Mutagenetix > Incidental Mutations

Incidental Mutation 'R1191:Skint3'

100787

Institutional Source

Beutler Lab

Gene Symbol

Skint3

Ensembl Gene

ENSMUSG00000070868

Gene Name

selection and upkeep of intraepithelial T cells 3

Synonyms

MMRRC Submission

039263-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R1191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112232245-112300468 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 112235742 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000131300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038455] [ENSMUST00000170945]

Predicted Effect

probably null
Transcript: ENSMUST00000038455
AA Change: M1K

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042662
Gene: ENSMUSG00000070868
AA Change: M1K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	34	141	3.51e-8	SMART
transmembrane domain	248	270	N/A	INTRINSIC
transmembrane domain	291	313	N/A	INTRINSIC
transmembrane domain	328	350	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000170945
AA Change: M1K

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131300
Gene: ENSMUSG00000070868
AA Change: M1K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	34	141	3.51e-8	SMART
transmembrane domain	243	265	N/A	INTRINSIC
transmembrane domain	285	304	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
transmembrane domain	362	384	N/A	INTRINSIC
transmembrane domain	404	426	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.1%
20x: 87.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd27	T	C	7: 35,602,487	F144L	probably damaging	Het
C8b	C	T	4: 104,793,323	P377S	probably damaging	Het
Cfi	C	A	3: 129,868,527	T385N	probably benign	Het
Col15a1	G	T	4: 47,254,083	G300*	probably null	Het
Crlf1	G	A	8: 70,498,828	C119Y	probably damaging	Het
Dcaf4	A	T	12: 83,535,967	S279C	probably damaging	Het
Gde1	A	T	7: 118,705,441	H70Q	probably damaging	Het
Gpt2	A	T	8: 85,509,272	N179I	probably damaging	Het
Grik5	G	A	7: 25,058,325	Q410*	probably null	Het
Hspa2	C	T	12: 76,405,881	R450W	probably damaging	Het
Idh3b	A	T	2: 130,281,890	M118K	probably benign	Het
Ighv5-21	T	C	12: 114,322,803		probably benign	Het
Il12rb2	C	T	6: 67,298,216	V642M	possibly damaging	Het
Iqcg	A	G	16: 33,049,943	V60A	probably benign	Het
Irx6	T	A	8: 92,676,952	Y102N	probably damaging	Het
Itgb6	C	T	2: 60,653,137		probably null	Het
Mmp27	A	T	9: 7,579,066		probably null	Het
Olfr143	G	T	9: 38,254,205	V263F	probably damaging	Het
Olfr175-ps1	T	A	16: 58,824,559	Y50F	probably benign	Het
Olfr452	C	A	6: 42,790,517	H159Q	probably benign	Het
Olfr50	T	A	2: 36,793,338	M34K	probably damaging	Het
Olfr976	A	T	9: 39,956,968	M1K	probably null	Het
Pcdhb16	A	G	18: 37,479,873	R629G	probably damaging	Het
Pde3b	A	T	7: 114,519,575	M650L	probably benign	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Strn	T	C	17: 78,692,426	Q127R	possibly damaging	Het
Taar2	T	G	10: 23,941,029	W156G	probably damaging	Het
Trpt1	G	T	19: 6,996,770	M45I	probably benign	Het
Ubap2l	T	C	3: 90,023,575	T357A	probably damaging	Het
Ubr3	C	T	2: 70,021,181	R1831*	probably null	Het
Unc79	T	A	12: 103,047,012	Y287*	probably null	Het
Utrn	T	A	10: 12,634,033	K2398N	probably benign	Het
Vav2	A	T	2: 27,292,780		probably null	Het
Vps9d1	A	T	8: 123,247,967	H249Q	possibly damaging	Het
Vwf	T	A	6: 125,599,252	C432S	probably damaging	Het
Zfp369	T	A	13: 65,291,962	Y153*	probably null	Het
Zfp760	C	T	17: 21,723,305	P487L	probably damaging	Het
Zswim2	A	C	2: 83,923,695	V207G	possibly damaging	Het

Other mutations in Skint3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Skint3	APN	4	112255909	splice site	probably benign
IGL01344:Skint3	APN	4	112290322	missense	possibly damaging	0.53
IGL02875:Skint3	APN	4	112255882	missense	possibly damaging	0.88
IGL03308:Skint3	APN	4	112254067	missense	probably damaging	1.00
IGL03372:Skint3	APN	4	112255906	splice site	probably benign
R0043:Skint3	UTSW	4	112277623	missense	probably damaging	0.98
R0671:Skint3	UTSW	4	112255777	nonsense	probably null
R0747:Skint3	UTSW	4	112253905	missense	probably damaging	1.00
R2058:Skint3	UTSW	4	112255783	nonsense	probably null
R3819:Skint3	UTSW	4	112255888	missense	possibly damaging	0.68
R3893:Skint3	UTSW	4	112253918	missense	probably damaging	0.97
R4166:Skint3	UTSW	4	112255635	missense	possibly damaging	0.89
R4449:Skint3	UTSW	4	112270009	missense	possibly damaging	0.74
R4662:Skint3	UTSW	4	112277666	nonsense	probably null
R4790:Skint3	UTSW	4	112255898	missense	possibly damaging	0.49
R5374:Skint3	UTSW	4	112298189	missense	possibly damaging	0.81
R5570:Skint3	UTSW	4	112235798	missense	probably benign	0.08
R6024:Skint3	UTSW	4	112290346	missense	possibly damaging	0.66
R6306:Skint3	UTSW	4	112255875	missense	probably damaging	1.00
R6552:Skint3	UTSW	4	112290285	missense	possibly damaging	0.95
R6619:Skint3	UTSW	4	112253864	missense	probably damaging	1.00
R6972:Skint3	UTSW	4	112258892	missense	probably damaging	0.98
Z1176:Skint3	UTSW	4	112253902	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAGTGCCATAATCGTGTCTGGAAA -3'
(R):5'- TTTGTAGTCTGCAACAATTCCTCAGTGT -3'

Sequencing Primer
(F):5'- ACAAGTGACCTGATAAGGTTTCC -3'
(R):5'- TGAAATATTGAGTCCTCCAGGC -3'

Posted On

2014-01-15