	Het
Tmprss6	A	C	15: 78,443,787 (GRCm38)	*582G	probably null	Het
Trip13	C	A	13: 73,929,676 (GRCm38)	R173L	possibly damaging	Het
Trpm7	A	T	2: 126,819,963 (GRCm38)	V1055E	probably damaging	Het
Utrn	A	G	10: 12,547,993 (GRCm38)	I2T	possibly damaging	Het
V1rd19	T	A	7: 24,003,656 (GRCm38)	S182R	possibly damaging	Het
Vmn2r58	C	A	7: 41,837,185 (GRCm38)	G762V	probably benign	Het
Wdr66	C	T	5: 123,324,375 (GRCm38)	P1249L	probably damaging	Het
Zfp874b	T	C	13: 67,474,022 (GRCm38)	K386E	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
R6810:Skint6	UTSW	4	112,948,380 (GRCm38)	splice site	probably null
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
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'- TTCTGGAATCAAGACTCTGTGTC -3'
(R):5'- ACTATCCTCCTGACAGGCTC -3'

Sequencing Primer
(F):5'- ACTCTGTGTCTGTGTTGCC -3'
(R):5'- AGAATGCCACATGCACAG -3'

Posted On

2021-07-15