Incidental Mutation 'IGL03101:Fsip1'
ID |
418724 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fsip1
|
Ensembl Gene |
ENSMUSG00000027344 |
Gene Name |
fibrous sheath-interacting protein 1 |
Synonyms |
4933432K11Rik, 1700012M13Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
IGL03101
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
117960905-118087447 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118072144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 213
(Y213C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155242
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028820]
[ENSMUST00000028821]
[ENSMUST00000231133]
|
AlphaFold |
Q9D3V5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028820
|
SMART Domains |
Protein: ENSMUSP00000028820 Gene: ENSMUSG00000027344
Domain | Start | End | E-Value | Type |
Pfam:FSIP1
|
4 |
203 |
1.2e-71 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028821
AA Change: Y213C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028821 Gene: ENSMUSG00000027344 AA Change: Y213C
Domain | Start | End | E-Value | Type |
Pfam:FSIP1
|
4 |
405 |
5.9e-156 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000231133
AA Change: Y213C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA474408 |
A |
T |
7: 109,660,177 (GRCm39) |
|
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,207,732 (GRCm39) |
V23D |
probably damaging |
Het |
Adam8 |
G |
T |
7: 139,568,456 (GRCm39) |
N260K |
possibly damaging |
Het |
Ap3b1 |
A |
T |
13: 94,591,906 (GRCm39) |
I457L |
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,867,421 (GRCm39) |
N808S |
possibly damaging |
Het |
Arhgef26 |
A |
G |
3: 62,327,082 (GRCm39) |
T532A |
possibly damaging |
Het |
Cfap65 |
G |
T |
1: 74,967,592 (GRCm39) |
T162N |
possibly damaging |
Het |
Clec12b |
A |
G |
6: 129,356,480 (GRCm39) |
|
probably null |
Het |
Creb3 |
T |
C |
4: 43,563,081 (GRCm39) |
V60A |
probably benign |
Het |
Cyp11b1 |
A |
G |
15: 74,707,703 (GRCm39) |
F469L |
probably benign |
Het |
Defb28 |
A |
T |
2: 152,362,047 (GRCm39) |
E69V |
possibly damaging |
Het |
Etnppl |
T |
C |
3: 130,415,967 (GRCm39) |
L118S |
probably damaging |
Het |
Glb1l2 |
A |
G |
9: 26,676,421 (GRCm39) |
W480R |
probably damaging |
Het |
Herc1 |
A |
T |
9: 66,395,279 (GRCm39) |
M4205L |
probably benign |
Het |
Kif5a |
A |
T |
10: 127,071,478 (GRCm39) |
|
probably benign |
Het |
Lmbrd2 |
C |
T |
15: 9,186,695 (GRCm39) |
R557C |
probably damaging |
Het |
Map4k3 |
A |
G |
17: 80,963,284 (GRCm39) |
|
probably null |
Het |
Npc1 |
A |
G |
18: 12,331,596 (GRCm39) |
I858T |
probably benign |
Het |
Or7e173 |
T |
C |
9: 19,938,725 (GRCm39) |
T170A |
probably benign |
Het |
Pecam1 |
A |
G |
11: 106,588,177 (GRCm39) |
V92A |
probably damaging |
Het |
Rbm43 |
A |
T |
2: 51,816,757 (GRCm39) |
I70N |
probably benign |
Het |
Rps6kb1 |
T |
C |
11: 86,393,708 (GRCm39) |
Y474C |
probably benign |
Het |
Slco2a1 |
G |
A |
9: 102,954,205 (GRCm39) |
G459R |
possibly damaging |
Het |
Snca |
T |
A |
6: 60,804,595 (GRCm39) |
|
probably benign |
Het |
Spata31f1e |
T |
C |
4: 42,793,424 (GRCm39) |
D236G |
possibly damaging |
Het |
Stap2 |
T |
A |
17: 56,309,029 (GRCm39) |
I113F |
probably damaging |
Het |
Tas2r140 |
T |
C |
6: 40,468,764 (GRCm39) |
M198T |
probably benign |
Het |
Trim9 |
T |
C |
12: 70,393,428 (GRCm39) |
E172G |
probably damaging |
Het |
Ttll7 |
T |
C |
3: 146,602,445 (GRCm39) |
V81A |
possibly damaging |
Het |
Vmn2r103 |
A |
G |
17: 19,993,782 (GRCm39) |
Y53C |
probably damaging |
Het |
Vmn2r22 |
C |
A |
6: 123,614,295 (GRCm39) |
A432S |
probably benign |
Het |
Zfp943 |
T |
C |
17: 22,211,156 (GRCm39) |
S81P |
probably damaging |
Het |
|
Other mutations in Fsip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00819:Fsip1
|
APN |
2 |
118,080,393 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01676:Fsip1
|
APN |
2 |
118,070,865 (GRCm39) |
splice site |
probably benign |
|
IGL02039:Fsip1
|
APN |
2 |
118,070,895 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02337:Fsip1
|
APN |
2 |
118,082,195 (GRCm39) |
nonsense |
probably null |
|
IGL02668:Fsip1
|
APN |
2 |
118,082,206 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03155:Fsip1
|
APN |
2 |
118,082,220 (GRCm39) |
missense |
probably benign |
0.06 |
R0045:Fsip1
|
UTSW |
2 |
118,078,773 (GRCm39) |
splice site |
probably null |
|
R0045:Fsip1
|
UTSW |
2 |
118,078,773 (GRCm39) |
splice site |
probably null |
|
R1225:Fsip1
|
UTSW |
2 |
118,078,831 (GRCm39) |
missense |
probably damaging |
0.98 |
R1824:Fsip1
|
UTSW |
2 |
118,063,389 (GRCm39) |
missense |
probably damaging |
0.98 |
R2048:Fsip1
|
UTSW |
2 |
118,072,197 (GRCm39) |
missense |
probably damaging |
0.97 |
R2229:Fsip1
|
UTSW |
2 |
118,052,925 (GRCm39) |
missense |
probably benign |
0.00 |
R3026:Fsip1
|
UTSW |
2 |
118,080,384 (GRCm39) |
missense |
probably benign |
0.06 |
R3746:Fsip1
|
UTSW |
2 |
118,063,531 (GRCm39) |
missense |
probably damaging |
0.98 |
R6275:Fsip1
|
UTSW |
2 |
118,035,583 (GRCm39) |
missense |
probably benign |
0.06 |
R6395:Fsip1
|
UTSW |
2 |
118,067,406 (GRCm39) |
missense |
probably damaging |
0.99 |
R6923:Fsip1
|
UTSW |
2 |
118,080,394 (GRCm39) |
missense |
probably benign |
0.01 |
R7868:Fsip1
|
UTSW |
2 |
117,966,967 (GRCm39) |
nonsense |
probably null |
|
R7942:Fsip1
|
UTSW |
2 |
117,967,092 (GRCm39) |
missense |
probably benign |
0.19 |
R8237:Fsip1
|
UTSW |
2 |
118,063,483 (GRCm39) |
missense |
probably damaging |
0.99 |
R8245:Fsip1
|
UTSW |
2 |
118,075,359 (GRCm39) |
missense |
unknown |
|
R8345:Fsip1
|
UTSW |
2 |
118,070,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R8376:Fsip1
|
UTSW |
2 |
118,063,519 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8765:Fsip1
|
UTSW |
2 |
118,082,154 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9734:Fsip1
|
UTSW |
2 |
118,070,916 (GRCm39) |
missense |
probably benign |
|
Z1176:Fsip1
|
UTSW |
2 |
117,966,964 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Posted On |
2016-08-02 |