Mutagenetix > Incidental Mutation

Incidental Mutation 'R9047:Skint5'

688099

Institutional Source

Beutler Lab

Gene Symbol

Skint5

Ensembl Gene

ENSMUSG00000078598

Gene Name

selection and upkeep of intraepithelial T cells 5

Synonyms

OTTMUSG00000008560

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R9047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113477891-113999503 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113655722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 871 (N871I)

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: N871I

SMART Domains

Protein: ENSMUSP00000132470
Gene: ENSMUSG00000078598
AA Change: N871I

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: N871I

SMART Domains

Protein: ENSMUSP00000129582
Gene: ENSMUSG00000078598
AA Change: N871I

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: 99.9%
20x: 99.7%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,939,093	S156T	probably damaging	Het
4930522L14Rik	A	G	5: 109,737,554	L146P		Het
Adra1a	T	A	14: 66,638,185	M203K	probably damaging	Het
Adtrp	G	A	13: 41,816,160	T89I	possibly damaging	Het
Akt3	G	T	1: 177,059,389	T298K	probably damaging	Het
Aldh4a1	G	T	4: 139,623,200		probably benign	Het
Aplf	T	C	6: 87,663,797	T77A	possibly damaging	Het
Arid4b	T	A	13: 14,181,230	W618R	probably damaging	Het
Asxl3	C	A	18: 22,452,408	P130Q	probably damaging	Het
Asxl3	A	G	18: 22,452,414	K132R	probably damaging	Het
Atp11a	T	C	8: 12,828,483	M353T	probably damaging	Het
Atp11b	A	G	3: 35,806,889	D375G	probably damaging	Het
BC052040	A	G	2: 115,777,023	T286A	probably benign	Het
Cage1	C	T	13: 38,017,362	A656T	possibly damaging	Het
Casz1	C	T	4: 148,939,040	P801S	probably damaging	Het
Ccdc130	C	T	8: 84,263,898	R35Q	probably damaging	Het
Ccdc144b	A	G	3: 36,032,884	I187T	probably benign	Het
Cdc14b	A	T	13: 64,220,944		probably benign	Het
Cox6b2	A	G	7: 4,752,087	F63L	probably benign	Het
Cramp1l	A	C	17: 24,979,629	V773G	possibly damaging	Het
Cul7	A	G	17: 46,654,522	E542G	probably benign	Het
Cyp2c55	T	C	19: 39,031,346	Y243H	possibly damaging	Het
Dnah9	C	A	11: 66,072,099	D1797Y	possibly damaging	Het
Dpep2	C	A	8: 105,989,312	A298S		Het
Dvl3	G	A	16: 20,524,076		probably null	Het
Enpp3	T	C	10: 24,798,274	D376G	possibly damaging	Het
Ffar4	T	C	19: 38,113,784	I289T	possibly damaging	Het
Gm3417	A	G	17: 14,967,680	Y111H	probably damaging	Het
Gm5565	T	C	5: 146,158,039	Y299C	probably damaging	Het
Gm8765	C	T	13: 50,702,092	R589*	probably null	Het
Gpat3	A	T	5: 100,846,922	M39L	probably benign	Het
Gpr153	T	C	4: 152,280,207	L240P	probably damaging	Het
Gpr182	T	C	10: 127,750,648	I145V	probably benign	Het
H2-Q4	A	T	17: 35,379,993	T80S	possibly damaging	Het
Hnf1a	T	A	5: 114,950,823	T545S	probably benign	Het
Kif5b	A	C	18: 6,208,261	F946V	probably benign	Het
Krtap16-1	C	T	11: 99,986,341	C79Y	probably damaging	Het
Lama2	A	G	10: 27,006,701	V2622A	possibly damaging	Het
Lrrc37a	T	A	11: 103,500,549	Q1350L	probably damaging	Het
Map2k2	G	A	10: 81,119,664	V294I	probably benign	Het
Mtus1	G	A	8: 41,083,723	H319Y	possibly damaging	Het
Ncdn	T	C	4: 126,750,828	D67G	possibly damaging	Het
Ngef	G	A	1: 87,503,288	P269L	probably damaging	Het
Nlrp9b	A	G	7: 20,023,476	I213V	possibly damaging	Het
Nyap2	G	A	1: 81,298,088	R649H	possibly damaging	Het
Olfr1165-ps	T	G	2: 88,101,072	D305A	unknown	Het
Olfr1200	C	A	2: 88,767,955	R120L	probably damaging	Het
Olfr304	A	G	7: 86,386,040	S207P	probably benign	Het
Pi4kb	T	A	3: 94,993,117	L354Q	probably damaging	Het
Plekhh2	T	C	17: 84,590,762	S944P	probably damaging	Het
Podn	C	T	4: 108,021,546	V375M	probably damaging	Het
Pramef8	C	A	4: 143,419,103	Q381K	possibly damaging	Het
Psmb2	T	A	4: 126,706,102	H110Q	probably benign	Het
Rasip1	A	G	7: 45,632,642	E523G	possibly damaging	Het
Ripor1	T	G	8: 105,616,151	C219G	probably damaging	Het
Rps6ka2	G	C	17: 7,300,279	V714L	probably damaging	Het
Sass6	G	T	3: 116,613,998	L254F	probably damaging	Het
Scarf2	G	A	16: 17,806,406	G525E	probably damaging	Het
Sh3d21	T	A	4: 126,152,338		probably benign	Het
Sh3tc1	C	A	5: 35,706,483	A787S	probably benign	Het
Slc48a1	T	G	15: 97,789,952	D62E	probably damaging	Het
Slc6a21	G	A	7: 45,286,974	M157I		Het
Slurp2	T	C	15: 74,743,112	D60G	probably benign	Het
Sparcl1	G	T	5: 104,093,113	N148K	possibly damaging	Het
Spsb2	T	A	6: 124,810,013	N236K	probably benign	Het
Sptb	G	T	12: 76,632,534		probably benign	Het
Ssc4d	A	T	5: 135,961,176	C41S	probably damaging	Het
Tecta	A	T	9: 42,375,079	D760E	probably benign	Het
Tesmin	G	T	19: 3,389,431		probably benign	Het
Tiam1	A	C	16: 89,804,888		probably benign	Het
Tldc1	T	C	8: 119,762,311	N411S	probably benign	Het
Tnrc6a	T	C	7: 123,179,723	L1219S	probably damaging	Het
Tram1	T	G	1: 13,569,606	I306L	probably benign	Het
Trank1	A	C	9: 111,362,432	D503A	probably damaging	Het
Ttc21b	T	C	2: 66,201,252	H1044R		Het
Ubac2	T	C	14: 121,908,214	F95L	probably benign	Het
Vmn2r91	A	T	17: 18,106,034	M194L	probably benign	Het
Zdhhc1	G	T	8: 105,478,901	H90Q	probably damaging	Het
Zfp169	C	T	13: 48,498,816	V42I	probably damaging	Het
Zfp81	A	G	17: 33,334,413	C476R	probably damaging	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
IGL02190:Skint5	APN	4	113940765	missense	possibly damaging	0.93
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
R9053:Skint5	UTSW	4	113546487	missense	unknown
R9216:Skint5	UTSW	4	113535758	missense	unknown
R9441:Skint5	UTSW	4	113490651	missense	unknown
R9551:Skint5	UTSW	4	113940855	missense	possibly damaging	0.93
R9552:Skint5	UTSW	4	113940855	missense	possibly damaging	0.93
R9750:Skint5	UTSW	4	113870669	missense	unknown
X0028:Skint5	UTSW	4	113691109	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAAATTGTCCTGTACTTTCTCTCTGA -3'
(R):5'- TTAGCAAGGCATCTCTAAGGACAG -3'

Sequencing Primer
(F):5'- TGAGCAGCTTTTTCCTAGAGAGAGAC -3'
(R):5'- AAGGCATCTCTAAGGACAGTGGTTTC -3'

Posted On

2021-11-19