Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02887:Skint7'

363776

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Skint7

Ensembl Gene

ENSMUSG00000049214

Gene Name

selection and upkeep of intraepithelial T cells 7

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02887

Quality Score

Status

Chromosome

Chromosomal Location

111972923-111988223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111982178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 223 (V223A)

Ref Sequence

ENSEMBL: ENSMUSP00000127347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055014] [ENSMUST00000106568] [ENSMUST00000163281]

AlphaFold

A7XV04

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055014
AA Change: V223A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000054822
Gene: ENSMUSG00000049214
AA Change: V223A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	34	141	7.82e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106568
AA Change: V223A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214
AA Change: V223A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	34	141	7.82e-6	SMART
transmembrane domain	250	272	N/A	INTRINSIC
transmembrane domain	287	309	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142162

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163281
AA Change: V223A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214
AA Change: V223A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	34	141	7.82e-6	SMART
transmembrane domain	250	272	N/A	INTRINSIC
transmembrane domain	285	307	N/A	INTRINSIC
transmembrane domain	327	349	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,258,885	Y69H	probably damaging	Het
Afap1l2	A	T	19: 56,920,563	S310R	probably damaging	Het
Aldh7a1	A	G	18: 56,542,216		probably benign	Het
Anxa8	T	A	14: 34,096,524		probably null	Het
Ap1ar	T	C	3: 127,808,543	E282G	probably damaging	Het
Arl6ip6	T	G	2: 53,202,927	S155A	probably benign	Het
Armc9	T	C	1: 86,164,835	F107S	probably damaging	Het
Ash1l	C	A	3: 88,984,181	D1122E	probably benign	Het
Atp2b4	T	A	1: 133,728,774	I713F	probably damaging	Het
BC005624	A	C	2: 30,973,305		probably benign	Het
Calcrl	T	C	2: 84,339,242	D365G	probably benign	Het
Ccdc110	A	G	8: 45,943,184	N704S	probably benign	Het
Ccr10	G	T	11: 101,174,666	L13I	probably benign	Het
Cfap52	A	G	11: 67,953,515	Y125H	probably damaging	Het
Cnr2	C	A	4: 135,917,625	T338K	possibly damaging	Het
Cntn2	T	A	1: 132,516,570	D935V	probably damaging	Het
Cog7	T	C	7: 121,943,844	K448R	possibly damaging	Het
Csnk1g2	G	A	10: 80,638,535	D197N	probably damaging	Het
Cyp2e1	T	A	7: 140,763,911	S21T	probably damaging	Het
Dcaf11	T	C	14: 55,564,135	F187L	probably damaging	Het
Dmd	T	A	X: 83,878,504	F1460Y	probably benign	Het
Dnah11	G	A	12: 117,911,040	A4030V	probably damaging	Het
Dnah7a	A	G	1: 53,522,360	V2046A	possibly damaging	Het
Dnajc6	T	C	4: 101,639,300	I820T	probably damaging	Het
Dsel	T	C	1: 111,860,732	D691G	possibly damaging	Het
Fbp1	T	A	13: 62,869,080	M203L	probably benign	Het
Fndc1	T	C	17: 7,773,638	T409A	unknown	Het
Golgb1	T	G	16: 36,925,849	L2930R	probably damaging	Het
Htr2a	A	G	14: 74,645,143	T190A	probably benign	Het
Klra4	C	T	6: 130,044,070	C254Y	probably damaging	Het
Large1	A	T	8: 73,132,039	V67E	probably benign	Het
Lins1	T	C	7: 66,714,183	S609P	probably damaging	Het
Magi3	T	C	3: 104,095,157	E156G	probably damaging	Het
Mdh1b	A	G	1: 63,715,364		probably benign	Het
Mfsd6	T	C	1: 52,708,878	D276G	probably benign	Het
Myh9	T	A	15: 77,796,020	K185*	probably null	Het
Myof	T	C	19: 37,920,779		probably null	Het
Naip2	T	G	13: 100,161,512	Y672S	possibly damaging	Het
Nbeal1	A	G	1: 60,287,444		probably benign	Het
Nbeal2	T	A	9: 110,628,276	H2273L	probably damaging	Het
Neb	T	C	2: 52,200,721	K1346E	possibly damaging	Het
Nfatc2	T	C	2: 168,504,450	D908G	probably damaging	Het
Nlgn2	T	C	11: 69,827,254	N375S	probably benign	Het
Nova1	G	T	12: 46,720,722	Q139K	unknown	Het
Olfr328	A	G	11: 58,552,161	L26P	probably damaging	Het
Olfr775	T	A	10: 129,250,925	Y130*	probably null	Het
Olfr978	T	A	9: 39,993,813	M1K	probably null	Het
Opa3	A	T	7: 19,228,582	Q47L	probably damaging	Het
Pacs1	A	T	19: 5,135,110		probably benign	Het
Pappa2	T	A	1: 158,782,259	H1544L	probably damaging	Het
Pax8	A	G	2: 24,444,615	S48P	probably damaging	Het
Pdilt	T	C	7: 119,498,049	N70S	possibly damaging	Het
Poldip3	T	C	15: 83,129,268		probably benign	Het
Ppp6r1	T	A	7: 4,642,212	I80F	probably damaging	Het
Pycr2	T	A	1: 180,904,739		probably null	Het
Rapgef2	C	T	3: 79,068,880		probably benign	Het
Rbm44	T	A	1: 91,153,180	D363E	probably damaging	Het
Rnf213	A	T	11: 119,427,510	I1046F	probably damaging	Het
Ryr2	A	G	13: 11,591,269	S4476P	probably damaging	Het
Scara5	G	A	14: 65,762,829	D483N	unknown	Het
Scmh1	T	A	4: 120,468,389	F101Y	probably damaging	Het
Sgo2a	T	A	1: 58,016,352	V565E	probably damaging	Het
Simc1	T	C	13: 54,525,258	M473T	probably benign	Het
Skint6	T	A	4: 113,238,184	R93*	probably null	Het
Slc25a2	T	C	18: 37,637,886	I197V	probably benign	Het
Slit2	A	G	5: 48,217,474	T361A	probably benign	Het
Sugp1	G	A	8: 70,070,126	G492D	probably damaging	Het
Svep1	C	T	4: 58,145,301	G388D	probably damaging	Het
Tbpl2	G	T	2: 24,093,876	A183E	probably damaging	Het
Tcerg1l	G	T	7: 138,229,890	P453T	probably damaging	Het
Tdpoz2	T	C	3: 93,651,739	T309A	probably benign	Het
Thbs4	T	A	13: 92,790,798	Y61F	probably benign	Het
Tmem117	C	A	15: 95,094,775	P439T	probably damaging	Het
Tmem151a	A	G	19: 5,082,965	V71A	probably benign	Het
Tmem268	G	T	4: 63,568,454		probably benign	Het
Tmem43	T	A	6: 91,477,374	Y48N	possibly damaging	Het
Tmigd1	T	C	11: 76,913,986	V217A	probably benign	Het
Tmprss11g	A	T	5: 86,497,329		probably benign	Het
Tsn	T	C	1: 118,309,821	I38V	probably benign	Het
Ttc41	A	T	10: 86,733,654	Y632F	probably damaging	Het
Vmn2r117	C	T	17: 23,475,578		probably benign	Het
Vmn2r12	A	T	5: 109,090,485	I463N	probably benign	Het
Wdsub1	T	A	2: 59,852,832	N466I	probably damaging	Het
Zdhhc21	A	T	4: 82,844,190	I56N	probably benign	Het
Zfand4	A	G	6: 116,273,656	T16A	possibly damaging	Het
Zmym4	T	C	4: 126,948,475	E15G	probably damaging	Het

Other mutations in Skint7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Skint7	APN	4	111982205	missense	probably damaging	1.00
IGL01697:Skint7	APN	4	111980457	splice site	probably benign
IGL01961:Skint7	APN	4	111977463	missense	probably benign	0.01
IGL02232:Skint7	APN	4	111982028	missense	possibly damaging	0.70
IGL02675:Skint7	APN	4	111981981	missense	probably benign	0.03
IGL02729:Skint7	APN	4	111982170	missense	probably benign	0.01
Fraction	UTSW	4	111980178	missense	probably damaging	0.99
ratio	UTSW	4	111984876	splice site	probably null
R0315:Skint7	UTSW	4	111988118	missense	possibly damaging	0.61
R0401:Skint7	UTSW	4	111980362	missense	probably damaging	0.96
R0545:Skint7	UTSW	4	111980198	missense	probably benign	0.08
R0607:Skint7	UTSW	4	111977459	nonsense	probably null
R0685:Skint7	UTSW	4	111980345	missense	possibly damaging	0.71
R1130:Skint7	UTSW	4	111984158	missense	probably benign	0.23
R1340:Skint7	UTSW	4	111980219	missense	probably damaging	1.00
R1350:Skint7	UTSW	4	111980324	missense	possibly damaging	0.78
R1764:Skint7	UTSW	4	111982073	missense	probably benign	0.00
R1804:Skint7	UTSW	4	111982012	missense	probably damaging	1.00
R2005:Skint7	UTSW	4	111984850	missense	probably benign	0.13
R2084:Skint7	UTSW	4	111980178	missense	probably damaging	0.99
R4651:Skint7	UTSW	4	111982112	missense	probably damaging	1.00
R4652:Skint7	UTSW	4	111982112	missense	probably damaging	1.00
R5070:Skint7	UTSW	4	111984134	missense	probably damaging	1.00
R5088:Skint7	UTSW	4	111980430	missense	possibly damaging	0.78
R5096:Skint7	UTSW	4	111981955	missense	probably damaging	0.98
R5311:Skint7	UTSW	4	111980304	missense	probably damaging	0.99
R5524:Skint7	UTSW	4	111980349	missense	probably damaging	1.00
R5777:Skint7	UTSW	4	111988092	missense	probably benign	0.29
R6208:Skint7	UTSW	4	111984876	splice site	probably null
R6369:Skint7	UTSW	4	111980293	missense	probably benign	0.16
R6752:Skint7	UTSW	4	111980266	missense	probably benign	0.21
R7396:Skint7	UTSW	4	111988127	missense	probably benign
R7633:Skint7	UTSW	4	111984140	missense	probably benign	0.27
R7840:Skint7	UTSW	4	111982226	missense	probably benign
R8054:Skint7	UTSW	4	111982229	missense	probably benign
R8253:Skint7	UTSW	4	111977478	nonsense	probably null
R8840:Skint7	UTSW	4	111987986	missense	probably benign
R8946:Skint7	UTSW	4	111982001	missense	possibly damaging	0.52
Z1176:Skint7	UTSW	4	111980129	missense	probably benign	0.01
Z1177:Skint7	UTSW	4	111980235	missense	probably damaging	1.00

Posted On

2015-12-18