Mutagenetix > Incidental Mutation

Incidental Mutation 'R8794:Skint6'

671095

Institutional Source

Beutler Lab

Gene Symbol

Skint6

Ensembl Gene

ENSMUSG00000087194

Gene Name

selection and upkeep of intraepithelial T cells 6

Synonyms

OTTMUSG00000008519

MMRRC Submission

068723-MU

Accession Numbers

Essential gene?

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

Stock #

R8794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112661813-113144170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113049869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 265 (S265R)

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: S265R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121870
Gene: ENSMUSG00000087194
AA Change: S265R

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: S265R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132312
Gene: ENSMUSG00000087194
AA Change: S265R

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

Validation Efficiency

100% (86/86)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,939 (GRCm39)	V498D	unknown	Het
Actn1	C	T	12: 80,245,754 (GRCm39)		probably benign	Het
Actrt2	T	C	4: 154,751,176 (GRCm39)	E320G	probably damaging	Het
Adamts7	C	T	9: 90,076,239 (GRCm39)	Q1265*	probably null	Het
Adra1a	A	G	14: 66,875,064 (GRCm39)	N13S	probably benign	Het
Alpk3	G	T	7: 80,707,403 (GRCm39)	R9L	unknown	Het
Ankrd42	A	G	7: 92,263,674 (GRCm39)	F225L	probably benign	Het
C3	T	C	17: 57,528,011 (GRCm39)	E736G	probably benign	Het
Ccng1	A	G	11: 40,644,826 (GRCm39)	S24P	probably benign	Het
Cdc42bpa	A	T	1: 179,894,816 (GRCm39)	N332I	probably damaging	Het
Cep131	G	A	11: 119,972,074 (GRCm39)	P90S	probably benign	Het
Chd8	A	G	14: 52,441,904 (GRCm39)	S2154P	probably damaging	Het
Cilp	A	G	9: 65,186,535 (GRCm39)	S877G	probably benign	Het
Clic6	T	A	16: 92,324,987 (GRCm39)	S382T	possibly damaging	Het
Coq8a	G	T	1: 180,006,773 (GRCm39)	P85Q	probably benign	Het
Creb3l4	A	G	3: 90,145,225 (GRCm39)	I309T	probably benign	Het
Cux2	T	C	5: 122,007,306 (GRCm39)	E785G	probably benign	Het
Cyfip2	A	G	11: 46,144,800 (GRCm39)	F685L	possibly damaging	Het
Epha6	T	C	16: 60,026,035 (GRCm39)	D469G	probably benign	Het
Erc1	A	T	6: 119,607,616 (GRCm39)	V962E	probably damaging	Het
Esrrb	A	T	12: 86,517,038 (GRCm39)	S57C	probably damaging	Het
Fam169a	A	G	13: 97,250,628 (GRCm39)	T320A	possibly damaging	Het
Farsb	C	T	1: 78,401,678 (GRCm39)		probably benign	Het
Frem3	T	C	8: 81,338,907 (GRCm39)	V400A	probably damaging	Het
Frem3	A	T	8: 81,342,851 (GRCm39)	M1715L	probably benign	Het
Frmpd1	A	G	4: 45,279,632 (GRCm39)	T786A	probably benign	Het
Gapvd1	A	T	2: 34,594,330 (GRCm39)	S886T	possibly damaging	Het
Gba2	A	G	4: 43,568,077 (GRCm39)	S737P	probably damaging	Het
Gm525	A	G	11: 88,979,479 (GRCm39)	N85S	probably damaging	Het
Gnpda1	T	A	18: 38,465,091 (GRCm39)	D175V	probably benign	Het
Heatr5b	T	C	17: 79,123,015 (GRCm39)	I655V	probably benign	Het
Hmcn1	G	A	1: 150,591,469 (GRCm39)	T1910I	probably benign	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Ier2	A	T	8: 85,389,096 (GRCm39)	D95E	probably damaging	Het
Ifi208	A	G	1: 173,523,370 (GRCm39)	R547G	possibly damaging	Het
Itih3	T	A	14: 30,634,854 (GRCm39)	S639C	possibly damaging	Het
Kif19b	A	G	5: 140,461,785 (GRCm39)	E529G	probably damaging	Het
Marchf7	G	A	2: 60,074,015 (GRCm39)		probably null	Het
Mep1b	A	C	18: 21,224,325 (GRCm39)	T373P	probably damaging	Het
Mlh3	G	A	12: 85,282,497 (GRCm39)	P1379S	probably damaging	Het
Nav3	T	A	10: 109,605,032 (GRCm39)	K1014*	probably null	Het
Nme1	A	T	11: 93,851,658 (GRCm39)	F78I	probably benign	Het
Nos3	T	A	5: 24,576,745 (GRCm39)	V458D	probably damaging	Het
Noxa1	A	G	2: 24,984,852 (GRCm39)	F29L	probably benign	Het
Nrcam	G	A	12: 44,624,958 (GRCm39)	G1055D	probably benign	Het
Nutf2	A	T	8: 106,602,171 (GRCm39)		probably benign	Het
Oog3	A	G	4: 143,884,556 (GRCm39)	I460T	probably benign	Het
Or4b1b	A	T	2: 90,112,150 (GRCm39)	Y256*	probably null	Het
Or4c113	T	C	2: 88,885,477 (GRCm39)	M98V	probably benign	Het
Or5p78	A	T	7: 108,211,580 (GRCm39)	D22V	probably benign	Het
Or7e175	A	T	9: 20,048,630 (GRCm39)	M73L	possibly damaging	Het
Pde2a	A	T	7: 101,155,136 (GRCm39)	Y559F	possibly damaging	Het
Pde6d	G	A	1: 86,475,209 (GRCm39)	Q61*	probably null	Het
Pdpr	A	G	8: 111,852,240 (GRCm39)	T536A	possibly damaging	Het
Pias4	T	A	10: 80,999,846 (GRCm39)	K69M	probably damaging	Het
Pigo	A	T	4: 43,023,787 (GRCm39)	D188E	possibly damaging	Het
Pik3r2	A	G	8: 71,224,007 (GRCm39)	V270A	probably benign	Het
Plod2	T	A	9: 92,482,801 (GRCm39)	W456R	probably damaging	Het
Pmpcb	T	C	5: 21,961,832 (GRCm39)	V450A	probably benign	Het
Poln	G	A	5: 34,286,871 (GRCm39)	T99I	possibly damaging	Het
Prg2	A	G	2: 84,812,404 (GRCm39)	D38G	possibly damaging	Het
Psmd7	A	C	8: 108,310,831 (GRCm39)	Y138D	probably damaging	Het
Ptprk	T	A	10: 28,139,504 (GRCm39)	Y76*	probably null	Het
Ranbp2	T	A	10: 58,328,414 (GRCm39)	V2810E	probably damaging	Het
Rgma	A	T	7: 73,067,648 (GRCm39)	H411L	probably damaging	Het
Sapcd1	T	C	17: 35,246,814 (GRCm39)	T25A	probably damaging	Het
Serpinb6e	T	C	13: 34,024,977 (GRCm39)	I105V	possibly damaging	Het
Serpinb9f	A	T	13: 33,513,396 (GRCm39)	T158S	probably benign	Het
Sirpb1b	T	A	3: 15,613,843 (GRCm39)	T80S	probably benign	Het
Slc23a2	A	T	2: 131,902,629 (GRCm39)	F524L	probably benign	Het
Slc2a13	C	A	15: 91,234,302 (GRCm39)	G345C	probably damaging	Het
Sp110	A	G	1: 85,511,231 (GRCm39)		probably null	Het
Srcin1	A	G	11: 97,439,803 (GRCm39)	V109A	probably benign	Het
Tfcp2l1	A	G	1: 118,560,118 (GRCm39)	N70S	probably damaging	Het
Tmem30c	T	A	16: 57,090,553 (GRCm39)	H218L	probably benign	Het
Tmprss11d	G	A	5: 86,486,680 (GRCm39)	T70I	probably damaging	Het
Tnpo2	A	T	8: 85,765,114 (GRCm39)	Q32L	probably benign	Het
Trav16n	A	C	14: 53,588,867 (GRCm39)	T48P	probably damaging	Het
Ufc1	A	G	1: 171,117,095 (GRCm39)	Y110H	probably damaging	Het
Wars2	A	G	3: 99,123,888 (GRCm39)	K250E	probably damaging	Het
Wdfy4	G	T	14: 32,869,049 (GRCm39)	N326K	probably benign	Het
Xirp2	A	T	2: 67,341,557 (GRCm39)	E1266V	probably damaging	Het
Zfp423	A	C	8: 88,507,857 (GRCm39)	L829R	probably damaging	Het
Zfp735	A	G	11: 73,603,029 (GRCm39)	K658E	possibly damaging	Het
Zscan12	T	A	13: 21,547,847 (GRCm39)	C10S	possibly damaging	Het
Zswim3	T	A	2: 164,662,687 (GRCm39)	M389K	probably 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
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
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'- TGAGAAATCAAGGTTTCATAAGCTCAT -3'
(R):5'- AAGCACTGCCATTGGGACA -3'

Sequencing Primer
(F):5'- TGACTGTTGATCAAGAAAAGCTG -3'
(R):5'- GGACCTAGCTGAAGGACTCAC -3'

Posted On

2021-04-30