Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03261:Slx4ip'

414802

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slx4ip

Ensembl Gene

ENSMUSG00000027281

Gene Name

SLX4 interacting protein

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03261

Quality Score

Status

Chromosome

Chromosomal Location

136891218-137071950 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 137046739 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 113 (R113S)

Ref Sequence

ENSEMBL: ENSMUSP00000136131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028737] [ENSMUST00000099311] [ENSMUST00000180277]

Predicted Effect

probably benign
Transcript: ENSMUST00000028737

SMART Domains

Protein: ENSMUSP00000028737
Gene: ENSMUSG00000027281

Domain	Start	End	E-Value	Type
low complexity region	271	292	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099311
AA Change: R113S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000096914
Gene: ENSMUSG00000027281
AA Change: R113S

Domain	Start	End	E-Value	Type
Pfam:UPF0492	10	365	6.4e-170	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135260

Predicted Effect

probably benign
Transcript: ENSMUST00000180277
AA Change: R113S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000136131
Gene: ENSMUSG00000027281
AA Change: R113S

Domain	Start	End	E-Value	Type
low complexity region	341	362	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	G	7: 27,580,438	Y281*	probably null	Het
5830411N06Rik	A	G	7: 140,294,833	H408R	probably benign	Het
Adamts3	T	C	5: 89,882,897		probably benign	Het
Afp	T	C	5: 90,491,751		probably null	Het
Ap1g2	T	C	14: 55,100,530	T634A	probably benign	Het
Cidec	A	G	6: 113,433,172	V32A	probably benign	Het
Dip2a	G	A	10: 76,305,148	P315S	possibly damaging	Het
Hoxc11	T	C	15: 102,954,743	V73A	probably benign	Het
Jmjd1c	A	G	10: 67,232,070	Y1784C	probably damaging	Het
Mmp21	A	G	7: 133,674,674	V480A	probably benign	Het
Nek4	C	T	14: 30,975,290	T471I	probably benign	Het
Nr4a2	A	G	2: 57,110,187	V299A	probably benign	Het
Olfr761	A	T	17: 37,952,806	S73T	possibly damaging	Het
Olfr774	A	G	10: 129,238,403	T85A	possibly damaging	Het
Ptprg	A	G	14: 12,225,552	D505G	probably damaging	Het
Rag2	A	G	2: 101,630,263	D306G	probably damaging	Het
Rpap2	T	A	5: 107,598,560	S38T	possibly damaging	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Smyd5	T	A	6: 85,432,018	M5K	probably benign	Het
Stkld1	A	T	2: 26,952,777	H587L	probably benign	Het
Taf4b	A	G	18: 14,821,528	T554A	probably benign	Het
Tex16	C	A	X: 112,118,855	D350E	possibly damaging	Het
Tex38	T	C	4: 115,780,526	K27E	possibly damaging	Het
Trdv4	T	C	14: 54,075,418	L83P	possibly damaging	Het
Ugt2a3	G	A	5: 87,336,580	P195L	probably damaging	Het
Vmn1r120	A	G	7: 21,053,525	L87P	probably damaging	Het
Zfp236	T	C	18: 82,630,608	D916G	possibly damaging	Het

Other mutations in Slx4ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Slx4ip	APN	2	137044055	nonsense	probably null
IGL01546:Slx4ip	APN	2	137066199	missense	probably benign
IGL02114:Slx4ip	APN	2	137000200	missense	probably damaging	1.00
IGL02142:Slx4ip	APN	2	137068022	missense	possibly damaging	0.87
IGL02253:Slx4ip	APN	2	137000275	critical splice donor site	probably null
IGL02826:Slx4ip	APN	2	137004973	missense	probably damaging	1.00
IGL03035:Slx4ip	APN	2	137067703	missense	possibly damaging	0.50
R0561:Slx4ip	UTSW	2	137066170	missense	probably null	0.27
R1750:Slx4ip	UTSW	2	137046749	missense	probably damaging	1.00
R1774:Slx4ip	UTSW	2	137067723	missense	probably damaging	0.99
R1812:Slx4ip	UTSW	2	137068195	missense	probably benign	0.13
R1894:Slx4ip	UTSW	2	137068118	missense	probably benign	0.02
R1961:Slx4ip	UTSW	2	137067681	missense	probably benign	0.02
R2051:Slx4ip	UTSW	2	137066205	missense	possibly damaging	0.90
R2263:Slx4ip	UTSW	2	137044015	missense	probably damaging	1.00
R2914:Slx4ip	UTSW	2	137067591	critical splice acceptor site	probably null
R3798:Slx4ip	UTSW	2	137067623	missense	probably benign	0.19
R4061:Slx4ip	UTSW	2	137005017	missense	probably benign	0.08
R4934:Slx4ip	UTSW	2	137068347	utr 3 prime	probably benign
R4944:Slx4ip	UTSW	2	137046767	missense	probably benign	0.17
R5061:Slx4ip	UTSW	2	137044010	missense	probably damaging	1.00
R5465:Slx4ip	UTSW	2	137004947	missense	probably damaging	1.00
R5609:Slx4ip	UTSW	2	137000242	missense	probably damaging	1.00
R6112:Slx4ip	UTSW	2	137046744	missense	probably damaging	1.00
R6391:Slx4ip	UTSW	2	137046749	missense	probably damaging	1.00
R6525:Slx4ip	UTSW	2	137000218	missense	possibly damaging	0.72
R6868:Slx4ip	UTSW	2	137000210	missense	probably damaging	1.00
R6944:Slx4ip	UTSW	2	137068275	missense	probably damaging	1.00
R6966:Slx4ip	UTSW	2	137068224	missense	probably damaging	0.96
R7214:Slx4ip	UTSW	2	137046730	missense	probably benign	0.15
R7406:Slx4ip	UTSW	2	137000242	missense	probably damaging	1.00
R7711:Slx4ip	UTSW	2	137067994	missense	probably damaging	1.00

Posted On

2016-08-02