Mutagenetix > Incidental Mutation

Incidental Mutation 'R3893:Skint3'

310028

Institutional Source

Beutler Lab

Gene Symbol

Skint3

Ensembl Gene

ENSMUSG00000070868

Gene Name

selection and upkeep of intraepithelial T cells 3

Synonyms

A430090E18Rik

MMRRC Submission

040805-MU

Accession Numbers

Essential gene?

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

Stock #

R3893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112089442-112157665 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112111115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 80 (K80R)

Ref Sequence

ENSEMBL: ENSMUSP00000131300 (fasta)

Gene Model

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

AlphaFold

A7TZF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038455
AA Change: K80R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042662
Gene: ENSMUSG00000070868
AA Change: K80R

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: K80R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131300
Gene: ENSMUSG00000070868
AA Change: K80R

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	A	T	9: 98,068,864 (GRCm39)		noncoding transcript	Het
Adam19	C	T	11: 46,019,665 (GRCm39)	A455V	probably damaging	Het
Akr1c19	G	A	13: 4,288,441 (GRCm39)	D140N	probably damaging	Het
Atoh1	A	G	6: 64,707,117 (GRCm39)	T271A	probably damaging	Het
Atp6v0a2	G	A	5: 124,777,203 (GRCm39)	R168Q	probably damaging	Het
B930094E09Rik	G	A	18: 31,742,742 (GRCm39)	S59N	unknown	Het
Cadps	A	G	14: 12,488,883 (GRCm38)		probably benign	Het
Cfap69	A	T	5: 5,631,245 (GRCm39)	V61E	probably damaging	Het
Chd5	A	G	4: 152,445,113 (GRCm39)	R365G	probably damaging	Het
Cracdl	T	A	1: 37,670,539 (GRCm39)	M134L	probably benign	Het
Cyria	T	C	12: 12,412,526 (GRCm39)	V232A	probably benign	Het
Dnajc18	A	T	18: 35,834,048 (GRCm39)		probably null	Het
Fmnl1	T	A	11: 103,087,583 (GRCm39)		probably benign	Het
Gca	A	G	2: 62,509,564 (GRCm39)	Y89C	probably damaging	Het
Gcnt2	A	G	13: 41,013,922 (GRCm39)	Y31C	probably benign	Het
Gem	C	T	4: 11,705,889 (GRCm39)		probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gpc5	T	C	14: 115,607,472 (GRCm39)	M358T	probably benign	Het
Gprin3	T	C	6: 59,331,464 (GRCm39)	Y281C	probably benign	Het
H2-M11	A	G	17: 36,857,982 (GRCm39)	T6A	probably benign	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Lrrk1	T	C	7: 65,928,268 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,380,199 (GRCm39)	Y1298H	probably damaging	Het
Micu3	C	T	8: 40,819,265 (GRCm39)	L315F	probably damaging	Het
Pkd1	G	A	17: 24,791,084 (GRCm39)		probably null	Het
Pkhd1	A	T	1: 20,382,362 (GRCm39)	Y2596*	probably null	Het
Pnliprp2	A	G	19: 58,754,705 (GRCm39)	S250G	probably benign	Het
Prkcq	A	C	2: 11,231,782 (GRCm39)	E35A	probably damaging	Het
Prpf8	C	A	11: 75,391,083 (GRCm39)	S1377R	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rsbn1l	C	T	5: 21,110,838 (GRCm39)	R500H	probably damaging	Het
Sart3	C	T	5: 113,884,697 (GRCm39)	E636K	probably benign	Het
Slc11a1	G	A	1: 74,423,865 (GRCm39)	A398T	probably damaging	Het
Sspo	G	T	6: 48,453,505 (GRCm39)	E2887*	probably null	Het
Tmc5	A	C	7: 118,244,592 (GRCm39)	Y490S	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tnfsf8	G	T	4: 63,779,196 (GRCm39)	T34K	possibly damaging	Het
Trim5	T	A	7: 103,926,042 (GRCm39)	N173I	probably damaging	Het
Vkorc1l1	A	T	5: 130,011,112 (GRCm39)	I109L	probably benign	Het
Vmn1r214	A	G	13: 23,218,811 (GRCm39)	T102A	probably benign	Het
Wdr19	A	G	5: 65,385,635 (GRCm39)	D579G	possibly damaging	Het
Zc3h6	A	G	2: 128,858,060 (GRCm39)	Y697C	probably damaging	Het
Zfp955b	T	C	17: 33,521,968 (GRCm39)	I479T	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
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
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'- ACTGTTGTCCCTACAGAGCAG -3'
(R):5'- ATGGGCACACAACAAATCTCAGTAG -3'

Sequencing Primer
(F):5'- GAGCAGTTCACAATTACTGGC -3'
(R):5'- AGTAGAATCCGTGCCTACCAGTG -3'

Posted On

2015-04-17