Mutagenetix > Incidental Mutations

Incidental Mutation 'R2263:Slx4ip'

243910

Institutional Source

Beutler Lab

Gene Symbol

Slx4ip

Ensembl Gene

ENSMUSG00000027281

Gene Name

SLX4 interacting protein

Synonyms

MMRRC Submission

040263-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2263 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136891218-137071950 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137044015 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 85 (I85T)

Ref Sequence

ENSEMBL: ENSMUSP00000136131 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028737
AA Change: S45P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000028737
Gene: ENSMUSG00000027281
AA Change: S45P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099311
AA Change: I85T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096914
Gene: ENSMUSG00000027281
AA Change: I85T

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 damaging
Transcript: ENSMUST00000180277
AA Change: I85T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136131
Gene: ENSMUSG00000027281
AA Change: I85T

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

Meta Mutation Damage Score

0.1967

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	T	C	7: 29,532,562		noncoding transcript	Het
9130011E15Rik	A	G	19: 45,932,349		probably null	Het
Abca13	T	C	11: 9,274,702	S472P	probably benign	Het
Arsi	T	C	18: 60,916,665	Y207H	probably damaging	Het
Atp2b4	C	T	1: 133,726,533	R778Q	probably benign	Het
Bdp1	T	A	13: 100,066,037	D693V	probably damaging	Het
Car12	C	A	9: 66,747,631	Y114*	probably null	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Col4a1	A	G	8: 11,312,586		probably benign	Het
Cryl1	G	T	14: 57,286,408	Y232*	probably null	Het
Dnah11	T	A	12: 117,880,025	M4362L	probably benign	Het
Dnah11	T	C	12: 117,966,639	T3324A	probably damaging	Het
Dnah8	A	G	17: 30,673,835	N798S	probably damaging	Het
Dok4	A	T	8: 94,866,512	C182S	probably damaging	Het
Ehbp1	A	T	11: 22,095,462	N737K	probably benign	Het
Eif2b4	T	C	5: 31,192,574		probably benign	Het
Fat4	T	C	3: 38,888,989	V677A	possibly damaging	Het
Fbn2	A	G	18: 58,095,176		probably benign	Het
Fbxl3	G	T	14: 103,083,212	Y314*	probably null	Het
Fgf12	T	A	16: 28,189,611	K84*	probably null	Het
Flt3	G	A	5: 147,348,063	P748L	probably benign	Het
Folh1	C	T	7: 86,719,765	S685N	probably benign	Het
Gm13119	A	G	4: 144,363,541	I384V	probably benign	Het
Gpr65	A	T	12: 98,275,235	N49I	probably damaging	Het
Hdac7	A	G	15: 97,810,851		probably null	Het
Heatr5a	A	T	12: 51,916,150	V989E	probably damaging	Het
Ikbkap	A	G	4: 56,755,298		probably null	Het
Kif12	A	G	4: 63,169,521	S242P	probably benign	Het
Ltbp3	G	A	19: 5,754,022	R854Q	probably benign	Het
Mia3	A	G	1: 183,334,793	Y295H	probably benign	Het
Nell1	C	T	7: 50,560,821	T494I	possibly damaging	Het
Nmur2	A	T	11: 56,029,561	V286E	probably damaging	Het
Olfr1378	G	A	11: 50,969,869	V284I	possibly damaging	Het
Olfr20	T	A	11: 73,354,305	L184Q	possibly damaging	Het
Olfr574	T	C	7: 102,949,257	F254S	probably damaging	Het
Pcdh1	A	T	18: 38,198,657	L431H	probably benign	Het
Prex1	A	T	2: 166,589,068		probably benign	Het
Prim1	T	A	10: 128,015,263	D5E	probably benign	Het
Rubcnl	A	T	14: 75,040,820	N348I	possibly damaging	Het
Shisa9	G	T	16: 11,984,767	A63S	possibly damaging	Het
Shpk	G	A	11: 73,206,493		probably benign	Het
Sptbn4	T	A	7: 27,434,357	D77V	probably damaging	Het
Strn3	A	T	12: 51,643,223		probably null	Het
Synrg	T	C	11: 83,977,152	M61T	possibly damaging	Het
Tekt4	T	A	17: 25,476,511	S439R	possibly damaging	Het
Ticam1	A	T	17: 56,271,888	V69E	possibly damaging	Het
Trpv1	C	T	11: 73,241,682	A374V	probably damaging	Het
Ubqln3	A	T	7: 104,141,635	L416*	probably null	Het
Uqcrfs1	G	A	13: 30,541,107	S150L	probably benign	Het
Utp15	T	C	13: 98,257,925	N153S	probably benign	Het
Vmn2r63	G	T	7: 42,928,607	T169N	probably benign	Het
Vps13b	T	A	15: 35,646,181	V1477E	probably benign	Het
Xpo1	T	A	11: 23,284,634		probably null	Het
Xpo5	A	G	17: 46,230,343	I769V	probably benign	Het
Zc3h14	A	T	12: 98,758,514	H252L	probably benign	Het
Zfp410	G	T	12: 84,323,020		probably null	Het
Zfp521	T	C	18: 13,846,240	E372G	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
IGL03261:Slx4ip	APN	2	137046739	missense	probably benign	0.01
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
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
R8035:Slx4ip	UTSW	2	137044025	nonsense	probably null
R8181:Slx4ip	UTSW	2	137000184	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTGATAACATTGCTCTCTCCAC -3'
(R):5'- AGTGCATTGTGGTCCAGCTC -3'

Sequencing Primer
(F):5'- CCACTCATATGAAGTCTCTGTTGG -3'
(R):5'- AGTATTCTGGGAGTTCTGGA -3'

Posted On

2014-10-16