Mutagenetix > Incidental Mutation

Incidental Mutation 'R3837:Skint5'

275686

Institutional Source

Beutler Lab

Gene Symbol

Skint5

Ensembl Gene

ENSMUSG00000078598

Gene Name

selection and upkeep of intraepithelial T cells 5

Synonyms

OTTMUSG00000008560

MMRRC Submission

040778-MU

Accession Numbers

Essential gene?

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

Stock #

R3837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113335088-113856700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113797938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 215 (M215K)

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

probably damaging
Transcript: ENSMUST00000169631
AA Change: M215K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: M215K

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: M215K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: M215K

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: M201K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130639
Gene: ENSMUSG00000078598
AA Change: M201K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
4930474N05Rik	G	A	14: 35,817,435 (GRCm39)	G112S	probably benign	Het
Adam24	T	C	8: 41,133,584 (GRCm39)	S351P	probably benign	Het
Amigo2	T	C	15: 97,143,196 (GRCm39)	I409V	probably damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
Atg10	A	T	13: 91,085,499 (GRCm39)	I150K	probably damaging	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Cdc20b	T	C	13: 113,220,542 (GRCm39)	W432R	probably damaging	Het
Cdh9	G	T	15: 16,823,524 (GRCm39)	E169*	probably null	Het
Col28a1	C	T	6: 8,014,601 (GRCm39)	V935M	possibly damaging	Het
Col6a3	T	C	1: 90,707,803 (GRCm39)	N1948D	unknown	Het
Dnajb2	G	A	1: 75,218,124 (GRCm39)		probably null	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Fn1	A	T	1: 71,692,314 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,228,608 (GRCm39)	T1708A	probably benign	Het
Gcnt4	A	T	13: 97,083,522 (GRCm39)	R273*	probably null	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Glra2	C	T	X: 164,072,612 (GRCm39)	V85I	probably benign	Het
Gm11562	A	G	11: 99,511,026 (GRCm39)	I58T	possibly damaging	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn2	T	C	2: 31,303,419 (GRCm39)	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,795,597 (GRCm39)	I324T	probably benign	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Lamtor1	T	C	7: 101,559,315 (GRCm39)		probably null	Het
Lrrd1	A	T	5: 3,900,204 (GRCm39)	I170L	possibly damaging	Het
Magi2	G	A	5: 20,420,466 (GRCm39)	D301N	probably benign	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mmrn1	G	A	6: 60,921,831 (GRCm39)	S96N	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msh3	C	A	13: 92,491,366 (GRCm39)	G15C	probably damaging	Het
Myl12b	C	A	17: 71,281,480 (GRCm39)	E120*	probably null	Het
Myo3a	T	G	2: 22,455,121 (GRCm39)		probably benign	Het
Nagk	A	T	6: 83,778,139 (GRCm39)	H245L	possibly damaging	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nlrc5	A	G	8: 95,237,929 (GRCm39)		probably benign	Het
Ogfrl1	G	A	1: 23,409,041 (GRCm39)	T395I	probably benign	Het
Polr1b	T	A	2: 128,961,027 (GRCm39)	F662Y	possibly damaging	Het
Rrbp1	T	C	2: 143,831,478 (GRCm39)	K230E	probably damaging	Het
Shld2	A	G	14: 33,971,142 (GRCm39)	V581A	probably damaging	Het
Skap2	C	T	6: 51,886,279 (GRCm39)		probably null	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Tdp1	A	G	12: 99,860,967 (GRCm39)		probably null	Het
Tlr3	G	A	8: 45,849,976 (GRCm39)	L898F	probably damaging	Het
Tmem210	A	G	2: 25,178,444 (GRCm39)	E35G	possibly damaging	Het
Tpbg	T	C	9: 85,725,167 (GRCm39)		probably benign	Het
Tubb2a	G	T	13: 34,259,294 (GRCm39)	N165K	probably benign	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn1r33	A	T	6: 66,588,701 (GRCm39)	D284E	possibly damaging	Het
Wnk1	T	C	6: 119,927,004 (GRCm39)	E1265G	probably damaging	Het
Yme1l1	A	T	2: 23,081,092 (GRCm39)	T455S	possibly damaging	Het
Zfp111	T	C	7: 23,898,891 (GRCm39)	N241S	possibly 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
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
R7043:Skint5	UTSW	4	113,574,304 (GRCm39)	missense	unknown
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'- GCTAAACTAAGTAATGAGTAAGGCC -3'
(R):5'- CAAGCTCAGACATACAGATTCTTATGC -3'

Sequencing Primer
(F):5'- GTCTTTAGAAACCAAGTCAAGATGG -3'
(R):5'- GACATACAGATTCTTATGCATCCC -3'

Posted On

2015-04-06