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: 0.053) question?

Stock #

R1432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112804616-113286973 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 112869524 bp (GRCm38)

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: 71,170,587		probably null	Het
9130401M01Rik	A	T	15: 58,028,860	L117Q	probably damaging	Het
Abcb1b	A	G	5: 8,837,771	K886E	possibly damaging	Het
Acaa2	A	T	18: 74,787,127	I9F	probably damaging	Het
Acap2	A	T	16: 31,111,083	S386T	probably damaging	Het
Acsm2	A	T	7: 119,573,575	I138F	possibly damaging	Het
Agl	T	C	3: 116,746,693	Y1424C	probably damaging	Het
Apc2	T	C	10: 80,312,349	V1079A	probably benign	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Armc8	C	T	9: 99,523,132		probably benign	Het
BC005561	T	C	5: 104,518,104	F164S	probably damaging	Het
Catsperb	A	G	12: 101,622,217	Y953C	probably damaging	Het
Cdk13	G	A	13: 17,718,416	A720V	probably damaging	Het
Chka	T	C	19: 3,874,809		probably benign	Het
Clcc1	T	C	3: 108,668,102	I165T	probably benign	Het
Cndp1	G	A	18: 84,634,652		probably benign	Het
Dip2c	C	A	13: 9,553,304	P297Q	probably damaging	Het
Dnah17	A	T	11: 118,023,327	W4429R	probably damaging	Het
Doxl2	T	A	6: 48,975,654	F171Y	probably damaging	Het
Dram2	T	C	3: 106,570,766	V138A	possibly damaging	Het
Dus4l	T	C	12: 31,648,771	N78S	probably benign	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Ebf1	T	C	11: 45,004,706		probably benign	Het
Epm2a	T	A	10: 11,390,843	Y111N	probably damaging	Het
Gm773	T	C	X: 56,202,017	T52A	probably benign	Het
Gpam	C	A	19: 55,079,261	M483I	probably damaging	Het
Gpr12	T	C	5: 146,583,425	H229R	probably damaging	Het
Gpr149	T	C	3: 62,531,018	T573A	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hells	T	A	19: 38,957,184		probably null	Het
Herc1	T	A	9: 66,465,469	N3102K	probably benign	Het
Herc3	A	T	6: 58,916,842	T968S	possibly damaging	Het
Ift88	A	G	14: 57,437,279	Y69C	probably benign	Het
Incenp	G	A	19: 9,885,526	T388M	unknown	Het
Jrkl	A	G	9: 13,245,332	F108S	probably benign	Het
Khdc1a	A	G	1: 21,350,318	E54G	possibly damaging	Het
Kif6	T	A	17: 49,620,700	F58L	probably damaging	Het
Klk14	T	C	7: 43,694,918	S218P	probably damaging	Het
Kmt2e	T	C	5: 23,450,321	M19T	probably benign	Het
Llgl1	G	T	11: 60,708,554	G454C	probably damaging	Het
Lyrm4	A	G	13: 36,092,915	V33A	probably benign	Het
Mcam	C	T	9: 44,141,291	R606C	probably damaging	Het
Mgam	T	A	6: 40,756,367	M692K	probably damaging	Het
Mkl2	A	G	16: 13,401,002	N504S	probably benign	Het
Mmp28	C	T	11: 83,442,939	R392H	probably damaging	Het
Mpdz	G	A	4: 81,292,551	T1699M	probably damaging	Het
Mrps11	T	C	7: 78,783,562		probably benign	Het
Msmo1	A	G	8: 64,727,616		probably benign	Het
Mst1	A	G	9: 108,084,204	E571G	probably benign	Het
Myh14	T	C	7: 44,616,299	E1585G	probably damaging	Het
Myrfl	A	G	10: 116,777,427	C824R	probably damaging	Het
Ncapd3	C	T	9: 27,069,872		probably benign	Het
Nlrp4a	G	GGTTCTTC	7: 26,464,197		probably null	Het
Nos1	C	T	5: 117,949,619		probably benign	Het
Notch3	T	C	17: 32,164,224	S47G	probably benign	Het
Npsr1	A	G	9: 24,310,075	Y122C	probably damaging	Het
Olfr1335	T	C	4: 118,809,238	M209V	probably benign	Het
Olfr339	C	T	2: 36,421,643	L82F	probably damaging	Het
Olfr420	T	A	1: 174,158,917	V48E	possibly damaging	Het
Olfr76	G	T	19: 12,120,239	R158S	possibly damaging	Het
Olfr786	C	T	10: 129,436,938	T42I	probably damaging	Het
Olfr877	T	A	9: 37,855,252	L145M	possibly damaging	Het
Otog	G	T	7: 46,300,583	V2490F	probably damaging	Het
Pibf1	T	C	14: 99,112,989	V191A	probably benign	Het
Pip	A	G	6: 41,849,918	M66V	probably benign	Het
Plxna2	C	T	1: 194,767,463	R830C	probably benign	Het
Prkca	A	T	11: 107,939,520	V248E	probably benign	Het
Prmt7	T	A	8: 106,237,284	L253*	probably null	Het
Prrc2a	G	T	17: 35,153,912		probably benign	Het
Rasgrf1	A	G	9: 90,012,800	D1091G	probably benign	Het
Rbm7	C	A	9: 48,489,945	G161V	probably benign	Het
Scn1a	A	T	2: 66,322,429	I736N	probably damaging	Het
Slc22a2	C	T	17: 12,584,308	H10Y	possibly damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Stam2	A	G	2: 52,714,809		probably benign	Het
Stk40	T	C	4: 126,136,833	L282P	probably damaging	Het
Tas2r110	A	G	6: 132,868,368	N121D	probably damaging	Het
Tbc1d32	A	G	10: 56,017,662	Y1272H	probably damaging	Het
Tmem131l	T	C	3: 83,928,714	D696G	probably damaging	Het
Trdmt1	T	C	2: 13,519,846	Y266C	probably damaging	Het
Trim5	G	T	7: 104,279,519	H72N	probably benign	Het
Trim5	A	C	7: 104,279,521	L71R	probably benign	Het
Twf2	T	A	9: 106,214,813		probably benign	Het
Ubap2l	T	C	3: 90,019,328	T580A	probably benign	Het
Ugt1a10	C	T	1: 88,216,260	R201C	probably damaging	Het
Unc5a	A	G	13: 55,004,472		probably benign	Het
Vmn2r85	T	C	10: 130,425,286	N394S	possibly damaging	Het
Wrn	A	T	8: 33,319,141		probably benign	Het

Other mutations in Skint6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Skint6	APN	4	112804682	missense	possibly damaging	0.96
IGL01296:Skint6	APN	4	113236440	missense	probably benign	0.37
IGL01343:Skint6	APN	4	113283626	missense	probably benign	0.07
IGL01543:Skint6	APN	4	112899963	missense	probably benign	0.18
IGL01633:Skint6	APN	4	113238049	missense	probably damaging	1.00
IGL01818:Skint6	APN	4	112948569	missense	probably benign	0.18
IGL02124:Skint6	APN	4	113087796	missense	probably benign
IGL02517:Skint6	APN	4	112948540	splice site	probably benign
IGL02647:Skint6	APN	4	113127891	splice site	probably benign
IGL02887:Skint6	APN	4	113238184	nonsense	probably null
IGL03026:Skint6	APN	4	112991244	splice site	probably null
IGL03030:Skint6	APN	4	113012956	missense	probably benign	0.03
meissner	UTSW	4	112804694	missense	possibly damaging	0.86
Tegmentum	UTSW	4	112842822	splice site	probably null
PIT4576001:Skint6	UTSW	4	113053367	missense	possibly damaging	0.91
R0058:Skint6	UTSW	4	113046815	splice site	probably benign
R0058:Skint6	UTSW	4	113046815	splice site	probably benign
R0099:Skint6	UTSW	4	112811501	missense	possibly damaging	0.53
R0158:Skint6	UTSW	4	113184814	splice site	probably benign
R0164:Skint6	UTSW	4	112991236	splice site	probably benign
R0312:Skint6	UTSW	4	112809100	missense	possibly damaging	0.86
R0591:Skint6	UTSW	4	112858169	splice site	probably benign
R0762:Skint6	UTSW	4	112865651	splice site	probably benign
R0941:Skint6	UTSW	4	113238358	missense	probably damaging	1.00
R1023:Skint6	UTSW	4	113238103	missense	probably benign	0.20
R1132:Skint6	UTSW	4	112898099	critical splice donor site	probably null
R1228:Skint6	UTSW	4	112854452	missense	probably benign
R1338:Skint6	UTSW	4	113012961	missense	possibly damaging	0.53
R1512:Skint6	UTSW	4	113238132	missense	probably damaging	1.00
R1577:Skint6	UTSW	4	113148523	missense	possibly damaging	0.53
R1733:Skint6	UTSW	4	113177037	splice site	probably benign
R1762:Skint6	UTSW	4	113236481	missense	probably damaging	0.98
R1891:Skint6	UTSW	4	112846696	missense	possibly damaging	0.85
R1908:Skint6	UTSW	4	112891990	missense	probably benign
R2069:Skint6	UTSW	4	113238132	missense	probably damaging	1.00
R2089:Skint6	UTSW	4	112846684	missense	probably benign
R2091:Skint6	UTSW	4	112846684	missense	probably benign
R2091:Skint6	UTSW	4	112846684	missense	probably benign
R2144:Skint6	UTSW	4	113236260	missense	possibly damaging	0.84
R2166:Skint6	UTSW	4	112854452	missense	probably benign	0.01
R2192:Skint6	UTSW	4	112865712	nonsense	probably null
R2267:Skint6	UTSW	4	112842822	splice site	probably null
R2312:Skint6	UTSW	4	113238142	missense	probably damaging	1.00
R2324:Skint6	UTSW	4	112872457	splice site	probably null
R2342:Skint6	UTSW	4	113176983	missense	probably benign	0.00
R3028:Skint6	UTSW	4	113236493	missense	possibly damaging	0.92
R3704:Skint6	UTSW	4	113136472	missense	possibly damaging	0.86
R3752:Skint6	UTSW	4	112842899	splice site	probably benign
R3760:Skint6	UTSW	4	112937458	missense	possibly damaging	0.53
R3827:Skint6	UTSW	4	112937437	missense	probably benign
R4377:Skint6	UTSW	4	113236518	missense	possibly damaging	0.90
R4406:Skint6	UTSW	4	113156486	missense	probably benign	0.01
R4611:Skint6	UTSW	4	113074076	missense	probably benign
R4780:Skint6	UTSW	4	113236397	missense	probably damaging	0.98
R4788:Skint6	UTSW	4	113238336	missense	possibly damaging	0.54
R4818:Skint6	UTSW	4	112955392	intron	probably benign
R4900:Skint6	UTSW	4	113067470	missense	probably benign	0.03
R4972:Skint6	UTSW	4	112835068	missense	probably benign
R5008:Skint6	UTSW	4	112991255	missense	possibly damaging	0.86
R5016:Skint6	UTSW	4	113171533	critical splice acceptor site	probably null
R5085:Skint6	UTSW	4	113236268	missense	probably damaging	0.99
R5165:Skint6	UTSW	4	112865668	missense	possibly damaging	0.86
R5221:Skint6	UTSW	4	112894924	splice site	probably null
R5310:Skint6	UTSW	4	113184768	nonsense	probably null
R5423:Skint6	UTSW	4	112850740	missense	possibly damaging	0.93
R5436:Skint6	UTSW	4	113096591	missense	probably benign	0.08
R5447:Skint6	UTSW	4	113105909	missense	probably benign	0.34
R5564:Skint6	UTSW	4	112988965	missense	possibly damaging	0.72
R5629:Skint6	UTSW	4	113012979	missense	possibly damaging	0.86
R5936:Skint6	UTSW	4	113096593	missense	probably benign	0.33
R5993:Skint6	UTSW	4	112809079	missense	probably benign	0.02
R6027:Skint6	UTSW	4	113096564	splice site	probably null
R6174:Skint6	UTSW	4	112839313	missense	possibly damaging	0.53
R6497:Skint6	UTSW	4	113236398	missense	probably damaging	0.98
R6552:Skint6	UTSW	4	113067490	missense	possibly damaging	0.86
R6645:Skint6	UTSW	4	112892038	missense	possibly damaging	0.53
R6810:Skint6	UTSW	4	112948380	splice site	probably null
R7003:Skint6	UTSW	4	113105912	missense	probably benign	0.01
R7211:Skint6	UTSW	4	113238369	missense	probably benign	0.09
R7269:Skint6	UTSW	4	112854489	splice site	probably null
R7398:Skint6	UTSW	4	112898138	missense	probably benign	0.00
R7438:Skint6	UTSW	4	113238228	missense	probably damaging	1.00
R7461:Skint6	UTSW	4	113177046	splice site	probably null
R7536:Skint6	UTSW	4	112811547	critical splice acceptor site	probably null
R7613:Skint6	UTSW	4	113177046	splice site	probably null
R7956:Skint6	UTSW	4	112846697	missense	possibly damaging	0.85
R8118:Skint6	UTSW	4	112865675	missense	possibly damaging	0.53
R8118:Skint6	UTSW	4	113156494	missense	possibly damaging	0.73
R8197:Skint6	UTSW	4	112894843	splice site	probably null
R8218:Skint6	UTSW	4	112839274	splice site	probably null
R8344:Skint6	UTSW	4	113236445	missense	probably damaging	1.00
R8518:Skint6	UTSW	4	113238268	missense	possibly damaging	0.58
R8776:Skint6	UTSW	4	112804688	missense	possibly damaging	0.96
R8776-TAIL:Skint6	UTSW	4	112804688	missense	possibly damaging	0.96
R8794:Skint6	UTSW	4	113192672	missense	possibly damaging	0.73
R8796:Skint6	UTSW	4	112804694	missense	possibly damaging	0.86
R8812:Skint6	UTSW	4	112988952	missense	probably benign	0.00
R8866:Skint6	UTSW	4	112854453	missense	probably benign
R8881:Skint6	UTSW	4	112815519	missense	possibly damaging	0.53
R8949:Skint6	UTSW	4	113074099	missense	probably benign	0.04
R8967:Skint6	UTSW	4	112872504	nonsense	probably null
R9005:Skint6	UTSW	4	113238150	missense	probably damaging	1.00
R9007:Skint6	UTSW	4	113238150	missense	probably damaging	1.00
R9053:Skint6	UTSW	4	113238150	missense	probably damaging	1.00
R9055:Skint6	UTSW	4	113238150	missense	probably damaging	1.00
R9144:Skint6	UTSW	4	113127905	missense	possibly damaging	0.73
R9149:Skint6	UTSW	4	113176976	missense	probably damaging	0.98
R9297:Skint6	UTSW	4	112811520	missense	probably benign	0.00
R9388:Skint6	UTSW	4	113192641	missense	possibly damaging	0.85
R9407:Skint6	UTSW	4	113177027	missense	possibly damaging	0.53
R9475:Skint6	UTSW	4	112806840	critical splice donor site	probably null
R9515:Skint6	UTSW	4	112858178	missense	probably benign
R9572:Skint6	UTSW	4	113127931	missense	probably benign
R9689:Skint6	UTSW	4	113236349	missense	probably damaging	0.99
R9744:Skint6	UTSW	4	112809163	missense	probably damaging	1.00
R9785:Skint6	UTSW	4	112883687	missense	possibly damaging	0.86
Z1176:Skint6	UTSW	4	112892014	missense	possibly damaging	0.53
Z1176:Skint6	UTSW	4	113238294	missense	probably damaging	0.96
Z1176:Skint6	UTSW	4	113238295	missense	possibly damaging	0.83
Z1177:Skint6	UTSW	4	112806928	missense	possibly damaging	0.96
Z1177:Skint6	UTSW	4	113105961	critical splice acceptor site	probably null

Predicted Primers

Posted On

2014-03-14