Mutagenetix > Incidental Mutation

Incidental Mutation 'R5897:Skint9'

457578

Institutional Source

Beutler Lab

Gene Symbol

Skint9

Ensembl Gene

ENSMUSG00000049972

Gene Name

selection and upkeep of intraepithelial T cells 9

Synonyms

A030013N09Rik

MMRRC Submission

044096-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R5897 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112243166-112291182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112271113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 99 (I99T)

Ref Sequence

ENSEMBL: ENSMUSP00000052670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058605]

AlphaFold

A7TZG3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058605
AA Change: I99T

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052670
Gene: ENSMUSG00000049972
AA Change: I99T

Domain	Start	End	E-Value	Type
PDB:4F8T\|A	26	125	1e-9	PDB
Blast:IG_like	32	119	8e-12	BLAST
SCOP:d1eula_	154	245	5e-3	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,425,032 (GRCm39)	T489A	possibly damaging	Het
Adam3	T	C	8: 25,187,244 (GRCm39)	T416A	probably benign	Het
Agbl3	A	G	6: 34,780,508 (GRCm39)	I494V	probably benign	Het
Akap9	T	C	5: 4,127,904 (GRCm39)	S3747P	probably benign	Het
Arhgef18	G	T	8: 3,489,682 (GRCm39)	R338L	probably damaging	Het
Atg16l1	G	T	1: 87,713,719 (GRCm39)		probably null	Het
BC024139	A	G	15: 76,010,339 (GRCm39)	S56P	possibly damaging	Het
Ccdc121	T	C	5: 31,643,308 (GRCm39)		probably benign	Het
Ccdc175	T	A	12: 72,206,578 (GRCm39)	I223L	probably benign	Het
Cdcp3	A	T	7: 130,798,280 (GRCm39)		probably null	Het
Cep76	T	A	18: 67,771,398 (GRCm39)	Q78L	probably benign	Het
Cyp20a1	A	C	1: 60,392,220 (GRCm39)	N92T	probably damaging	Het
Cyp2c68	T	C	19: 39,700,975 (GRCm39)	D281G	probably benign	Het
Cyp2j12	T	C	4: 95,990,279 (GRCm39)	N429S	probably damaging	Het
Dchs2	G	A	3: 83,192,717 (GRCm39)	V1721I	possibly damaging	Het
Elovl4	G	A	9: 83,672,157 (GRCm39)	T54M	possibly damaging	Het
Fam13b	A	G	18: 34,587,134 (GRCm39)	V542A	possibly damaging	Het
Gje1	A	T	10: 14,592,467 (GRCm39)	I105N	probably damaging	Het
Grm4	G	T	17: 27,654,137 (GRCm39)	F349L	probably benign	Het
Hsd17b3	A	G	13: 64,236,799 (GRCm39)		probably null	Het
Khdrbs1	A	T	4: 129,614,448 (GRCm39)	D368E	probably benign	Het
Klra10	T	A	6: 130,258,792 (GRCm39)	R32*	probably null	Het
Lrrc7	T	A	3: 157,869,990 (GRCm39)	I644F	probably damaging	Het
Or2i1	A	T	17: 37,508,151 (GRCm39)	L161Q	probably damaging	Het
Or2t1	G	T	14: 14,328,120 (GRCm38)	G3V	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pbx3	A	T	2: 34,261,920 (GRCm39)	S5T	probably benign	Het
Pcdhb13	T	A	18: 37,576,264 (GRCm39)	V214E	probably benign	Het
Pkd1l1	T	C	11: 8,829,176 (GRCm39)	D1022G	probably benign	Het
Pla2g4a	T	A	1: 149,740,899 (GRCm39)	K380I	probably damaging	Het
Prl3b1	A	G	13: 27,429,858 (GRCm39)	T99A	probably benign	Het
Prr12	C	T	7: 44,692,808 (GRCm39)	V1575I	probably damaging	Het
Ptpn5	C	T	7: 46,729,262 (GRCm39)	V451I	probably benign	Het
Rab1a	C	T	11: 20,168,867 (GRCm39)	R51*	probably null	Het
Tbc1d8	A	G	1: 39,431,190 (GRCm39)	V394A	possibly damaging	Het
Tcf20	A	T	15: 82,735,984 (GRCm39)	C1822*	probably null	Het
Tdrd6	T	A	17: 43,935,768 (GRCm39)	D1760V	probably damaging	Het
Tinag	C	A	9: 76,952,726 (GRCm39)	C86F	probably damaging	Het
Tmtc2	A	T	10: 105,249,459 (GRCm39)	N91K	probably damaging	Het
Tmub1	G	A	5: 24,651,925 (GRCm39)	T13M	probably benign	Het
Txn2	G	A	15: 77,808,726 (GRCm39)	A135V	probably benign	Het
Ush2a	G	A	1: 188,553,935 (GRCm39)	G3475R	probably damaging	Het
Usp38	T	C	8: 81,732,082 (GRCm39)	D276G	probably benign	Het
Vax1	T	A	19: 59,158,233 (GRCm39)	I77F	unknown	Het
Vmn2r108	C	T	17: 20,691,580 (GRCm39)	M314I	probably benign	Het
Vmn2r4	C	A	3: 64,322,687 (GRCm39)	G11*	probably null	Het
Zcchc14	T	C	8: 122,331,899 (GRCm39)		probably benign	Het

Other mutations in Skint9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02399:Skint9	APN	4	112,246,447 (GRCm39)	missense	possibly damaging	0.88
IGL02417:Skint9	APN	4	112,271,335 (GRCm39)	splice site	probably benign
IGL03111:Skint9	APN	4	112,248,921 (GRCm39)	missense	probably benign	0.01
land_lubber	UTSW	4	112,248,174 (GRCm39)	nonsense	probably null
R0390:Skint9	UTSW	4	112,246,376 (GRCm39)	missense	probably benign	0.21
R0400:Skint9	UTSW	4	112,271,198 (GRCm39)	missense	probably damaging	1.00
R1606:Skint9	UTSW	4	112,246,398 (GRCm39)	missense	probably benign	0.02
R1757:Skint9	UTSW	4	112,271,159 (GRCm39)	missense	probably benign	0.03
R2431:Skint9	UTSW	4	112,246,464 (GRCm39)	missense	probably damaging	1.00
R3195:Skint9	UTSW	4	112,248,148 (GRCm39)	missense	probably benign	0.37
R3196:Skint9	UTSW	4	112,248,148 (GRCm39)	missense	probably benign	0.37
R4329:Skint9	UTSW	4	112,249,062 (GRCm39)	missense	probably damaging	0.98
R4855:Skint9	UTSW	4	112,248,208 (GRCm39)	missense	probably benign
R4986:Skint9	UTSW	4	112,248,910 (GRCm39)	missense	probably benign	0.00
R5093:Skint9	UTSW	4	112,246,447 (GRCm39)	missense	probably benign	0.01
R5844:Skint9	UTSW	4	112,271,080 (GRCm39)	missense	probably benign	0.01
R7123:Skint9	UTSW	4	112,248,174 (GRCm39)	nonsense	probably null
R7406:Skint9	UTSW	4	112,246,428 (GRCm39)	missense	probably benign	0.00
R7591:Skint9	UTSW	4	112,248,147 (GRCm39)	missense	probably damaging	0.99
R9364:Skint9	UTSW	4	112,248,915 (GRCm39)	missense	probably benign	0.09
R9481:Skint9	UTSW	4	112,248,915 (GRCm39)	missense	probably benign	0.09
R9548:Skint9	UTSW	4	112,276,346 (GRCm39)	missense	probably benign	0.02
R9554:Skint9	UTSW	4	112,248,915 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GCTTACAGCAATTTGAGTCATGTAAC -3'
(R):5'- TTCTCAACTCTTGAACGCACAC -3'

Sequencing Primer
(F):5'- CAGCAATTTGAGTCATGTAACATAAC -3'
(R):5'- GTTCCAGATACAGAAGGACTACTGC -3'

Posted On

2017-02-15