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

Essential gene?

Possibly essential (E-score: 0.599) question?

Stock #

R9649 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41064168-41179237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41143763 bp (GRCm39)

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

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: 173,561,706 (GRCm39)	H5L	unknown	Het
Aatk	A	G	11: 119,901,733 (GRCm39)	S888P	probably damaging	Het
Ahnak	A	T	19: 8,985,786 (GRCm39)	K2357*	probably null	Het
Arl9	T	A	5: 77,155,139 (GRCm39)	L90Q	probably damaging	Het
Atosa	A	G	9: 74,924,349 (GRCm39)	D864G	possibly damaging	Het
Atxn2	T	C	5: 121,949,055 (GRCm39)	V1144A	probably damaging	Het
Batf3	C	T	1: 190,830,623 (GRCm39)		probably benign	Het
Bltp3b	C	A	10: 89,626,593 (GRCm39)	T429K	probably benign	Het
Brpf3	G	A	17: 29,037,597 (GRCm39)	E822K	probably benign	Het
Cabin1	T	A	10: 75,575,239 (GRCm39)	Q602L	probably damaging	Het
Cadps	T	C	14: 12,597,418 (GRCm38)	E424G	probably damaging	Het
Camta1	A	G	4: 151,216,004 (GRCm39)	L972P	possibly damaging	Het
Ccdc159	A	G	9: 21,840,672 (GRCm39)	N80D	possibly damaging	Het
Cdh1	A	C	8: 107,388,604 (GRCm39)	E553D	possibly damaging	Het
Cdk14	T	A	5: 5,423,477 (GRCm39)	E35V	probably benign	Het
Cfap70	A	G	14: 20,450,546 (GRCm39)	L995P	probably damaging	Het
Col18a1	T	A	10: 76,916,673 (GRCm39)	E334V	unknown	Het
Colec12	T	A	18: 9,877,000 (GRCm39)	I741K	unknown	Het
Crot	A	G	5: 9,024,170 (GRCm39)	V342A	probably benign	Het
Ctnnal1	A	G	4: 56,865,036 (GRCm39)	S27P	possibly damaging	Het
Cyp2j9	A	G	4: 96,460,193 (GRCm39)	S437P	probably damaging	Het
Dennd4c	A	T	4: 86,743,160 (GRCm39)	T1001S	probably benign	Het
Dffa	G	A	4: 149,202,276 (GRCm39)	V227I	probably benign	Het
Dnaaf5	T	A	5: 139,159,909 (GRCm39)	H602Q	probably benign	Het
Efcab7	G	T	4: 99,761,902 (GRCm39)	K397N	probably damaging	Het
Egfl6	C	T	X: 165,319,235 (GRCm39)	V379I	probably benign	Het
Fadd	G	A	7: 144,134,384 (GRCm39)	T167I	probably benign	Het
Fam184b	T	C	5: 45,796,484 (GRCm39)	D33G	probably damaging	Het
Fam237b	C	T	5: 5,625,549 (GRCm39)	Q82*	probably null	Het
Fam83h	G	A	15: 75,877,976 (GRCm39)	R141W	probably damaging	Het
Fanci	G	A	7: 79,076,954 (GRCm39)	R564Q	probably damaging	Het
Fat3	A	T	9: 15,908,054 (GRCm39)	D2649E	possibly damaging	Het
Fcrl1	A	G	3: 87,291,918 (GRCm39)	T46A	possibly damaging	Het
Frem3	A	T	8: 81,341,145 (GRCm39)	H1146L	probably damaging	Het
Fyttd1	T	A	16: 32,715,472 (GRCm39)	F133L	probably benign	Het
Gata2	A	G	6: 88,179,505 (GRCm39)	N326D	probably damaging	Het
Gm7298	A	T	6: 121,764,491 (GRCm39)	T1457S	probably damaging	Het
Hdac1-ps	A	T	17: 78,799,075 (GRCm39)	Y22F	probably benign	Het
Heatr5b	C	T	17: 79,141,524 (GRCm39)		probably null	Het
Hfm1	T	A	5: 107,066,329 (GRCm39)	D33V	possibly damaging	Het
Hmcn2	G	A	2: 31,292,450 (GRCm39)	A2447T	possibly damaging	Het
Hs3st3b1	A	G	11: 63,812,331 (GRCm39)	F128S	probably benign	Het
Hs3st6	G	T	17: 24,972,226 (GRCm39)	R56L	possibly damaging	Het
Hsd17b3	C	T	13: 64,212,171 (GRCm39)	M168I	probably damaging	Het
Ighv1-34	G	T	12: 114,814,885 (GRCm39)	D92E	possibly damaging	Het
Itgb4	A	T	11: 115,885,171 (GRCm39)	I1018F	possibly damaging	Het
Itih3	T	C	14: 30,637,605 (GRCm39)	D518G	possibly damaging	Het
Kcnma1	C	T	14: 23,501,666 (GRCm39)		probably null	Het
Klhl11	A	T	11: 100,363,506 (GRCm39)	S17T	probably benign	Het
Lilra6	T	C	7: 3,917,521 (GRCm39)	E158G	possibly damaging	Het
Loxl1	A	G	9: 58,220,037 (GRCm39)	W45R	probably damaging	Het
Lratd1	T	C	12: 14,200,190 (GRCm39)	N179S	probably benign	Het
Lrfn1	G	T	7: 28,166,255 (GRCm39)	V550F	probably damaging	Het
Lrp1	T	C	10: 127,409,368 (GRCm39)	K1584E	probably benign	Het
Lrp4	C	G	2: 91,338,914 (GRCm39)	P1782A	possibly damaging	Het
Map3k1	A	G	13: 111,885,478 (GRCm39)	S1480P	probably damaging	Het
Mark4	G	T	7: 19,160,015 (GRCm39)	N748K	probably benign	Het
Mrpl38	G	A	11: 116,025,900 (GRCm39)	T142M	probably damaging	Het
Mrpl41	T	C	2: 24,864,481 (GRCm39)	T64A	probably benign	Het
Mrps2	G	A	2: 28,359,764 (GRCm39)	R207K	possibly damaging	Het
Myo5a	A	T	9: 75,099,726 (GRCm39)	E96D		Het
Nbas	A	T	12: 13,633,417 (GRCm39)	E2274V	probably damaging	Het
Or4x13	T	C	2: 90,231,338 (GRCm39)	F111S	probably damaging	Het
Or51a8	T	C	7: 102,549,652 (GRCm39)	I26T	probably benign	Het
Or51ac3	T	C	7: 103,213,850 (GRCm39)	D212G	probably damaging	Het
Or5m10b	T	C	2: 85,699,278 (GRCm39)	L114P	possibly damaging	Het
Or5m10b	T	A	2: 85,699,819 (GRCm39)	N294K	probably damaging	Het
Or6c35	T	A	10: 129,169,368 (GRCm39)	I206N	possibly damaging	Het
Pcdhga12	T	A	18: 37,900,288 (GRCm39)	D373E	probably damaging	Het
Pgd	A	C	4: 149,235,596 (GRCm39)	F395V	probably damaging	Het
Pi16	A	G	17: 29,538,363 (GRCm39)	M59V	possibly damaging	Het
Pik3r5	A	T	11: 68,381,720 (GRCm39)	T255S	probably benign	Het
Plch2	A	T	4: 155,068,516 (GRCm39)	V1370E	probably benign	Het
Plec	A	G	15: 76,067,153 (GRCm39)	I1309T	unknown	Het
Ppp2r3d	A	T	9: 124,440,831 (GRCm38)	S22R		Het
Pramel26	A	G	4: 143,542,609 (GRCm39)	C4R	probably damaging	Het
Ptk2b	C	A	14: 66,413,154 (GRCm39)	E342*	probably null	Het
Ptpn23	T	C	9: 110,215,226 (GRCm39)		probably null	Het
Rfx8	A	C	1: 39,722,850 (GRCm39)	S256A	probably damaging	Het
Rnf115	C	T	3: 96,665,337 (GRCm39)	T69I	probably damaging	Het
Rnf213	A	G	11: 119,370,457 (GRCm39)	Y4753C		Het
S100a10	A	C	3: 93,471,590 (GRCm39)	D58A	possibly damaging	Het
Serpina12	T	C	12: 104,004,317 (GRCm39)	K105R	probably benign	Het
Slc20a2	G	A	8: 23,028,900 (GRCm39)	G124S	probably damaging	Het
Stab2	ACC	AC	10: 86,692,561 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,526,635 (GRCm39)	T964N	probably benign	Het
Stxbp5	T	A	10: 9,774,938 (GRCm39)	I72F	probably damaging	Het
Sumf2	T	A	5: 129,891,482 (GRCm39)	M282K	possibly damaging	Het
Tle7	T	C	8: 110,837,580 (GRCm39)	F375L	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tmem185b	G	T	1: 119,454,613 (GRCm39)	V125L	probably benign	Het
Tmtc1	A	G	6: 148,144,714 (GRCm39)	M887T	probably damaging	Het
Tnfaip8	C	T	18: 50,223,512 (GRCm39)	Q83*	probably null	Het
Tnks	A	G	8: 35,306,089 (GRCm39)	V1162A	probably damaging	Het
Tomm70a	T	A	16: 56,961,072 (GRCm39)	Y342N	possibly damaging	Het
Tpo	T	A	12: 30,125,875 (GRCm39)	D828V	probably damaging	Het
Ugt8a	A	T	3: 125,708,338 (GRCm39)	N257K	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vim	T	A	2: 13,579,703 (GRCm39)	M154K	probably damaging	Het
Virma	G	T	4: 11,486,045 (GRCm39)	M1I	probably null	Het
Zfp715	A	T	7: 42,950,653 (GRCm39)	M100K	probably benign	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zmynd8	A	T	2: 165,680,772 (GRCm39)	D236E	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
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
Z1088:Fig4	UTSW	10	41,129,727 (GRCm39)	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