Mutagenetix > Incidental Mutation

Incidental Mutation 'R8263:Fig4'

639798

Institutional Source

Beutler Lab

Gene Symbol

Fig4

Ensembl Gene

ENSMUSG00000038417

Gene Name

FIG4 phosphoinositide 5-phosphatase

Synonyms

A530089I17Rik

MMRRC Submission

067688-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.599) question?

Stock #

R8263 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41064168-41179237 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 41143711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 249 (Y249*)

Ref Sequence

ENSEMBL: ENSMUSP00000039598 (fasta)

Gene Model

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

AlphaFold

Q91WF7

Predicted Effect

probably null
Transcript: ENSMUST00000043814
AA Change: Y249*

SMART Domains

Protein: ENSMUSP00000039598
Gene: ENSMUSG00000038417
AA Change: Y249*

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095N17Rik	T	A	1: 75,208,683 (GRCm39)	R12S	unknown	Het
Ankrd10	C	T	8: 11,665,707 (GRCm39)	V298I	probably benign	Het
Atg4d	T	A	9: 21,178,335 (GRCm39)	M151K	probably damaging	Het
Calhm5	C	A	10: 33,972,192 (GRCm39)	C81F	probably damaging	Het
Casp8ap2	T	A	4: 32,644,072 (GRCm39)	H1048Q	probably damaging	Het
Cd300ld2	A	G	11: 114,903,192 (GRCm39)	S218P	unknown	Het
Clec3a	T	C	8: 115,152,369 (GRCm39)	V125A	probably benign	Het
Cnot6	A	T	11: 49,573,002 (GRCm39)	Y241N	probably damaging	Het
Dnah1	A	T	14: 31,015,134 (GRCm39)	F1686Y	probably damaging	Het
Dnah12	A	G	14: 26,613,421 (GRCm39)	K1285E	noncoding transcript	Het
Dop1b	T	C	16: 93,559,083 (GRCm39)	S610P	possibly damaging	Het
Ehhadh	A	T	16: 21,592,295 (GRCm39)	L136H	probably damaging	Het
Epha7	A	G	4: 28,821,149 (GRCm39)	T105A	probably damaging	Het
Etl4	A	T	2: 20,748,965 (GRCm39)	E434D	probably benign	Het
Fastkd2	T	C	1: 63,770,968 (GRCm39)	V108A	probably benign	Het
Fat2	G	A	11: 55,174,962 (GRCm39)	T1917I	probably benign	Het
Fbxo45	A	G	16: 32,065,533 (GRCm39)	S33P	unknown	Het
Fryl	T	C	5: 73,238,348 (GRCm39)	Y1466C	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Glod4	T	C	11: 76,125,318 (GRCm39)	D147G	possibly damaging	Het
Gm12695	T	G	4: 96,651,046 (GRCm39)	M136L	probably benign	Het
Gm5422	A	G	10: 31,125,099 (GRCm39)	T313A	noncoding transcript	Het
Hydin	C	A	8: 111,178,705 (GRCm39)	A1100D	probably benign	Het
Ift172	G	A	5: 31,422,681 (GRCm39)	A923V	possibly damaging	Het
Irgc	G	A	7: 24,132,107 (GRCm39)	H237Y	probably damaging	Het
Itga11	T	C	9: 62,604,262 (GRCm39)	I50T	possibly damaging	Het
Itpr3	C	T	17: 27,334,887 (GRCm39)	Q2134*	probably null	Het
Kat8	A	T	7: 127,523,653 (GRCm39)	D292V	possibly damaging	Het
Kdm2a	A	G	19: 4,374,392 (GRCm39)	M913T	possibly damaging	Het
Larp4	T	C	15: 99,883,961 (GRCm39)	V66A	probably benign	Het
Loxhd1	A	G	18: 77,462,858 (GRCm39)	D899G	probably damaging	Het
Lrrc47	G	T	4: 154,100,486 (GRCm39)	R354L	probably damaging	Het
Lss	C	T	10: 76,367,739 (GRCm39)	R24C	probably damaging	Het
Mmp14	C	T	14: 54,673,244 (GRCm39)	R51C	probably damaging	Het
Mon1a	C	T	9: 107,775,993 (GRCm39)	T37I	probably benign	Het
Mtcl2	A	G	2: 156,869,510 (GRCm39)	W1042R	possibly damaging	Het
Nacc2	A	C	2: 25,952,240 (GRCm39)	V372G	probably damaging	Het
Ncapg	T	C	5: 45,849,134 (GRCm39)	V690A	probably benign	Het
Nhej1	A	G	1: 75,006,896 (GRCm39)	L152P	probably damaging	Het
Nol4l	A	T	2: 153,259,337 (GRCm39)	S522R	probably damaging	Het
Nr0b2	A	G	4: 133,281,241 (GRCm39)	Y169C	probably damaging	Het
Numa1	A	G	7: 101,648,491 (GRCm39)	M741V	probably benign	Het
Or10d1b	A	G	9: 39,613,453 (GRCm39)	M204T	possibly damaging	Het
Or8g28	A	G	9: 39,169,899 (GRCm39)	L26P	probably damaging	Het
Pebp1	C	A	5: 117,425,473 (GRCm39)		probably null	Het
Pik3ip1	A	T	11: 3,291,581 (GRCm39)	I217F	probably damaging	Het
Plekhg1	T	A	10: 3,907,651 (GRCm39)	I911N		Het
Pnpla8	T	C	12: 44,342,846 (GRCm39)	I534T	probably damaging	Het
Ppp2r2a	A	T	14: 67,261,205 (GRCm39)	F172I	probably damaging	Het
Rab7	C	T	6: 87,989,292 (GRCm39)	M59I	probably benign	Het
Rbm34	T	C	8: 127,692,139 (GRCm39)	N201S	probably benign	Het
Rfx1	G	T	8: 84,821,483 (GRCm39)	R764L	probably damaging	Het
Rnase12	T	A	14: 51,294,580 (GRCm39)	D33V	probably damaging	Het
Rnf121	A	G	7: 101,684,532 (GRCm39)	L127P	probably damaging	Het
Rtl1	C	A	12: 109,560,180 (GRCm39)	R553L	probably damaging	Het
Scn8a	T	C	15: 100,881,736 (GRCm39)	L601P	probably damaging	Het
Scyl2	G	T	10: 89,476,525 (GRCm39)	Q867K	possibly damaging	Het
Sgtb	T	C	13: 104,268,692 (GRCm39)	F213L	probably benign	Het
Slc35f4	A	G	14: 49,551,084 (GRCm39)	V260A	probably damaging	Het
Slfn14	A	G	11: 83,174,299 (GRCm39)	Y231H	possibly damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Stard13	G	A	5: 151,157,106 (GRCm39)	A25V	possibly damaging	Het
Stk38	C	T	17: 29,203,161 (GRCm39)	R135H	probably damaging	Het
Svil	A	G	18: 5,108,679 (GRCm39)	D1939G	probably damaging	Het
Tasor2	C	T	13: 3,625,286 (GRCm39)	V1555I	possibly damaging	Het
Tasor2	G	T	13: 3,640,016 (GRCm39)	P374T	probably benign	Het
Tbc1d7	A	G	13: 43,323,340 (GRCm39)	V17A	possibly damaging	Het
Trpc4	T	C	3: 54,129,756 (GRCm39)	V174A	probably damaging	Het
Ttn	G	T	2: 76,619,028 (GRCm39)	T16117K	probably damaging	Het
Tubb3	T	A	8: 124,147,868 (GRCm39)	M267K	possibly damaging	Het
Upk1b	T	C	16: 38,604,585 (GRCm39)	T147A	probably damaging	Het
Vmn2r107	G	T	17: 20,580,614 (GRCm39)	C517F	probably damaging	Het
Vmn2r112	A	G	17: 22,824,140 (GRCm39)	D465G	probably damaging	Het
Vmn2r73	A	T	7: 85,507,619 (GRCm39)	H564Q	probably benign	Het
Vmn2r79	A	G	7: 86,686,726 (GRCm39)	I702M	possibly damaging	Het
Vmn2r84	A	G	10: 130,227,037 (GRCm39)	V267A	probably damaging	Het
Zfp445	T	C	9: 122,681,878 (GRCm39)	I688V	probably benign	Het
Zfp955a	C	T	17: 33,463,087 (GRCm39)	V15M	probably damaging	Het
Zfp960	T	A	17: 17,308,202 (GRCm39)	C305*	probably null	Het
Zfp964	A	G	8: 70,116,345 (GRCm39)	D315G	possibly damaging	Het
Zmynd10	T	A	9: 107,426,516 (GRCm39)	I183K	possibly 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
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'- CTTCATGTAGCAGGAAAATGGC -3'
(R):5'- GCCTGCATCTGATCTTGAAGC -3'

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

Posted On

2020-07-28