Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01961:Skint7'

182405

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

C130057D23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01961

Quality Score

Status

Chromosome

Chromosomal Location

111830120-111845420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111834660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 15 (Y15H)

Ref Sequence

ENSEMBL: ENSMUSP00000127347 (fasta)

Gene Model

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

AlphaFold

A7XV04

Predicted Effect

probably benign
Transcript: ENSMUST00000055014
AA Change: Y15H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000054822
Gene: ENSMUSG00000049214
AA Change: Y15H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106568
AA Change: Y15H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000102178
Gene: ENSMUSG00000049214
AA Change: Y15H

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

probably benign
Transcript: ENSMUST00000163281
AA Change: Y15H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000127347
Gene: ENSMUSG00000049214
AA Change: Y15H

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Catsperg2	A	G	7: 29,421,097 (GRCm39)		probably benign	Het
Gm9958	C	A	5: 90,515,837 (GRCm39)		probably benign	Het
Kdelr2	T	C	5: 143,406,556 (GRCm39)	V202A	probably benign	Het
Mideas	T	C	12: 84,220,388 (GRCm39)	K189E	probably damaging	Het
Mlh3	T	C	12: 85,313,118 (GRCm39)	R1023G	probably benign	Het
Pcdhb7	A	G	18: 37,475,526 (GRCm39)	K221E	probably damaging	Het
Ptprq	A	G	10: 107,479,515 (GRCm39)	S1171P	probably damaging	Het
Sez6l	G	A	5: 112,619,597 (GRCm39)	T345M	probably damaging	Het
Strip2	T	C	6: 29,928,426 (GRCm39)		probably benign	Het
Syne1	C	A	10: 4,993,723 (GRCm39)	R8339M	possibly damaging	Het
Tmtc3	A	T	10: 100,282,893 (GRCm39)	D887E	probably benign	Het
Ush1g	A	G	11: 115,209,361 (GRCm39)	S278P	probably benign	Het
Wars1	A	T	12: 108,832,096 (GRCm39)	M323K	probably damaging	Het
Zc3h11a	G	A	1: 133,554,805 (GRCm39)	R392W	probably benign	Het
Zswim8	T	C	14: 20,762,402 (GRCm39)	F305L	possibly damaging	Het

Other mutations in Skint7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:Skint7	APN	4	111,839,402 (GRCm39)	missense	probably damaging	1.00
IGL01697:Skint7	APN	4	111,837,654 (GRCm39)	splice site	probably benign
IGL02232:Skint7	APN	4	111,839,225 (GRCm39)	missense	possibly damaging	0.70
IGL02675:Skint7	APN	4	111,839,178 (GRCm39)	missense	probably benign	0.03
IGL02729:Skint7	APN	4	111,839,367 (GRCm39)	missense	probably benign	0.01
IGL02887:Skint7	APN	4	111,839,375 (GRCm39)	missense	possibly damaging	0.70
Fraction	UTSW	4	111,837,375 (GRCm39)	missense	probably damaging	0.99
ratio	UTSW	4	111,842,073 (GRCm39)	splice site	probably null
R0315:Skint7	UTSW	4	111,845,315 (GRCm39)	missense	possibly damaging	0.61
R0401:Skint7	UTSW	4	111,837,559 (GRCm39)	missense	probably damaging	0.96
R0545:Skint7	UTSW	4	111,837,395 (GRCm39)	missense	probably benign	0.08
R0607:Skint7	UTSW	4	111,834,656 (GRCm39)	nonsense	probably null
R0685:Skint7	UTSW	4	111,837,542 (GRCm39)	missense	possibly damaging	0.71
R1130:Skint7	UTSW	4	111,841,355 (GRCm39)	missense	probably benign	0.23
R1340:Skint7	UTSW	4	111,837,416 (GRCm39)	missense	probably damaging	1.00
R1350:Skint7	UTSW	4	111,837,521 (GRCm39)	missense	possibly damaging	0.78
R1764:Skint7	UTSW	4	111,839,270 (GRCm39)	missense	probably benign	0.00
R1804:Skint7	UTSW	4	111,839,209 (GRCm39)	missense	probably damaging	1.00
R2005:Skint7	UTSW	4	111,842,047 (GRCm39)	missense	probably benign	0.13
R2084:Skint7	UTSW	4	111,837,375 (GRCm39)	missense	probably damaging	0.99
R4651:Skint7	UTSW	4	111,839,309 (GRCm39)	missense	probably damaging	1.00
R4652:Skint7	UTSW	4	111,839,309 (GRCm39)	missense	probably damaging	1.00
R5070:Skint7	UTSW	4	111,841,331 (GRCm39)	missense	probably damaging	1.00
R5088:Skint7	UTSW	4	111,837,627 (GRCm39)	missense	possibly damaging	0.78
R5096:Skint7	UTSW	4	111,839,152 (GRCm39)	missense	probably damaging	0.98
R5311:Skint7	UTSW	4	111,837,501 (GRCm39)	missense	probably damaging	0.99
R5524:Skint7	UTSW	4	111,837,546 (GRCm39)	missense	probably damaging	1.00
R5777:Skint7	UTSW	4	111,845,289 (GRCm39)	missense	probably benign	0.29
R6208:Skint7	UTSW	4	111,842,073 (GRCm39)	splice site	probably null
R6369:Skint7	UTSW	4	111,837,490 (GRCm39)	missense	probably benign	0.16
R6752:Skint7	UTSW	4	111,837,463 (GRCm39)	missense	probably benign	0.21
R7396:Skint7	UTSW	4	111,845,324 (GRCm39)	missense	probably benign
R7633:Skint7	UTSW	4	111,841,337 (GRCm39)	missense	probably benign	0.27
R7840:Skint7	UTSW	4	111,839,423 (GRCm39)	missense	probably benign
R8054:Skint7	UTSW	4	111,839,426 (GRCm39)	missense	probably benign
R8253:Skint7	UTSW	4	111,834,675 (GRCm39)	nonsense	probably null
R8840:Skint7	UTSW	4	111,845,183 (GRCm39)	missense	probably benign
R8946:Skint7	UTSW	4	111,839,198 (GRCm39)	missense	possibly damaging	0.52
Z1176:Skint7	UTSW	4	111,837,326 (GRCm39)	missense	probably benign	0.01
Z1177:Skint7	UTSW	4	111,837,432 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07