Incidental Mutation 'R4678:Fig4'
ID 349779
Institutional Source Beutler Lab
Gene Symbol Fig4
Ensembl Gene ENSMUSG00000038417
Gene Name FIG4 phosphoinositide 5-phosphatase
Synonyms A530089I17Rik
MMRRC Submission 041931-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.530) question?
Stock # R4678 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 41064168-41179237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41148994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 153 (I153V)
Ref Sequence ENSEMBL: ENSMUSP00000039598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043814]
AlphaFold Q91WF7
Predicted Effect probably benign
Transcript: ENSMUST00000043814
AA Change: I153V

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000039598
Gene: ENSMUSG00000038417
AA Change: I153V

DomainStartEndE-ValueType
Pfam:Syja_N 93 424 1.7e-79 PFAM
Blast:Lactamase_B 533 610 6e-21 BLAST
low complexity region 742 771 N/A INTRINSIC
low complexity region 805 813 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit premature death, severe tremors, diluted coat color, neurodegeneration, impaired coordination, muscle weakness, small size and reduced spleen. [provided by MGI curators]
Allele List at MGI

All alleles(16) : Targeted(3) Gene trapped(12) Spontaneous(1)

Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110025L11Rik T C 16: 88,860,873 (GRCm39) probably benign Het
Abcc4 A G 14: 118,865,103 (GRCm39) S308P probably damaging Het
Agr3 G T 12: 35,997,832 (GRCm39) V115L probably damaging Het
Ahr A T 12: 35,557,463 (GRCm39) I319N probably damaging Het
Alpk1 A T 3: 127,473,507 (GRCm39) V832D probably damaging Het
Ano1 T C 7: 144,223,289 (GRCm39) T78A probably benign Het
Apob G A 12: 8,045,585 (GRCm39) G897D probably damaging Het
Arfgef1 A G 1: 10,212,891 (GRCm39) F1677L probably benign Het
Arhgap40 G T 2: 158,374,226 (GRCm39) G217W probably benign Het
Arhgef4 A G 1: 34,761,749 (GRCm39) E335G unknown Het
Calcoco2 T C 11: 95,994,374 (GRCm39) T60A probably damaging Het
Catsperg1 A T 7: 28,889,721 (GRCm39) S741T probably benign Het
Ccdc181 T G 1: 164,105,846 (GRCm39) I27S probably damaging Het
Ceacam9 A T 7: 16,459,334 (GRCm39) Y211F probably damaging Het
Cep41 T C 6: 30,671,318 (GRCm39) probably null Het
Cercam T A 2: 29,759,689 (GRCm39) L45Q probably damaging Het
Cnnm2 G A 19: 46,751,685 (GRCm39) V492M possibly damaging Het
Cntn3 A G 6: 102,180,981 (GRCm39) V738A probably damaging Het
Coq8a T C 1: 179,997,646 (GRCm39) E351G probably damaging Het
Cyp3a57 T C 5: 145,307,538 (GRCm39) probably null Het
Dbn1 T C 13: 55,623,071 (GRCm39) I471V probably benign Het
Ddx21 G T 10: 62,429,782 (GRCm39) Q321K probably benign Het
Dhx8 T C 11: 101,630,634 (GRCm39) V347A probably damaging Het
Dkc1 A G X: 74,144,598 (GRCm39) I215V probably benign Homo
Dlg2 A G 7: 92,077,788 (GRCm39) I685V possibly damaging Het
Dusp11 A C 6: 85,930,363 (GRCm39) N140K probably damaging Het
Ece2 A G 16: 20,459,468 (GRCm39) K454R probably damaging Het
Eno4 T A 19: 58,935,181 (GRCm39) V131E probably damaging Het
Enpep A G 3: 129,097,362 (GRCm39) probably null Het
Etv1 T C 12: 38,885,219 (GRCm39) Y236H probably damaging Het
F2rl2 A G 13: 95,837,140 (GRCm39) T62A probably benign Het
Fbxl21 T C 13: 56,684,862 (GRCm39) V296A probably damaging Het
Fis1 T A 5: 136,991,951 (GRCm39) N41K possibly damaging Het
Fras1 T A 5: 96,848,427 (GRCm39) M1814K probably benign Het
Frem2 T A 3: 53,451,792 (GRCm39) I2266F probably benign Het
Gm10330 A T 12: 23,829,843 (GRCm39) *113R probably null Het
Gm12185 T A 11: 48,806,367 (GRCm39) I275F probably benign Het
Gsdme A T 6: 50,206,304 (GRCm39) C180S possibly damaging Het
Herc1 A G 9: 66,323,551 (GRCm39) E1355G probably benign Het
Hnrnpm A T 17: 33,869,185 (GRCm39) I453N possibly damaging Het
Hspb9 T C 11: 100,604,896 (GRCm39) L74P probably damaging Het
Ift46 C A 9: 44,695,260 (GRCm39) Y85* probably null Het
Insyn2b T G 11: 34,353,227 (GRCm39) L423R probably damaging Het
Ints3 T C 3: 90,315,817 (GRCm39) T316A possibly damaging Het
Isg20 C T 7: 78,564,076 (GRCm39) probably benign Het
Itga11 T A 9: 62,642,639 (GRCm39) N187K probably damaging Het
Klhl9 G A 4: 88,639,161 (GRCm39) T360I probably damaging Het
Krt39 T A 11: 99,411,826 (GRCm39) I87F probably benign Het
Krtap19-4 G A 16: 88,681,734 (GRCm39) S74F unknown Het
Lgi1 G A 19: 38,289,737 (GRCm39) V268I probably damaging Het
Lrrc46 G A 11: 96,925,719 (GRCm39) P248S probably benign Het
Lrrn4 C T 2: 132,721,488 (GRCm39) V110I probably benign Het
Mamstr C A 7: 45,294,116 (GRCm39) probably benign Het
Micu3 T A 8: 40,833,718 (GRCm39) F451I probably damaging Het
Mid1 C A X: 168,768,044 (GRCm39) D130E possibly damaging Het
Mkks T C 2: 136,722,201 (GRCm39) T319A probably benign Het
Mob3c A G 4: 115,690,968 (GRCm39) probably null Het
Muc6 T C 7: 141,230,554 (GRCm39) E1192G probably benign Het
Ndc80 A G 17: 71,827,753 (GRCm39) probably null Het
Nfx1 A G 4: 41,012,070 (GRCm39) K807E probably benign Het
Nrxn1 A T 17: 90,930,850 (GRCm39) L181Q probably damaging Het
Nsun7 A G 5: 66,418,407 (GRCm39) S46G probably benign Het
Nup98 A T 7: 101,834,038 (GRCm39) L308H probably damaging Het
Or4c115 C A 2: 88,927,860 (GRCm39) W137L probably benign Het
Or52j3 T C 7: 102,836,098 (GRCm39) F97L probably damaging Het
Or6f2 T C 7: 139,756,141 (GRCm39) V36A probably benign Het
Or8k32 T C 2: 86,369,077 (GRCm39) M61V possibly damaging Het
Palb2 T C 7: 121,726,589 (GRCm39) K427R probably damaging Het
Pcdha1 C A 18: 37,063,965 (GRCm39) Q210K probably benign Het
Pcdhb2 T C 18: 37,429,260 (GRCm39) L411P probably damaging Het
Pde4dip C A 3: 97,602,321 (GRCm39) D2252Y probably damaging Het
Plekhg4 T A 8: 106,107,003 (GRCm39) Y899* probably null Het
Plxnb2 G T 15: 89,045,131 (GRCm39) T1105K probably benign Het
Psmd2 T C 16: 20,478,719 (GRCm39) V606A probably damaging Het
Ptprq A T 10: 107,521,043 (GRCm39) F710I probably benign Het
Rad51ap2 A G 12: 11,506,552 (GRCm39) E158G probably damaging Het
Rasip1 T A 7: 45,277,247 (GRCm39) H18Q possibly damaging Het
Rassf8 A G 6: 145,760,808 (GRCm39) K45E probably damaging Het
Rrn3 T A 16: 13,613,940 (GRCm39) M284K probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Rtn2 C A 7: 19,027,820 (GRCm39) N403K probably damaging Het
Rusc1 A G 3: 88,997,027 (GRCm39) W462R probably damaging Het
Sdc3 T A 4: 130,545,907 (GRCm39) probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc12a2 T A 18: 58,039,032 (GRCm39) C537* probably null Het
Slc4a2 G A 5: 24,639,238 (GRCm39) probably null Het
Spsb4 T A 9: 96,877,744 (GRCm39) D193V probably damaging Het
Strn A C 17: 78,984,780 (GRCm39) F288V probably damaging Het
Stx18 G A 5: 38,293,712 (GRCm39) probably benign Het
Tfcp2l1 T A 1: 118,596,378 (GRCm39) M371K probably benign Het
Thnsl1 A G 2: 21,216,352 (GRCm39) probably null Het
Tlr11 C T 14: 50,598,439 (GRCm39) H142Y possibly damaging Het
Tor1aip2 T A 1: 155,940,780 (GRCm39) I362K probably damaging Het
Trmt13 T C 3: 116,383,404 (GRCm39) K125E probably damaging Het
Trpm8 T C 1: 88,264,851 (GRCm39) V320A probably benign Het
Ubr3 A T 2: 69,766,263 (GRCm39) H377L probably damaging Het
Usp8 A G 2: 126,567,349 (GRCm39) R123G probably null Het
Vim T A 2: 13,579,775 (GRCm39) L178Q probably damaging Het
Vmn1r231 A C 17: 21,110,489 (GRCm39) V142G possibly damaging Het
Vmn1r83 A G 7: 12,055,697 (GRCm39) M120T possibly damaging Het
Vwce G T 19: 10,642,012 (GRCm39) V913F possibly damaging Het
Zbtb18 C A 1: 177,275,285 (GRCm39) T215K probably benign Het
Zeb2 A T 2: 44,886,353 (GRCm39) D857E probably damaging Het
Zfp106 G A 2: 120,364,221 (GRCm39) H729Y probably damaging Het
Zfp977 C A 7: 42,229,437 (GRCm39) A363S probably benign Het
Other mutations in Fig4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Fig4 APN 10 41,127,784 (GRCm39) missense probably damaging 0.99
IGL01013:Fig4 APN 10 41,143,782 (GRCm39) missense probably benign 0.00
IGL01066:Fig4 APN 10 41,161,413 (GRCm39) splice site probably benign
IGL01501:Fig4 APN 10 41,146,370 (GRCm39) missense probably benign
IGL01503:Fig4 APN 10 41,132,514 (GRCm39) missense probably benign 0.00
IGL01535:Fig4 APN 10 41,132,490 (GRCm39) missense probably benign 0.00
IGL01733:Fig4 APN 10 41,153,389 (GRCm39) missense possibly damaging 0.49
IGL01782:Fig4 APN 10 41,146,396 (GRCm39) missense probably benign 0.18
IGL01866:Fig4 APN 10 41,108,160 (GRCm39) missense possibly damaging 0.77
IGL01934:Fig4 APN 10 41,104,108 (GRCm39) missense probably benign 0.03
IGL01966:Fig4 APN 10 41,108,098 (GRCm39) splice site probably null
IGL02032:Fig4 APN 10 41,179,002 (GRCm39) missense probably benign 0.00
IGL02225:Fig4 APN 10 41,132,448 (GRCm39) missense probably benign
IGL02345:Fig4 APN 10 41,143,770 (GRCm39) missense probably null 1.00
IGL02532:Fig4 APN 10 41,161,277 (GRCm39) splice site probably benign
IGL02686:Fig4 APN 10 41,140,000 (GRCm39) missense probably damaging 0.99
IGL02965:Fig4 APN 10 41,161,661 (GRCm39) missense probably damaging 0.98
P0021:Fig4 UTSW 10 41,127,821 (GRCm39) missense probably damaging 1.00
R0017:Fig4 UTSW 10 41,149,003 (GRCm39) missense possibly damaging 0.94
R0017:Fig4 UTSW 10 41,149,003 (GRCm39) missense possibly damaging 0.94
R0117:Fig4 UTSW 10 41,106,037 (GRCm39) nonsense probably null
R0144:Fig4 UTSW 10 41,134,045 (GRCm39) missense probably damaging 0.99
R0655:Fig4 UTSW 10 41,161,673 (GRCm39) missense probably damaging 1.00
R0701:Fig4 UTSW 10 41,116,508 (GRCm39) nonsense probably null
R0751:Fig4 UTSW 10 41,148,978 (GRCm39) missense probably damaging 1.00
R1540:Fig4 UTSW 10 41,064,582 (GRCm39) missense possibly damaging 0.60
R1586:Fig4 UTSW 10 41,141,423 (GRCm39) missense probably damaging 0.99
R2916:Fig4 UTSW 10 41,134,071 (GRCm39) missense probably damaging 0.98
R3927:Fig4 UTSW 10 41,139,135 (GRCm39) missense probably benign
R4304:Fig4 UTSW 10 41,132,423 (GRCm39) missense probably benign 0.01
R4586:Fig4 UTSW 10 41,064,628 (GRCm39) missense probably damaging 1.00
R4858:Fig4 UTSW 10 41,109,586 (GRCm39) missense probably benign 0.00
R5614:Fig4 UTSW 10 41,148,981 (GRCm39) missense probably damaging 0.98
R5896:Fig4 UTSW 10 41,130,881 (GRCm39) missense possibly damaging 0.67
R6126:Fig4 UTSW 10 41,141,443 (GRCm39) missense probably damaging 0.99
R7056:Fig4 UTSW 10 41,096,928 (GRCm39) missense probably benign 0.09
R7350:Fig4 UTSW 10 41,127,752 (GRCm39) missense probably benign 0.03
R7452:Fig4 UTSW 10 41,116,633 (GRCm39) missense possibly damaging 0.88
R7481:Fig4 UTSW 10 41,106,001 (GRCm39) critical splice donor site probably null
R7610:Fig4 UTSW 10 41,129,709 (GRCm39) missense probably damaging 1.00
R7818:Fig4 UTSW 10 41,139,162 (GRCm39) missense probably damaging 0.98
R7830:Fig4 UTSW 10 41,132,462 (GRCm39) missense probably benign 0.00
R8263:Fig4 UTSW 10 41,143,711 (GRCm39) nonsense probably null
R8319:Fig4 UTSW 10 41,139,097 (GRCm39) missense probably damaging 1.00
R8409:Fig4 UTSW 10 41,141,427 (GRCm39) missense probably benign 0.01
R8435:Fig4 UTSW 10 41,161,670 (GRCm39) missense probably benign
R8474:Fig4 UTSW 10 41,108,170 (GRCm39) missense probably benign 0.30
R9086:Fig4 UTSW 10 41,161,399 (GRCm39) missense possibly damaging 0.50
R9131:Fig4 UTSW 10 41,141,407 (GRCm39) missense possibly damaging 0.95
R9248:Fig4 UTSW 10 41,153,478 (GRCm39) missense probably benign
R9401:Fig4 UTSW 10 41,143,733 (GRCm39) missense probably benign
R9564:Fig4 UTSW 10 41,161,387 (GRCm39) missense probably benign 0.20
R9627:Fig4 UTSW 10 41,108,178 (GRCm39) missense probably benign 0.01
R9649:Fig4 UTSW 10 41,143,763 (GRCm39) missense probably benign 0.00
Z1088:Fig4 UTSW 10 41,129,727 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAACCATGGCACTGTTACAC -3'
(R):5'- GCTATCTGAGCGATGATTGGC -3'

Sequencing Primer
(F):5'- GCACTGTTACACCTCTGCATTAGAAC -3'
(R):5'- GCACACTTACTAGGGTGA -3'
Posted On 2015-10-08