Incidental Mutation 'IGL03161:Fignl1'
| ID |
411406 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fignl1
|
| Ensembl Gene |
ENSMUSG00000035455 |
| Gene Name |
fidgetin-like 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03161
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
11750288-11758983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 11752680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 125
(M125R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047689]
[ENSMUST00000109664]
[ENSMUST00000150714]
[ENSMUST00000171080]
[ENSMUST00000171938]
|
| AlphaFold |
Q8BPY9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047689
AA Change: M125R
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000036932
Gene: ENSMUSG00000035455
AA Change: M125R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
214 |
N/A |
INTRINSIC |
|
AAA
|
442 |
578 |
2.62e-20 |
SMART |
|
Pfam:Vps4_C
|
635 |
680 |
6.5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109664
AA Change: M125R
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105290
Gene: ENSMUSG00000035455
AA Change: M125R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
214 |
N/A |
INTRINSIC |
|
AAA
|
442 |
578 |
2.62e-20 |
SMART |
|
Pfam:Vps4_C
|
635 |
680 |
6.5e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123815
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150714
|
| SMART Domains |
Protein: ENSMUSP00000119528
Gene: ENSMUSG00000035455
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152345
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171080
AA Change: M125R
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000127489
Gene: ENSMUSG00000035455
AA Change: M125R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
214 |
N/A |
INTRINSIC |
|
AAA
|
442 |
578 |
2.62e-20 |
SMART |
|
Pfam:Vps4_C
|
635 |
680 |
9.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171938
AA Change: M125R
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126340
Gene: ENSMUSG00000035455
AA Change: M125R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
214 |
N/A |
INTRINSIC |
|
AAA
|
442 |
578 |
2.62e-20 |
SMART |
|
Pfam:Vps4_C
|
635 |
680 |
6.5e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA ATPase family of proteins. The encoded protein is recruited to sites of DNA damage where it plays a role in DNA double-strand break repair via homologous recombination. This protein has also been shown to localize to the centrosome and inhibit ciliogenesis, and may regulate the proliferation and differentiation of osteoblasts. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579G24Rik |
T |
C |
3: 79,536,493 (GRCm39) |
|
probably benign |
Het |
| Abtb2 |
G |
T |
2: 103,397,799 (GRCm39) |
R243L |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,292,168 (GRCm39) |
E871G |
possibly damaging |
Het |
| Ascc3 |
A |
T |
10: 50,494,168 (GRCm39) |
N201I |
probably damaging |
Het |
| Aste1 |
A |
T |
9: 105,273,871 (GRCm39) |
H37L |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,106,429 (GRCm39) |
|
probably benign |
Het |
| Cand2 |
C |
A |
6: 115,769,698 (GRCm39) |
T836K |
probably benign |
Het |
| Dnah7c |
G |
A |
1: 46,506,456 (GRCm39) |
A178T |
probably benign |
Het |
| Dnm2 |
A |
G |
9: 21,397,020 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,900,987 (GRCm39) |
D326G |
probably damaging |
Het |
| Gabarapl2 |
T |
A |
8: 112,669,168 (GRCm39) |
V42D |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,100 (GRCm39) |
V1957A |
probably damaging |
Het |
| Hps1 |
T |
C |
19: 42,755,710 (GRCm39) |
E172G |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,371,707 (GRCm39) |
D33G |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,376,255 (GRCm39) |
N1542D |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,557,977 (GRCm39) |
Y179H |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,570,766 (GRCm39) |
S609P |
possibly damaging |
Het |
| Nacad |
G |
A |
11: 6,550,378 (GRCm39) |
Q938* |
probably null |
Het |
| Odad3 |
A |
G |
9: 21,913,611 (GRCm39) |
S54P |
probably benign |
Het |
| Or4k45 |
T |
C |
2: 111,395,676 (GRCm39) |
I38V |
possibly damaging |
Het |
| Or4p22 |
G |
A |
2: 88,317,792 (GRCm39) |
A239T |
probably benign |
Het |
| Pik3c3 |
C |
T |
18: 30,426,760 (GRCm39) |
T292I |
probably benign |
Het |
| Prss3b |
A |
T |
6: 41,011,240 (GRCm39) |
H47Q |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,591,241 (GRCm39) |
V1351A |
probably benign |
Het |
| Spg7 |
T |
C |
8: 123,814,070 (GRCm39) |
M443T |
probably damaging |
Het |
| Spmip9 |
T |
C |
6: 70,890,519 (GRCm39) |
E91G |
probably benign |
Het |
| Tcof1 |
A |
G |
18: 60,966,560 (GRCm39) |
S344P |
possibly damaging |
Het |
| Tm4sf5 |
T |
A |
11: 70,401,098 (GRCm39) |
S105T |
probably benign |
Het |
| Tmem119 |
A |
G |
5: 113,932,961 (GRCm39) |
V280A |
possibly damaging |
Het |
| Trbv20 |
A |
T |
6: 41,165,757 (GRCm39) |
I61L |
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,738,853 (GRCm39) |
|
probably benign |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,204 (GRCm39) |
M191L |
possibly damaging |
Het |
| Vta1 |
A |
T |
10: 14,543,716 (GRCm39) |
H219Q |
possibly damaging |
Het |
|
| Other mutations in Fignl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02377:Fignl1
|
APN |
11 |
11,752,845 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02634:Fignl1
|
APN |
11 |
11,752,756 (GRCm39) |
nonsense |
probably null |
|
|
R0226:Fignl1
|
UTSW |
11 |
11,751,061 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2019:Fignl1
|
UTSW |
11 |
11,752,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4611:Fignl1
|
UTSW |
11 |
11,751,268 (GRCm39) |
missense |
probably benign |
|
|
R4744:Fignl1
|
UTSW |
11 |
11,751,585 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5182:Fignl1
|
UTSW |
11 |
11,751,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5322:Fignl1
|
UTSW |
11 |
11,751,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5470:Fignl1
|
UTSW |
11 |
11,752,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5551:Fignl1
|
UTSW |
11 |
11,751,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5765:Fignl1
|
UTSW |
11 |
11,752,011 (GRCm39) |
splice site |
probably null |
|
|
R6135:Fignl1
|
UTSW |
11 |
11,752,557 (GRCm39) |
missense |
probably benign |
|
|
R7714:Fignl1
|
UTSW |
11 |
11,752,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8996:Fignl1
|
UTSW |
11 |
11,752,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9065:Fignl1
|
UTSW |
11 |
11,752,692 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9467:Fignl1
|
UTSW |
11 |
11,751,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9558:Fignl1
|
UTSW |
11 |
11,751,778 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9729:Fignl1
|
UTSW |
11 |
11,752,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation