Mutagenetix > Incidental Mutation

Incidental Mutation 'R9649:Fig4'

726969

Institutional Source

Beutler Lab

Gene Symbol

Fig4

Ensembl Gene

ENSMUSG00000038417

Gene Name

FIG4 phosphoinositide 5-phosphatase

Synonyms

A530089I17Rik

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_133999.1; MGI:2143585

Essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

R9649 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41188172-41303260 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41267767 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 232 (G232D)

Ref Sequence

ENSEMBL: ENSMUSP00000039598 (fasta)

Gene Model

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

AlphaFold

Q91WF7

Predicted Effect

probably benign
Transcript: ENSMUST00000043814
AA Change: G232D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039598
Gene: ENSMUSG00000038417
AA Change: G232D

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

Strain: 3716838
Lethality: D30-D60
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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	A	T	2: 173,719,913	H5L	unknown	Het
Aatk	A	G	11: 120,010,907	S888P	probably damaging	Het
Ahnak	A	T	19: 9,008,422	K2357*	probably null	Het
Arl9	T	A	5: 77,007,292	L90Q	probably damaging	Het
Atxn2	T	C	5: 121,810,992	V1144A	probably damaging	Het
Batf3	C	T	1: 191,098,426		probably benign	Het
Brpf3	G	A	17: 28,818,623	E822K	probably benign	Het
Cabin1	T	A	10: 75,739,405	Q602L	probably damaging	Het
Cadps	T	C	14: 12,597,418	E424G	probably damaging	Het
Camta1	A	G	4: 151,131,547	L972P	possibly damaging	Het
Ccdc159	A	G	9: 21,929,376	N80D	possibly damaging	Het
Cdh1	A	C	8: 106,661,972	E553D	possibly damaging	Het
Cdk14	T	A	5: 5,373,477	E35V	probably benign	Het
Cfap70	A	G	14: 20,400,478	L995P	probably damaging	Het
Col18a1	T	A	10: 77,080,839	E334V	unknown	Het
Colec12	T	A	18: 9,877,000	I741K	unknown	Het
Crot	A	G	5: 8,974,170	V342A	probably benign	Het
Ctnnal1	A	G	4: 56,865,036	S27P	possibly damaging	Het
Cyp2j9	A	G	4: 96,571,956	S437P	probably damaging	Het
Dennd4c	A	T	4: 86,824,923	T1001S	probably benign	Het
Dffa	G	A	4: 149,117,819	V227I	probably benign	Het
Dnaaf5	T	A	5: 139,174,154	H602Q	probably benign	Het
Efcab7	G	T	4: 99,904,705	K397N	probably damaging	Het
Egfl6	C	T	X: 166,536,239	V379I	probably benign	Het
Fadd	G	A	7: 144,580,647	T167I	probably benign	Het
Fam184b	T	C	5: 45,639,142	D33G	probably damaging	Het
Fam214a	A	G	9: 75,017,067	D864G	possibly damaging	Het
Fam83h	G	A	15: 76,006,127	R141W	probably damaging	Het
Fam84a	T	C	12: 14,150,189	N179S	probably benign	Het
Fanci	G	A	7: 79,427,206	R564Q	probably damaging	Het
Fat3	A	T	9: 15,996,758	D2649E	possibly damaging	Het
Fcrl1	A	G	3: 87,384,611	T46A	possibly damaging	Het
Frem3	A	T	8: 80,614,516	H1146L	probably damaging	Het
Fyttd1	T	A	16: 32,895,102	F133L	probably benign	Het
Gata2	A	G	6: 88,202,523	N326D	probably damaging	Het
Gm10093	A	T	17: 78,491,646	Y22F	probably benign	Het
Gm13084	A	G	4: 143,816,039	C4R	probably damaging	Het
Gm21964	T	C	8: 110,110,948	F375L	probably damaging	Het
Gm7298	A	T	6: 121,787,532	T1457S	probably damaging	Het
Gm8773	C	T	5: 5,575,549	Q82*	probably null	Het
Heatr5b	C	T	17: 78,834,095		probably null	Het
Hfm1	T	A	5: 106,918,463	D33V	possibly damaging	Het
Hmcn2	G	A	2: 31,402,438	A2447T	possibly damaging	Het
Hs3st3b1	A	G	11: 63,921,505	F128S	probably benign	Het
Hs3st6	G	T	17: 24,753,252	R56L	possibly damaging	Het
Hsd17b3	C	T	13: 64,064,357	M168I	probably damaging	Het
Ighv1-34	G	T	12: 114,851,265	D92E	possibly damaging	Het
Itgb4	A	T	11: 115,994,345	I1018F	possibly damaging	Het
Itih3	T	C	14: 30,915,648	D518G	possibly damaging	Het
Kcnma1	C	T	14: 23,451,598		probably null	Het
Klhl11	A	T	11: 100,472,680	S17T	probably benign	Het
Lilra6	T	C	7: 3,914,522	E158G	possibly damaging	Het
Loxl1	A	G	9: 58,312,754	W45R	probably damaging	Het
Lrfn1	G	T	7: 28,466,830	V550F	probably damaging	Het
Lrp1	T	C	10: 127,573,499	K1584E	probably benign	Het
Lrp4	C	G	2: 91,508,569	P1782A	possibly damaging	Het
Map3k1	A	G	13: 111,748,944	S1480P	probably damaging	Het
Mark4	G	T	7: 19,426,090	N748K	probably benign	Het
Mrpl38	G	A	11: 116,135,074	T142M	probably damaging	Het
Mrpl41	T	C	2: 24,974,469	T64A	probably benign	Het
Mrps2	G	A	2: 28,469,752	R207K	possibly damaging	Het
Myo5a	A	T	9: 75,192,444	E96D		Het
Nbas	A	T	12: 13,583,416	E2274V	probably damaging	Het
Olfr1022	T	C	2: 85,868,934	L114P	possibly damaging	Het
Olfr1022	T	A	2: 85,869,475	N294K	probably damaging	Het
Olfr1274-ps	T	C	2: 90,400,994	F111S	probably damaging	Het
Olfr570	T	C	7: 102,900,445	I26T	probably benign	Het
Olfr616	T	C	7: 103,564,643	D212G	probably damaging	Het
Olfr781	T	A	10: 129,333,499	I206N	possibly damaging	Het
Pcdhga12	T	A	18: 37,767,235	D373E	probably damaging	Het
Pgd	A	C	4: 149,151,139	F395V	probably damaging	Het
Pi16	A	G	17: 29,319,389	M59V	possibly damaging	Het
Pik3r5	A	T	11: 68,490,894	T255S	probably benign	Het
Plch2	A	T	4: 154,984,059	V1370E	probably benign	Het
Plec	A	G	15: 76,182,953	I1309T	unknown	Het
Ppp2r3d	A	T	9: 124,440,831	S22R		Het
Ptk2b	C	A	14: 66,175,705	E342*	probably null	Het
Ptpn23	T	C	9: 110,386,158		probably null	Het
Rfx8	A	C	1: 39,683,690	S256A	probably damaging	Het
Rnf115	C	T	3: 96,758,021	T69I	probably damaging	Het
Rnf213	A	G	11: 119,479,631	Y4753C		Het
S100a10	A	C	3: 93,564,283	D58A	possibly damaging	Het
Serpina12	T	C	12: 104,038,058	K105R	probably benign	Het
Slc20a2	G	A	8: 22,538,884	G124S	probably damaging	Het
Stab2	ACC	AC	10: 86,856,697		probably null	Het
Stard9	C	A	2: 120,696,154	T964N	probably benign	Het
Stxbp5	T	A	10: 9,899,194	I72F	probably damaging	Het
Sumf2	T	A	5: 129,862,641	M282K	possibly damaging	Het
Tmem135	G	C	7: 89,147,978	L357V	probably benign	Het
Tmem185b	G	T	1: 119,526,883	V125L	probably benign	Het
Tmtc1	A	G	6: 148,243,216	M887T	probably damaging	Het
Tnfaip8	C	T	18: 50,090,445	Q83*	probably null	Het
Tnks	A	G	8: 34,838,935	V1162A	probably damaging	Het
Tomm70a	T	A	16: 57,140,709	Y342N	possibly damaging	Het
Tpo	T	A	12: 30,075,876	D828V	probably damaging	Het
Ugt8a	A	T	3: 125,914,689	N257K	probably damaging	Het
Uhrf1bp1l	C	A	10: 89,790,731	T429K	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 116,068,172		probably benign	Het
Vim	T	A	2: 13,574,892	M154K	probably damaging	Het
Virma	G	T	4: 11,486,045	M1I	probably null	Het
Zfp715	A	T	7: 43,301,229	M100K	probably benign	Het
Zfp748	A	T	13: 67,542,528	C204*	probably null	Het
Zmynd8	A	T	2: 165,838,852	D236E	probably damaging	Het

Other mutations in Fig4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Fig4	APN	10	41251788	missense	probably damaging	0.99
IGL01013:Fig4	APN	10	41267786	missense	probably benign	0.00
IGL01066:Fig4	APN	10	41285417	splice site	probably benign
IGL01501:Fig4	APN	10	41270374	missense	probably benign
IGL01503:Fig4	APN	10	41256518	missense	probably benign	0.00
IGL01535:Fig4	APN	10	41256494	missense	probably benign	0.00
IGL01733:Fig4	APN	10	41277393	missense	possibly damaging	0.49
IGL01782:Fig4	APN	10	41270400	missense	probably benign	0.18
IGL01866:Fig4	APN	10	41232164	missense	possibly damaging	0.77
IGL01934:Fig4	APN	10	41228112	missense	probably benign	0.03
IGL01966:Fig4	APN	10	41232102	splice site	probably null
IGL02032:Fig4	APN	10	41303006	missense	probably benign	0.00
IGL02225:Fig4	APN	10	41256452	missense	probably benign
IGL02345:Fig4	APN	10	41267774	missense	probably null	1.00
IGL02532:Fig4	APN	10	41285281	splice site	probably benign
IGL02686:Fig4	APN	10	41264004	missense	probably damaging	0.99
IGL02965:Fig4	APN	10	41285665	missense	probably damaging	0.98
P0021:Fig4	UTSW	10	41251825	missense	probably damaging	1.00
R0017:Fig4	UTSW	10	41273007	missense	possibly damaging	0.94
R0017:Fig4	UTSW	10	41273007	missense	possibly damaging	0.94
R0117:Fig4	UTSW	10	41230041	nonsense	probably null
R0144:Fig4	UTSW	10	41258049	missense	probably damaging	0.99
R0655:Fig4	UTSW	10	41285677	missense	probably damaging	1.00
R0701:Fig4	UTSW	10	41240512	nonsense	probably null
R0751:Fig4	UTSW	10	41272982	missense	probably damaging	1.00
R1540:Fig4	UTSW	10	41188586	missense	possibly damaging	0.60
R1586:Fig4	UTSW	10	41265427	missense	probably damaging	0.99
R2916:Fig4	UTSW	10	41258075	missense	probably damaging	0.98
R3927:Fig4	UTSW	10	41263139	missense	probably benign
R4304:Fig4	UTSW	10	41256427	missense	probably benign	0.01
R4586:Fig4	UTSW	10	41188632	missense	probably damaging	1.00
R4678:Fig4	UTSW	10	41272998	missense	probably benign	0.27
R4858:Fig4	UTSW	10	41233590	missense	probably benign	0.00
R5614:Fig4	UTSW	10	41272985	missense	probably damaging	0.98
R5896:Fig4	UTSW	10	41254885	missense	possibly damaging	0.67
R6126:Fig4	UTSW	10	41265447	missense	probably damaging	0.99
R7056:Fig4	UTSW	10	41220932	missense	probably benign	0.09
R7350:Fig4	UTSW	10	41251756	missense	probably benign	0.03
R7452:Fig4	UTSW	10	41240637	missense	possibly damaging	0.88
R7481:Fig4	UTSW	10	41230005	critical splice donor site	probably null
R7610:Fig4	UTSW	10	41253713	missense	probably damaging	1.00
R7818:Fig4	UTSW	10	41263166	missense	probably damaging	0.98
R7830:Fig4	UTSW	10	41256466	missense	probably benign	0.00
R8263:Fig4	UTSW	10	41267715	nonsense	probably null
R8319:Fig4	UTSW	10	41263101	missense	probably damaging	1.00
R8409:Fig4	UTSW	10	41265431	missense	probably benign	0.01
R8435:Fig4	UTSW	10	41285674	missense	probably benign
R8474:Fig4	UTSW	10	41232174	missense	probably benign	0.30
R9086:Fig4	UTSW	10	41285403	missense	possibly damaging	0.50
R9131:Fig4	UTSW	10	41265411	missense	possibly damaging	0.95
R9248:Fig4	UTSW	10	41277482	missense	probably benign
R9401:Fig4	UTSW	10	41267737	missense	probably benign
R9564:Fig4	UTSW	10	41285391	missense	probably benign	0.20
R9627:Fig4	UTSW	10	41232182	missense	probably benign	0.01
Z1088:Fig4	UTSW	10	41253731	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCATGTAGCAGGAAAATGGCG -3'
(R):5'- TGACTTTGAAGGAAACAGCACAC -3'

Sequencing Primer
(F):5'- ATAAACCCATTGCTCCCAGTGTG -3'
(R):5'- GCCATAGGGAACAGCTACCG -3'

Posted On

2022-10-06