Mutagenetix > Incidental Mutation

Incidental Mutation 'R2916:Fig4'

254887

Institutional Source

Beutler Lab

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 #

R2916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41064168-41179237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41134071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 404 (F404S)

Ref Sequence

ENSEMBL: ENSMUSP00000039598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043814]

AlphaFold

Q91WF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000043814
AA Change: F404S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039598
Gene: ENSMUSG00000038417
AA Change: F404S

Domain	Start	End	E-Value	Type
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: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa13	T	C	15: 58,208,476 (GRCm39)		noncoding transcript	Het
Brd7	A	G	8: 89,069,408 (GRCm39)	I429T	probably damaging	Het
Btbd10	T	C	7: 112,932,031 (GRCm39)	M124V	probably benign	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Ephb2	T	C	4: 136,411,256 (GRCm39)	D468G	probably damaging	Het
Hcn3	A	G	3: 89,054,920 (GRCm39)	S776P	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Il17re	G	A	6: 113,442,989 (GRCm39)		probably null	Het
Mug2	A	G	6: 122,051,683 (GRCm39)		probably null	Het
Nudt9	C	A	5: 104,203,424 (GRCm39)	A121E	probably damaging	Het
Or2aa1	T	C	11: 59,480,265 (GRCm39)	T217A	probably benign	Het
Pdcd11	AGAGGAGGAGGAGGAGGAGGAGGAG	AGAGGAGGAGGAGGAGGAGGAG	19: 47,101,876 (GRCm39)		probably benign	Het
Pkdcc	G	C	17: 83,523,378 (GRCm39)	A162P	probably benign	Het
Rassf4	A	G	6: 116,618,701 (GRCm39)	V194A	probably damaging	Het
Rps24	T	C	14: 24,542,009 (GRCm39)	V23A	probably benign	Het
Six3	A	T	17: 85,929,061 (GRCm39)	I132F	probably benign	Het
Srsf12	C	T	4: 33,231,042 (GRCm39)	R179*	probably null	Het
Zbtb14	C	T	17: 69,695,214 (GRCm39)	P304L	probably damaging	Het

Other mutations in Fig4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GACAGACCTTTCAGGGGAAAC -3'
(R):5'- CCCTCACTCTGTGAAGATGTC -3'

Sequencing Primer
(F):5'- AAACCTGACACCTGCTGGG -3'
(R):5'- TGAACCTGGGTCCTCTGCAAAAG -3'

Posted On

2014-12-29