Incidental Mutation 'IGL02253:Slx4ip'
ID 286526
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slx4ip
Ensembl Gene ENSMUSG00000027281
Gene Name SLX4 interacting protein
Synonyms 2410004I22Rik, 2210009G21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02253
Quality Score
Status
Chromosome 2
Chromosomal Location 136733138-136913870 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 136842195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028737] [ENSMUST00000099311] [ENSMUST00000141463] [ENSMUST00000180277]
AlphaFold Q9D7Y9
Predicted Effect probably null
Transcript: ENSMUST00000028737
SMART Domains Protein: ENSMUSP00000028737
Gene: ENSMUSG00000027281

DomainStartEndE-ValueType
low complexity region 271 292 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000099311
SMART Domains Protein: ENSMUSP00000096914
Gene: ENSMUSG00000027281

DomainStartEndE-ValueType
Pfam:UPF0492 10 365 6.4e-170 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135260
Predicted Effect probably null
Transcript: ENSMUST00000141463
Predicted Effect probably null
Transcript: ENSMUST00000180277
SMART Domains Protein: ENSMUSP00000136131
Gene: ENSMUSG00000027281

DomainStartEndE-ValueType
low complexity region 341 362 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,807,182 (GRCm39) E76G probably benign Het
Adamtsl2 A T 2: 26,988,709 (GRCm39) T587S possibly damaging Het
Adgre4 T A 17: 56,067,573 (GRCm39) M9K probably benign Het
Aff2 T A X: 68,874,397 (GRCm39) V447E probably benign Het
Arhgef10l G T 4: 140,271,595 (GRCm39) S425* probably null Het
Cabcoco1 T C 10: 68,272,107 (GRCm39) probably null Het
Calcr T A 6: 3,707,523 (GRCm39) H259L probably benign Het
Cdc42bpa T A 1: 179,859,161 (GRCm39) probably benign Het
Cntnap5b C T 1: 100,091,936 (GRCm39) H540Y possibly damaging Het
Cyp2a22 A T 7: 26,637,662 (GRCm39) probably benign Het
Ddx3x T C X: 13,151,207 (GRCm39) probably benign Het
Dnajc11 T A 4: 152,034,976 (GRCm39) Y28* probably null Het
Dock11 T C X: 35,304,781 (GRCm39) F1472S probably damaging Het
Dusp18 T C 11: 3,847,576 (GRCm39) *189Q probably null Het
Dzip3 A T 16: 48,765,287 (GRCm39) Y476N probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Evc2 T A 5: 37,535,771 (GRCm39) probably benign Het
Fam151b A T 13: 92,614,435 (GRCm39) Y18N probably damaging Het
Gk5 T C 9: 96,019,824 (GRCm39) F120S probably damaging Het
Itprid2 A G 2: 79,490,788 (GRCm39) T969A probably damaging Het
Kcna3 T C 3: 106,944,727 (GRCm39) L330P probably damaging Het
Kctd20 A G 17: 29,180,460 (GRCm39) N7S probably benign Het
Kmt2b G T 7: 30,281,152 (GRCm39) R1276S probably damaging Het
Kmt2d C T 15: 98,756,056 (GRCm39) probably benign Het
L2hgdh G A 12: 69,752,534 (GRCm39) probably benign Het
Lifr T G 15: 7,220,085 (GRCm39) V905G probably damaging Het
Mcm3ap T A 10: 76,305,899 (GRCm39) V4E probably benign Het
Nrip3 A C 7: 109,360,951 (GRCm39) probably null Het
Nsun2 T G 13: 69,767,658 (GRCm39) V204G possibly damaging Het
Nup54 A G 5: 92,565,310 (GRCm39) probably null Het
Or5p69 T A 7: 107,967,261 (GRCm39) V188E possibly damaging Het
Or8c16 T A 9: 38,131,031 (GRCm39) M304K probably benign Het
Pdcl3 A G 1: 39,034,011 (GRCm39) D51G probably benign Het
Pdlim1 T C 19: 40,218,974 (GRCm39) E219G probably damaging Het
Pld4 A C 12: 112,733,141 (GRCm39) K239T probably damaging Het
Rgsl1 T C 1: 153,669,513 (GRCm39) Y291C probably damaging Het
Rnf213 C A 11: 119,331,476 (GRCm39) H2228Q probably benign Het
Rnf222 T A 11: 68,783,862 (GRCm39) I143N probably damaging Het
Sirt7 A G 11: 120,511,693 (GRCm39) I13T probably benign Het
Slfn10-ps A G 11: 82,919,890 (GRCm39) noncoding transcript Het
Spata18 G T 5: 73,825,939 (GRCm39) S164I possibly damaging Het
Spmip2 C A 3: 79,356,741 (GRCm39) probably benign Het
Spmip2 C A 3: 79,356,742 (GRCm39) probably benign Het
Stk26 T C X: 49,975,565 (GRCm39) L212P probably damaging Het
Tmsb15a T C X: 134,620,451 (GRCm39) I56V probably benign Het
Tnrc6b T A 15: 80,760,742 (GRCm39) S150T probably damaging Het
Tubb3 T C 8: 124,147,559 (GRCm39) M164T probably benign Het
Zfp516 A G 18: 83,012,622 (GRCm39) D1125G probably benign Het
Zyg11a A C 4: 108,040,892 (GRCm39) V685G probably null Het
Other mutations in Slx4ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Slx4ip APN 2 136,885,975 (GRCm39) nonsense probably null
IGL01546:Slx4ip APN 2 136,908,119 (GRCm39) missense probably benign
IGL02114:Slx4ip APN 2 136,842,120 (GRCm39) missense probably damaging 1.00
IGL02142:Slx4ip APN 2 136,909,942 (GRCm39) missense possibly damaging 0.87
IGL02826:Slx4ip APN 2 136,846,893 (GRCm39) missense probably damaging 1.00
IGL03035:Slx4ip APN 2 136,909,623 (GRCm39) missense possibly damaging 0.50
IGL03261:Slx4ip APN 2 136,888,659 (GRCm39) missense probably benign 0.01
R0561:Slx4ip UTSW 2 136,908,090 (GRCm39) missense probably null 0.27
R1750:Slx4ip UTSW 2 136,888,669 (GRCm39) missense probably damaging 1.00
R1774:Slx4ip UTSW 2 136,909,643 (GRCm39) missense probably damaging 0.99
R1812:Slx4ip UTSW 2 136,910,115 (GRCm39) missense probably benign 0.13
R1894:Slx4ip UTSW 2 136,910,038 (GRCm39) missense probably benign 0.02
R1961:Slx4ip UTSW 2 136,909,601 (GRCm39) missense probably benign 0.02
R2051:Slx4ip UTSW 2 136,908,125 (GRCm39) missense possibly damaging 0.90
R2263:Slx4ip UTSW 2 136,885,935 (GRCm39) missense probably damaging 1.00
R2914:Slx4ip UTSW 2 136,909,511 (GRCm39) critical splice acceptor site probably null
R3798:Slx4ip UTSW 2 136,909,543 (GRCm39) missense probably benign 0.19
R4061:Slx4ip UTSW 2 136,846,937 (GRCm39) missense probably benign 0.08
R4934:Slx4ip UTSW 2 136,910,267 (GRCm39) utr 3 prime probably benign
R4944:Slx4ip UTSW 2 136,888,687 (GRCm39) missense probably benign 0.17
R5061:Slx4ip UTSW 2 136,885,930 (GRCm39) missense probably damaging 1.00
R5465:Slx4ip UTSW 2 136,846,867 (GRCm39) missense probably damaging 1.00
R5609:Slx4ip UTSW 2 136,842,162 (GRCm39) missense probably damaging 1.00
R6112:Slx4ip UTSW 2 136,888,664 (GRCm39) missense probably damaging 1.00
R6391:Slx4ip UTSW 2 136,888,669 (GRCm39) missense probably damaging 1.00
R6525:Slx4ip UTSW 2 136,842,138 (GRCm39) missense possibly damaging 0.72
R6868:Slx4ip UTSW 2 136,842,130 (GRCm39) missense probably damaging 1.00
R6944:Slx4ip UTSW 2 136,910,195 (GRCm39) missense probably damaging 1.00
R6966:Slx4ip UTSW 2 136,910,144 (GRCm39) missense probably damaging 0.96
R7214:Slx4ip UTSW 2 136,888,650 (GRCm39) missense probably benign 0.15
R7406:Slx4ip UTSW 2 136,842,162 (GRCm39) missense probably damaging 1.00
R7711:Slx4ip UTSW 2 136,909,914 (GRCm39) missense probably damaging 1.00
R8035:Slx4ip UTSW 2 136,885,945 (GRCm39) nonsense probably null
R8181:Slx4ip UTSW 2 136,842,104 (GRCm39) missense probably damaging 1.00
R9032:Slx4ip UTSW 2 136,910,240 (GRCm39) missense possibly damaging 0.91
R9291:Slx4ip UTSW 2 136,888,716 (GRCm39) missense probably benign 0.04
Posted On 2015-04-16