Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01890:Skint1'

179224

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Skint1

Ensembl Gene

ENSMUSG00000089773

Gene Name

selection and upkeep of intraepithelial T cells 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL01890

Quality Score

Status

Chromosome

Chromosomal Location

112006269-112029538 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112010681 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 2 (G2R)

Ref Sequence

ENSEMBL: ENSMUSP00000124545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117379] [ENSMUST00000161389] [ENSMUST00000162158] [ENSMUST00000162885]

AlphaFold

A7TZE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000117379
AA Change: G2R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124545
Gene: ENSMUSG00000089773
AA Change: G2R

Domain	Start	End	E-Value	Type
IGv	44	125	1.88e-8	SMART
Pfam:C2-set_2	142	228	2.5e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143802

Predicted Effect

probably damaging
Transcript: ENSMUST00000161389
AA Change: G2R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125313
Gene: ENSMUSG00000089773
AA Change: G2R

Domain	Start	End	E-Value	Type
IGv	44	125	1.88e-8	SMART
Pfam:C2-set_2	142	228	3.1e-6	PFAM
transmembrane domain	248	267	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162158
AA Change: G2R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124737
Gene: ENSMUSG00000089773
AA Change: G2R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IGv	44	125	1.88e-8	SMART
transmembrane domain	247	269	N/A	INTRINSIC
transmembrane domain	282	304	N/A	INTRINSIC
transmembrane domain	326	348	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162885
AA Change: G2R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125625
Gene: ENSMUSG00000089773
AA Change: G2R

Domain	Start	End	E-Value	Type
IGv	44	125	1.88e-8	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a point mutation allele exhibit impaired T cell differentiation with reduced Vgamma5+Vdelta1+ T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	T	12: 80,184,868	V265E	probably damaging	Het
Anks1b	A	G	10: 90,644,527	I865V	probably benign	Het
Car5a	G	A	8: 121,923,610	A182V	probably benign	Het
Ccdc47	A	G	11: 106,205,451	V249A	probably damaging	Het
Cyb561d2	A	G	9: 107,541,523	V34A	probably damaging	Het
Dmbt1	A	G	7: 131,074,419		probably benign	Het
Entpd6	G	A	2: 150,770,692	D445N	possibly damaging	Het
Fastkd2	A	G	1: 63,732,161	I225M	probably benign	Het
Flcn	A	G	11: 59,795,170	V424A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gpn3	A	G	5: 122,381,265	M176V	probably benign	Het
Igkv12-38	C	T	6: 69,943,405	C43Y	probably damaging	Het
Oas1h	A	G	5: 120,862,789		probably null	Het
Rexo1	A	T	10: 80,543,011	Y1064N	possibly damaging	Het
Slc4a9	G	A	18: 36,529,707	A172T	possibly damaging	Het
Synpo2	A	G	3: 123,112,497	S727P	probably damaging	Het
Tmem131	A	T	1: 36,823,156		probably benign	Het
Trpm3	G	T	19: 22,711,719	R4L	probably damaging	Het
Upf1	A	T	8: 70,334,230	V879E	possibly damaging	Het
Vmn1r194	A	T	13: 22,244,606	Y131F	probably benign	Het
Vmn2r95	T	A	17: 18,451,475	N491K	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Skint1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Skint1	APN	4	112021580	critical splice donor site	probably null
IGL02020:Skint1	APN	4	112025527	missense	probably benign	0.08
IGL02045:Skint1	APN	4	112025530	missense	possibly damaging	0.80
R0421:Skint1	UTSW	4	112019014	missense	possibly damaging	0.74
R0544:Skint1	UTSW	4	112021365	missense	probably damaging	1.00
R0617:Skint1	UTSW	4	112029399	splice site	probably benign
R0881:Skint1	UTSW	4	112028857	missense	probably benign	0.04
R0973:Skint1	UTSW	4	112028215	splice site	probably benign
R1036:Skint1	UTSW	4	112019296	missense	possibly damaging	0.71
R1469:Skint1	UTSW	4	112025511	missense	probably benign	0.00
R1469:Skint1	UTSW	4	112025511	missense	probably benign	0.00
R2029:Skint1	UTSW	4	112021456	splice site	probably null
R2063:Skint1	UTSW	4	112025533	missense	probably benign	0.00
R2064:Skint1	UTSW	4	112025533	missense	probably benign	0.00
R2065:Skint1	UTSW	4	112025533	missense	probably benign	0.00
R2066:Skint1	UTSW	4	112025533	missense	probably benign	0.00
R2067:Skint1	UTSW	4	112025533	missense	probably benign	0.00
R2372:Skint1	UTSW	4	112019151	missense	probably damaging	1.00
R2518:Skint1	UTSW	4	112025481	missense	probably benign	0.25
R2971:Skint1	UTSW	4	112021330	missense	possibly damaging	0.50
R4656:Skint1	UTSW	4	112021477	missense	probably damaging	1.00
R4993:Skint1	UTSW	4	112028333	critical splice donor site	probably null
R5083:Skint1	UTSW	4	112029433	missense	probably benign	0.01
R5450:Skint1	UTSW	4	112025532	missense	probably benign	0.00
R5583:Skint1	UTSW	4	112019056	missense	probably damaging	1.00
R5645:Skint1	UTSW	4	112025502	missense	probably benign	0.41
R5877:Skint1	UTSW	4	112021523	nonsense	probably null
R5950:Skint1	UTSW	4	112019335	missense	probably benign
R5974:Skint1	UTSW	4	112019319	missense	probably benign	0.02
R6216:Skint1	UTSW	4	112021482	missense	probably benign	0.00
R6494:Skint1	UTSW	4	112010712	missense	probably benign	0.06
R7348:Skint1	UTSW	4	112021573	missense	probably damaging	1.00
R7752:Skint1	UTSW	4	112019202	missense	probably damaging	1.00
R7901:Skint1	UTSW	4	112019202	missense	probably damaging	1.00
R8515:Skint1	UTSW	4	112010724	missense	probably benign	0.10
R9417:Skint1	UTSW	4	112021312	missense	probably benign	0.33

Posted On

2014-05-07