Incidental Mutation 'R5696:Slx4'
ID 450704
Institutional Source Beutler Lab
Gene Symbol Slx4
Ensembl Gene ENSMUSG00000039738
Gene Name SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)
Synonyms D16Bwg1016e, Btbd12
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5696 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 3796969-3821634 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 3797831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 1518 (Q1518K)
Ref Sequence ENSEMBL: ENSMUSP00000038871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040790] [ENSMUST00000180200] [ENSMUST00000177551]
AlphaFold Q6P1D7
Predicted Effect probably damaging
Transcript: ENSMUST00000040790
AA Change: Q1518K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000038871
Gene: ENSMUSG00000039738
AA Change: Q1518K

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: ENSMUST00000096308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145706
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: ENSMUST00000180200
SMART Domains Protein: ENSMUSP00000137325
Gene: ENSMUSG00000049871

DomainStartEndE-ValueType
LRR 4 24 8.65e1 SMART
LRR 25 52 2.27e-4 SMART
LRR 53 80 8.15e-1 SMART
LRR 81 108 2.17e-1 SMART
LRR 109 136 2.12e-4 SMART
LRR 137 164 3.42e0 SMART
LRR 165 192 7.67e-2 SMART
LRR 193 220 3.21e0 SMART
LRR 221 248 1.67e0 SMART
LRR 249 276 4.87e-4 SMART
LRR 277 304 4.3e0 SMART
LRR 305 332 3.8e-6 SMART
LRR 333 360 4.47e-3 SMART
LRR 361 388 1.08e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177551
SMART Domains Protein: ENSMUSP00000137628
Gene: ENSMUSG00000049871

DomainStartEndE-ValueType
Pfam:NACHT 176 342 2e-34 PFAM
LRR 702 729 3.11e-2 SMART
LRR 730 757 2.27e-4 SMART
LRR 758 785 8.15e-1 SMART
LRR 786 813 2.17e-1 SMART
LRR 814 841 2.12e-4 SMART
LRR 842 869 3.42e0 SMART
LRR 870 897 7.67e-2 SMART
LRR 898 925 3.21e0 SMART
LRR 926 953 1.67e0 SMART
LRR 954 981 4.87e-4 SMART
LRR 982 1009 4.3e0 SMART
LRR 1010 1037 3.8e-6 SMART
LRR 1038 1065 4.47e-3 SMART
LRR 1066 1093 1.08e-1 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 G A 7: 139,569,159 (GRCm39) R186W probably benign Het
Afg3l2 A G 18: 67,540,529 (GRCm39) I660T probably damaging Het
Amtn T A 5: 88,532,944 (GRCm39) Y186* probably null Het
Atosa A G 9: 74,917,399 (GRCm39) E666G probably benign Het
Atrip A G 9: 108,894,569 (GRCm39) S453P possibly damaging Het
Bahcc1 T C 11: 120,164,813 (GRCm39) L840P probably damaging Het
Capn2 T C 1: 182,306,165 (GRCm39) E527G possibly damaging Het
Caprin2 A T 6: 148,779,316 (GRCm39) Y164N possibly damaging Het
Ccnh T A 13: 85,344,446 (GRCm39) probably null Het
Cdon G T 9: 35,403,162 (GRCm39) V1091F possibly damaging Het
Ceacam14 A G 7: 17,548,267 (GRCm39) Y119C probably damaging Het
Ces2h A G 8: 105,745,611 (GRCm39) K445E possibly damaging Het
Cfap46 A G 7: 139,191,947 (GRCm39) S2357P probably damaging Het
Commd4 A T 9: 57,063,499 (GRCm39) S86R possibly damaging Het
Cpsf6 A T 10: 117,196,934 (GRCm39) probably benign Het
Dag1 A T 9: 108,086,646 (GRCm39) V165E probably benign Het
Dmxl1 A T 18: 50,065,008 (GRCm39) K2618* probably null Het
Dnah17 A G 11: 117,991,882 (GRCm39) Y1229H probably benign Het
Endov T A 11: 119,382,625 (GRCm39) L24Q probably damaging Het
Fap C T 2: 62,332,803 (GRCm39) V717M probably damaging Het
Fbxl2 A G 9: 113,815,546 (GRCm39) L239P probably damaging Het
Fbxl5 A T 5: 43,916,182 (GRCm39) V367D possibly damaging Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Gbp8 C T 5: 105,166,682 (GRCm39) V216I possibly damaging Het
Gclm G A 3: 122,059,936 (GRCm39) A239T probably benign Het
Gm11569 C T 11: 99,689,556 (GRCm39) probably benign Het
Gnas C A 2: 174,141,468 (GRCm39) probably benign Het
Grb10 T A 11: 11,883,566 (GRCm39) N508I probably benign Het
Gykl1 T G 18: 52,827,267 (GRCm39) I158M probably benign Het
Ide G A 19: 37,295,420 (GRCm39) T214M unknown Het
Il12rb2 T A 6: 67,272,262 (GRCm39) Q341H possibly damaging Het
Ints1 T C 5: 139,740,744 (GRCm39) E1946G probably benign Het
Kdelr3 T C 15: 79,410,100 (GRCm39) probably null Het
Kif1b A C 4: 149,358,306 (GRCm39) probably null Het
Kri1 A G 9: 21,191,533 (GRCm39) I320T probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lin9 T C 1: 180,486,646 (GRCm39) S111P probably benign Het
Lpcat2b C A 5: 107,580,773 (GRCm39) P34Q probably damaging Het
Ltk T A 2: 119,590,080 (GRCm39) T49S probably benign Het
Map3k9 A T 12: 81,780,896 (GRCm39) H421Q probably benign Het
Mapkbp1 T A 2: 119,852,201 (GRCm39) probably null Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Nek10 T A 14: 14,860,736 (GRCm38) probably null Het
Nlrp9b A T 7: 19,758,417 (GRCm39) R551S probably benign Het
Nol4l T C 2: 153,260,026 (GRCm39) T143A probably damaging Het
Or1r1 T C 11: 73,875,362 (GRCm39) H24R possibly damaging Het
Or51g1 T A 7: 102,633,748 (GRCm39) T208S probably benign Het
Or6z5 T C 7: 6,477,742 (GRCm39) probably null Het
Or7a39 A T 10: 78,715,919 (GRCm39) R304S probably benign Het
Pde4dip G T 3: 97,616,806 (GRCm39) A1812D probably damaging Het
Plekhb1 C A 7: 100,305,960 (GRCm39) G26C probably damaging Het
Polr1a T A 6: 71,906,410 (GRCm39) F409I probably benign Het
Ptpn13 T A 5: 103,702,625 (GRCm39) M1197K probably benign Het
Qrich2 T C 11: 116,335,828 (GRCm39) I2114V probably damaging Het
Rbm27 T C 18: 42,450,731 (GRCm39) Y449H probably damaging Het
Rp1l1 A G 14: 64,267,195 (GRCm39) D927G probably damaging Het
Secisbp2 C A 13: 51,833,857 (GRCm39) Q666K probably damaging Het
Slc45a2 T C 15: 11,001,219 (GRCm39) I106T probably damaging Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Son T C 16: 91,468,301 (GRCm39) V306A possibly damaging Het
Stab1 A G 14: 30,882,178 (GRCm39) S506P probably benign Het
Syne2 A C 12: 76,040,919 (GRCm39) D3859A probably benign Het
Tab1 T A 15: 80,032,930 (GRCm39) Y71* probably null Het
Tarbp1 A C 8: 127,174,079 (GRCm39) M909R probably damaging Het
Tex15 T G 8: 34,063,220 (GRCm39) S1157R probably benign Het
Tnni3 G A 7: 4,523,453 (GRCm39) T120I probably benign Het
Ttn T C 2: 76,747,888 (GRCm39) E4387G probably benign Het
Ugt3a1 G A 15: 9,361,534 (GRCm39) silent Het
Unc5d T C 8: 29,156,870 (GRCm39) I783V probably benign Het
Usp40 T C 1: 87,923,474 (GRCm39) T266A probably benign Het
Vmn2r59 C T 7: 41,695,468 (GRCm39) V315I probably benign Het
Zbtb48 G T 4: 152,105,067 (GRCm39) H532N probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y possibly damaging Het
Other mutations in Slx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Slx4 APN 16 3,808,752 (GRCm39) missense probably benign 0.17
IGL01767:Slx4 APN 16 3,808,112 (GRCm39) missense probably benign 0.01
IGL02525:Slx4 APN 16 3,798,461 (GRCm39) missense probably damaging 1.00
slim UTSW 16 3,808,774 (GRCm39) nonsense probably null
R0033:Slx4 UTSW 16 3,805,864 (GRCm39) missense probably benign 0.08
R0070:Slx4 UTSW 16 3,805,880 (GRCm39) missense possibly damaging 0.71
R0070:Slx4 UTSW 16 3,805,880 (GRCm39) missense possibly damaging 0.71
R0242:Slx4 UTSW 16 3,804,816 (GRCm39) missense probably damaging 0.99
R0242:Slx4 UTSW 16 3,804,816 (GRCm39) missense probably damaging 0.99
R0363:Slx4 UTSW 16 3,797,953 (GRCm39) missense probably damaging 1.00
R0433:Slx4 UTSW 16 3,803,882 (GRCm39) missense probably benign 0.01
R0993:Slx4 UTSW 16 3,803,689 (GRCm39) missense probably benign 0.00
R1083:Slx4 UTSW 16 3,808,774 (GRCm39) nonsense probably null
R1373:Slx4 UTSW 16 3,803,374 (GRCm39) missense probably benign 0.02
R1710:Slx4 UTSW 16 3,817,022 (GRCm39) missense probably benign 0.15
R1712:Slx4 UTSW 16 3,809,458 (GRCm39) missense probably damaging 0.99
R1874:Slx4 UTSW 16 3,804,712 (GRCm39) missense probably benign 0.25
R1937:Slx4 UTSW 16 3,805,030 (GRCm39) makesense probably null
R2008:Slx4 UTSW 16 3,797,785 (GRCm39) missense probably damaging 1.00
R2156:Slx4 UTSW 16 3,804,223 (GRCm39) missense probably benign 0.00
R2427:Slx4 UTSW 16 3,806,851 (GRCm39) missense probably damaging 0.99
R3765:Slx4 UTSW 16 3,798,850 (GRCm39) missense probably damaging 1.00
R3890:Slx4 UTSW 16 3,797,773 (GRCm39) missense probably damaging 1.00
R3891:Slx4 UTSW 16 3,797,773 (GRCm39) missense probably damaging 1.00
R4465:Slx4 UTSW 16 3,806,919 (GRCm39) missense possibly damaging 0.82
R4467:Slx4 UTSW 16 3,806,919 (GRCm39) missense possibly damaging 0.82
R4497:Slx4 UTSW 16 3,812,773 (GRCm39) missense probably damaging 1.00
R4882:Slx4 UTSW 16 3,798,860 (GRCm39) critical splice acceptor site probably null
R5119:Slx4 UTSW 16 3,819,063 (GRCm39) missense possibly damaging 0.89
R5384:Slx4 UTSW 16 3,808,669 (GRCm39) missense probably damaging 1.00
R5472:Slx4 UTSW 16 3,809,404 (GRCm39) missense probably benign 0.13
R5578:Slx4 UTSW 16 3,804,726 (GRCm39) missense probably damaging 1.00
R5582:Slx4 UTSW 16 3,803,652 (GRCm39) missense possibly damaging 0.93
R5827:Slx4 UTSW 16 3,819,148 (GRCm39) missense possibly damaging 0.94
R5964:Slx4 UTSW 16 3,818,815 (GRCm39) critical splice donor site probably null
R6032:Slx4 UTSW 16 3,798,021 (GRCm39) missense probably damaging 1.00
R6032:Slx4 UTSW 16 3,798,021 (GRCm39) missense probably damaging 1.00
R6039:Slx4 UTSW 16 3,803,911 (GRCm39) missense possibly damaging 0.82
R6039:Slx4 UTSW 16 3,803,911 (GRCm39) missense possibly damaging 0.82
R6345:Slx4 UTSW 16 3,808,714 (GRCm39) missense probably benign 0.06
R6612:Slx4 UTSW 16 3,803,140 (GRCm39) missense probably damaging 0.99
R6979:Slx4 UTSW 16 3,802,879 (GRCm39) missense probably damaging 0.96
R6989:Slx4 UTSW 16 3,813,702 (GRCm39) missense probably damaging 1.00
R7171:Slx4 UTSW 16 3,808,650 (GRCm39) missense probably benign
R7214:Slx4 UTSW 16 3,806,844 (GRCm39) missense probably benign 0.18
R7354:Slx4 UTSW 16 3,804,963 (GRCm39) missense probably benign 0.28
R7490:Slx4 UTSW 16 3,797,995 (GRCm39) missense possibly damaging 0.91
R7545:Slx4 UTSW 16 3,817,164 (GRCm39) missense probably benign 0.11
R7547:Slx4 UTSW 16 3,803,436 (GRCm39) missense probably benign 0.05
R7790:Slx4 UTSW 16 3,804,846 (GRCm39) missense probably benign 0.03
R8119:Slx4 UTSW 16 3,803,136 (GRCm39) nonsense probably null
R8815:Slx4 UTSW 16 3,803,458 (GRCm39) missense probably benign 0.26
R8955:Slx4 UTSW 16 3,808,111 (GRCm39) missense probably benign
R9205:Slx4 UTSW 16 3,805,927 (GRCm39) missense possibly damaging 0.74
R9321:Slx4 UTSW 16 3,804,654 (GRCm39) missense probably benign 0.06
R9364:Slx4 UTSW 16 3,805,820 (GRCm39) missense probably benign 0.00
R9544:Slx4 UTSW 16 3,797,917 (GRCm39) missense probably damaging 0.97
R9554:Slx4 UTSW 16 3,805,820 (GRCm39) missense probably benign 0.00
R9632:Slx4 UTSW 16 3,803,969 (GRCm39) missense probably benign 0.00
R9665:Slx4 UTSW 16 3,806,890 (GRCm39) missense probably benign 0.28
R9718:Slx4 UTSW 16 3,804,328 (GRCm39) missense possibly damaging 0.73
R9772:Slx4 UTSW 16 3,818,849 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TTATGCTAGGTGCCCAGGTC -3'
(R):5'- CTCCTCTGCTGAGTTTGGAG -3'

Sequencing Primer
(F):5'- AGGTCCTCTGGCAGGTCTAC -3'
(R):5'- CTGCGTTTGAGTATTCAGATGAAGAC -3'
Posted On 2017-01-03