Incidental Mutation 'R5614:Fig4'
| ID |
438149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fig4
|
| Ensembl Gene |
ENSMUSG00000038417 |
| Gene Name |
FIG4 phosphoinositide 5-phosphatase |
| Synonyms |
A530089I17Rik |
| MMRRC Submission |
043275-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.599)
|
| Stock # |
R5614 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
41064168-41179237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41148981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 157
(V157E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043814]
|
| AlphaFold |
Q91WF7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043814
AA Change: V157E
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039598
Gene: ENSMUSG00000038417
AA Change: V157E
| 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 |
0.8543 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (62/62) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,046,132 (GRCm39) |
V1712A |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,243,783 (GRCm39) |
S333P |
probably damaging |
Het |
| Arfrp1 |
A |
G |
2: 181,001,236 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,719,493 (GRCm39) |
T21A |
probably benign |
Het |
| Bud23 |
C |
A |
5: 135,087,966 (GRCm39) |
A152S |
probably benign |
Het |
| Cant1 |
T |
C |
11: 118,299,569 (GRCm39) |
D260G |
probably benign |
Het |
| Ces1b |
T |
C |
8: 93,794,836 (GRCm39) |
I254M |
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,902,832 (GRCm39) |
T375A |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,880,911 (GRCm39) |
L384P |
probably damaging |
Het |
| Chrne |
C |
T |
11: 70,505,879 (GRCm39) |
V469I |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,474,755 (GRCm39) |
E968G |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,694,772 (GRCm39) |
|
probably benign |
Het |
| Dtx4 |
T |
C |
19: 12,459,547 (GRCm39) |
Y419C |
probably damaging |
Het |
| Fam171b |
T |
A |
2: 83,643,217 (GRCm39) |
I42N |
probably damaging |
Het |
| Fam43a |
T |
C |
16: 30,420,490 (GRCm39) |
I358T |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,704,154 (GRCm39) |
S1422G |
probably benign |
Het |
| Fus |
T |
C |
7: 127,573,543 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
G |
T |
2: 31,318,315 (GRCm39) |
V3887F |
probably damaging |
Het |
| Hmgcll1 |
A |
G |
9: 75,988,675 (GRCm39) |
Y182C |
probably damaging |
Het |
| Hook2 |
T |
A |
8: 85,729,137 (GRCm39) |
I585N |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,021,705 (GRCm39) |
T866A |
probably benign |
Het |
| Iqca1l |
G |
A |
5: 24,755,140 (GRCm39) |
A330V |
probably benign |
Het |
| Lrit1 |
T |
A |
14: 36,783,911 (GRCm39) |
M413K |
probably benign |
Het |
| Myl9 |
G |
A |
2: 156,623,083 (GRCm39) |
|
probably benign |
Het |
| Nelfa |
A |
T |
5: 34,077,844 (GRCm39) |
L179Q |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,390,824 (GRCm39) |
D355V |
probably damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,030 (GRCm39) |
S161R |
probably damaging |
Het |
| Nxpe2 |
A |
T |
9: 48,234,401 (GRCm39) |
F289I |
probably benign |
Het |
| Odf2 |
A |
G |
2: 29,810,879 (GRCm39) |
I538M |
probably damaging |
Het |
| Osbpl6 |
T |
A |
2: 76,398,453 (GRCm39) |
V379E |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,143,750 (GRCm39) |
C3859R |
possibly damaging |
Het |
| Rgs1 |
G |
T |
1: 144,121,995 (GRCm39) |
T99N |
probably benign |
Het |
| Rnf6 |
T |
C |
5: 146,154,910 (GRCm39) |
|
probably null |
Het |
| Rtp1 |
C |
A |
16: 23,249,940 (GRCm39) |
Q102K |
possibly damaging |
Het |
| Sec24c |
T |
A |
14: 20,732,806 (GRCm39) |
V123E |
possibly damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,014 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
A |
T |
10: 9,636,638 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,250,351 (GRCm39) |
S1809P |
probably damaging |
Het |
| Tgfb2 |
T |
A |
1: 186,357,710 (GRCm39) |
I394F |
probably benign |
Het |
| Thg1l |
T |
C |
11: 45,841,054 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Tmem67 |
C |
A |
4: 12,061,755 (GRCm39) |
K572N |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,445,825 (GRCm39) |
T19A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,451 (GRCm39) |
Y25185H |
probably damaging |
Het |
| Vgll2 |
A |
T |
10: 51,901,318 (GRCm39) |
R83* |
probably null |
Het |
| Wfdc8 |
G |
T |
2: 164,445,123 (GRCm39) |
A164E |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,111,718 (GRCm39) |
|
probably benign |
Het |
| Zfp326 |
T |
A |
5: 106,036,361 (GRCm39) |
S91T |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,906,623 (GRCm39) |
F263L |
probably damaging |
Het |
| Zfp800 |
G |
A |
6: 28,243,135 (GRCm39) |
T610I |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,804,729 (GRCm39) |
F475L |
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 |
|
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'- AACCATGGCACTGTTACACCTC -3'
(R):5'- TGAGCGATGATTGGCAGATGC -3'
Sequencing Primer
(F):5'- GCACTGTTACACCTCTGCATTAGAAC -3'
(R):5'- GAGCACACTTACTAGGGT -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation