Mutagenetix > Incidental Mutations

Incidental Mutation 'R5190:Skint5'

398038

Institutional Source

Beutler Lab

Gene Symbol

Skint5

Ensembl Gene

ENSMUSG00000078598

Gene Name

selection and upkeep of intraepithelial T cells 5

Synonyms

OTTMUSG00000008560

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5190 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113477891-113999503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113763514 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 668 (I668V)

Ref Sequence

ENSEMBL: ENSMUSP00000129582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169631] [ENSMUST00000170105]

Predicted Effect

unknown
Transcript: ENSMUST00000169631
AA Change: I668V

SMART Domains

Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: I668V

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
IGv	58	139	2.48e-8	SMART
Blast:IG_like	173	249	2e-16	BLAST
internal_repeat_2	282	614	9.14e-29	PROSPERO
internal_repeat_1	284	770	2.19e-39	PROSPERO
low complexity region	772	781	N/A	INTRINSIC
internal_repeat_1	808	1294	2.19e-39	PROSPERO
internal_repeat_2	995	1306	9.14e-29	PROSPERO
transmembrane domain	1322	1341	N/A	INTRINSIC
transmembrane domain	1361	1383	N/A	INTRINSIC
transmembrane domain	1398	1420	N/A	INTRINSIC
transmembrane domain	1441	1463	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000170105
AA Change: I668V

SMART Domains

Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: I668V

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
IGv	58	139	2.48e-8	SMART
Pfam:C2-set_2	162	238	3.9e-6	PFAM
internal_repeat_3	276	364	2.13e-10	PROSPERO
internal_repeat_2	282	593	3.81e-24	PROSPERO
internal_repeat_1	284	749	6.25e-39	PROSPERO
low complexity region	751	760	N/A	INTRINSIC
low complexity region	772	781	N/A	INTRINSIC
internal_repeat_1	808	1273	6.25e-39	PROSPERO
internal_repeat_2	995	1285	3.81e-24	PROSPERO
internal_repeat_3	1196	1287	2.13e-10	PROSPERO
transmembrane domain	1301	1320	N/A	INTRINSIC
transmembrane domain	1340	1362	N/A	INTRINSIC
transmembrane domain	1377	1399	N/A	INTRINSIC
transmembrane domain	1420	1442	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
Abca7	T	C	10: 79,999,593		probably null	Het
Abca8a	C	T	11: 110,089,909		probably null	Het
Ablim3	A	G	18: 61,819,911	Y361H	probably benign	Het
Acan	C	T	7: 79,098,541	T1020I	probably benign	Het
Baat	A	G	4: 49,499,652	L218P	probably damaging	Het
Bcl11b	C	A	12: 107,989,716	C58F	probably damaging	Het
Cand2	G	T	6: 115,789,513	A360S	probably damaging	Het
Cdh2	A	G	18: 16,650,315	V62A	possibly damaging	Het
Cep44	C	T	8: 56,532,796	V354I	probably benign	Het
Col3a1	G	A	1: 45,329,084	R309Q	unknown	Het
Col3a1	G	A	1: 45,344,807		probably benign	Het
Coq5	A	G	5: 115,295,780		probably null	Het
Crtac1	A	G	19: 42,333,908	I131T	possibly damaging	Het
Decr1	C	T	4: 15,924,270	V217M	probably damaging	Het
Dnajc13	A	G	9: 104,174,525	V1706A	probably benign	Het
Dopey1	A	G	9: 86,487,304	I63M	probably damaging	Het
F830045P16Rik	T	C	2: 129,472,715	D214G	probably benign	Het
Fam216a	T	A	5: 122,367,521		probably null	Het
Fdxacb1	A	C	9: 50,772,087	H248P	possibly damaging	Het
Gnai1	A	T	5: 18,291,598	V109E	probably benign	Het
Helz2	A	T	2: 181,230,757		probably null	Het
Itgam	T	C	7: 128,116,317		probably null	Het
Kcnh1	A	G	1: 192,505,528	S766G	probably benign	Het
Klra1	C	A	6: 130,375,278	C167F	probably damaging	Het
Krtap9-3	T	A	11: 99,597,982	T25S	probably benign	Het
Mapk6	T	C	9: 75,388,344	Y624C	probably damaging	Het
Olfr1123	A	G	2: 87,418,843	Y263C	probably damaging	Het
Olfr1158	T	A	2: 87,990,763	Y217*	probably null	Het
Olfr1393	T	C	11: 49,280,382	V78A	probably damaging	Het
Olfr51	T	G	11: 51,007,554	I194S	probably damaging	Het
Olfr677	C	T	7: 105,056,453	S69L	probably damaging	Het
P3h2	A	G	16: 25,984,949	S356P	possibly damaging	Het
Pde12	C	T	14: 26,666,377		probably null	Het
Rln3	T	G	8: 84,043,237	K94N	probably damaging	Het
Slitrk5	C	A	14: 111,679,420	Q159K	probably damaging	Het
Trim3	G	T	7: 105,619,509	N79K	probably damaging	Het
Tyw1	T	A	5: 130,267,915	C101*	probably null	Het
Ulk2	T	C	11: 61,781,711	T934A	probably benign	Het
Unc5b	T	C	10: 60,772,293	Y687C	probably benign	Het
Vmn1r195	C	T	13: 22,278,386	R9*	probably null	Het
Zfc3h1	T	G	10: 115,418,692	L1397R	probably damaging	Het
Zfp296	T	C	7: 19,577,407	V9A	probably benign	Het
Zfp423	T	A	8: 87,782,463	S397C	probably damaging	Het

Other mutations in Skint5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Skint5	APN	4	113542873	critical splice donor site	probably null
IGL01288:Skint5	APN	4	113524135	intron	probably benign
IGL01313:Skint5	APN	4	113805164	missense	unknown
IGL01446:Skint5	APN	4	113942822	missense	probably damaging	1.00
IGL01861:Skint5	APN	4	113559824	splice site	probably benign
IGL01955:Skint5	APN	4	113623736	critical splice donor site	probably null
IGL02150:Skint5	APN	4	113885791	missense	unknown
IGL02190:Skint5	APN	4	113940765	missense	possibly damaging	0.93
IGL02271:Skint5	APN	4	113937581	splice site	probably null
IGL02426:Skint5	APN	4	113940784	missense	probably benign	0.08
IGL02484:Skint5	APN	4	113942553	nonsense	probably null
IGL02548:Skint5	APN	4	113731076	missense	unknown
IGL02556:Skint5	APN	4	113940735	missense	probably damaging	0.99
IGL02674:Skint5	APN	4	113630385	splice site	probably benign
IGL02697:Skint5	APN	4	113479713	missense	probably benign	0.23
IGL02710:Skint5	APN	4	113477959	missense	unknown
IGL02721:Skint5	APN	4	113942549	missense	probably damaging	0.96
IGL02750:Skint5	APN	4	113539362	missense	unknown
IGL03121:Skint5	APN	4	113717087	missense	unknown
IGL03167:Skint5	APN	4	113893850	missense	unknown
IGL03247:Skint5	APN	4	113940808	missense	probably damaging	1.00
IGL03264:Skint5	APN	4	113486657	missense	unknown
IGL03281:Skint5	APN	4	113667218	missense	unknown
IGL03353:Skint5	APN	4	113742182	missense	unknown
IGL03377:Skint5	APN	4	113763538	missense	unknown
PIT4377001:Skint5	UTSW	4	113597703	missense	unknown
R0006:Skint5	UTSW	4	113893862	splice site	probably benign
R0026:Skint5	UTSW	4	113546468	splice site	probably benign
R0096:Skint5	UTSW	4	113597768	splice site	probably benign
R0096:Skint5	UTSW	4	113597768	splice site	probably benign
R0277:Skint5	UTSW	4	113937621	missense	probably benign	0.04
R0323:Skint5	UTSW	4	113937621	missense	probably benign	0.04
R0369:Skint5	UTSW	4	113512023	critical splice donor site	probably null
R0375:Skint5	UTSW	4	113705596	missense	unknown
R0464:Skint5	UTSW	4	113535731	missense	unknown
R0479:Skint5	UTSW	4	113655672	missense	unknown
R0507:Skint5	UTSW	4	113567930	splice site	probably null
R0533:Skint5	UTSW	4	113827867	missense	unknown
R0628:Skint5	UTSW	4	113731069	nonsense	probably null
R0645:Skint5	UTSW	4	113763482	missense	unknown
R1201:Skint5	UTSW	4	113556145	missense	unknown
R1240:Skint5	UTSW	4	113717107	missense	unknown
R1270:Skint5	UTSW	4	113942659	nonsense	probably null
R1390:Skint5	UTSW	4	113655684	missense	unknown
R1398:Skint5	UTSW	4	113779071	missense	unknown
R1438:Skint5	UTSW	4	113556111	splice site	probably benign
R1591:Skint5	UTSW	4	113999454	critical splice donor site	probably null
R1631:Skint5	UTSW	4	113483926	missense	probably benign	0.23
R1653:Skint5	UTSW	4	113490678	missense	unknown
R1722:Skint5	UTSW	4	113846311	splice site	probably null
R1735:Skint5	UTSW	4	113563459	missense	unknown
R1765:Skint5	UTSW	4	113577661	missense	unknown
R2054:Skint5	UTSW	4	113819163	critical splice donor site	probably null
R2058:Skint5	UTSW	4	113870700	missense	possibly damaging	0.53
R2197:Skint5	UTSW	4	113940849	missense	probably damaging	1.00
R2239:Skint5	UTSW	4	113546536	missense	unknown
R2380:Skint5	UTSW	4	113546536	missense	unknown
R2406:Skint5	UTSW	4	113942667	missense	probably damaging	0.97
R2512:Skint5	UTSW	4	113630419	missense	unknown
R2913:Skint5	UTSW	4	113524092	intron	probably benign
R3522:Skint5	UTSW	4	113756905	critical splice donor site	probably null
R3779:Skint5	UTSW	4	113779040	splice site	probably benign
R3815:Skint5	UTSW	4	113629122	splice site	probably benign
R3815:Skint5	UTSW	4	113846299	missense	possibly damaging	0.86
R3816:Skint5	UTSW	4	113629122	splice site	probably benign
R3817:Skint5	UTSW	4	113629122	splice site	probably benign
R3818:Skint5	UTSW	4	113629122	splice site	probably benign
R3837:Skint5	UTSW	4	113940741	missense	probably damaging	1.00
R3943:Skint5	UTSW	4	113942753	missense	probably damaging	1.00
R3944:Skint5	UTSW	4	113942753	missense	probably damaging	1.00
R4037:Skint5	UTSW	4	113885814	missense	unknown
R4038:Skint5	UTSW	4	113885814	missense	unknown
R4039:Skint5	UTSW	4	113885814	missense	unknown
R4280:Skint5	UTSW	4	113942552	missense	probably damaging	1.00
R4308:Skint5	UTSW	4	113483967	missense	unknown
R4386:Skint5	UTSW	4	113483893	missense	probably benign	0.23
R4513:Skint5	UTSW	4	113742185	missense	unknown
R4575:Skint5	UTSW	4	113667193	missense	unknown
R4631:Skint5	UTSW	4	113629117	critical splice acceptor site	probably null
R4722:Skint5	UTSW	4	113893855	missense	unknown
R4854:Skint5	UTSW	4	113580528	missense	unknown
R5010:Skint5	UTSW	4	113546537	missense	unknown
R5070:Skint5	UTSW	4	113795538	missense	unknown
R5158:Skint5	UTSW	4	113742212	missense	unknown
R5163:Skint5	UTSW	4	113795565	missense	unknown
R5232:Skint5	UTSW	4	113577644	missense	unknown
R5257:Skint5	UTSW	4	113577662	missense	unknown
R5499:Skint5	UTSW	4	113942503	critical splice donor site	probably null
R5569:Skint5	UTSW	4	113688706	critical splice acceptor site	probably null
R5776:Skint5	UTSW	4	113763503	missense	unknown
R5986:Skint5	UTSW	4	113995648	missense	probably benign	0.11
R5987:Skint5	UTSW	4	113885808	missense	unknown
R5995:Skint5	UTSW	4	113893832	missense	unknown
R6063:Skint5	UTSW	4	113490645	missense	probably benign	0.23
R6074:Skint5	UTSW	4	113805200	missense	unknown
R6111:Skint5	UTSW	4	113705648	missense	unknown
R6173:Skint5	UTSW	4	113535710	missense	unknown
R6238:Skint5	UTSW	4	113942867	splice site	probably null
R6248:Skint5	UTSW	4	113779089	missense	unknown
R6318:Skint5	UTSW	4	113517133	missense	unknown
R6370:Skint5	UTSW	4	113614110	missense	unknown
R6404:Skint5	UTSW	4	113942609	missense	probably damaging	0.97
R6499:Skint5	UTSW	4	113539355	missense	unknown
R6646:Skint5	UTSW	4	113940777	missense	possibly damaging	0.94
R6737:Skint5	UTSW	4	113535739	missense	unknown
R6795:Skint5	UTSW	4	113667223	missense	unknown
R6815:Skint5	UTSW	4	113717127	critical splice acceptor site	probably null
R6935:Skint5	UTSW	4	113942596	missense	possibly damaging	0.56
R7028:Skint5	UTSW	4	113940839	missense	probably damaging	1.00
R7043:Skint5	UTSW	4	113717107	missense	unknown
R7071:Skint5	UTSW	4	113779080	missense	unknown
R7142:Skint5	UTSW	4	113571594	missense	unknown
R7197:Skint5	UTSW	4	113580482	critical splice donor site	probably null
R7208:Skint5	UTSW	4	113539339	missense	unknown
R7297:Skint5	UTSW	4	113542934	missense	unknown
R7470:Skint5	UTSW	4	113756931	missense	unknown
R7470:Skint5	UTSW	4	113885803	missense	unknown
R7500:Skint5	UTSW	4	113559838	missense	unknown
R7547:Skint5	UTSW	4	113626588	missense	unknown
R7556:Skint5	UTSW	4	113567965	missense	unknown
R7619:Skint5	UTSW	4	113524108	missense	unknown
R7629:Skint5	UTSW	4	113942660	missense	probably damaging	1.00
R7646:Skint5	UTSW	4	113763542	critical splice acceptor site	probably null
R7725:Skint5	UTSW	4	113827902	missense	unknown
R7788:Skint5	UTSW	4	113546518	missense	unknown
R7818:Skint5	UTSW	4	113942726	missense	possibly damaging	0.56
R7819:Skint5	UTSW	4	113559835	missense	unknown
R7958:Skint5	UTSW	4	113623783	missense	unknown
R8150:Skint5	UTSW	4	113940890	missense	probably benign	0.21
R8214:Skint5	UTSW	4	113804942	splice site	probably null
R8413:Skint5	UTSW	4	113715703	missense	unknown
R8420:Skint5	UTSW	4	113580482	critical splice donor site	probably null
R8459:Skint5	UTSW	4	113846284	nonsense	probably null
X0028:Skint5	UTSW	4	113691109	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCTAGAGCAGATATTCATTGCAGC -3'
(R):5'- AAAGTCAGAGCCCAGCATTTC -3'

Sequencing Primer
(F):5'- GCAGATATTCATTGCAGCTAGGG -3'
(R):5'- TCCTGCTGAGATAGAAGAAATCCTGC -3'

Posted On

2016-07-06