Mutagenetix > Incidental Mutation

Incidental Mutation 'R6972:Skint3'

542288

Institutional Source

Beutler Lab

Gene Symbol

Skint3

Ensembl Gene

ENSMUSG00000070868

Gene Name

selection and upkeep of intraepithelial T cells 3

Synonyms

A430090E18Rik

MMRRC Submission

045082-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6972 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112089442-112157665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112116089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 240 (S240T)

Ref Sequence

ENSEMBL: ENSMUSP00000131300 (fasta)

Gene Model

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

AlphaFold

A7TZF0

Predicted Effect

probably benign
Transcript: ENSMUST00000038455

SMART Domains

Protein: ENSMUSP00000042662
Gene: ENSMUSG00000070868

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 damaging
Transcript: ENSMUST00000170945
AA Change: S240T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131300
Gene: ENSMUSG00000070868
AA Change: S240T

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.0%
20x: 95.8%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	A	G	7: 79,003,775 (GRCm39)	S285G	probably benign	Het
Afg1l	T	C	10: 42,354,370 (GRCm39)	T10A	probably benign	Het
Akap9	A	G	5: 4,096,699 (GRCm39)	N2525D	possibly damaging	Het
B3gnt7	G	A	1: 86,233,109 (GRCm39)	M1I	probably null	Het
Bdp1	T	C	13: 100,174,269 (GRCm39)	E2089G	probably null	Het
Calcrl	T	G	2: 84,198,922 (GRCm39)	I156L	probably benign	Het
Cd69	T	C	6: 129,246,543 (GRCm39)	S122G	probably benign	Het
Chek2	T	C	5: 111,003,705 (GRCm39)		probably null	Het
Ckap5	T	A	2: 91,436,658 (GRCm39)	I1586K	probably damaging	Het
Cyp4f14	C	T	17: 33,124,483 (GRCm39)	A523T	probably benign	Het
Dcaf1	T	A	9: 106,723,971 (GRCm39)	C466*	probably null	Het
Dcdc2a	A	T	13: 25,304,372 (GRCm39)		probably benign	Het
Eml5	T	C	12: 98,842,439 (GRCm39)	I220V	probably benign	Het
Etv2	T	C	7: 30,334,167 (GRCm39)	N189D	probably benign	Het
Fuz	T	C	7: 44,546,755 (GRCm39)		probably benign	Het
Git1	T	G	11: 77,390,347 (GRCm39)	V64G	probably damaging	Het
Gpr162	C	T	6: 124,838,272 (GRCm39)	R126H	probably damaging	Het
Grm5	T	C	7: 87,252,131 (GRCm39)	V127A	probably benign	Het
Iqsec1	T	C	6: 90,653,750 (GRCm39)	D665G	probably damaging	Het
Kcnh1	A	G	1: 191,959,144 (GRCm39)	I233V	probably damaging	Het
Lmcd1	C	T	6: 112,287,659 (GRCm39)	T115I	probably damaging	Het
Mybpc1	T	C	10: 88,396,223 (GRCm39)	E208G	possibly damaging	Het
Nfic	C	A	10: 81,256,191 (GRCm39)	A158S	probably benign	Het
Nos3	A	T	5: 24,585,241 (GRCm39)	I798L	probably benign	Het
Ntrk1	A	T	3: 87,691,288 (GRCm39)	L292Q	probably damaging	Het
Or2ag16	A	G	7: 106,351,906 (GRCm39)	S230P	possibly damaging	Het
Orc4	T	C	2: 48,817,196 (GRCm39)	Q164R	probably benign	Het
Pcdhb14	T	A	18: 37,582,745 (GRCm39)	V617E	probably damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plscr3	G	A	11: 69,738,784 (GRCm39)	E149K	probably damaging	Het
Pltp	A	G	2: 164,688,512 (GRCm39)		probably null	Het
Pramel11	A	G	4: 143,623,472 (GRCm39)	L234P	probably damaging	Het
Prg2	G	A	2: 84,812,617 (GRCm39)	R109H	probably benign	Het
Ptprj	G	A	2: 90,410,747 (GRCm39)	S62F	possibly damaging	Het
Resf1	T	A	6: 149,227,607 (GRCm39)	Y218N	probably damaging	Het
Smarca5	A	G	8: 81,431,380 (GRCm39)	Y946H	probably damaging	Het
Taf4b	T	C	18: 14,946,404 (GRCm39)	V409A	possibly damaging	Het
Tafa2	A	G	10: 123,540,278 (GRCm39)	T45A	probably benign	Het
Trim29	T	A	9: 43,238,409 (GRCm39)	N504K	probably benign	Het
Vmn2r77	T	C	7: 86,452,202 (GRCm39)	Y461H	probably damaging	Het
Zeb2	T	C	2: 44,887,330 (GRCm39)	K531E	probably damaging	Het
Zfp687	A	G	3: 94,916,688 (GRCm39)	S813P	possibly damaging	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
R4662:Skint3	UTSW	4	112,134,863 (GRCm39)	nonsense	probably null
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
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'- AGCCTCACTATAAATTCTACCAGGC -3'
(R):5'- CCACATTTAGGATTTACTGGGAAAC -3'

Sequencing Primer
(F):5'- ACCAGGCTCTGATCATGTTCAG -3'
(R):5'- CTAGGCTGAGAAGCAATCCTTG -3'

Posted On

2018-11-28