Mutagenetix > Incidental Mutation

Incidental Mutation 'R7043:Skint5'

547150

Institutional Source

Beutler Lab

Gene Symbol

Skint5

Ensembl Gene

ENSMUSG00000078598

Gene Name

selection and upkeep of intraepithelial T cells 5

Synonyms

OTTMUSG00000008560

MMRRC Submission

045142-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7043 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113335088-113856700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113574304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 749 (L749Q)

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: L749Q

SMART Domains

Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: L749Q

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: L749Q

SMART Domains

Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: L749Q

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,484,474 (GRCm39)	L1596P	probably damaging	Het
Actr3b	A	G	5: 26,054,936 (GRCm39)	M329V	probably benign	Het
Avpr1a	C	T	10: 122,285,586 (GRCm39)	R293C	probably damaging	Het
Bdp1	A	T	13: 100,215,215 (GRCm39)	C390S	probably benign	Het
C2cd2l	A	T	9: 44,227,848 (GRCm39)	M131K	probably damaging	Het
Ccna2	T	C	3: 36,624,302 (GRCm39)		probably benign	Het
Cd53	T	C	3: 106,670,577 (GRCm39)	D152G	probably damaging	Het
Cdpf1	A	T	15: 85,692,485 (GRCm39)	V66E	probably null	Het
Chd9	G	T	8: 91,760,843 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,818,447 (GRCm39)	D1710G	probably benign	Het
Dst	A	G	1: 34,296,992 (GRCm39)	T5794A	probably damaging	Het
Eif2s1	G	T	12: 78,923,882 (GRCm39)	R113L	probably damaging	Het
Eif5	A	G	12: 111,511,030 (GRCm39)	D423G	probably benign	Het
Eri1	A	C	8: 35,945,792 (GRCm39)	D164E	probably damaging	Het
F7	A	T	8: 13,083,997 (GRCm39)	R227S	probably benign	Het
Gm14496	T	G	2: 181,642,120 (GRCm39)	I597S	possibly damaging	Het
Gpr85	T	A	6: 13,835,876 (GRCm39)	N343Y	probably damaging	Het
H2-T23	A	T	17: 36,342,803 (GRCm39)	S112T	probably damaging	Het
Itga9	C	T	9: 118,598,184 (GRCm39)	P573S	probably damaging	Het
Kcnb2	A	T	1: 15,383,150 (GRCm39)	M159L	probably benign	Het
Kmt5b	T	A	19: 3,865,220 (GRCm39)	S738R	possibly damaging	Het
Lrp1b	T	C	2: 40,812,426 (GRCm39)	N2393S	possibly damaging	Het
Mme	T	A	3: 63,252,638 (GRCm39)	Y427*	probably null	Het
Naip1	A	G	13: 100,563,422 (GRCm39)	V581A	probably damaging	Het
Ndel1	A	G	11: 68,713,450 (GRCm39)	L329P	possibly damaging	Het
Nthl1	T	G	17: 24,857,644 (GRCm39)	V281G	probably benign	Het
Or52ab2	C	A	7: 102,970,292 (GRCm39)		probably benign	Het
Per2	G	T	1: 91,347,130 (GRCm39)	H1197Q	probably benign	Het
Phf8-ps	T	C	17: 33,284,306 (GRCm39)	D832G	possibly damaging	Het
Plec	G	A	15: 76,093,328 (GRCm39)		probably benign	Het
Prpf6	A	T	2: 181,291,297 (GRCm39)	H704L	probably benign	Het
Recql5	C	T	11: 115,821,502 (GRCm39)		probably null	Het
Rimbp3	G	A	16: 17,028,972 (GRCm39)	V799M	probably damaging	Het
Sema3f	C	T	9: 107,568,599 (GRCm39)	A169T	possibly damaging	Het
Serpinb9f	T	C	13: 33,509,970 (GRCm39)	I54T	possibly damaging	Het
Slc35g3	T	C	11: 69,652,476 (GRCm39)	D12G	probably benign	Het
Sptbn1	A	G	11: 30,053,323 (GRCm39)	V2252A	probably benign	Het
Stab2	T	C	10: 86,706,110 (GRCm39)	N1750S	probably damaging	Het
Supt5	C	A	7: 28,019,435 (GRCm39)	R543L	probably benign	Het
Syne1	T	C	10: 5,022,193 (GRCm39)	E7806G	possibly damaging	Het
Syt12	T	A	19: 4,501,049 (GRCm39)	M334L	probably benign	Het
Tk1	A	G	11: 117,706,779 (GRCm39)	*234R	probably null	Het
Trp73	T	G	4: 154,151,464 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,727,477 (GRCm39)		probably benign	Het
Vmn2r11	T	C	5: 109,200,098 (GRCm39)	I452V	probably benign	Het
Wwox	G	T	8: 115,406,578 (GRCm39)	V190L	probably damaging	Het
Wwp2	A	G	8: 108,184,532 (GRCm39)	H80R	probably benign	Het
Zc3h3	A	G	15: 75,681,485 (GRCm39)	I532T	probably damaging	Het
Zfp280d	A	G	9: 72,226,539 (GRCm39)	K328E	probably damaging	Het
Zfp365	A	G	10: 67,745,656 (GRCm39)	S41P	probably damaging	Het

Other mutations in Skint5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Skint5	APN	4	113,400,070 (GRCm39)	critical splice donor site	probably null
IGL01288:Skint5	APN	4	113,381,332 (GRCm39)	intron	probably benign
IGL01313:Skint5	APN	4	113,662,361 (GRCm39)	missense	unknown
IGL01446:Skint5	APN	4	113,800,019 (GRCm39)	missense	probably damaging	1.00
IGL01861:Skint5	APN	4	113,417,021 (GRCm39)	splice site	probably benign
IGL01955:Skint5	APN	4	113,480,933 (GRCm39)	critical splice donor site	probably null
IGL02150:Skint5	APN	4	113,742,988 (GRCm39)	missense	unknown
IGL02190:Skint5	APN	4	113,797,962 (GRCm39)	missense	possibly damaging	0.93
IGL02271:Skint5	APN	4	113,794,778 (GRCm39)	splice site	probably null
IGL02426:Skint5	APN	4	113,797,981 (GRCm39)	missense	probably benign	0.08
IGL02484:Skint5	APN	4	113,799,750 (GRCm39)	nonsense	probably null
IGL02548:Skint5	APN	4	113,588,273 (GRCm39)	missense	unknown
IGL02556:Skint5	APN	4	113,797,932 (GRCm39)	missense	probably damaging	0.99
IGL02674:Skint5	APN	4	113,487,582 (GRCm39)	splice site	probably benign
IGL02697:Skint5	APN	4	113,336,910 (GRCm39)	missense	probably benign	0.23
IGL02710:Skint5	APN	4	113,335,156 (GRCm39)	missense	unknown
IGL02721:Skint5	APN	4	113,799,746 (GRCm39)	missense	probably damaging	0.96
IGL02750:Skint5	APN	4	113,396,559 (GRCm39)	missense	unknown
IGL03121:Skint5	APN	4	113,574,284 (GRCm39)	missense	unknown
IGL03167:Skint5	APN	4	113,751,047 (GRCm39)	missense	unknown
IGL03247:Skint5	APN	4	113,798,005 (GRCm39)	missense	probably damaging	1.00
IGL03264:Skint5	APN	4	113,343,854 (GRCm39)	missense	unknown
IGL03281:Skint5	APN	4	113,524,415 (GRCm39)	missense	unknown
IGL03353:Skint5	APN	4	113,599,379 (GRCm39)	missense	unknown
IGL03377:Skint5	APN	4	113,620,735 (GRCm39)	missense	unknown
PIT4377001:Skint5	UTSW	4	113,454,900 (GRCm39)	missense	unknown
R0006:Skint5	UTSW	4	113,751,059 (GRCm39)	splice site	probably benign
R0026:Skint5	UTSW	4	113,403,665 (GRCm39)	splice site	probably benign
R0096:Skint5	UTSW	4	113,454,965 (GRCm39)	splice site	probably benign
R0096:Skint5	UTSW	4	113,454,965 (GRCm39)	splice site	probably benign
R0277:Skint5	UTSW	4	113,794,818 (GRCm39)	missense	probably benign	0.04
R0323:Skint5	UTSW	4	113,794,818 (GRCm39)	missense	probably benign	0.04
R0369:Skint5	UTSW	4	113,369,220 (GRCm39)	critical splice donor site	probably null
R0375:Skint5	UTSW	4	113,562,793 (GRCm39)	missense	unknown
R0464:Skint5	UTSW	4	113,392,928 (GRCm39)	missense	unknown
R0479:Skint5	UTSW	4	113,512,869 (GRCm39)	missense	unknown
R0507:Skint5	UTSW	4	113,425,127 (GRCm39)	splice site	probably null
R0533:Skint5	UTSW	4	113,685,064 (GRCm39)	missense	unknown
R0628:Skint5	UTSW	4	113,588,266 (GRCm39)	nonsense	probably null
R0645:Skint5	UTSW	4	113,620,679 (GRCm39)	missense	unknown
R1201:Skint5	UTSW	4	113,413,342 (GRCm39)	missense	unknown
R1240:Skint5	UTSW	4	113,574,304 (GRCm39)	missense	unknown
R1270:Skint5	UTSW	4	113,799,856 (GRCm39)	nonsense	probably null
R1390:Skint5	UTSW	4	113,512,881 (GRCm39)	missense	unknown
R1398:Skint5	UTSW	4	113,636,268 (GRCm39)	missense	unknown
R1438:Skint5	UTSW	4	113,413,308 (GRCm39)	splice site	probably benign
R1591:Skint5	UTSW	4	113,856,651 (GRCm39)	critical splice donor site	probably null
R1631:Skint5	UTSW	4	113,341,123 (GRCm39)	missense	probably benign	0.23
R1653:Skint5	UTSW	4	113,347,875 (GRCm39)	missense	unknown
R1722:Skint5	UTSW	4	113,703,508 (GRCm39)	splice site	probably null
R1735:Skint5	UTSW	4	113,420,656 (GRCm39)	missense	unknown
R1765:Skint5	UTSW	4	113,434,858 (GRCm39)	missense	unknown
R2054:Skint5	UTSW	4	113,676,360 (GRCm39)	critical splice donor site	probably null
R2058:Skint5	UTSW	4	113,727,897 (GRCm39)	missense	possibly damaging	0.53
R2197:Skint5	UTSW	4	113,798,046 (GRCm39)	missense	probably damaging	1.00
R2239:Skint5	UTSW	4	113,403,733 (GRCm39)	missense	unknown
R2380:Skint5	UTSW	4	113,403,733 (GRCm39)	missense	unknown
R2406:Skint5	UTSW	4	113,799,864 (GRCm39)	missense	probably damaging	0.97
R2512:Skint5	UTSW	4	113,487,616 (GRCm39)	missense	unknown
R2913:Skint5	UTSW	4	113,381,289 (GRCm39)	intron	probably benign
R3522:Skint5	UTSW	4	113,614,102 (GRCm39)	critical splice donor site	probably null
R3779:Skint5	UTSW	4	113,636,237 (GRCm39)	splice site	probably benign
R3815:Skint5	UTSW	4	113,703,496 (GRCm39)	missense	possibly damaging	0.86
R3815:Skint5	UTSW	4	113,486,319 (GRCm39)	splice site	probably benign
R3816:Skint5	UTSW	4	113,486,319 (GRCm39)	splice site	probably benign
R3817:Skint5	UTSW	4	113,486,319 (GRCm39)	splice site	probably benign
R3818:Skint5	UTSW	4	113,486,319 (GRCm39)	splice site	probably benign
R3837:Skint5	UTSW	4	113,797,938 (GRCm39)	missense	probably damaging	1.00
R3943:Skint5	UTSW	4	113,799,950 (GRCm39)	missense	probably damaging	1.00
R3944:Skint5	UTSW	4	113,799,950 (GRCm39)	missense	probably damaging	1.00
R4037:Skint5	UTSW	4	113,743,011 (GRCm39)	missense	unknown
R4038:Skint5	UTSW	4	113,743,011 (GRCm39)	missense	unknown
R4039:Skint5	UTSW	4	113,743,011 (GRCm39)	missense	unknown
R4280:Skint5	UTSW	4	113,799,749 (GRCm39)	missense	probably damaging	1.00
R4308:Skint5	UTSW	4	113,341,164 (GRCm39)	missense	unknown
R4386:Skint5	UTSW	4	113,341,090 (GRCm39)	missense	probably benign	0.23
R4513:Skint5	UTSW	4	113,599,382 (GRCm39)	missense	unknown
R4575:Skint5	UTSW	4	113,524,390 (GRCm39)	missense	unknown
R4631:Skint5	UTSW	4	113,486,314 (GRCm39)	critical splice acceptor site	probably null
R4722:Skint5	UTSW	4	113,751,052 (GRCm39)	missense	unknown
R4854:Skint5	UTSW	4	113,437,725 (GRCm39)	missense	unknown
R5010:Skint5	UTSW	4	113,403,734 (GRCm39)	missense	unknown
R5070:Skint5	UTSW	4	113,652,735 (GRCm39)	missense	unknown
R5158:Skint5	UTSW	4	113,599,409 (GRCm39)	missense	unknown
R5163:Skint5	UTSW	4	113,652,762 (GRCm39)	missense	unknown
R5190:Skint5	UTSW	4	113,620,711 (GRCm39)	missense	unknown
R5232:Skint5	UTSW	4	113,434,841 (GRCm39)	missense	unknown
R5257:Skint5	UTSW	4	113,434,859 (GRCm39)	missense	unknown
R5499:Skint5	UTSW	4	113,799,700 (GRCm39)	critical splice donor site	probably null
R5569:Skint5	UTSW	4	113,545,903 (GRCm39)	critical splice acceptor site	probably null
R5776:Skint5	UTSW	4	113,620,700 (GRCm39)	missense	unknown
R5986:Skint5	UTSW	4	113,852,845 (GRCm39)	missense	probably benign	0.11
R5987:Skint5	UTSW	4	113,743,005 (GRCm39)	missense	unknown
R5995:Skint5	UTSW	4	113,751,029 (GRCm39)	missense	unknown
R6063:Skint5	UTSW	4	113,347,842 (GRCm39)	missense	probably benign	0.23
R6074:Skint5	UTSW	4	113,662,397 (GRCm39)	missense	unknown
R6111:Skint5	UTSW	4	113,562,845 (GRCm39)	missense	unknown
R6173:Skint5	UTSW	4	113,392,907 (GRCm39)	missense	unknown
R6238:Skint5	UTSW	4	113,800,064 (GRCm39)	splice site	probably null
R6248:Skint5	UTSW	4	113,636,286 (GRCm39)	missense	unknown
R6318:Skint5	UTSW	4	113,374,330 (GRCm39)	missense	unknown
R6370:Skint5	UTSW	4	113,471,307 (GRCm39)	missense	unknown
R6404:Skint5	UTSW	4	113,799,806 (GRCm39)	missense	probably damaging	0.97
R6499:Skint5	UTSW	4	113,396,552 (GRCm39)	missense	unknown
R6646:Skint5	UTSW	4	113,797,974 (GRCm39)	missense	possibly damaging	0.94
R6737:Skint5	UTSW	4	113,392,936 (GRCm39)	missense	unknown
R6795:Skint5	UTSW	4	113,524,420 (GRCm39)	missense	unknown
R6815:Skint5	UTSW	4	113,574,324 (GRCm39)	critical splice acceptor site	probably null
R6935:Skint5	UTSW	4	113,799,793 (GRCm39)	missense	possibly damaging	0.56
R7028:Skint5	UTSW	4	113,798,036 (GRCm39)	missense	probably damaging	1.00
R7071:Skint5	UTSW	4	113,636,277 (GRCm39)	missense	unknown
R7142:Skint5	UTSW	4	113,428,791 (GRCm39)	missense	unknown
R7197:Skint5	UTSW	4	113,437,679 (GRCm39)	critical splice donor site	probably null
R7208:Skint5	UTSW	4	113,396,536 (GRCm39)	missense	unknown
R7297:Skint5	UTSW	4	113,400,131 (GRCm39)	missense	unknown
R7470:Skint5	UTSW	4	113,743,000 (GRCm39)	missense	unknown
R7470:Skint5	UTSW	4	113,614,128 (GRCm39)	missense	unknown
R7500:Skint5	UTSW	4	113,417,035 (GRCm39)	missense	unknown
R7547:Skint5	UTSW	4	113,483,785 (GRCm39)	missense	unknown
R7556:Skint5	UTSW	4	113,425,162 (GRCm39)	missense	unknown
R7619:Skint5	UTSW	4	113,381,305 (GRCm39)	missense	unknown
R7629:Skint5	UTSW	4	113,799,857 (GRCm39)	missense	probably damaging	1.00
R7646:Skint5	UTSW	4	113,620,739 (GRCm39)	critical splice acceptor site	probably null
R7725:Skint5	UTSW	4	113,685,099 (GRCm39)	missense	unknown
R7788:Skint5	UTSW	4	113,403,715 (GRCm39)	missense	unknown
R7818:Skint5	UTSW	4	113,799,923 (GRCm39)	missense	possibly damaging	0.56
R7819:Skint5	UTSW	4	113,417,032 (GRCm39)	missense	unknown
R7958:Skint5	UTSW	4	113,480,980 (GRCm39)	missense	unknown
R8150:Skint5	UTSW	4	113,798,087 (GRCm39)	missense	probably benign	0.21
R8214:Skint5	UTSW	4	113,662,139 (GRCm39)	splice site	probably null
R8413:Skint5	UTSW	4	113,572,900 (GRCm39)	missense	unknown
R8420:Skint5	UTSW	4	113,437,679 (GRCm39)	critical splice donor site	probably null
R8459:Skint5	UTSW	4	113,703,481 (GRCm39)	nonsense	probably null
R8703:Skint5	UTSW	4	113,733,207 (GRCm39)	missense	unknown
R8710:Skint5	UTSW	4	113,483,787 (GRCm39)	missense	unknown
R8927:Skint5	UTSW	4	113,341,099 (GRCm39)	missense	probably benign	0.23
R8928:Skint5	UTSW	4	113,341,099 (GRCm39)	missense	probably benign	0.23
R8950:Skint5	UTSW	4	113,374,349 (GRCm39)	missense	unknown
R9047:Skint5	UTSW	4	113,512,919 (GRCm39)	missense	unknown
R9053:Skint5	UTSW	4	113,403,684 (GRCm39)	missense	unknown
R9216:Skint5	UTSW	4	113,392,955 (GRCm39)	missense	unknown
R9441:Skint5	UTSW	4	113,347,848 (GRCm39)	missense	unknown
R9551:Skint5	UTSW	4	113,798,052 (GRCm39)	missense	possibly damaging	0.93
R9552:Skint5	UTSW	4	113,798,052 (GRCm39)	missense	possibly damaging	0.93
R9750:Skint5	UTSW	4	113,727,866 (GRCm39)	missense	unknown
X0028:Skint5	UTSW	4	113,548,306 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCTTTCAATTTGGCCATGCTATATT -3'
(R):5'- AGTCTGCACTCTCACCTGCA -3'

Sequencing Primer
(F):5'- TCCGATGCCATTTAGGTCG -3'
(R):5'- CACAGACTAATCTCTGAGGGATCTG -3'

Posted On

2019-05-13