Mutagenetix > Incidental Mutations

Incidental Mutation 'R7629:Skint5'

589537

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: 0.059) question?

Stock #

R7629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113477891-113999503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113942660 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 104 (Y104C)

Ref Sequence

ENSEMBL: ENSMUSP00000132470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169631] [ENSMUST00000170105] [ENSMUST00000171627]

Predicted Effect

probably damaging
Transcript: ENSMUST00000169631
AA Change: Y104C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: Y104C

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

probably damaging
Transcript: ENSMUST00000170105
AA Change: Y104C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: Y104C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171627
AA Change: Y90C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130639
Gene: ENSMUSG00000078598
AA Change: Y90C

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IGv	44	125	2.48e-8	SMART
Pfam:C2-set_2	147	225	3.1e-6	PFAM
internal_repeat_1	268	354	1.61e-12	PROSPERO
low complexity region	356	368	N/A	INTRINSIC
low complexity region	380	388	N/A	INTRINSIC
low complexity region	401	410	N/A	INTRINSIC
internal_repeat_1	415	501	1.61e-12	PROSPERO
low complexity region	506	515	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	G	A	16: 88,707,405	T168I	probably benign	Het
2410089E03Rik	C	T	15: 8,227,067	Q2004*	probably null	Het
Abtb2	T	A	2: 103,683,493		probably null	Het
Ankrd10	A	T	8: 11,615,769	V277E	probably benign	Het
Ankrd28	C	T	14: 31,715,264	V615I	probably benign	Het
Aqr	G	A	2: 114,114,593	P1079L	probably damaging	Het
Brox	G	A	1: 183,292,504	A60V	probably damaging	Het
Copg1	T	C	6: 87,894,169	V289A	possibly damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
D430042O09Rik	T	C	7: 125,795,250	L192P	probably damaging	Het
Dido1	T	C	2: 180,661,473	N1546S	probably benign	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dmxl1	T	A	18: 49,859,270	I361N	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fhod3	T	A	18: 24,754,317	D88E	probably benign	Het
Flywch1	A	G	17: 23,755,770	M632T	probably benign	Het
Henmt1	A	G	3: 108,958,597	T213A	probably benign	Het
Itga9	T	C	9: 118,698,446	V555A	probably benign	Het
Kif13b	C	T	14: 64,779,335	R1317*	probably null	Het
Kndc1	A	T	7: 139,895,260	E25V	probably damaging	Het
Lingo2	T	A	4: 35,708,675	D435V	possibly damaging	Het
Lrrc14b	T	A	13: 74,361,164	M375L	probably benign	Het
Lrrtm2	T	C	18: 35,214,257		probably null	Het
Mgat4c	G	A	10: 102,389,070	V382I	probably benign	Het
Mpp6	T	C	6: 50,196,623	I489T	probably benign	Het
Muc16	T	C	9: 18,566,785	T7075A	possibly damaging	Het
Myo5b	T	A	18: 74,627,254		probably null	Het
Neb	T	C	2: 52,273,961	D1995G	possibly damaging	Het
Nudt9	T	C	5: 104,050,694	V75A	possibly damaging	Het
Olfr1277	C	T	2: 111,269,876	V164I	probably benign	Het
Paf1	T	C	7: 28,395,068	Y35H	probably damaging	Het
Panx3	T	A	9: 37,661,444	Q270L	possibly damaging	Het
Pde6h	G	T	6: 136,959,319	R20L	possibly damaging	Het
Pdxk	A	G	10: 78,445,006	I200T	probably benign	Het
Ppara	A	T	15: 85,798,191	M363L	probably damaging	Het
Prmt8	A	T	6: 127,689,883	L376*	probably null	Het
Serpina1a	G	C	12: 103,853,808	T393R	probably damaging	Het
Sfxn1	C	T	13: 54,093,022	R178C	probably damaging	Het
Sirpb1c	A	T	3: 15,848,395	W7R	possibly damaging	Het
Slamf6	A	T	1: 171,936,624	T195S	probably damaging	Het
Slc2a6	T	C	2: 27,024,202	D301G	probably benign	Het
Stab2	A	T	10: 86,883,782		probably null	Het
Tctn3	C	G	19: 40,611,336	D141H	probably damaging	Het
Tnik	A	G	3: 28,661,728	N1164D	probably damaging	Het
Tpcn1	C	T	5: 120,537,937	V711I	probably benign	Het
Trim11	G	A	11: 58,978,334	G32D	probably damaging	Het
Usp32	TTTGGTTG	TTTG	11: 85,019,855		probably null	Het
Vmn1r72	T	C	7: 11,669,784	I246V	probably benign	Het
Zfp362	G	T	4: 128,786,055	R273S	probably damaging	Het
Zfp715	T	C	7: 43,301,676	D66G	possibly 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
R5190:Skint5	UTSW	4	113763514	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
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'- GAATCATGGATATACAGCAGTTGC -3'
(R):5'- TCCTCCGCAGAACAATTCACTG -3'

Sequencing Primer
(F):5'- TTGCAGAGGGATCCATGC -3'
(R):5'- CACTGTGAATGGCTTAGAGAGTCC -3'

Posted On

2019-10-24