Mutagenetix > Incidental Mutation

Incidental Mutation 'R2431:Skint9'

250393

Institutional Source

Beutler Lab

Gene Symbol

Skint9

Ensembl Gene

ENSMUSG00000049972

Gene Name

selection and upkeep of intraepithelial T cells 9

Synonyms

A030013N09Rik

MMRRC Submission

040392-MU

Accession Numbers

Essential gene?

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

Stock #

R2431 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112243166-112291182 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112246464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 216 (D216V)

Ref Sequence

ENSEMBL: ENSMUSP00000052670 (fasta)

Gene Model

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

AlphaFold

A7TZG3

Predicted Effect

probably damaging
Transcript: ENSMUST00000058605
AA Change: D216V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052670
Gene: ENSMUSG00000049972
AA Change: D216V

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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap23	T	C	11: 97,343,230 (GRCm39)	V504A	probably benign	Het
Atr	T	G	9: 95,744,945 (GRCm39)	N87K	probably benign	Het
Auts2	A	T	5: 132,287,887 (GRCm39)	L32*	probably null	Het
Bptf	A	G	11: 106,938,066 (GRCm39)	V2675A	possibly damaging	Het
Brdt	C	T	5: 107,525,881 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,445,841 (GRCm39)	K444E	probably benign	Het
Cnot1	T	C	8: 96,501,280 (GRCm39)	D96G	probably damaging	Het
Cpq	C	A	15: 33,594,265 (GRCm39)	Y425*	probably null	Het
Eri1	A	G	8: 35,943,632 (GRCm39)	Y221H	probably damaging	Het
Fbln2	A	G	6: 91,246,955 (GRCm39)	E1065G	probably damaging	Het
Focad	T	C	4: 88,249,264 (GRCm39)	V837A	unknown	Het
Ica1	G	A	6: 8,658,265 (GRCm39)	T284I	probably benign	Het
Isg15	C	T	4: 156,285,158 (GRCm39)		probably null	Het
Ltbp4	T	C	7: 27,019,101 (GRCm39)	T1073A	possibly damaging	Het
Mmp16	A	T	4: 18,054,491 (GRCm39)	R332S	probably benign	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Or2a25	T	C	6: 42,888,946 (GRCm39)	L163S	probably damaging	Het
Or2ag19	T	C	7: 106,444,598 (GRCm39)	V260A	possibly damaging	Het
Or5b21	T	C	19: 12,839,970 (GRCm39)	V277A	probably damaging	Het
Or7g12	A	G	9: 18,899,299 (GRCm39)	N5S	probably damaging	Het
Piezo2	T	C	18: 63,378,695 (GRCm39)	H78R	possibly damaging	Het
Pkd1l1	T	C	11: 8,897,197 (GRCm39)	N121D	probably damaging	Het
Pkhd1	T	C	1: 20,271,389 (GRCm39)	T3055A	possibly damaging	Het
Ppp5c	C	T	7: 16,749,350 (GRCm39)	V160M	probably damaging	Het
Ptpn23	G	A	9: 110,215,347 (GRCm39)	R1438*	probably null	Het
Ptpro	G	A	6: 137,420,583 (GRCm39)	W183*	probably null	Het
Pygm	T	C	19: 6,443,815 (GRCm39)	M592T	probably damaging	Het
Qdpr	A	G	5: 45,602,072 (GRCm39)	V68A	probably damaging	Het
Rfc5	A	C	5: 117,523,523 (GRCm39)	S92A	probably damaging	Het
Ripor3	T	C	2: 167,831,715 (GRCm39)	Q362R	probably benign	Het
Ror1	G	A	4: 100,298,352 (GRCm39)	C575Y	probably damaging	Het
Sox6	T	C	7: 115,149,242 (GRCm39)		probably null	Het
Ugp2	A	T	11: 21,279,025 (GRCm39)	V387D	probably damaging	Het
Umodl1	T	C	17: 31,211,062 (GRCm39)	S747P	possibly damaging	Het
Vtcn1	A	T	3: 100,732,893 (GRCm39)	I7F	possibly damaging	Het
Zfp507	C	T	7: 35,494,827 (GRCm39)	R72H	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
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
R5897:Skint9	UTSW	4	112,271,113 (GRCm39)	missense	possibly damaging	0.95
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'- TCAAGAGACTTGAAGTACCCTG -3'
(R):5'- ATGGCTCAGACCAAACTGC -3'

Sequencing Primer
(F):5'- ACTTGAAGTACCCTGGAGATCCTTG -3'
(R):5'- CTGCAAAGCTTTGTCATAGAACC -3'

Posted On

2014-11-12