Incidental Mutation 'R7790:Slx4'
ID 599843
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 045846-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7790 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 3796969-3821634 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3804846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 656 (E656G)
Ref Sequence ENSEMBL: ENSMUSP00000038871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040790]
AlphaFold Q6P1D7
Predicted Effect probably benign
Transcript: ENSMUST00000040790
AA Change: E656G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000038871
Gene: ENSMUSG00000039738
AA Change: E656G

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (81/81)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,451,201 (GRCm39) I136F possibly damaging Het
Abca13 A T 11: 9,247,915 (GRCm39) K2554M probably damaging Het
Ankrd12 C T 17: 66,291,225 (GRCm39) D1403N possibly damaging Het
Ankrd17 A G 5: 90,408,011 (GRCm39) V1402A possibly damaging Het
Ankrd36 A T 11: 5,585,176 (GRCm39) N329I possibly damaging Het
Atr A T 9: 95,756,233 (GRCm39) D815V probably damaging Het
C9orf72 T C 4: 35,192,997 (GRCm39) D444G unknown Het
Ceacam1 T C 7: 25,173,375 (GRCm39) Y271C probably damaging Het
Cenpo T C 12: 4,264,597 (GRCm39) H265R probably benign Het
Chd8 G A 14: 52,463,539 (GRCm39) R702W probably damaging Het
Ckap5 A G 2: 91,389,455 (GRCm39) N309S probably benign Het
Cxxc1 C T 18: 74,350,855 (GRCm39) R83C probably damaging Het
Dcaf6 T C 1: 165,227,284 (GRCm39) D281G probably damaging Het
Dennd4c A G 4: 86,717,754 (GRCm39) T584A probably damaging Het
Drgx T A 14: 32,350,845 (GRCm39) L227Q probably damaging Het
Dync2h1 G T 9: 7,114,914 (GRCm39) H2415N probably damaging Het
Dzip1l A G 9: 99,543,015 (GRCm39) E490G possibly damaging Het
Fam124a T C 14: 62,843,526 (GRCm39) S345P probably benign Het
Fam83b G A 9: 76,399,330 (GRCm39) T591I probably benign Het
Frem1 T C 4: 82,907,401 (GRCm39) S838G probably benign Het
Fsip2 G T 2: 82,818,723 (GRCm39) D4819Y probably benign Het
Gm43302 T G 5: 105,425,691 (GRCm39) K246T probably benign Het
Gml T C 15: 74,685,462 (GRCm39) probably benign Het
Gpc1 A T 1: 92,781,171 (GRCm39) H90L probably benign Het
Grik3 T C 4: 125,579,812 (GRCm39) L519P probably damaging Het
Grwd1 A G 7: 45,475,438 (GRCm39) V368A probably damaging Het
Gstm3 G A 3: 107,876,555 (GRCm39) probably benign Het
Gtpbp6 A G 5: 110,252,252 (GRCm39) S427P probably damaging Het
Heatr5b C T 17: 79,126,252 (GRCm39) G560E probably damaging Het
Heatr9 A G 11: 83,409,019 (GRCm39) V176A probably damaging Het
Hsf2bp A G 17: 32,253,453 (GRCm39) V5A probably benign Het
Ints3 G T 3: 90,307,720 (GRCm39) Q660K probably benign Het
Itpr2 A T 6: 146,126,274 (GRCm39) L2048Q probably damaging Het
Kcnq1 G A 7: 142,660,342 (GRCm39) probably null Het
Lsm12 A T 11: 102,055,995 (GRCm39) probably null Het
Mcoln3 A G 3: 145,845,247 (GRCm39) Y481C probably damaging Het
Meis3 A G 7: 15,916,322 (GRCm39) N266D probably benign Het
Mgat5 G A 1: 127,339,941 (GRCm39) E441K probably benign Het
Mroh6 C T 15: 75,756,089 (GRCm39) R689H probably benign Het
Mtg1 T C 7: 139,729,662 (GRCm39) Y251H probably damaging Het
Mtus2 A T 5: 148,014,998 (GRCm39) Q597L probably benign Het
Myt1 A G 2: 181,439,390 (GRCm39) E346G probably benign Het
Nat8f4 A G 6: 85,877,873 (GRCm39) S217P probably benign Het
Ngf G A 3: 102,417,140 (GRCm39) G17R unknown Het
Or7e171-ps1 A T 9: 19,852,980 (GRCm39) M252K unknown Het
Pam T C 1: 97,749,572 (GRCm39) Y968C probably damaging Het
Pcdhga7 T A 18: 37,847,996 (GRCm39) M1K probably null Het
Pde8b G T 13: 95,170,679 (GRCm39) D554E probably benign Het
Pdzd7 G A 19: 45,033,962 (GRCm39) R41* probably null Het
Pkhd1l1 C T 15: 44,441,977 (GRCm39) P3639S probably damaging Het
Plce1 A T 19: 38,769,140 (GRCm39) E2280V probably damaging Het
Ryr1 T C 7: 28,804,257 (GRCm39) I538V probably benign Het
Scaf11 A G 15: 96,316,942 (GRCm39) L874P possibly damaging Het
Scpep1 G T 11: 88,824,347 (GRCm39) D307E possibly damaging Het
Septin4 A G 11: 87,480,065 (GRCm39) E327G probably damaging Het
Skint2 T G 4: 112,473,751 (GRCm39) V11G possibly damaging Het
Slc26a4 T C 12: 31,594,482 (GRCm39) N289D probably damaging Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,777 (GRCm39) probably benign Het
Socs5 T C 17: 87,441,791 (GRCm39) S244P probably benign Het
Spata31h1 C T 10: 82,123,329 (GRCm39) C3227Y probably benign Het
Speer1e C A 5: 11,234,185 (GRCm39) H30Q probably benign Het
Stt3b A C 9: 115,105,887 (GRCm39) L196R probably damaging Het
Syne2 T A 12: 75,975,877 (GRCm39) probably null Het
Tab2 T A 10: 7,796,188 (GRCm39) N24I probably damaging Het
Taf4b T C 18: 14,946,331 (GRCm39) S385P probably damaging Het
Tg T C 15: 66,721,453 (GRCm39) Y2720H probably damaging Het
Tjap1 C T 17: 46,569,616 (GRCm39) G448E probably benign Het
Tll1 A T 8: 64,478,271 (GRCm39) C827* probably null Het
Tlr11 T A 14: 50,599,382 (GRCm39) I456K probably benign Het
Tmem209 T C 6: 30,497,854 (GRCm39) D305G probably damaging Het
Tmem82 A T 4: 141,345,035 (GRCm39) probably null Het
Tnfrsf14 A G 4: 155,007,750 (GRCm39) V207A probably benign Het
Tnks A T 8: 35,328,694 (GRCm39) N625K probably benign Het
Tomm20 G A 8: 127,666,700 (GRCm39) P58S possibly damaging Het
Ttc9b A G 7: 27,353,761 (GRCm39) D137G probably benign Het
Ulk4 C T 9: 121,092,734 (GRCm39) E168K possibly damaging Het
Usp9y T A Y: 1,444,573 (GRCm39) D122V probably damaging Het
Vps41 C A 13: 19,026,438 (GRCm39) T512K possibly damaging Het
Wdr49 T A 3: 75,182,335 (GRCm39) N698I probably benign Het
Zfp568 G A 7: 29,722,150 (GRCm39) C365Y probably damaging Het
Zfp663 A T 2: 165,194,453 (GRCm39) C589S probably damaging Het
Zfp971 A G 2: 177,675,292 (GRCm39) K297R probably damaging Het
Zkscan16 G T 4: 58,951,843 (GRCm39) E173* probably null 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
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
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'- CTGTTACTCTGGACACCTGC -3'
(R):5'- TGTAAGCAGTGATGACCCATG -3'

Sequencing Primer
(F):5'- TGGACACCTGCCAGGGAAG -3'
(R):5'- TAAGCAGTGATGACCCATGTCTCC -3'
Posted On 2019-11-26