Mutagenetix > Incidental Mutation

Incidental Mutation 'R5010:Skint5'

448961

Institutional Source

Beutler Lab

Gene Symbol

Skint5

Ensembl Gene

ENSMUSG00000078598

Gene Name

selection and upkeep of intraepithelial T cells 5

Synonyms

OTTMUSG00000008560

MMRRC Submission

042601-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5010 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113477891-113999503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113546537 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1163 (T1163A)

Ref Sequence

ENSEMBL: ENSMUSP00000129582 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000169631
AA Change: T1163A

SMART Domains

Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: T1163A

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: T1163A

SMART Domains

Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: T1163A

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	T	11: 58,422,804	A86V	possibly damaging	Het
9430097D07Rik	A	G	2: 32,574,428		probably benign	Het
Actr5	T	A	2: 158,635,363	D411E	probably benign	Het
Ang5	A	G	14: 43,962,845	D122G	probably benign	Het
Atg9a	A	T	1: 75,186,060		probably null	Het
C530008M17Rik	G	C	5: 76,657,834		probably benign	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Ddx11	G	A	17: 66,147,722	V642M	possibly damaging	Het
Dis3l2	G	A	1: 86,760,321	V100I	probably benign	Het
Echdc2	T	C	4: 108,172,131	V111A	probably benign	Het
Egr1	A	G	18: 34,863,658	T498A	probably benign	Het
Exosc3	T	C	4: 45,317,702	K200R	possibly damaging	Het
Exosc8	T	C	3: 54,729,223	D229G	probably benign	Het
Ext1	T	A	15: 53,092,412	I430F	probably damaging	Het
Fbxw22	T	C	9: 109,403,424	N31S	probably benign	Het
Gja8	T	C	3: 96,919,849	T166A	probably benign	Het
Gm21814	T	A	6: 149,583,618		noncoding transcript	Het
Gm21915	T	A	9: 40,670,648	H12Q	probably benign	Het
Gm597	A	G	1: 28,777,862	I363T	possibly damaging	Het
Hgsnat	G	A	8: 25,947,960	R527*	probably null	Het
Iqgap2	A	G	13: 95,673,743	F731S	probably benign	Het
Jchain	T	C	5: 88,522,505	H85R	probably damaging	Het
Kcnb2	T	C	1: 15,312,962	C171R	probably benign	Het
Kcnk3	C	A	5: 30,622,805	R400S	possibly damaging	Het
Klhl28	C	T	12: 64,957,227	E171K	probably damaging	Het
Lrrfip2	T	C	9: 111,223,972	I375T	possibly damaging	Het
Mccc1	T	C	3: 35,979,017	N326S	probably benign	Het
Med13l	T	C	5: 118,593,550	V97A	possibly damaging	Het
Mertk	C	A	2: 128,784,000	T685K	probably benign	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Myom2	G	A	8: 15,083,310	V401M	probably damaging	Het
Nme5	A	C	18: 34,578,685	M1R	probably null	Het
Nop2	T	C	6: 125,133,763	S68P	probably benign	Het
Notch1	A	T	2: 26,476,114	D809E	possibly damaging	Het
Olfr292	T	C	7: 86,694,585	I43T	possibly damaging	Het
Ppat	C	T	5: 76,928,678		probably benign	Het
Prss23	T	A	7: 89,510,214	M216L	probably benign	Het
Psg18	A	T	7: 18,349,354	V171D	probably damaging	Het
Psg28	A	G	7: 18,427,891	V229A	probably damaging	Het
Qser1	T	C	2: 104,787,831	N879D	possibly damaging	Het
Rpap1	T	C	2: 119,770,041	N879S	probably benign	Het
Rusc2	T	C	4: 43,415,926	S411P	probably damaging	Het
Rxfp2	T	A	5: 150,067,360	W519R	probably damaging	Het
Scpep1	T	A	11: 88,941,349	Q185L	probably benign	Het
Serpinb11	A	G	1: 107,379,649	N270S	probably benign	Het
Serpinb6d	T	A	13: 33,671,444	M367K	probably benign	Het
Skint10	T	G	4: 112,727,672	I213L	probably benign	Het
Slamf9	A	T	1: 172,476,213	I42L	possibly damaging	Het
Slc1a3	T	C	15: 8,650,846		probably benign	Het
Smad6	T	A	9: 63,953,900	Q371L	possibly damaging	Het
Snx31	A	T	15: 36,555,324	V26E	probably damaging	Het
Taf4b	A	G	18: 14,822,172	N594S	possibly damaging	Het
Tanc2	T	C	11: 105,780,092	S172P	probably damaging	Het
Tas2r110	T	A	6: 132,868,475	Y156*	probably null	Het
Tbc1d20	G	A	2: 152,293,936		probably benign	Het
Timm50	A	T	7: 28,306,859	D272E	probably benign	Het
Ttn	T	G	2: 76,900,511		probably benign	Het
Vps13c	T	A	9: 67,916,379	F1362I	probably benign	Het
Vwf	T	C	6: 125,566,257	S154P	probably benign	Het
Zfp445	T	C	9: 122,852,345	R844G	probably benign	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
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
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
R8703:Skint5	UTSW	4	113876010	missense	unknown
R8710:Skint5	UTSW	4	113626590	missense	unknown
R8927:Skint5	UTSW	4	113483902	missense	probably benign	0.23
R8928:Skint5	UTSW	4	113483902	missense	probably benign	0.23
R8950:Skint5	UTSW	4	113517152	missense	unknown
R9047:Skint5	UTSW	4	113655722	missense	unknown
R9053:Skint5	UTSW	4	113546487	missense	unknown
R9216:Skint5	UTSW	4	113535758	missense	unknown
R9441:Skint5	UTSW	4	113490651	missense	unknown
R9551:Skint5	UTSW	4	113940855	missense	possibly damaging	0.93
R9552:Skint5	UTSW	4	113940855	missense	possibly damaging	0.93
R9750:Skint5	UTSW	4	113870669	missense	unknown
X0028:Skint5	UTSW	4	113691109	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACCTTTTAATGGGCCACACTGA -3'
(R):5'- AGTTTTCCTGCCATCAGTAAATCAA -3'

Sequencing Primer
(F):5'- TGGAGCTGTAAGTAATGAACTTTAAC -3'
(R):5'- TGCCATCAGTAAATCAAATGGATACC -3'

Posted On

2016-12-16