Mutagenetix > Incidental Mutation

Incidental Mutation 'R1653:Skint5'

188844

Institutional Source

Beutler Lab

Gene Symbol

Skint5

Ensembl Gene

ENSMUSG00000078598

Gene Name

selection and upkeep of intraepithelial T cells 5

Synonyms

OTTMUSG00000008560

MMRRC Submission

039689-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1653 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

113477891-113999503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113490678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1289 (S1289T)

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: S1310T

SMART Domains

Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: S1310T

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: S1289T

SMART Domains

Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: S1289T

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	G	T	7: 127,384,480 (GRCm38)	H483Q	possibly damaging	Het
Adam34	A	T	8: 43,650,645 (GRCm38)	C654*	probably null	Het
Adamts19	T	A	18: 58,890,293 (GRCm38)	N253K	probably benign	Het
Adgrb3	A	G	1: 25,101,503 (GRCm38)	L1162S	probably benign	Het
Ap2b1	T	A	11: 83,346,831 (GRCm38)	Y574N	probably damaging	Het
Atrn	A	G	2: 130,935,624 (GRCm38)	I198V	probably benign	Het
Bcan	T	A	3: 87,994,196 (GRCm38)	I400F	probably damaging	Het
Capn10	A	G	1: 92,946,898 (GRCm38)	Y617C	probably damaging	Het
Capn8	A	G	1: 182,623,951 (GRCm38)	N578D	probably benign	Het
Casd1	T	C	6: 4,624,134 (GRCm38)	L309P	probably benign	Het
Ccser1	T	A	6: 61,311,465 (GRCm38)	I204K	probably benign	Het
Cd276	T	C	9: 58,537,449 (GRCm38)	T80A	probably benign	Het
Cdh3	T	C	8: 106,539,068 (GRCm38)	S248P	probably damaging	Het
Celsr2	T	C	3: 108,413,520 (GRCm38)	T659A	possibly damaging	Het
Col6a4	C	T	9: 106,072,409 (GRCm38)	V676I	probably damaging	Het
Crmp1	T	A	5: 37,286,468 (GRCm38)	V575D	probably damaging	Het
Ep400	G	A	5: 110,693,174 (GRCm38)	Q1795*	probably null	Het
Gcnt3	A	G	9: 70,035,077 (GRCm38)	C70R	probably damaging	Het
Gm12258	T	C	11: 58,858,287 (GRCm38)	I96T	possibly damaging	Het
Gpr183	A	G	14: 121,954,263 (GRCm38)	F282S	probably damaging	Het
Igfals	T	C	17: 24,881,078 (GRCm38)	V381A	probably benign	Het
Irs3	C	A	5: 137,644,521 (GRCm38)	L218F	probably damaging	Het
Kdm5b	T	C	1: 134,602,481 (GRCm38)	F410S	probably damaging	Het
Klc4	T	C	17: 46,631,859 (GRCm38)	Y593C	possibly damaging	Het
Lce1h	T	A	3: 92,763,443 (GRCm38)	Q134L	unknown	Het
Lyst	T	C	13: 13,635,226 (GRCm38)	S494P	probably damaging	Het
March3	A	G	18: 56,811,895 (GRCm38)	M42T	probably benign	Het
Myh7	A	G	14: 54,990,789 (GRCm38)	I250T	probably benign	Het
N4bp1	G	T	8: 86,844,948 (GRCm38)	H807Q	probably benign	Het
Ndn	C	T	7: 62,348,508 (GRCm38)	P34L	probably benign	Het
Nfs1	C	T	2: 156,125,336 (GRCm38)	G44D	probably damaging	Het
Nrg1	C	T	8: 31,818,653 (GRCm38)	R445H	probably damaging	Het
Olfr1507	A	T	14: 52,490,772 (GRCm38)	F64Y	probably damaging	Het
Olfr299	T	C	7: 86,466,212 (GRCm38)	V267A	probably benign	Het
Olfr683	T	A	7: 105,143,870 (GRCm38)	D141V	possibly damaging	Het
Pak7	C	T	2: 136,116,887 (GRCm38)	V94M	probably damaging	Het
Pdk1	G	A	2: 71,888,995 (GRCm38)		probably null	Het
Sin3b	G	T	8: 72,741,519 (GRCm38)	V290L	probably benign	Het
Sirt1	T	C	10: 63,321,809 (GRCm38)	T609A	probably benign	Het
Slc32a1	A	T	2: 158,614,889 (GRCm38)	H488L	probably benign	Het
Slc35b3	A	G	13: 38,955,798 (GRCm38)	S18P	probably benign	Het
Spaca7	T	A	8: 12,586,501 (GRCm38)	I109K	possibly damaging	Het
Tmem204	A	G	17: 25,080,527 (GRCm38)	L6P	possibly damaging	Het
Tubgcp6	G	A	15: 89,107,442 (GRCm38)	R651C	probably damaging	Het
Vps13b	T	A	15: 35,607,272 (GRCm38)	L1117*	probably null	Het
Wdcp	T	C	12: 4,851,815 (GRCm38)	L557P	probably damaging	Het
Wwp2	T	C	8: 107,483,410 (GRCm38)	F140S	possibly damaging	Het
Zfp429	C	T	13: 67,389,924 (GRCm38)	R467H	possibly damaging	Het
Zfp839	T	A	12: 110,855,250 (GRCm38)	M166K	probably benign	Het
Zfyve9	G	A	4: 108,660,577 (GRCm38)	Q1106*	probably null	Het
Zrsr1	T	A	11: 22,974,158 (GRCm38)	C311S	probably damaging	Het

Other mutations in Skint5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Skint5	APN	4	113,542,873 (GRCm38)	critical splice donor site	probably null
IGL01288:Skint5	APN	4	113,524,135 (GRCm38)	intron	probably benign
IGL01313:Skint5	APN	4	113,805,164 (GRCm38)	missense	unknown
IGL01446:Skint5	APN	4	113,942,822 (GRCm38)	missense	probably damaging	1.00
IGL01861:Skint5	APN	4	113,559,824 (GRCm38)	splice site	probably benign
IGL01955:Skint5	APN	4	113,623,736 (GRCm38)	critical splice donor site	probably null
IGL02150:Skint5	APN	4	113,885,791 (GRCm38)	missense	unknown
IGL02190:Skint5	APN	4	113,940,765 (GRCm38)	missense	possibly damaging	0.93
IGL02271:Skint5	APN	4	113,937,581 (GRCm38)	splice site	probably null
IGL02426:Skint5	APN	4	113,940,784 (GRCm38)	missense	probably benign	0.08
IGL02484:Skint5	APN	4	113,942,553 (GRCm38)	nonsense	probably null
IGL02548:Skint5	APN	4	113,731,076 (GRCm38)	missense	unknown
IGL02556:Skint5	APN	4	113,940,735 (GRCm38)	missense	probably damaging	0.99
IGL02674:Skint5	APN	4	113,630,385 (GRCm38)	splice site	probably benign
IGL02697:Skint5	APN	4	113,479,713 (GRCm38)	missense	probably benign	0.23
IGL02710:Skint5	APN	4	113,477,959 (GRCm38)	missense	unknown
IGL02721:Skint5	APN	4	113,942,549 (GRCm38)	missense	probably damaging	0.96
IGL02750:Skint5	APN	4	113,539,362 (GRCm38)	missense	unknown
IGL03121:Skint5	APN	4	113,717,087 (GRCm38)	missense	unknown
IGL03167:Skint5	APN	4	113,893,850 (GRCm38)	missense	unknown
IGL03247:Skint5	APN	4	113,940,808 (GRCm38)	missense	probably damaging	1.00
IGL03264:Skint5	APN	4	113,486,657 (GRCm38)	missense	unknown
IGL03281:Skint5	APN	4	113,667,218 (GRCm38)	missense	unknown
IGL03353:Skint5	APN	4	113,742,182 (GRCm38)	missense	unknown
IGL03377:Skint5	APN	4	113,763,538 (GRCm38)	missense	unknown
PIT4377001:Skint5	UTSW	4	113,597,703 (GRCm38)	missense	unknown
R0006:Skint5	UTSW	4	113,893,862 (GRCm38)	splice site	probably benign
R0026:Skint5	UTSW	4	113,546,468 (GRCm38)	splice site	probably benign
R0096:Skint5	UTSW	4	113,597,768 (GRCm38)	splice site	probably benign
R0096:Skint5	UTSW	4	113,597,768 (GRCm38)	splice site	probably benign
R0277:Skint5	UTSW	4	113,937,621 (GRCm38)	missense	probably benign	0.04
R0323:Skint5	UTSW	4	113,937,621 (GRCm38)	missense	probably benign	0.04
R0369:Skint5	UTSW	4	113,512,023 (GRCm38)	critical splice donor site	probably null
R0375:Skint5	UTSW	4	113,705,596 (GRCm38)	missense	unknown
R0464:Skint5	UTSW	4	113,535,731 (GRCm38)	missense	unknown
R0479:Skint5	UTSW	4	113,655,672 (GRCm38)	missense	unknown
R0507:Skint5	UTSW	4	113,567,930 (GRCm38)	splice site	probably null
R0533:Skint5	UTSW	4	113,827,867 (GRCm38)	missense	unknown
R0628:Skint5	UTSW	4	113,731,069 (GRCm38)	nonsense	probably null
R0645:Skint5	UTSW	4	113,763,482 (GRCm38)	missense	unknown
R1201:Skint5	UTSW	4	113,556,145 (GRCm38)	missense	unknown
R1240:Skint5	UTSW	4	113,717,107 (GRCm38)	missense	unknown
R1270:Skint5	UTSW	4	113,942,659 (GRCm38)	nonsense	probably null
R1390:Skint5	UTSW	4	113,655,684 (GRCm38)	missense	unknown
R1398:Skint5	UTSW	4	113,779,071 (GRCm38)	missense	unknown
R1438:Skint5	UTSW	4	113,556,111 (GRCm38)	splice site	probably benign
R1591:Skint5	UTSW	4	113,999,454 (GRCm38)	critical splice donor site	probably null
R1631:Skint5	UTSW	4	113,483,926 (GRCm38)	missense	probably benign	0.23
R1722:Skint5	UTSW	4	113,846,311 (GRCm38)	splice site	probably null
R1735:Skint5	UTSW	4	113,563,459 (GRCm38)	missense	unknown
R1765:Skint5	UTSW	4	113,577,661 (GRCm38)	missense	unknown
R2054:Skint5	UTSW	4	113,819,163 (GRCm38)	critical splice donor site	probably null
R2058:Skint5	UTSW	4	113,870,700 (GRCm38)	missense	possibly damaging	0.53
R2197:Skint5	UTSW	4	113,940,849 (GRCm38)	missense	probably damaging	1.00
R2239:Skint5	UTSW	4	113,546,536 (GRCm38)	missense	unknown
R2380:Skint5	UTSW	4	113,546,536 (GRCm38)	missense	unknown
R2406:Skint5	UTSW	4	113,942,667 (GRCm38)	missense	probably damaging	0.97
R2512:Skint5	UTSW	4	113,630,419 (GRCm38)	missense	unknown
R2913:Skint5	UTSW	4	113,524,092 (GRCm38)	intron	probably benign
R3522:Skint5	UTSW	4	113,756,905 (GRCm38)	critical splice donor site	probably null
R3779:Skint5	UTSW	4	113,779,040 (GRCm38)	splice site	probably benign
R3815:Skint5	UTSW	4	113,846,299 (GRCm38)	missense	possibly damaging	0.86
R3815:Skint5	UTSW	4	113,629,122 (GRCm38)	splice site	probably benign
R3816:Skint5	UTSW	4	113,629,122 (GRCm38)	splice site	probably benign
R3817:Skint5	UTSW	4	113,629,122 (GRCm38)	splice site	probably benign
R3818:Skint5	UTSW	4	113,629,122 (GRCm38)	splice site	probably benign
R3837:Skint5	UTSW	4	113,940,741 (GRCm38)	missense	probably damaging	1.00
R3943:Skint5	UTSW	4	113,942,753 (GRCm38)	missense	probably damaging	1.00
R3944:Skint5	UTSW	4	113,942,753 (GRCm38)	missense	probably damaging	1.00
R4037:Skint5	UTSW	4	113,885,814 (GRCm38)	missense	unknown
R4038:Skint5	UTSW	4	113,885,814 (GRCm38)	missense	unknown
R4039:Skint5	UTSW	4	113,885,814 (GRCm38)	missense	unknown
R4280:Skint5	UTSW	4	113,942,552 (GRCm38)	missense	probably damaging	1.00
R4308:Skint5	UTSW	4	113,483,967 (GRCm38)	missense	unknown
R4386:Skint5	UTSW	4	113,483,893 (GRCm38)	missense	probably benign	0.23
R4513:Skint5	UTSW	4	113,742,185 (GRCm38)	missense	unknown
R4575:Skint5	UTSW	4	113,667,193 (GRCm38)	missense	unknown
R4631:Skint5	UTSW	4	113,629,117 (GRCm38)	critical splice acceptor site	probably null
R4722:Skint5	UTSW	4	113,893,855 (GRCm38)	missense	unknown
R4854:Skint5	UTSW	4	113,580,528 (GRCm38)	missense	unknown
R5010:Skint5	UTSW	4	113,546,537 (GRCm38)	missense	unknown
R5070:Skint5	UTSW	4	113,795,538 (GRCm38)	missense	unknown
R5158:Skint5	UTSW	4	113,742,212 (GRCm38)	missense	unknown
R5163:Skint5	UTSW	4	113,795,565 (GRCm38)	missense	unknown
R5190:Skint5	UTSW	4	113,763,514 (GRCm38)	missense	unknown
R5232:Skint5	UTSW	4	113,577,644 (GRCm38)	missense	unknown
R5257:Skint5	UTSW	4	113,577,662 (GRCm38)	missense	unknown
R5499:Skint5	UTSW	4	113,942,503 (GRCm38)	critical splice donor site	probably null
R5569:Skint5	UTSW	4	113,688,706 (GRCm38)	critical splice acceptor site	probably null
R5776:Skint5	UTSW	4	113,763,503 (GRCm38)	missense	unknown
R5986:Skint5	UTSW	4	113,995,648 (GRCm38)	missense	probably benign	0.11
R5987:Skint5	UTSW	4	113,885,808 (GRCm38)	missense	unknown
R5995:Skint5	UTSW	4	113,893,832 (GRCm38)	missense	unknown
R6063:Skint5	UTSW	4	113,490,645 (GRCm38)	missense	probably benign	0.23
R6074:Skint5	UTSW	4	113,805,200 (GRCm38)	missense	unknown
R6111:Skint5	UTSW	4	113,705,648 (GRCm38)	missense	unknown
R6173:Skint5	UTSW	4	113,535,710 (GRCm38)	missense	unknown
R6238:Skint5	UTSW	4	113,942,867 (GRCm38)	splice site	probably null
R6248:Skint5	UTSW	4	113,779,089 (GRCm38)	missense	unknown
R6318:Skint5	UTSW	4	113,517,133 (GRCm38)	missense	unknown
R6370:Skint5	UTSW	4	113,614,110 (GRCm38)	missense	unknown
R6404:Skint5	UTSW	4	113,942,609 (GRCm38)	missense	probably damaging	0.97
R6499:Skint5	UTSW	4	113,539,355 (GRCm38)	missense	unknown
R6646:Skint5	UTSW	4	113,940,777 (GRCm38)	missense	possibly damaging	0.94
R6737:Skint5	UTSW	4	113,535,739 (GRCm38)	missense	unknown
R6795:Skint5	UTSW	4	113,667,223 (GRCm38)	missense	unknown
R6815:Skint5	UTSW	4	113,717,127 (GRCm38)	critical splice acceptor site	probably null
R6935:Skint5	UTSW	4	113,942,596 (GRCm38)	missense	possibly damaging	0.56
R7028:Skint5	UTSW	4	113,940,839 (GRCm38)	missense	probably damaging	1.00
R7043:Skint5	UTSW	4	113,717,107 (GRCm38)	missense	unknown
R7071:Skint5	UTSW	4	113,779,080 (GRCm38)	missense	unknown
R7142:Skint5	UTSW	4	113,571,594 (GRCm38)	missense	unknown
R7197:Skint5	UTSW	4	113,580,482 (GRCm38)	critical splice donor site	probably null
R7208:Skint5	UTSW	4	113,539,339 (GRCm38)	missense	unknown
R7297:Skint5	UTSW	4	113,542,934 (GRCm38)	missense	unknown
R7470:Skint5	UTSW	4	113,885,803 (GRCm38)	missense	unknown
R7470:Skint5	UTSW	4	113,756,931 (GRCm38)	missense	unknown
R7500:Skint5	UTSW	4	113,559,838 (GRCm38)	missense	unknown
R7547:Skint5	UTSW	4	113,626,588 (GRCm38)	missense	unknown
R7556:Skint5	UTSW	4	113,567,965 (GRCm38)	missense	unknown
R7619:Skint5	UTSW	4	113,524,108 (GRCm38)	missense	unknown
R7629:Skint5	UTSW	4	113,942,660 (GRCm38)	missense	probably damaging	1.00
R7646:Skint5	UTSW	4	113,763,542 (GRCm38)	critical splice acceptor site	probably null
R7725:Skint5	UTSW	4	113,827,902 (GRCm38)	missense	unknown
R7788:Skint5	UTSW	4	113,546,518 (GRCm38)	missense	unknown
R7818:Skint5	UTSW	4	113,942,726 (GRCm38)	missense	possibly damaging	0.56
R7819:Skint5	UTSW	4	113,559,835 (GRCm38)	missense	unknown
R7958:Skint5	UTSW	4	113,623,783 (GRCm38)	missense	unknown
R8150:Skint5	UTSW	4	113,940,890 (GRCm38)	missense	probably benign	0.21
R8214:Skint5	UTSW	4	113,804,942 (GRCm38)	splice site	probably null
R8413:Skint5	UTSW	4	113,715,703 (GRCm38)	missense	unknown
R8420:Skint5	UTSW	4	113,580,482 (GRCm38)	critical splice donor site	probably null
R8459:Skint5	UTSW	4	113,846,284 (GRCm38)	nonsense	probably null
R8703:Skint5	UTSW	4	113,876,010 (GRCm38)	missense	unknown
R8710:Skint5	UTSW	4	113,626,590 (GRCm38)	missense	unknown
R8927:Skint5	UTSW	4	113,483,902 (GRCm38)	missense	probably benign	0.23
R8928:Skint5	UTSW	4	113,483,902 (GRCm38)	missense	probably benign	0.23
R8950:Skint5	UTSW	4	113,517,152 (GRCm38)	missense	unknown
R9047:Skint5	UTSW	4	113,655,722 (GRCm38)	missense	unknown
R9053:Skint5	UTSW	4	113,546,487 (GRCm38)	missense	unknown
R9216:Skint5	UTSW	4	113,535,758 (GRCm38)	missense	unknown
R9441:Skint5	UTSW	4	113,490,651 (GRCm38)	missense	unknown
R9551:Skint5	UTSW	4	113,940,855 (GRCm38)	missense	possibly damaging	0.93
R9552:Skint5	UTSW	4	113,940,855 (GRCm38)	missense	possibly damaging	0.93
R9750:Skint5	UTSW	4	113,870,669 (GRCm38)	missense	unknown
X0028:Skint5	UTSW	4	113,691,109 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAAGACTCTGTGTCTGTGTTGCCTT -3'
(R):5'- CAGCACTATCCTCCTGACAGTCTCA -3'

Sequencing Primer
(F):5'- TGCCCATGTTATTCAATCTGC -3'
(R):5'- TCCTGACAGTCTCATAAAAAAAGGGG -3'

Posted On

2014-05-09