Mutagenetix > Incidental Mutation

Incidental Mutation 'R6024:Skint3'

479077

Institutional Source

Beutler Lab

Gene Symbol

Skint3

Ensembl Gene

ENSMUSG00000070868

Gene Name

selection and upkeep of intraepithelial T cells 3

Synonyms

A430090E18Rik

MMRRC Submission

044196-MU

Accession Numbers

Essential gene?

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

Stock #

R6024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112089442-112157665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112147543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 350 (F350S)

Ref Sequence

ENSEMBL: ENSMUSP00000042662 (fasta)

Gene Model

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

AlphaFold

A7TZF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038455
AA Change: F350S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042662
Gene: ENSMUSG00000070868
AA Change: F350S

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

possibly damaging
Transcript: ENSMUST00000170945
AA Change: F422S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131300
Gene: ENSMUSG00000070868
AA Change: F422S

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,624,624 (GRCm39)	F3782L	probably benign	Het
Akr1d1	T	C	6: 37,535,417 (GRCm39)	I267T	probably benign	Het
Aoc1l1	A	T	6: 48,953,030 (GRCm39)	K318N	possibly damaging	Het
Arhgef5	T	C	6: 43,252,068 (GRCm39)	S940P	probably benign	Het
Art2b	A	G	7: 101,229,587 (GRCm39)	I104T	probably benign	Het
Avpr1a	A	G	10: 122,285,053 (GRCm39)	Y115C	probably damaging	Het
Cdc42bpg	T	A	19: 6,367,526 (GRCm39)	L995Q	probably damaging	Het
Cenatac	T	C	9: 44,329,249 (GRCm39)	T13A	possibly damaging	Het
Clip1	T	C	5: 123,753,152 (GRCm39)	K210E	possibly damaging	Het
Cog4	C	T	8: 111,608,112 (GRCm39)	T735I	probably damaging	Het
Creb3l4	G	A	3: 90,146,006 (GRCm39)	S206L	probably damaging	Het
Csf3r	C	A	4: 125,931,310 (GRCm39)		probably null	Het
Dnah11	G	T	12: 117,994,007 (GRCm39)	S2346R	probably benign	Het
Dnai2	A	T	11: 114,643,734 (GRCm39)	I467F	possibly damaging	Het
Dpy19l4	A	T	4: 11,276,876 (GRCm39)	M523K	probably damaging	Het
Ebf3	T	C	7: 136,802,264 (GRCm39)	D407G	probably damaging	Het
Fbn2	A	G	18: 58,209,908 (GRCm39)	I991T	probably benign	Het
Gcc1	T	C	6: 28,419,299 (GRCm39)	T345A	probably benign	Het
Gm1527	C	T	3: 28,974,752 (GRCm39)	H522Y	probably benign	Het
Gm4846	T	A	1: 166,317,696 (GRCm39)	Y240F	probably benign	Het
Hmgcl	T	C	4: 135,682,926 (GRCm39)	V126A	probably benign	Het
Ifit1bl2	G	T	19: 34,597,438 (GRCm39)	S59R	probably benign	Het
Itga6	A	G	2: 71,617,577 (GRCm39)	N32S	probably benign	Het
Lcor	C	A	19: 41,572,396 (GRCm39)	P384T	possibly damaging	Het
Macc1	T	C	12: 119,414,160 (GRCm39)	S779P	probably benign	Het
Mctp1	G	T	13: 76,533,280 (GRCm39)	L209F	probably damaging	Het
Mink1	A	G	11: 70,489,915 (GRCm39)	N97S	possibly damaging	Het
Mst1r	T	A	9: 107,785,350 (GRCm39)	V336E	probably benign	Het
Muc16	A	T	9: 18,557,967 (GRCm39)	S2775R	unknown	Het
Muc6	T	A	7: 141,227,841 (GRCm39)	T1316S	possibly damaging	Het
Myh11	T	A	16: 14,095,567 (GRCm39)	N65I	probably damaging	Het
Myo9a	A	G	9: 59,762,671 (GRCm39)	N801D	possibly damaging	Het
Nkain2	A	T	10: 31,827,281 (GRCm39)	M103K	probably damaging	Het
Nkx2-2	T	A	2: 147,025,961 (GRCm39)	Y259F	probably benign	Het
Nrxn1	T	C	17: 90,897,526 (GRCm39)	M877V	possibly damaging	Het
Nxf1	C	T	19: 8,745,108 (GRCm39)	L453F	probably damaging	Het
Pcnt	T	C	10: 76,255,871 (GRCm39)	S790G	possibly damaging	Het
Phf3	T	C	1: 30,902,307 (GRCm39)	D2G	probably damaging	Het
Phrf1	T	C	7: 140,838,898 (GRCm39)		probably benign	Het
Ptpn3	C	A	4: 57,248,653 (GRCm39)		probably null	Het
Pygl	T	C	12: 70,243,841 (GRCm39)	T625A	probably benign	Het
R3hdm2	T	A	10: 127,295,349 (GRCm39)	F239I	probably damaging	Het
Sesn1	A	T	10: 41,772,196 (GRCm39)	I242F	probably damaging	Het
Shank2	C	T	7: 143,733,768 (GRCm39)	T105I	probably benign	Het
Slco5a1	T	C	1: 13,014,294 (GRCm39)	Y320C	probably damaging	Het
Syt11	A	G	3: 88,669,416 (GRCm39)	S159P	probably benign	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tanc2	T	C	11: 105,814,498 (GRCm39)	S1981P	probably damaging	Het
Tmem200c	A	C	17: 69,148,722 (GRCm39)	D435A	possibly damaging	Het
Trappc8	A	G	18: 20,966,066 (GRCm39)	V1125A	probably damaging	Het
Ttn	A	G	2: 76,644,487 (GRCm39)	V4762A	possibly damaging	Het
Unc5d	A	G	8: 29,365,539 (GRCm39)	S149P	possibly damaging	Het
Usf3	A	T	16: 44,040,203 (GRCm39)	N1561I	probably damaging	Het
Wdr4	A	T	17: 31,720,272 (GRCm39)		probably benign	Het
Wdr49	T	G	3: 75,209,133 (GRCm39)	E612D	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
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
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'- ATCCCCACATTCATCTCTGAAG -3'
(R):5'- GTCCTGCATGCTATTAGAAAGAG -3'

Sequencing Primer
(F):5'- CCCACATTCATCTCTGAAGAATTC -3'
(R):5'- ACCCATGCTCATTGGAAGTG -3'

Posted On

2017-06-26