Incidental Mutation 'IGL01767:Slx4'
ID 153382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slx4
Ensembl Gene ENSMUSG00000039738
Gene Name SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)
Synonyms Btbd12, D16Bwg1016e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01767
Quality Score
Status
Chromosome 16
Chromosomal Location 3979105-4003770 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3990248 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 481 (K481E)
Ref Sequence ENSEMBL: ENSMUSP00000038871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040790]
AlphaFold Q6P1D7
Predicted Effect probably benign
Transcript: ENSMUST00000040790
AA Change: K481E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000038871
Gene: ENSMUSG00000039738
AA Change: K481E

DomainStartEndE-ValueType
low complexity region 400 413 N/A INTRINSIC
BTB 506 609 6.15e-7 SMART
low complexity region 651 667 N/A INTRINSIC
low complexity region 833 849 N/A INTRINSIC
low complexity region 857 875 N/A INTRINSIC
low complexity region 1176 1192 N/A INTRINSIC
low complexity region 1437 1461 N/A INTRINSIC
Pfam:Slx4 1484 1541 3e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128980
Predicted Effect probably benign
Transcript: ENSMUST00000146569
SMART Domains Protein: ENSMUSP00000126423
Gene: ENSMUSG00000039738

DomainStartEndE-ValueType
Pfam:BTB 6 102 6.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156542
Predicted Effect probably benign
Transcript: ENSMUST00000165830
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein containing a BTB (POZ) domain that comprises a subunit of structure-specific endonucleases. The encoded protein aids in the resolution of DNA secondary structures that arise during the processes of DNA repair and recombination. Knock out of this gene in mouse recapitulates the phenotype of the human disease Fanconi anemia, including blood cytopenia and susceptibility to genomic instability. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit some preweaning lethality, reduced fertility, abnormal eye morphology, abnormal skeletal morphology, hydrocephalus, chromosomal instability, early cellular replicative senescence, and abnormal lymphopoeisis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat A T 8: 60,507,092 (GRCm38) D31V probably damaging Het
Acaca A T 11: 84,320,542 (GRCm38) Y1560F probably benign Het
Actl7a A G 4: 56,743,980 (GRCm38) E169G probably damaging Het
Adgrb3 A G 1: 25,559,814 (GRCm38) V270A probably benign Het
Adgre4 G A 17: 55,797,740 (GRCm38) V269I probably benign Het
Ankhd1 A G 18: 36,648,374 (GRCm38) T2160A probably damaging Het
Bltp1 T C 3: 37,041,363 (GRCm38) V4505A probably benign Het
Bnip2 T A 9: 70,002,116 (GRCm38) probably benign Het
Casp16 A G 17: 23,552,053 (GRCm38) V126A probably damaging Het
Ccser1 C A 6: 61,718,152 (GRCm38) T157K probably benign Het
Cdh23 A G 10: 60,315,724 (GRCm38) S2459P probably damaging Het
Cdk5rap3 A T 11: 96,913,465 (GRCm38) C21S probably damaging Het
Chmp6 G A 11: 119,916,986 (GRCm38) E72K probably benign Het
Cldn23 T C 8: 35,825,662 (GRCm38) Y224C probably damaging Het
Cry1 C T 10: 85,146,474 (GRCm38) G336D probably damaging Het
Cyp4f17 T A 17: 32,506,982 (GRCm38) F30I probably benign Het
Dgcr8 T A 16: 18,278,336 (GRCm38) D496V probably damaging Het
Dhx9 A G 1: 153,468,868 (GRCm38) probably benign Het
Dnah10 C T 5: 124,743,737 (GRCm38) probably benign Het
Dock9 T C 14: 121,622,870 (GRCm38) E880G possibly damaging Het
Dscam A G 16: 96,654,936 (GRCm38) V1264A probably damaging Het
Eno1 T C 4: 150,246,710 (GRCm38) Y270H probably benign Het
Eprs1 A G 1: 185,384,915 (GRCm38) D385G probably damaging Het
Ercc2 A G 7: 19,390,421 (GRCm38) Y215C probably damaging Het
Fscn2 A G 11: 120,367,750 (GRCm38) N400S possibly damaging Het
Fuca1 C T 4: 135,939,201 (GRCm38) T449I probably benign Het
Gm43638 T C 5: 87,465,431 (GRCm38) K492E probably damaging Het
Gm5263 T G 1: 146,420,564 (GRCm38) noncoding transcript Het
Gm8122 T C 14: 43,232,701 (GRCm38) T111A unknown Het
Gtf3c2 T A 5: 31,157,635 (GRCm38) N923Y probably benign Het
Il17a T A 1: 20,733,640 (GRCm38) D86E probably benign Het
Itgb2l G T 16: 96,430,575 (GRCm38) N330K probably benign Het
Kcnj11 T C 7: 46,099,065 (GRCm38) H278R probably benign Het
Khdrbs2 T A 1: 32,619,176 (GRCm38) Y272* probably null Het
Kndc1 A T 7: 139,930,046 (GRCm38) Q1267L probably damaging Het
Loxhd1 T A 18: 77,286,424 (GRCm38) F64I possibly damaging Het
Lrig2 T A 3: 104,491,545 (GRCm38) K222N probably benign Het
Lrrcc1 T A 3: 14,547,272 (GRCm38) Y378N probably damaging Het
Mblac2 T C 13: 81,750,315 (GRCm38) L270P probably damaging Het
Med13 A T 11: 86,319,783 (GRCm38) I511N probably benign Het
Myo3a A T 2: 22,423,222 (GRCm38) E763D probably damaging Het
Or1e25 T A 11: 73,603,032 (GRCm38) F151I probably benign Het
Or2n1 G T 17: 38,175,686 (GRCm38) V201L probably benign Het
Or4a68 C T 2: 89,439,800 (GRCm38) V160I probably benign Het
Or5b97 T A 19: 12,901,748 (GRCm38) T11S probably benign Het
Or7g27 G A 9: 19,339,302 (GRCm38) V281I possibly damaging Het
Plxna4 T A 6: 32,237,678 (GRCm38) I623F possibly damaging Het
Ppp2ca T A 11: 52,118,055 (GRCm38) Y127* probably null Het
Psg18 A G 7: 18,353,397 (GRCm38) V112A possibly damaging Het
Ptprj A T 2: 90,469,574 (GRCm38) N108K probably benign Het
Rictor A G 15: 6,777,384 (GRCm38) Y707C probably damaging Het
Rptn T C 3: 93,395,639 (GRCm38) F93S probably benign Het
Rxrg T A 1: 167,627,315 (GRCm38) C156S probably damaging Het
Slc24a4 T C 12: 102,223,687 (GRCm38) probably benign Het
Slc25a27 C T 17: 43,664,073 (GRCm38) probably null Het
Snx19 T C 9: 30,463,264 (GRCm38) W940R possibly damaging Het
Spopfm1 T A 3: 94,266,484 (GRCm38) D262E probably benign Het
Tasor2 G A 13: 3,576,633 (GRCm38) P1106S probably benign Het
Tcf20 G A 15: 82,856,008 (GRCm38) P414L probably damaging Het
Treml2 T C 17: 48,302,810 (GRCm38) V90A probably benign Het
Uckl1 C T 2: 181,569,534 (GRCm38) V501M probably damaging Het
Unc79 C T 12: 103,141,997 (GRCm38) T1937I probably damaging Het
Vmn2r17 A T 5: 109,420,037 (GRCm38) I9F probably benign Het
Vmn2r44 T C 7: 8,380,238 (GRCm38) H119R probably benign Het
Vmn2r78 A G 7: 86,954,435 (GRCm38) D607G probably benign Het
Vps13a C T 19: 16,663,894 (GRCm38) G2288D probably damaging Het
Znfx1 G T 2: 167,055,723 (GRCm38) T427N probably damaging Het
Other mutations in Slx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Slx4 APN 16 3,990,888 (GRCm38) missense probably benign 0.17
IGL02525:Slx4 APN 16 3,980,597 (GRCm38) missense probably damaging 1.00
slim UTSW 16 3,990,910 (GRCm38) nonsense probably null
R0033:Slx4 UTSW 16 3,988,000 (GRCm38) missense probably benign 0.08
R0070:Slx4 UTSW 16 3,988,016 (GRCm38) missense possibly damaging 0.71
R0070:Slx4 UTSW 16 3,988,016 (GRCm38) missense possibly damaging 0.71
R0242:Slx4 UTSW 16 3,986,952 (GRCm38) missense probably damaging 0.99
R0242:Slx4 UTSW 16 3,986,952 (GRCm38) missense probably damaging 0.99
R0363:Slx4 UTSW 16 3,980,089 (GRCm38) missense probably damaging 1.00
R0433:Slx4 UTSW 16 3,986,018 (GRCm38) missense probably benign 0.01
R0993:Slx4 UTSW 16 3,985,825 (GRCm38) missense probably benign 0.00
R1083:Slx4 UTSW 16 3,990,910 (GRCm38) nonsense probably null
R1373:Slx4 UTSW 16 3,985,510 (GRCm38) missense probably benign 0.02
R1710:Slx4 UTSW 16 3,999,158 (GRCm38) missense probably benign 0.15
R1712:Slx4 UTSW 16 3,991,594 (GRCm38) missense probably damaging 0.99
R1874:Slx4 UTSW 16 3,986,848 (GRCm38) missense probably benign 0.25
R1937:Slx4 UTSW 16 3,987,166 (GRCm38) makesense probably null
R2008:Slx4 UTSW 16 3,979,921 (GRCm38) missense probably damaging 1.00
R2156:Slx4 UTSW 16 3,986,359 (GRCm38) missense probably benign 0.00
R2427:Slx4 UTSW 16 3,988,987 (GRCm38) missense probably damaging 0.99
R3765:Slx4 UTSW 16 3,980,986 (GRCm38) missense probably damaging 1.00
R3890:Slx4 UTSW 16 3,979,909 (GRCm38) missense probably damaging 1.00
R3891:Slx4 UTSW 16 3,979,909 (GRCm38) missense probably damaging 1.00
R4465:Slx4 UTSW 16 3,989,055 (GRCm38) missense possibly damaging 0.82
R4467:Slx4 UTSW 16 3,989,055 (GRCm38) missense possibly damaging 0.82
R4497:Slx4 UTSW 16 3,994,909 (GRCm38) missense probably damaging 1.00
R4882:Slx4 UTSW 16 3,980,996 (GRCm38) critical splice acceptor site probably null
R5119:Slx4 UTSW 16 4,001,199 (GRCm38) missense possibly damaging 0.89
R5384:Slx4 UTSW 16 3,990,805 (GRCm38) missense probably damaging 1.00
R5472:Slx4 UTSW 16 3,991,540 (GRCm38) missense probably benign 0.13
R5578:Slx4 UTSW 16 3,986,862 (GRCm38) missense probably damaging 1.00
R5582:Slx4 UTSW 16 3,985,788 (GRCm38) missense possibly damaging 0.93
R5696:Slx4 UTSW 16 3,979,967 (GRCm38) missense probably damaging 1.00
R5827:Slx4 UTSW 16 4,001,284 (GRCm38) missense possibly damaging 0.94
R5964:Slx4 UTSW 16 4,000,951 (GRCm38) critical splice donor site probably null
R6032:Slx4 UTSW 16 3,980,157 (GRCm38) missense probably damaging 1.00
R6032:Slx4 UTSW 16 3,980,157 (GRCm38) missense probably damaging 1.00
R6039:Slx4 UTSW 16 3,986,047 (GRCm38) missense possibly damaging 0.82
R6039:Slx4 UTSW 16 3,986,047 (GRCm38) missense possibly damaging 0.82
R6345:Slx4 UTSW 16 3,990,850 (GRCm38) missense probably benign 0.06
R6612:Slx4 UTSW 16 3,985,276 (GRCm38) missense probably damaging 0.99
R6979:Slx4 UTSW 16 3,985,015 (GRCm38) missense probably damaging 0.96
R6989:Slx4 UTSW 16 3,995,838 (GRCm38) missense probably damaging 1.00
R7171:Slx4 UTSW 16 3,990,786 (GRCm38) missense probably benign
R7214:Slx4 UTSW 16 3,988,980 (GRCm38) missense probably benign 0.18
R7354:Slx4 UTSW 16 3,987,099 (GRCm38) missense probably benign 0.28
R7490:Slx4 UTSW 16 3,980,131 (GRCm38) missense possibly damaging 0.91
R7545:Slx4 UTSW 16 3,999,300 (GRCm38) missense probably benign 0.11
R7547:Slx4 UTSW 16 3,985,572 (GRCm38) missense probably benign 0.05
R7790:Slx4 UTSW 16 3,986,982 (GRCm38) missense probably benign 0.03
R8119:Slx4 UTSW 16 3,985,272 (GRCm38) nonsense probably null
R8815:Slx4 UTSW 16 3,985,594 (GRCm38) missense probably benign 0.26
R8955:Slx4 UTSW 16 3,990,247 (GRCm38) missense probably benign
R9205:Slx4 UTSW 16 3,988,063 (GRCm38) missense possibly damaging 0.74
R9321:Slx4 UTSW 16 3,986,790 (GRCm38) missense probably benign 0.06
R9364:Slx4 UTSW 16 3,987,956 (GRCm38) missense probably benign 0.00
R9544:Slx4 UTSW 16 3,980,053 (GRCm38) missense probably damaging 0.97
R9554:Slx4 UTSW 16 3,987,956 (GRCm38) missense probably benign 0.00
R9632:Slx4 UTSW 16 3,986,105 (GRCm38) missense probably benign 0.00
R9665:Slx4 UTSW 16 3,989,026 (GRCm38) missense probably benign 0.28
R9718:Slx4 UTSW 16 3,986,464 (GRCm38) missense possibly damaging 0.73
R9772:Slx4 UTSW 16 4,000,985 (GRCm38) missense
Posted On 2014-02-04