Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02190:Skint5'

283817

Institutional Source

Australian Phenomics Network (link to record)

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: 0.055) question?

Stock #

IGL02190

Quality Score

Status

Chromosome

Chromosomal Location

113477891-113999503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113940765 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 207 (Q207R)

Ref Sequence

ENSEMBL: ENSMUSP00000129582 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153413

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169631
AA Change: Q207R

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: Q207R

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

possibly damaging
Transcript: ENSMUST00000170105
AA Change: Q207R

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: Q207R

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

possibly damaging
Transcript: ENSMUST00000171627
AA Change: Q193R

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130639
Gene: ENSMUSG00000078598
AA Change: Q193R

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,140,724		probably benign	Het
AI314180	A	T	4: 58,800,190	S1838R	probably benign	Het
Ano1	T	C	7: 144,618,883	E521G	probably benign	Het
As3mt	A	T	19: 46,719,945	I224F	probably benign	Het
Atp5j2	C	A	5: 145,183,832		probably benign	Het
Cacna1h	A	G	17: 25,433,026	V48A	probably benign	Het
Ctu2	T	C	8: 122,481,658		probably benign	Het
Efcab5	T	C	11: 77,121,314	R841G	probably benign	Het
Erbb3	A	T	10: 128,571,010		probably null	Het
Fkbp15	G	T	4: 62,304,822	P947T	possibly damaging	Het
Gabpb1	A	G	2: 126,653,549		probably benign	Het
Gcn1l1	G	T	5: 115,614,124	V2100L	probably damaging	Het
Gemin5	A	C	11: 58,134,842	V977G	probably damaging	Het
Gpr107	T	A	2: 31,178,320	Y265N	probably damaging	Het
Gpx8	T	C	13: 113,043,309		probably benign	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Ift172	C	T	5: 31,254,458	V1587I	possibly damaging	Het
Lrrc45	A	G	11: 120,718,508	T398A	probably damaging	Het
Mmrn1	G	T	6: 60,987,193	V1059L	probably benign	Het
Morn5	A	G	2: 36,079,515	D147G	probably benign	Het
Mphosph9	T	C	5: 124,265,425	R847G	possibly damaging	Het
Nutm1	C	T	2: 112,249,406	W721*	probably null	Het
Olfr1136	A	G	2: 87,693,063	M273T	probably benign	Het
Olfr347	T	C	2: 36,734,579	L86P	probably benign	Het
Olfr531	T	C	7: 140,400,120		probably benign	Het
Rgl3	A	G	9: 21,981,708	F227L	probably benign	Het
Ropn1l	G	T	15: 31,443,341	L182I	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Scgb1a1	A	T	19: 9,087,867	L12Q	probably damaging	Het
Scp2	A	G	4: 108,087,128	S237P	probably benign	Het
Slc16a5	A	G	11: 115,462,609	M1V	probably null	Het
Tox2	G	A	2: 163,323,006	R522H	possibly damaging	Het
Trip12	A	T	1: 84,766,070	N505K	probably damaging	Het
Tuba1c	G	A	15: 99,037,989	D444N	unknown	Het
Vmn1r174	A	G	7: 23,754,827	E306G	unknown	Het
Vmn2r111	A	T	17: 22,570,773	F417L	probably benign	Het
Vmn2r15	A	T	5: 109,293,374	M206K	probably damaging	Het
Vmn2r95	G	T	17: 18,451,776	A592S	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	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
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
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
X0028:Skint5	UTSW	4	113691109	missense	unknown

Posted On

2015-04-16