Mutagenetix > Incidental Mutation

Incidental Mutation 'R7788:Skint5'

599649

Institutional Source

Beutler Lab

Gene Symbol

Skint5

Ensembl Gene

ENSMUSG00000078598

Gene Name

selection and upkeep of intraepithelial T cells 5

Synonyms

OTTMUSG00000008560

MMRRC Submission

045844-MU

Accession Numbers

Essential gene?

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

Stock #

R7788 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113335088-113856700 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 113403715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 1169 (D1169A)

Ref Sequence

ENSEMBL: ENSMUSP00000132470 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000169631
AA Change: D1169A

SMART Domains

Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: D1169A

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: D1169A

SMART Domains

Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: D1169A

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	A	T	14: 68,750,094 (GRCm39)	V442E	possibly damaging	Het
Adgrv1	A	T	13: 81,721,433 (GRCm39)	V715D	probably damaging	Het
Aldh1l1	A	C	6: 90,546,894 (GRCm39)	D399A	probably benign	Het
Ankrd23	T	C	1: 36,570,808 (GRCm39)	N274S	probably damaging	Het
Aopep	A	T	13: 63,304,407 (GRCm39)	H473L	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Arpc4	A	T	6: 113,362,565 (GRCm39)	M149L	probably benign	Het
Bdp1	T	C	13: 100,191,759 (GRCm39)	T1407A	possibly damaging	Het
Calml3	A	T	13: 3,854,121 (GRCm39)	I28N	probably damaging	Het
Cdhr3	A	G	12: 33,110,319 (GRCm39)	S322P	probably damaging	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Cntn5	A	G	9: 9,704,934 (GRCm39)	S622P	probably benign	Het
Col22a1	A	G	15: 71,824,166 (GRCm39)		probably null	Het
Csf2rb2	A	T	15: 78,177,041 (GRCm39)	I143N	probably benign	Het
Cwh43	T	C	5: 73,572,377 (GRCm39)	L205P	probably damaging	Het
Dennd5b	T	C	6: 148,970,064 (GRCm39)	T52A	probably benign	Het
Dhx40	A	G	11: 86,666,502 (GRCm39)	I597T	possibly damaging	Het
Dnajc21	A	G	15: 10,460,133 (GRCm39)	L268P	probably damaging	Het
Dzip1	A	T	14: 119,120,805 (GRCm39)	D717E	probably benign	Het
Elmo3	A	G	8: 106,034,876 (GRCm39)	N389D	probably damaging	Het
Evi2a	T	C	11: 79,418,768 (GRCm39)	E14G	unknown	Het
Fam149a	T	A	8: 45,834,554 (GRCm39)	R82W	probably damaging	Het
Farp1	A	T	14: 121,513,665 (GRCm39)	E820V	probably benign	Het
Fgd5	T	A	6: 91,965,440 (GRCm39)	S400T	possibly damaging	Het
Flnc	G	A	6: 29,456,443 (GRCm39)	V2214I	possibly damaging	Het
Galnt4	C	A	10: 98,944,975 (GRCm39)	N233K	possibly damaging	Het
Gbp5	A	G	3: 142,208,841 (GRCm39)	Y128C	probably damaging	Het
Gm4871	G	A	5: 144,969,420 (GRCm39)	T33I	probably benign	Het
Gm5592	T	C	7: 40,936,118 (GRCm39)	S207P	probably benign	Het
Gtf2ird1	A	T	5: 134,445,985 (GRCm39)	C15*	probably null	Het
Ido2	T	A	8: 25,037,242 (GRCm39)	I155F	probably damaging	Het
Ifi27l2b	A	T	12: 103,423,268 (GRCm39)		probably null	Het
Il15ra	C	T	2: 11,728,404 (GRCm39)	T49I	probably damaging	Het
Itpr3	T	A	17: 27,337,571 (GRCm39)	C2460*	probably null	Het
Kcnj11	T	C	7: 45,749,179 (GRCm39)	N48S	probably damaging	Het
Lmo7	A	C	14: 102,136,012 (GRCm39)	N695T	possibly damaging	Het
Mmp15	C	A	8: 96,094,776 (GRCm39)	H217N	probably damaging	Het
Mtcl2	C	T	2: 156,869,504 (GRCm39)	A1044T	probably benign	Het
Muc21	A	T	17: 35,929,798 (GRCm39)	S1463T	unknown	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Myo5c	A	T	9: 75,186,627 (GRCm39)	D991V	probably damaging	Het
Nfkbid	T	A	7: 30,126,603 (GRCm39)	N396K	probably damaging	Het
Oas1c	A	G	5: 120,939,107 (GRCm39)	F361L	probably benign	Het
Or10aa1	A	G	1: 173,869,650 (GRCm39)	I45V	probably benign	Het
Or1e1b-ps1	A	T	11: 73,845,948 (GRCm39)	Y144F	probably benign	Het
Osbpl9	T	C	4: 108,919,691 (GRCm39)	K606E	probably benign	Het
Pkp2	C	A	16: 16,043,272 (GRCm39)	L111I	probably benign	Het
Pogz	A	G	3: 94,782,544 (GRCm39)	Y635C	probably damaging	Het
Prdx2	A	G	8: 85,698,303 (GRCm39)	T165A	probably benign	Het
Ptcd3	T	C	6: 71,862,541 (GRCm39)	I465V	probably benign	Het
Ptprd	G	A	4: 75,916,841 (GRCm39)	T770I	probably damaging	Het
Rapgef6	A	G	11: 54,585,225 (GRCm39)	Y1541C	probably damaging	Het
Rilpl1	A	T	5: 124,634,200 (GRCm39)		probably null	Het
Rimbp3	T	A	16: 17,030,568 (GRCm39)	Y1331N	probably benign	Het
Sav1	T	C	12: 70,030,995 (GRCm39)	R176G	probably damaging	Het
Sirt5	A	G	13: 43,536,623 (GRCm39)	H219R	probably benign	Het
Slfn9	G	T	11: 82,873,467 (GRCm39)	Q479K	possibly damaging	Het
Spata31f1e	A	T	4: 42,793,546 (GRCm39)	H195Q	possibly damaging	Het
Susd4	T	C	1: 182,722,767 (GRCm39)	I483T	possibly damaging	Het
Tmem156	C	T	5: 65,232,912 (GRCm39)	V217I	possibly damaging	Het
Tmem79	A	G	3: 88,239,949 (GRCm39)	Y254H	probably benign	Het
Tmprss2	T	A	16: 97,377,429 (GRCm39)	K223*	probably null	Het
Trav3-1	T	C	14: 52,818,581 (GRCm39)	V85A	probably damaging	Het
Ttn	T	C	2: 76,716,100 (GRCm39)		probably null	Het
Vmn2r22	T	C	6: 123,614,559 (GRCm39)	I344V	not run	Het
Vps13c	A	T	9: 67,847,765 (GRCm39)	M2176L	probably benign	Het
Wdfy3	A	T	5: 101,996,223 (GRCm39)	V3213D	probably damaging	Het
Zbtb21	G	A	16: 97,752,654 (GRCm39)	T543M	possibly damaging	Het
Zc3hav1	A	T	6: 38,309,691 (GRCm39)	V377D	probably benign	Het
Zswim3	T	C	2: 164,661,699 (GRCm39)	C60R	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
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
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'- AACCTTTTAATGGGCCACACTGAAT -3'
(R):5'- GTTTTCCTGCCATCAGTAAATCA -3'

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

Posted On

2019-11-26