Mutagenetix > Incidental Mutation

Incidental Mutation 'R8742:Skint11'

663276

Institutional Source

Beutler Lab

Gene Symbol

Skint11

Ensembl Gene

ENSMUSG00000057977

Gene Name

selection and upkeep of intraepithelial T cells 11

Synonyms

A630098G03Rik

MMRRC Submission

068587-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8742 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114020581-114102225 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114051922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 90 (I90T)

Ref Sequence

ENSEMBL: ENSMUSP00000127138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079915] [ENSMUST00000145797] [ENSMUST00000151810] [ENSMUST00000164297]

AlphaFold

A7XV14

Predicted Effect

probably benign
Transcript: ENSMUST00000079915

SMART Domains

Protein: ENSMUSP00000078836
Gene: ENSMUSG00000057977

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
transmembrane domain	37	59	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000145797
AA Change: I90T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118895
Gene: ENSMUSG00000057977
AA Change: I90T

Domain	Start	End	E-Value	Type
Pfam:C2-set_2	29	113	6.4e-7	PFAM
transmembrane domain	138	160	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000151810
AA Change: I64T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119157
Gene: ENSMUSG00000057977
AA Change: I64T

Domain	Start	End	E-Value	Type
Pfam:C2-set_2	3	87	6e-7	PFAM
transmembrane domain	112	134	N/A	INTRINSIC
transmembrane domain	161	183	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164297
AA Change: I90T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127138
Gene: ENSMUSG00000057977
AA Change: I90T

Domain	Start	End	E-Value	Type
PDB:4F8T\|A	19	125	6e-9	PDB
Blast:IG_like	40	119	1e-10	BLAST
transmembrane domain	138	160	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC
transmembrane domain	224	246	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,265,835 (GRCm39)	I893V	probably benign	Het
Adhfe1	A	G	1: 9,630,401 (GRCm39)	I317V	probably benign	Het
Adnp2	A	G	18: 80,171,556 (GRCm39)	V951A	probably damaging	Het
Ankrd35	T	A	3: 96,586,502 (GRCm39)	H59Q	probably damaging	Het
Atg16l1	C	T	1: 87,694,620 (GRCm39)	T161I	probably damaging	Het
Axl	A	G	7: 25,463,861 (GRCm39)	V591A	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Cdcp3	A	G	7: 130,783,741 (GRCm39)	I45V	unknown	Het
Ceacam13	T	A	7: 17,743,934 (GRCm39)	S14T	probably damaging	Het
Cfh	A	T	1: 140,029,390 (GRCm39)	F986L	probably damaging	Het
Cfh	G	T	1: 140,064,469 (GRCm39)	T393K	probably damaging	Het
Clic1	A	G	17: 35,274,356 (GRCm39)	N179S	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dst	T	A	1: 34,251,425 (GRCm39)	D2159E	probably benign	Het
Epn3	T	G	11: 94,386,921 (GRCm39)	T150P	probably damaging	Het
Fgr	T	C	4: 132,724,828 (GRCm39)	Y310H	probably damaging	Het
Filip1l	A	G	16: 57,391,593 (GRCm39)	Y727C	probably damaging	Het
Fis1	G	T	5: 136,982,365 (GRCm39)		probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gdf10	A	T	14: 33,654,426 (GRCm39)	H311L	probably benign	Het
Gphn	C	T	12: 78,659,766 (GRCm39)	R423C	probably damaging	Het
Gpr132	T	C	12: 112,819,517 (GRCm39)		probably benign	Het
Herc2	C	A	7: 55,744,143 (GRCm39)	T406K	probably benign	Het
Hpf1	T	C	8: 61,346,748 (GRCm39)	V21A	probably benign	Het
Ifitm6	A	G	7: 140,596,008 (GRCm39)	I75T	probably benign	Het
Itgax	A	T	7: 127,743,795 (GRCm39)	H852L	probably benign	Het
Klhl3	T	C	13: 58,159,021 (GRCm39)	Y546C	probably damaging	Het
Lbr	A	G	1: 181,644,571 (GRCm39)	L578P	possibly damaging	Het
Ltbp1	A	G	17: 75,617,217 (GRCm39)	Y734C	probably damaging	Het
Mapre2	C	A	18: 24,016,688 (GRCm39)	H281N	probably benign	Het
Mcm4	T	C	16: 15,443,430 (GRCm39)	D831G	possibly damaging	Het
Mlf1	G	A	3: 67,305,119 (GRCm39)	A207T	probably damaging	Het
Mslnl	A	T	17: 25,964,047 (GRCm39)	I459F	probably damaging	Het
Mtnr1a	A	G	8: 45,540,720 (GRCm39)	D227G	probably benign	Het
Ncapg	T	A	5: 45,851,216 (GRCm39)	L803Q	probably damaging	Het
Nr3c2	T	G	8: 77,635,210 (GRCm39)	S104A	probably damaging	Het
Or4k52	A	G	2: 111,610,910 (GRCm39)	I82V	probably benign	Het
Pard3	C	T	8: 128,050,592 (GRCm39)	A218V	possibly damaging	Het
Poteg	A	T	8: 27,984,957 (GRCm39)	N439Y	possibly damaging	Het
Pramel34	T	A	5: 93,785,935 (GRCm39)	D115V	probably damaging	Het
Ret	A	T	6: 118,155,484 (GRCm39)	L404Q	probably damaging	Het
Ripk4	A	T	16: 97,556,272 (GRCm39)	V157D	probably damaging	Het
Rsf1	CGGCGGCGGCGGCGGCGGCGGC	CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,121 (GRCm39)		probably benign	Het
Serinc1	A	T	10: 57,395,895 (GRCm39)	N298K	probably benign	Het
Sh3pxd2a	G	A	19: 47,275,073 (GRCm39)	S230L	probably benign	Het
Shb	G	C	4: 45,458,319 (GRCm39)	R282G	probably benign	Het
Slc36a4	A	G	9: 15,632,039 (GRCm39)	T72A	probably damaging	Het
Slc38a9	T	A	13: 112,865,818 (GRCm39)	I505K	probably damaging	Het
Sprr3	C	T	3: 92,364,307 (GRCm39)	R179H	possibly damaging	Het
Syne1	A	T	10: 5,058,661 (GRCm39)	I7284N	probably benign	Het
Timeless	A	T	10: 128,083,107 (GRCm39)	T648S	probably benign	Het
Trim44	A	G	2: 102,230,521 (GRCm39)	M170T	possibly damaging	Het
Trpm7	A	G	2: 126,667,469 (GRCm39)	F815L	probably damaging	Het
Uimc1	A	G	13: 55,240,971 (GRCm39)	L39S	possibly damaging	Het
Vmn2r13	T	C	5: 109,304,263 (GRCm39)	T723A	probably benign	Het
Vps11	A	G	9: 44,267,070 (GRCm39)		probably benign	Het
Zp3r	A	T	1: 130,511,230 (GRCm39)	C383S	probably damaging	Het

Other mutations in Skint11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Skint11	APN	4	114,051,906 (GRCm39)	missense	probably benign	0.03
IGL00775:Skint11	APN	4	114,051,889 (GRCm39)	missense	probably damaging	1.00
IGL02186:Skint11	APN	4	114,101,833 (GRCm39)	missense	possibly damaging	0.82
IGL02499:Skint11	APN	4	114,051,801 (GRCm39)	missense	probably benign	0.01
IGL02622:Skint11	APN	4	114,051,925 (GRCm39)	missense	probably damaging	1.00
IGL03115:Skint11	APN	4	114,101,820 (GRCm39)	missense	probably damaging	0.99
R0513:Skint11	UTSW	4	114,051,762 (GRCm39)	missense	probably benign	0.00
R0928:Skint11	UTSW	4	114,101,798 (GRCm39)	missense	possibly damaging	0.95
R1486:Skint11	UTSW	4	114,052,015 (GRCm39)	critical splice donor site	probably null
R1508:Skint11	UTSW	4	114,088,963 (GRCm39)	critical splice donor site	probably null
R1667:Skint11	UTSW	4	114,051,978 (GRCm39)	missense	probably damaging	0.99
R1807:Skint11	UTSW	4	114,051,893 (GRCm39)	missense	probably benign	0.08
R2504:Skint11	UTSW	4	114,086,009 (GRCm39)	missense	possibly damaging	0.55
R4165:Skint11	UTSW	4	114,101,856 (GRCm39)	missense	probably benign	0.00
R4166:Skint11	UTSW	4	114,101,856 (GRCm39)	missense	probably benign	0.00
R4231:Skint11	UTSW	4	114,101,856 (GRCm39)	missense	probably benign	0.00
R4233:Skint11	UTSW	4	114,101,856 (GRCm39)	missense	probably benign	0.00
R4234:Skint11	UTSW	4	114,101,856 (GRCm39)	missense	probably benign	0.00
R4236:Skint11	UTSW	4	114,101,856 (GRCm39)	missense	probably benign	0.00
R4756:Skint11	UTSW	4	114,051,874 (GRCm39)	missense	probably benign	0.30
R4947:Skint11	UTSW	4	114,048,707 (GRCm39)	missense	possibly damaging	0.89
R5237:Skint11	UTSW	4	114,102,042 (GRCm39)	missense	possibly damaging	0.66
R5538:Skint11	UTSW	4	114,088,959 (GRCm39)	missense	probably damaging	0.99
R5555:Skint11	UTSW	4	114,051,798 (GRCm39)	missense	probably benign	0.03
R6004:Skint11	UTSW	4	114,088,925 (GRCm39)	missense	probably benign	0.37
R6209:Skint11	UTSW	4	114,101,907 (GRCm39)	missense	possibly damaging	0.73
R7121:Skint11	UTSW	4	114,084,993 (GRCm39)	missense	probably benign	0.05
R7208:Skint11	UTSW	4	114,088,944 (GRCm39)	missense	probably damaging	1.00
R7348:Skint11	UTSW	4	114,101,919 (GRCm39)	missense	probably benign	0.15
R7763:Skint11	UTSW	4	114,084,905 (GRCm39)	missense	probably benign	0.00
R7842:Skint11	UTSW	4	114,101,968 (GRCm39)	missense	possibly damaging	0.83
R7846:Skint11	UTSW	4	114,102,076 (GRCm39)	missense	possibly damaging	0.92
R8054:Skint11	UTSW	4	114,101,806 (GRCm39)	missense	possibly damaging	0.55
R8710:Skint11	UTSW	4	114,051,951 (GRCm39)	missense	probably benign	0.10
Z1176:Skint11	UTSW	4	114,088,878 (GRCm39)	missense	probably damaging	0.96
Z1176:Skint11	UTSW	4	114,051,969 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTGGATATACAGATAAACACCC -3'
(R):5'- ACTCAAATAGTGCAGCTCTGTAGC -3'

Sequencing Primer
(F):5'- CCCAGATTCCAGATACAGAAGAAGG -3'
(R):5'- CTGTAGCAATTTGTAGCATGTAATG -3'

Posted On

2021-03-08