Incidental Mutation 'IGL01013:Fig4'
ID 53803
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: 0.599) question?
Stock # IGL01013
Quality Score
Status
Chromosome 10
Chromosomal Location 41064168-41179237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41143782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 226 (M226V)
Ref Sequence ENSEMBL: ENSMUSP00000039598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043814]
AlphaFold Q91WF7
Predicted Effect probably benign
Transcript: ENSMUST00000043814
AA Change: M226V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000039598
Gene: ENSMUSG00000038417
AA Change: M226V

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 77,034,053 (GRCm39) E499D possibly damaging Het
Abca1 A T 4: 53,038,185 (GRCm39) L2059* probably null Het
Ankar T A 1: 72,690,148 (GRCm39) I1228F possibly damaging Het
Appl1 A T 14: 26,671,433 (GRCm39) Y340N possibly damaging Het
Atp8b4 C A 2: 126,165,007 (GRCm39) R1103L probably benign Het
B4galt6 A G 18: 20,822,070 (GRCm39) V308A probably damaging Het
Ccdc162 G A 10: 41,457,335 (GRCm39) P1534L probably benign Het
Ccdc78 A G 17: 26,008,028 (GRCm39) E313G possibly damaging Het
Cep57l1 G A 10: 41,616,865 (GRCm39) R141* probably null Het
Cpsf1 G A 15: 76,483,497 (GRCm39) Q883* probably null Het
Crot A G 5: 9,043,575 (GRCm39) Y16H probably benign Het
Cyld T G 8: 89,468,990 (GRCm39) L587R probably damaging Het
Fam114a1 G A 5: 65,188,738 (GRCm39) probably null Het
Fam89b G T 19: 5,779,397 (GRCm39) D53E probably benign Het
Gm10722 A T 9: 3,002,230 (GRCm39) Y184F probably damaging Het
Hp C A 8: 110,305,653 (GRCm39) probably benign Het
Igsf9b G T 9: 27,245,600 (GRCm39) R1189L probably damaging Het
Ilf3 A G 9: 21,310,987 (GRCm39) N620D possibly damaging Het
Jakmip3 A C 7: 138,619,302 (GRCm39) E228A possibly damaging Het
Kpna3 A T 14: 61,607,966 (GRCm39) I413K probably damaging Het
Letm1 A T 5: 33,919,934 (GRCm39) C202S possibly damaging Het
Lmod2 C A 6: 24,604,134 (GRCm39) Q370K probably damaging Het
Map4k5 T C 12: 69,874,300 (GRCm39) probably benign Het
Mcidas T A 13: 113,134,119 (GRCm39) probably benign Het
Mme A G 3: 63,235,281 (GRCm39) probably null Het
Mrc1 T C 2: 14,333,236 (GRCm39) W1306R probably damaging Het
Mthfd1l C A 10: 3,980,716 (GRCm39) Q473K probably damaging Het
Muc6 A T 7: 141,234,333 (GRCm39) C719* probably null Het
Nsun7 T C 5: 66,440,944 (GRCm39) I355T possibly damaging Het
Padi6 A G 4: 140,456,314 (GRCm39) L560P probably damaging Het
Parl C A 16: 20,101,540 (GRCm39) A285S possibly damaging Het
Pclo A T 5: 14,843,848 (GRCm39) M4795L unknown Het
Polr2f A G 15: 79,030,329 (GRCm39) Y56C probably damaging Het
Rasgrp2 A T 19: 6,454,413 (GRCm39) H152L probably damaging Het
Rpl10l T C 12: 66,331,001 (GRCm39) D44G probably benign Het
Slc25a16 A G 10: 62,780,212 (GRCm39) probably null Het
Snrnp200 G A 2: 127,074,392 (GRCm39) E1411K probably damaging Het
Tanc2 G A 11: 105,515,891 (GRCm39) R3Q probably damaging Het
Tbc1d32 G T 10: 56,078,055 (GRCm39) probably null Het
Tcf7l2 T C 19: 55,908,059 (GRCm39) probably benign Het
Tnrc6c G T 11: 117,612,855 (GRCm39) V498L probably benign Het
Tymp G A 15: 89,260,513 (GRCm39) H102Y probably damaging Het
Wdr76 T C 2: 121,365,978 (GRCm39) S492P probably benign Het
Zc3h12d T C 10: 7,715,720 (GRCm39) I41T probably damaging Het
Other mutations in Fig4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Fig4 APN 10 41,127,784 (GRCm39) missense probably damaging 0.99
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
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 2013-06-28