Incidental Mutation 'R7490:Slx4'
ID 580710
Institutional Source Beutler Lab
Gene Symbol Slx4
Ensembl Gene ENSMUSG00000039738
Gene Name SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)
Synonyms D16Bwg1016e, Btbd12
MMRRC Submission 045564-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7490 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 3796969-3821634 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3797995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1463 (E1463G)
Ref Sequence ENSEMBL: ENSMUSP00000038871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040790] [ENSMUST00000177551] [ENSMUST00000180200]
AlphaFold Q6P1D7
Predicted Effect possibly damaging
Transcript: ENSMUST00000040790
AA Change: E1463G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038871
Gene: ENSMUSG00000039738
AA Change: E1463G

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 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: 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
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,202,389 (GRCm39) D132G possibly damaging Het
Abca5 T C 11: 110,168,437 (GRCm39) E1424G possibly damaging Het
Adamts4 C T 1: 171,084,169 (GRCm39) Q549* probably null Het
Adcy4 A G 14: 56,007,890 (GRCm39) I893T possibly damaging Het
Ago1 A T 4: 126,333,298 (GRCm39) *858R probably null Het
Ank2 T A 3: 126,752,538 (GRCm39) I393L probably damaging Het
Ankrd44 T C 1: 54,687,459 (GRCm39) T987A probably benign Het
Ap2a1 G T 7: 44,552,213 (GRCm39) N790K probably benign Het
Aqr A G 2: 113,989,349 (GRCm39) probably null Het
Arel1 G T 12: 84,988,685 (GRCm39) F21L probably damaging Het
Atp1a3 T C 7: 24,686,895 (GRCm39) D743G probably damaging Het
Atp9a A T 2: 168,517,272 (GRCm39) F354I probably benign Het
Bag6 A G 17: 35,359,818 (GRCm39) H259R unknown Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TGGTT TGGTTCTGTGGTCACGGGTT 3: 95,795,498 (GRCm39) probably benign Het
BC028528 GTCACTGGTTCTGTG GTCACTGGTTCTGTGTTCACTGGTTCTGTG 3: 95,795,478 (GRCm39) probably benign Het
Bckdk T A 7: 127,504,145 (GRCm39) S15T unknown Het
C4b G T 17: 34,950,054 (GRCm39) Y1405* probably null Het
Camk4 G A 18: 33,072,598 (GRCm39) probably null Het
Car11 T A 7: 45,349,742 (GRCm39) W16R probably benign Het
Ccdc80 A C 16: 44,916,763 (GRCm39) E506D probably damaging Het
Chmp6 C T 11: 119,806,269 (GRCm39) Q32* probably null Het
Colq G A 14: 31,267,043 (GRCm39) P166S possibly damaging Het
Ctxn3 T C 18: 57,610,357 (GRCm39) M58T probably damaging Het
Cxcl3 A T 5: 90,934,516 (GRCm39) I93L unknown Het
Dnaaf2 T C 12: 69,244,380 (GRCm39) Y227C probably damaging Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Dnmt3a G A 12: 3,954,204 (GRCm39) G792D probably damaging Het
Dsg4 T A 18: 20,584,993 (GRCm39) probably null Het
Ecm2 C T 13: 49,683,818 (GRCm39) Q599* probably null Het
Fbxl13 T A 5: 21,728,058 (GRCm39) R550* probably null Het
Gm4302 A T 10: 100,177,445 (GRCm39) Q243L unknown Het
Gm7168 A T 17: 14,169,275 (GRCm39) Y214F probably benign Het
Gtf3c1 C T 7: 125,246,663 (GRCm39) D1549N probably damaging Het
Gtf3c5 A T 2: 28,461,153 (GRCm39) D320E probably damaging Het
Hivep1 T A 13: 42,311,126 (GRCm39) V1122D probably damaging Het
Ibtk T C 9: 85,600,987 (GRCm39) probably null Het
Irs1 T A 1: 82,264,985 (GRCm39) Q1077L probably damaging Het
Ivd A T 2: 118,707,373 (GRCm39) M296L possibly damaging Het
Katnal1 T C 5: 148,828,492 (GRCm39) D318G probably null Het
L3mbtl3 C T 10: 26,215,129 (GRCm39) V194I unknown Het
Malt1 C A 18: 65,581,282 (GRCm39) Q237K probably benign Het
Marchf11 C T 15: 26,311,187 (GRCm39) A221V possibly damaging Het
Nfe2l3 A G 6: 51,434,524 (GRCm39) I361M possibly damaging Het
Nrg1 G A 8: 32,308,682 (GRCm39) R493C probably damaging Het
Oga G A 19: 45,755,886 (GRCm39) R586* probably null Het
Or10g9b T A 9: 39,917,720 (GRCm39) H175L probably damaging Het
Or2f1 T C 6: 42,721,739 (GRCm39) I256T probably damaging Het
Or4c107 A C 2: 88,789,392 (GRCm39) Y194S probably benign Het
Or51g2 G A 7: 102,623,017 (GRCm39) P61S probably damaging Het
Or5ar1 A T 2: 85,671,307 (GRCm39) V276E probably damaging Het
Or7g16 A T 9: 18,727,229 (GRCm39) Y120* probably null Het
Orai3 C T 7: 127,372,799 (GRCm39) A100V possibly damaging Het
Oxsm T A 14: 16,241,066 (GRCm38) M328L probably benign Het
Pan2 T C 10: 128,144,309 (GRCm39) V186A probably benign Het
Pkd1l1 T A 11: 8,866,265 (GRCm39) D980V Het
Ppp1r16b T C 2: 158,603,388 (GRCm39) Y438H probably damaging Het
Ppp4c A T 7: 126,386,504 (GRCm39) H164Q probably damaging Het
Prl8a2 C A 13: 27,536,753 (GRCm39) T125K possibly damaging Het
Rasa2 T C 9: 96,448,175 (GRCm39) N494S possibly damaging Het
Rpl18a T C 8: 71,348,150 (GRCm39) D147G probably benign Het
Scg3 T C 9: 75,576,559 (GRCm39) D272G possibly damaging Het
Serpinb6c T A 13: 34,077,818 (GRCm39) D184V probably benign Het
Simc1 T G 13: 54,672,162 (GRCm39) L170R possibly damaging Het
Stk31 T A 6: 49,416,166 (GRCm39) probably null Het
Tas1r3 A G 4: 155,946,480 (GRCm39) I375T probably damaging Het
Tbc1d24 T C 17: 24,401,494 (GRCm39) D405G probably damaging Het
Tcerg1l G A 7: 137,861,557 (GRCm39) P391S probably damaging Het
Tiam1 T C 16: 89,695,083 (GRCm39) S125G probably benign Het
Trim16 C A 11: 62,724,949 (GRCm39) H246N probably damaging Het
Tti1 T A 2: 157,837,392 (GRCm39) N896I probably damaging Het
Ubash3a A G 17: 31,451,286 (GRCm39) N395S probably damaging Het
Uggt1 T C 1: 36,203,589 (GRCm39) I1014V probably benign Het
Vmn1r30 T A 6: 58,412,214 (GRCm39) Q206L possibly damaging Het
Washc5 T A 15: 59,209,053 (GRCm39) N1057I probably benign Het
Xpo4 GGTATTAGCGGAGT GGT 14: 57,840,078 (GRCm39) probably null Het
Zcchc14 A T 8: 122,331,756 (GRCm39) S536T unknown 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
R5696:Slx4 UTSW 16 3,797,831 (GRCm39) missense probably damaging 1.00
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
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'- GATGCCATTCTGTTTCAGCTCAG -3'
(R):5'- AAGTCCCACCTATACTGGCC -3'

Sequencing Primer
(F):5'- GTTTCAGCTCAGCCTGCAG -3'
(R):5'- AGACCTTAGAATACCATCAAAGAGTC -3'
Posted On 2019-10-17