Mutagenetix > Incidental Mutation

Incidental Mutation 'R4586:Fig4'

344122

Institutional Source

Beutler Lab

Gene Symbol

Fig4

Ensembl Gene

ENSMUSG00000038417

Gene Name

FIG4 phosphoinositide 5-phosphatase

Synonyms

A530089I17Rik

MMRRC Submission

041807-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

R4586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41064168-41179237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 41064628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 872 (S872A)

Ref Sequence

ENSEMBL: ENSMUSP00000039598 (fasta)

Gene Model

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

AlphaFold

Q91WF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000043814
AA Change: S872A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039598
Gene: ENSMUSG00000038417
AA Change: S872A

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

Meta Mutation Damage Score

0.1667

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (96/96)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 4,026,151 (GRCm39)	S1269P	probably benign	Het
Aqr	T	C	2: 113,943,058 (GRCm39)	T1172A	probably benign	Het
Art2a	A	T	7: 101,203,956 (GRCm39)	L194*	probably null	Het
Atrn	T	C	2: 130,823,962 (GRCm39)	F967S	probably damaging	Het
Btnl1	A	G	17: 34,601,436 (GRCm39)	D323G	probably damaging	Het
Cadps	C	A	14: 12,505,808 (GRCm38)	C754F	probably damaging	Het
Catspere2	A	G	1: 177,950,351 (GRCm39)	D734G	possibly damaging	Het
Ccdc7b	A	G	8: 129,837,401 (GRCm39)	T131A	probably benign	Het
Cfap298	A	T	16: 90,724,314 (GRCm39)	V136D	probably damaging	Het
Cic	A	T	7: 24,972,203 (GRCm39)	I645L	probably benign	Het
Clca3a1	C	A	3: 144,722,619 (GRCm39)	C251F	probably damaging	Het
Cldn16	A	T	16: 26,296,308 (GRCm39)	T95S	probably benign	Het
Cntnap4	C	T	8: 113,537,342 (GRCm39)	H738Y	probably benign	Het
Col8a2	A	T	4: 126,204,812 (GRCm39)		probably benign	Het
Corin	A	T	5: 72,487,042 (GRCm39)	V706D	probably damaging	Het
Cuzd1	G	A	7: 130,916,529 (GRCm39)	P310L	probably damaging	Het
Cyp4a12a	T	C	4: 115,184,509 (GRCm39)	F295L	probably benign	Het
Cyp4a12b	T	G	4: 115,289,703 (GRCm39)	M190R	probably damaging	Het
Dagla	A	G	19: 10,248,373 (GRCm39)	Y96H	probably damaging	Het
Dapp1	T	C	3: 137,644,932 (GRCm39)	Q148R	probably benign	Het
Dcaf17	T	A	2: 70,918,924 (GRCm39)	S499R	probably benign	Het
Ddx27	T	A	2: 166,861,904 (GRCm39)	D135E	probably benign	Het
Defb3	A	T	8: 19,345,172 (GRCm39)	I43F	possibly damaging	Het
Dnajc10	T	G	2: 80,178,122 (GRCm39)	F710V	probably damaging	Het
Dnhd1	T	C	7: 105,327,256 (GRCm39)	L735P	probably damaging	Het
Dnmt1	G	A	9: 20,837,989 (GRCm39)	P242S	probably benign	Het
Dync1h1	G	A	12: 110,615,917 (GRCm39)	D3022N	probably benign	Het
Ep400	G	A	5: 110,901,725 (GRCm39)	T464I	probably damaging	Het
Epc1	T	C	18: 6,449,138 (GRCm39)	N453S	possibly damaging	Het
Eral1	A	T	11: 77,969,130 (GRCm39)	N123K	probably damaging	Het
Ercc5	G	A	1: 44,198,017 (GRCm39)	V145I	probably benign	Het
Evc	A	G	5: 37,481,057 (GRCm39)	S263P	probably damaging	Het
Fancc	A	T	13: 63,495,378 (GRCm39)	M182K	probably benign	Het
Fbxl3	G	T	14: 103,320,526 (GRCm39)	A355E	probably damaging	Het
Gm14393	C	A	2: 174,904,497 (GRCm39)		probably benign	Het
Gm27013	A	T	6: 130,498,003 (GRCm39)		noncoding transcript	Het
Gprc5a	T	A	6: 135,060,450 (GRCm39)	M313K	probably benign	Het
H2ac15	T	C	13: 21,937,882 (GRCm39)	N39S	possibly damaging	Het
H2-T3	T	C	17: 36,500,236 (GRCm39)		probably null	Het
Hap1	G	A	11: 100,245,550 (GRCm39)	T138M	probably benign	Het
Hook3	T	G	8: 26,522,039 (GRCm39)	K679T	probably damaging	Het
Ints2	G	T	11: 86,140,101 (GRCm39)	R244S	probably damaging	Het
Itgb4	T	C	11: 115,884,151 (GRCm39)	V945A	probably damaging	Het
Itih2	C	T	2: 10,115,211 (GRCm39)	S387N	probably benign	Het
Jmjd7	T	A	2: 119,862,649 (GRCm39)	M306K	probably benign	Het
Klra2	T	A	6: 131,207,120 (GRCm39)	D163V	probably benign	Het
Kmo	T	A	1: 175,478,138 (GRCm39)	M208K	probably damaging	Het
Kmo	G	T	1: 175,478,139 (GRCm39)	M208I	possibly damaging	Het
Masp2	A	G	4: 148,698,358 (GRCm39)	T480A	probably damaging	Het
Mogs	G	T	6: 83,095,619 (GRCm39)	R812L	possibly damaging	Het
Mrpl43	A	G	19: 44,994,328 (GRCm39)	I97T	possibly damaging	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Ncam2	T	A	16: 81,262,457 (GRCm39)	H303Q	probably benign	Het
Ntaq1	A	T	15: 58,011,740 (GRCm39)	I34F	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Obox1	A	T	7: 15,290,152 (GRCm39)	N165I	possibly damaging	Het
Or1j1	C	T	2: 36,702,537 (GRCm39)	C189Y	probably damaging	Het
Or4b1d	T	A	2: 89,968,558 (GRCm39)	E308D	probably benign	Het
Or4c113	T	G	2: 88,885,498 (GRCm39)	I91L	possibly damaging	Het
Or6c35	A	G	10: 129,169,142 (GRCm39)	T131A	probably benign	Het
Pex1	A	G	5: 3,683,885 (GRCm39)	Y1127C	probably damaging	Het
Pno1	T	C	11: 17,161,438 (GRCm39)	K24E	probably benign	Het
Qdpr	T	A	5: 45,596,669 (GRCm39)	N165I	possibly damaging	Het
Robo2	A	G	16: 73,758,761 (GRCm39)	V674A	probably damaging	Het
Runx1t1	A	T	4: 13,889,864 (GRCm39)	T598S	unknown	Het
Samd11	A	G	4: 156,333,889 (GRCm39)	L174P	probably damaging	Het
Scn2a	T	A	2: 65,573,395 (GRCm39)		probably null	Het
Slc4a1	G	T	11: 102,252,245 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,569,474 (GRCm39)		probably benign	Het
Sox2	A	G	3: 34,705,193 (GRCm39)	N210S	probably benign	Het
Spag6	T	C	2: 18,736,958 (GRCm39)		probably null	Het
Speer4b	A	T	5: 27,703,036 (GRCm39)	L154Q	probably null	Het
Stt3a	T	A	9: 36,653,089 (GRCm39)	Q531L	probably damaging	Het
Tcl1	A	C	12: 105,183,767 (GRCm39)		probably benign	Het
Trip11	A	T	12: 101,849,600 (GRCm39)	M1488K	possibly damaging	Het
Ttn	T	C	2: 76,798,747 (GRCm39)	H509R	probably benign	Het
Ulk3	C	T	9: 57,501,593 (GRCm39)	L425F	possibly damaging	Het
Vmn1r238	T	A	18: 3,123,294 (GRCm39)	K40M	probably damaging	Het
Vopp1	G	A	6: 57,731,533 (GRCm39)	P153S	probably damaging	Het
Zbtb42	C	T	12: 112,646,976 (GRCm39)	R384W	probably damaging	Het
Zfp14	G	T	7: 29,738,341 (GRCm39)	Q215K	probably damaging	Het
Zfp473	A	T	7: 44,382,376 (GRCm39)	Y651*	probably null	Het
Zfp735	G	T	11: 73,580,550 (GRCm39)	E16D	possibly damaging	Het
Zfp846	G	T	9: 20,504,809 (GRCm39)	C223F	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
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'- CGAAGGCTGTGATACAGGTG -3'
(R):5'- AGGGACAGCTTCTATCCTTTGG -3'

Sequencing Primer
(F):5'- GGAGTCCTTTACCAATGAGCTGC -3'
(R):5'- TTTGGCCTCCCAGGAAGTAAC -3'

Posted On

2015-09-24