Mutagenetix > Incidental Mutation

Incidental Mutation 'R0067:Skint10'

17172

Institutional Source

Beutler Lab

Gene Symbol

Skint10

Ensembl Gene

ENSMUSG00000048766

Gene Name

selection and upkeep of intraepithelial T cells 10

Synonyms

A030001H23Rik

MMRRC Submission

038358-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R0067 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

112568344-112632063 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112568753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 321 (F321L)

Ref Sequence

ENSEMBL: ENSMUSP00000058838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060327]

AlphaFold

A7TZG1

Predicted Effect

probably benign
Transcript: ENSMUST00000060327
AA Change: F321L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058838
Gene: ENSMUSG00000048766
AA Change: F321L

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
PDB:4F8T\|A	50	149	5e-8	PDB
Blast:IG_like	56	143	3e-11	BLAST
transmembrane domain	162	184	N/A	INTRINSIC
transmembrane domain	212	229	N/A	INTRINSIC
transmembrane domain	249	271	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 87.3%
3x: 82.3%
10x: 64.1%
20x: 35.8%

Validation Efficiency

96% (73/76)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	T	7: 28,610,995 (GRCm39)	V248M	possibly damaging	Het
AW209491	A	T	13: 14,812,328 (GRCm39)	I394F	probably benign	Het
Cacna1d	A	T	14: 29,796,967 (GRCm39)		probably benign	Het
Cacna1i	A	T	15: 80,265,373 (GRCm39)	I1542F	probably damaging	Het
Cep97	A	T	16: 55,735,924 (GRCm39)	N291K	possibly damaging	Het
Clasp2	A	T	9: 113,689,209 (GRCm39)		probably benign	Het
Dennd1c	T	C	17: 57,382,465 (GRCm39)	Q67R	probably damaging	Het
Eva1c	A	T	16: 90,663,305 (GRCm39)	D13V	possibly damaging	Het
Fam151b	T	C	13: 92,610,504 (GRCm39)	K95R	probably benign	Het
Gm13941	T	C	2: 110,889,761 (GRCm39)		noncoding transcript	Het
Gps2	C	T	11: 69,805,607 (GRCm39)	Q42*	probably null	Het
Hivep1	T	A	13: 42,312,132 (GRCm39)	D1457E	probably benign	Het
L3mbtl1	A	G	2: 162,790,748 (GRCm39)	K225E	probably damaging	Het
Limch1	A	G	5: 67,131,965 (GRCm39)	S143G	probably damaging	Het
Macf1	T	C	4: 123,369,041 (GRCm39)	K342E	possibly damaging	Het
Mc5r	T	G	18: 68,472,637 (GRCm39)	M332R	probably damaging	Het
Mcf2l	A	G	8: 13,063,060 (GRCm39)	T882A	probably benign	Het
Mtrex	C	T	13: 113,023,396 (GRCm39)	V727I	probably benign	Het
Myf6	A	T	10: 107,329,340 (GRCm39)		probably null	Het
Plekha5	C	T	6: 140,470,629 (GRCm39)	T90I	probably damaging	Het
Ptbp2	T	C	3: 119,514,290 (GRCm39)	T478A	probably benign	Het
Rasgrp1	C	A	2: 117,125,301 (GRCm39)	R246S	probably damaging	Het
Rflnb	A	T	11: 75,912,987 (GRCm39)	S134T	possibly damaging	Het
Rnf214	A	G	9: 45,778,796 (GRCm39)		probably null	Het
Satb1	T	C	17: 52,111,364 (GRCm39)	T165A	probably damaging	Het
Scamp1	T	C	13: 94,340,658 (GRCm39)	Y237C	probably damaging	Het
Slc8a1	A	G	17: 81,745,188 (GRCm39)	V672A	probably benign	Het
Spats2	C	A	15: 99,110,168 (GRCm39)	P522T	possibly damaging	Het
Stkld1	A	T	2: 26,839,352 (GRCm39)	E339D	probably benign	Het
Tbc1d9	A	G	8: 83,960,872 (GRCm39)	T241A	probably damaging	Het
Ticrr	A	T	7: 79,327,158 (GRCm39)	D622V	probably damaging	Het
Trmt1l	T	C	1: 151,324,131 (GRCm39)	V326A	probably benign	Het
Ube3c	A	G	5: 29,803,936 (GRCm39)	T180A	possibly damaging	Het
Unc13a	A	C	8: 72,087,302 (GRCm39)	F1482V	probably damaging	Het
Unc79	A	G	12: 103,025,777 (GRCm39)	E388G	probably damaging	Het
Ush2a	A	T	1: 188,697,043 (GRCm39)	D5167V	probably damaging	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Zcchc9	T	C	13: 91,945,368 (GRCm39)	I72V	probably benign	Het
Zfc3h1	G	T	10: 115,259,379 (GRCm39)	L1650F	possibly damaging	Het
Zzz3	A	G	3: 152,134,040 (GRCm39)	D366G	possibly damaging	Het

Other mutations in Skint10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02660:Skint10	APN	4	112,622,227 (GRCm39)	unclassified	probably benign
IGL02891:Skint10	APN	4	112,586,023 (GRCm39)	missense	probably benign	0.03
R0067:Skint10	UTSW	4	112,568,753 (GRCm39)	missense	probably benign
R0540:Skint10	UTSW	4	112,630,224 (GRCm39)	critical splice donor site	probably null
R0544:Skint10	UTSW	4	112,586,008 (GRCm39)	splice site	probably benign
R0711:Skint10	UTSW	4	112,573,102 (GRCm39)	splice site	probably benign
R1135:Skint10	UTSW	4	112,568,660 (GRCm39)	nonsense	probably null
R1341:Skint10	UTSW	4	112,622,228 (GRCm39)	unclassified	probably benign
R2845:Skint10	UTSW	4	112,573,023 (GRCm39)	missense	probably benign	0.00
R3717:Skint10	UTSW	4	112,603,936 (GRCm39)	missense	probably damaging	1.00
R3718:Skint10	UTSW	4	112,603,936 (GRCm39)	missense	probably damaging	1.00
R4349:Skint10	UTSW	4	112,626,968 (GRCm39)	makesense	probably null
R4857:Skint10	UTSW	4	112,603,830 (GRCm39)	missense	possibly damaging	0.92
R4988:Skint10	UTSW	4	112,586,069 (GRCm39)	nonsense	probably null
R5010:Skint10	UTSW	4	112,584,869 (GRCm39)	missense	probably benign	0.14
R5354:Skint10	UTSW	4	112,568,790 (GRCm39)	missense	possibly damaging	0.57
R5567:Skint10	UTSW	4	112,573,067 (GRCm39)	missense	probably damaging	0.98
R5716:Skint10	UTSW	4	112,568,844 (GRCm39)	missense	probably damaging	0.97
R5827:Skint10	UTSW	4	112,603,972 (GRCm39)	missense	probably benign	0.00
R6705:Skint10	UTSW	4	112,630,301 (GRCm39)	intron	probably benign
R7220:Skint10	UTSW	4	112,586,170 (GRCm39)	missense	probably benign	0.00
R7620:Skint10	UTSW	4	112,573,014 (GRCm39)	missense	possibly damaging	0.78
R7724:Skint10	UTSW	4	112,622,289 (GRCm39)	nonsense	probably null
R7827:Skint10	UTSW	4	112,632,003 (GRCm39)	nonsense	probably null
R8007:Skint10	UTSW	4	112,568,865 (GRCm39)	missense	possibly damaging	0.87
R8056:Skint10	UTSW	4	112,573,010 (GRCm39)	missense	probably benign	0.02
R8816:Skint10	UTSW	4	112,603,892 (GRCm39)	missense	probably benign	0.15
R9419:Skint10	UTSW	4	112,572,981 (GRCm39)	missense	probably damaging	1.00
X0028:Skint10	UTSW	4	112,603,862 (GRCm39)	nonsense	probably null

Posted On

2013-01-20