Incidental Mutation 'IGL01866:Fig4'
ID 178525
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fig4
Ensembl Gene ENSMUSG00000038417
Gene Name FIG4 phosphoinositide 5-phosphatase
Synonyms A530089I17Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.530) question?
Stock # IGL01866
Quality Score
Status
Chromosome 10
Chromosomal Location 41064168-41179237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41108160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 680 (P680L)
Ref Sequence ENSEMBL: ENSMUSP00000039598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043814]
AlphaFold Q91WF7
Predicted Effect possibly damaging
Transcript: ENSMUST00000043814
AA Change: P680L

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000039598
Gene: ENSMUSG00000038417
AA Change: P680L

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 T C 4: 144,255,119 (GRCm39) Y180H possibly damaging Het
Abi3bp A T 16: 56,492,336 (GRCm39) I1361L probably benign Het
Amph A T 13: 19,326,172 (GRCm39) D634V probably damaging Het
Ank1 G A 8: 23,583,871 (GRCm39) V317I possibly damaging Het
Ap4e1 G A 2: 126,888,830 (GRCm39) V460I possibly damaging Het
Arhgap19 A T 19: 41,775,016 (GRCm39) H198Q probably benign Het
Cacna1g C T 11: 94,347,937 (GRCm39) G717D probably damaging Het
Camkk2 A G 5: 122,902,013 (GRCm39) S99P probably damaging Het
Catsperb T A 12: 101,475,570 (GRCm39) Y371* probably null Het
Cbl A T 9: 44,065,122 (GRCm39) C735* probably null Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Col1a2 G T 6: 4,524,132 (GRCm39) D531Y probably damaging Het
Dscam T A 16: 96,486,550 (GRCm39) T1042S probably benign Het
Dtnb A G 12: 3,782,626 (GRCm39) Y363C probably benign Het
Ear10 A G 14: 44,160,785 (GRCm39) L14P probably damaging Het
Egf A G 3: 129,529,529 (GRCm39) S294P probably benign Het
Erbb3 T C 10: 128,405,237 (GRCm39) *1340W probably null Het
Fam217b A G 2: 178,062,224 (GRCm39) T63A probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm6882 T A 7: 21,161,512 (GRCm39) I119F probably damaging Het
Hdac10 C A 15: 89,008,736 (GRCm39) G442W probably damaging Het
Mc2r C T 18: 68,540,494 (GRCm39) M266I possibly damaging Het
Mep1b A G 18: 21,228,050 (GRCm39) Q551R probably benign Het
Mtrf1 T A 14: 79,638,948 (GRCm39) C27S probably benign Het
Myo5c T A 9: 75,176,864 (GRCm39) M603K probably benign Het
Nuf2 A G 1: 169,326,407 (GRCm39) L448P possibly damaging Het
Or10a49 C T 7: 108,468,006 (GRCm39) M118I possibly damaging Het
Or1e30 A T 11: 73,678,654 (GRCm39) I297L probably benign Het
Or2b7 T C 13: 21,739,343 (GRCm39) N283S probably benign Het
Or8g33 A T 9: 39,338,025 (GRCm39) M114K probably damaging Het
Ppp2r5c T C 12: 110,534,261 (GRCm39) Y375H probably benign Het
Pstpip2 A G 18: 77,965,325 (GRCm39) I317M probably benign Het
Pxdn A G 12: 30,034,570 (GRCm39) T208A probably benign Het
Rab3gap1 C T 1: 127,818,817 (GRCm39) H116Y probably damaging Het
Rarb T A 14: 16,443,751 (GRCm38) D179V probably benign Het
Rasal1 G A 5: 120,813,488 (GRCm39) A621T probably damaging Het
Rnf6 G A 5: 146,147,717 (GRCm39) R434C probably damaging Het
Scn10a C A 9: 119,464,568 (GRCm39) E1011* probably null Het
Sec24d C T 3: 123,087,244 (GRCm39) Q137* probably null Het
Slc35g1 C A 19: 38,391,642 (GRCm39) A308E probably damaging Het
Smtnl1 C A 2: 84,649,089 (GRCm39) C55F possibly damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stt3a A T 9: 36,645,662 (GRCm39) D676E probably benign Het
Sytl2 T C 7: 90,031,047 (GRCm39) probably benign Het
Trabd2b A G 4: 114,266,117 (GRCm39) T44A probably damaging Het
Trim12a T C 7: 103,953,360 (GRCm39) probably benign Het
Tti1 A T 2: 157,849,618 (GRCm39) D540E probably benign Het
Tubgcp6 A G 15: 88,987,691 (GRCm39) V1094A probably benign Het
Vmn1r34 A G 6: 66,614,373 (GRCm39) Y122H probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp579 T A 7: 4,997,257 (GRCm39) Q218L 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
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
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
Posted On 2014-05-07