Incidental Mutation 'R0655:Fig4'
ID 62500
Institutional Source Beutler Lab
Gene Symbol Fig4
Ensembl Gene ENSMUSG00000038417
Gene Name FIG4 phosphoinositide 5-phosphatase
Synonyms A530089I17Rik
MMRRC Submission 038840-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.530) question?
Stock # R0655 (G1)
Quality Score 198
Status Not validated
Chromosome 10
Chromosomal Location 41064168-41179237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41161673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 30 (N30S)
Ref Sequence ENSEMBL: ENSMUSP00000039598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043814]
AlphaFold Q91WF7
Predicted Effect probably damaging
Transcript: ENSMUST00000043814
AA Change: N30S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039598
Gene: ENSMUSG00000038417
AA Change: N30S

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: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.8%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G C 17: 36,268,737 (GRCm39) I757M probably benign Het
Abtb3 A G 10: 85,481,390 (GRCm39) T931A probably damaging Het
Atg16l1 T A 1: 87,694,551 (GRCm39) I76N probably damaging Het
Baz1b T A 5: 135,271,284 (GRCm39) I1289N probably benign Het
Bcl2l15 T A 3: 103,740,285 (GRCm39) probably null Het
Cbl G T 9: 44,070,049 (GRCm39) T566K probably damaging Het
Cd96 T C 16: 45,919,482 (GRCm39) K180E probably benign Het
Cpxm2 G A 7: 131,656,549 (GRCm39) T571I possibly damaging Het
Cyp2a12 A T 7: 26,736,046 (GRCm39) Y485F probably benign Het
Cyp4f17 T A 17: 32,743,871 (GRCm39) Y350N possibly damaging Het
Dstn T A 2: 143,780,342 (GRCm39) I14N probably damaging Het
Eea1 A G 10: 95,831,460 (GRCm39) S184G probably benign Het
Eif1a G T 18: 46,741,130 (GRCm39) G122C probably damaging Het
Esf1 T A 2: 139,990,799 (GRCm39) T562S probably benign Het
Fem1c G A 18: 46,638,227 (GRCm39) R592C probably benign Het
Gria2 C A 3: 80,639,377 (GRCm39) E212* probably null Het
Gsdmc2 C T 15: 63,699,622 (GRCm39) A269T probably benign Het
Herc4 T C 10: 63,109,350 (GRCm39) V195A probably benign Het
Hivep1 T C 13: 42,321,061 (GRCm39) S2123P probably damaging Het
Hspa4 T C 11: 53,160,519 (GRCm39) E519G probably benign Het
Htr2b A G 1: 86,038,565 (GRCm39) S14P probably benign Het
Ifit1 T C 19: 34,625,047 (GRCm39) V61A probably damaging Het
Ifitm1 C A 7: 140,549,449 (GRCm39) F77L probably benign Het
Matn2 T C 15: 34,345,346 (GRCm39) S118P probably benign Het
Mtmr3 C A 11: 4,438,610 (GRCm39) D615Y probably damaging Het
Mtss1 C A 15: 58,953,351 (GRCm39) C9F probably damaging Het
Muc5b A T 7: 141,417,679 (GRCm39) I3542F probably benign Het
Nwd2 T C 5: 63,948,928 (GRCm39) S167P possibly damaging Het
Or1e34 T C 11: 73,778,631 (GRCm39) D189G possibly damaging Het
Or2ag1b A T 7: 106,288,632 (GRCm39) F102Y probably damaging Het
Or8b54 C T 9: 38,686,850 (GRCm39) Q100* probably null Het
Oscp1 T C 4: 125,952,526 (GRCm39) L18P probably damaging Het
Pax5 A G 4: 44,537,462 (GRCm39) S297P probably damaging Het
Phldb3 A T 7: 24,323,797 (GRCm39) D476V probably benign Het
Phlpp2 A T 8: 110,622,219 (GRCm39) I154L probably benign Het
Prx T A 7: 27,216,846 (GRCm39) V449E probably damaging Het
Psd3 A G 8: 68,416,341 (GRCm39) S519P probably benign Het
Rnf138 T G 18: 21,143,840 (GRCm39) V128G probably benign Het
Safb T A 17: 56,904,803 (GRCm39) S209T probably benign Het
Sbno1 C A 5: 124,514,212 (GRCm39) V1327L possibly damaging Het
Scarb1 A G 5: 125,377,504 (GRCm39) V176A probably damaging Het
Scd4 A G 19: 44,327,407 (GRCm39) H161R possibly damaging Het
Selenoo T A 15: 88,979,858 (GRCm39) H335Q probably damaging Het
Slfn8 A G 11: 82,894,647 (GRCm39) F664S probably benign Het
Spef2 T C 15: 9,626,217 (GRCm39) I1116M possibly damaging Het
Taf2 G A 15: 54,901,690 (GRCm39) R835W probably damaging Het
Tdrd9 A G 12: 112,006,899 (GRCm39) E921G probably damaging Het
Tectb G A 19: 55,178,302 (GRCm39) G234S possibly damaging Het
Tmc1 C T 19: 20,776,540 (GRCm39) M606I probably damaging Het
Tmed10 T A 12: 85,390,291 (GRCm39) I88F probably damaging Het
Tnfrsf11a G A 1: 105,735,880 (GRCm39) V31I unknown Het
Trp53inp2 G T 2: 155,228,088 (GRCm39) G98* probably null Het
Tssc4 A G 7: 142,623,782 (GRCm39) D30G probably damaging Het
Uaca T C 9: 60,779,311 (GRCm39) Y1233H probably benign Het
Unc13c G A 9: 73,838,235 (GRCm39) T872I probably damaging Het
Unc80 A G 1: 66,542,940 (GRCm39) H398R probably damaging Het
Vmn1r64 G A 7: 5,887,207 (GRCm39) T112I probably benign Het
Vmn1r85 A G 7: 12,818,650 (GRCm39) Y165H probably damaging Het
Vmn2r72 A T 7: 85,387,319 (GRCm39) C748* probably null Het
Wdr17 A G 8: 55,102,233 (GRCm39) W929R probably damaging Het
Yeats2 A T 16: 20,012,574 (GRCm39) K591* probably null Het
Zbtb9 T A 17: 27,193,074 (GRCm39) S160T probably damaging Het
Znfx1 T A 2: 166,898,827 (GRCm39) R32S probably damaging Het
Zng1 T C 19: 24,930,684 (GRCm39) M122V possibly damaging 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
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
R4678:Fig4 UTSW 10 41,148,994 (GRCm39) missense probably benign 0.27
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'- TGTGGTTTCACCTCCTCAGAACAAC -3'
(R):5'- CGCTTCCAGGCAAAGCTTAAACATC -3'

Sequencing Primer
(F):5'- ACAGACACTGGAGCCCTG -3'
(R):5'- CGGAATGATTCTTATCACGAAGCTC -3'
Posted On 2013-07-30