Mutagenetix > Incidental Mutation

Incidental Mutation 'R4662:Skint3'

352922

Institutional Source

Beutler Lab

Gene Symbol

Skint3

Ensembl Gene

ENSMUSG00000070868

Gene Name

selection and upkeep of intraepithelial T cells 3

Synonyms

A430090E18Rik

MMRRC Submission

042011-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R4662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112089442-112157665 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 112134863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 345 (Y345*)

Ref Sequence

ENSEMBL: ENSMUSP00000131300 (fasta)

Gene Model

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

AlphaFold

A7TZF0

Predicted Effect

probably null
Transcript: ENSMUST00000038455
AA Change: Y273*

SMART Domains

Protein: ENSMUSP00000042662
Gene: ENSMUSG00000070868
AA Change: Y273*

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: Y345*

SMART Domains

Protein: ENSMUSP00000131300
Gene: ENSMUSG00000070868
AA Change: Y345*

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	T	6: 91,891,939 (GRCm39)	Q67L	probably benign	Het
Adam34l	T	A	8: 44,080,116 (GRCm39)	Y36F	probably benign	Het
Adrb1	A	G	19: 56,711,206 (GRCm39)	T135A	probably damaging	Het
Ark2n	T	A	18: 77,762,186 (GRCm39)	Q42L	probably benign	Het
Asxl2	G	T	12: 3,477,193 (GRCm39)	W13L	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Brsk1	T	C	7: 4,710,298 (GRCm39)	S436P	possibly damaging	Het
Calb2	A	G	8: 110,894,709 (GRCm39)	F21L	probably benign	Het
Camk2a	T	C	18: 61,074,411 (GRCm39)	Y39H	probably damaging	Het
Cavin2	T	C	1: 51,340,510 (GRCm39)	S396P	probably benign	Het
Cfdp1	A	G	8: 112,557,577 (GRCm39)	F188S	probably benign	Het
Chek2	T	A	5: 111,014,908 (GRCm39)	V459D	probably damaging	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Cobl	A	G	11: 12,203,672 (GRCm39)	V1003A	probably benign	Het
Ctsll3	A	G	13: 60,947,416 (GRCm39)	F257L	possibly damaging	Het
Dnajc13	A	C	9: 104,084,957 (GRCm39)	F819V	probably damaging	Het
Dram1	C	A	10: 88,161,246 (GRCm39)	V208L	probably damaging	Het
Dynlt1b	A	G	17: 6,699,279 (GRCm39)	T10A	probably benign	Het
Eml6	A	T	11: 29,727,390 (GRCm39)	V1244E	probably damaging	Het
Ethe1	G	A	7: 24,293,405 (GRCm39)	S17N	probably benign	Het
Foxi1	T	C	11: 34,157,578 (GRCm39)	D149G	probably damaging	Het
Fzd9	T	C	5: 135,278,475 (GRCm39)	E470G	probably damaging	Het
Ggnbp2	A	G	11: 84,753,072 (GRCm39)	F56L	probably damaging	Het
Hao1	G	A	2: 134,364,947 (GRCm39)	R227*	probably null	Het
Hyal1	G	A	9: 107,456,420 (GRCm39)	R369H	probably damaging	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Kcna2	T	A	3: 107,012,733 (GRCm39)	I438N	probably benign	Het
Lrp1	A	T	10: 127,388,054 (GRCm39)	C3331*	probably null	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Mroh9	C	T	1: 162,883,162 (GRCm39)	C439Y	probably damaging	Het
N4bp2l2	T	C	5: 150,574,160 (GRCm39)	D85G	probably damaging	Het
Nr1h2	A	G	7: 44,199,855 (GRCm39)	Y355H	probably damaging	Het
Nr5a2	T	C	1: 136,868,167 (GRCm39)	I322V	probably benign	Het
Nup153	A	C	13: 46,840,750 (GRCm39)	L273V	possibly damaging	Het
Obscn	A	G	11: 58,890,422 (GRCm39)	L7370P	unknown	Het
Or1a1	T	C	11: 74,086,542 (GRCm39)	I71T	probably damaging	Het
Or4b1	T	A	2: 89,980,222 (GRCm39)	I43F	probably damaging	Het
Or5k15	A	G	16: 58,710,287 (GRCm39)	C99R	probably damaging	Het
Prkdc	G	A	16: 15,551,916 (GRCm39)	D2041N	probably damaging	Het
Ptdss1	A	G	13: 67,081,675 (GRCm39)	D35G	possibly damaging	Het
Ptprs	G	T	17: 56,724,666 (GRCm39)	T1118K	probably damaging	Het
Pygb	C	T	2: 150,657,036 (GRCm39)	T329I	probably benign	Het
Rhoh	T	A	5: 66,050,157 (GRCm39)	D142E	probably benign	Het
Saraf	C	A	8: 34,635,616 (GRCm39)	A306E	probably damaging	Het
Scn1a	T	C	2: 66,181,332 (GRCm39)	I64V	probably benign	Het
Sec16a	A	G	2: 26,320,582 (GRCm39)	W1333R	probably damaging	Het
Shroom1	A	T	11: 53,357,289 (GRCm39)	T651S	possibly damaging	Het
Slc1a7	T	A	4: 107,864,751 (GRCm39)	N263K	probably damaging	Het
Sptbn2	C	T	19: 4,789,267 (GRCm39)	R1236C	probably damaging	Het
Tbx21	T	C	11: 96,992,393 (GRCm39)	N226S	probably benign	Het
Thada	A	G	17: 84,743,078 (GRCm39)	L782P	probably damaging	Het
Tle1	T	G	4: 72,055,335 (GRCm39)	I446L	possibly damaging	Het
Trgv1	T	A	13: 19,524,503 (GRCm39)	L76I	possibly damaging	Het
Triobp	A	G	15: 78,877,469 (GRCm39)	D1621G	probably damaging	Het
Trpm2	G	C	10: 77,773,972 (GRCm39)	A481G	probably benign	Het
Unc80	A	T	1: 66,685,595 (GRCm39)	M2240L	probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Homo
Vangl1	T	C	3: 102,074,238 (GRCm39)	T290A	probably benign	Het
Vmn1r233	T	A	17: 21,214,393 (GRCm39)	I186F	probably benign	Het
Vmn2r102	G	A	17: 19,901,424 (GRCm39)	C517Y	probably damaging	Het
Vrk2	G	A	11: 26,421,611 (GRCm39)	T449M	possibly damaging	Het
Zfp518a	A	G	19: 40,900,304 (GRCm39)	S78G	probably benign	Het
Zscan25	T	C	5: 145,223,120 (GRCm39)	S131P	unknown	Het
Zscan29	G	A	2: 120,997,096 (GRCm39)	T140I	probably benign	Het

Other mutations in Skint3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Skint3	APN	4	112,113,106 (GRCm39)	splice site	probably benign
IGL01344:Skint3	APN	4	112,147,519 (GRCm39)	missense	possibly damaging	0.53
IGL02875:Skint3	APN	4	112,113,079 (GRCm39)	missense	possibly damaging	0.88
IGL03308:Skint3	APN	4	112,111,264 (GRCm39)	missense	probably damaging	1.00
IGL03372:Skint3	APN	4	112,113,103 (GRCm39)	splice site	probably benign
R0043:Skint3	UTSW	4	112,134,820 (GRCm39)	missense	probably damaging	0.98
R0671:Skint3	UTSW	4	112,112,974 (GRCm39)	nonsense	probably null
R0747:Skint3	UTSW	4	112,111,102 (GRCm39)	missense	probably damaging	1.00
R1191:Skint3	UTSW	4	112,092,939 (GRCm39)	start codon destroyed	probably null	0.95
R2058:Skint3	UTSW	4	112,112,980 (GRCm39)	nonsense	probably null
R3819:Skint3	UTSW	4	112,113,085 (GRCm39)	missense	possibly damaging	0.68
R3893:Skint3	UTSW	4	112,111,115 (GRCm39)	missense	probably damaging	0.97
R4166:Skint3	UTSW	4	112,112,832 (GRCm39)	missense	possibly damaging	0.89
R4449:Skint3	UTSW	4	112,127,206 (GRCm39)	missense	possibly damaging	0.74
R4790:Skint3	UTSW	4	112,113,095 (GRCm39)	missense	possibly damaging	0.49
R5374:Skint3	UTSW	4	112,155,386 (GRCm39)	missense	possibly damaging	0.81
R5570:Skint3	UTSW	4	112,092,995 (GRCm39)	missense	probably benign	0.08
R6024:Skint3	UTSW	4	112,147,543 (GRCm39)	missense	possibly damaging	0.66
R6306:Skint3	UTSW	4	112,113,072 (GRCm39)	missense	probably damaging	1.00
R6552:Skint3	UTSW	4	112,147,482 (GRCm39)	missense	possibly damaging	0.95
R6619:Skint3	UTSW	4	112,111,061 (GRCm39)	missense	probably damaging	1.00
R6972:Skint3	UTSW	4	112,116,089 (GRCm39)	missense	probably damaging	0.98
R9029:Skint3	UTSW	4	112,111,151 (GRCm39)	missense	probably damaging	1.00
R9433:Skint3	UTSW	4	112,137,432 (GRCm39)	missense	probably benign	0.06
R9701:Skint3	UTSW	4	112,111,094 (GRCm39)	missense	probably damaging	1.00
R9802:Skint3	UTSW	4	112,111,094 (GRCm39)	missense	probably damaging	1.00
Z1176:Skint3	UTSW	4	112,111,099 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTGTGCATGAAGGGGCAAG -3'
(R):5'- CCAGTAGTCCCAAGAAGGAATG -3'

Sequencing Primer
(F):5'- GAAGCAACAAGAATCTGAAAAACAG -3'
(R):5'- TCCCAAGAAGGAATGTGTAATCTACC -3'

Posted On

2015-10-08