Incidental Mutation 'IGL01676:Fsip1'
ID |
103656 |
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 # |
IGL01676
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
117960905-118087447 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 118070865 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 benign
Transcript: ENSMUST00000028821
|
SMART Domains |
Protein: ENSMUSP00000028821 Gene: ENSMUSG00000027344
Domain | Start | End | E-Value | Type |
Pfam:FSIP1
|
4 |
405 |
5.9e-156 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231133
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
A |
T |
7: 119,307,866 (GRCm39) |
R334S |
probably benign |
Het |
Adamts3 |
A |
T |
5: 89,825,613 (GRCm39) |
F1075L |
probably benign |
Het |
Adamts3 |
A |
G |
5: 90,029,402 (GRCm39) |
V30A |
possibly damaging |
Het |
Bpifb5 |
A |
G |
2: 154,070,969 (GRCm39) |
N223D |
possibly damaging |
Het |
Cacna1e |
T |
C |
1: 154,274,222 (GRCm39) |
R2228G |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,288,196 (GRCm39) |
E1894G |
probably damaging |
Het |
Calr4 |
A |
G |
4: 109,101,447 (GRCm39) |
K110E |
probably damaging |
Het |
Catsperz |
G |
T |
19: 6,902,421 (GRCm39) |
Y24* |
probably null |
Het |
Clec9a |
T |
G |
6: 129,398,118 (GRCm39) |
S219A |
probably benign |
Het |
Csrnp3 |
T |
A |
2: 65,779,336 (GRCm39) |
I16N |
probably damaging |
Het |
Ddx19a |
A |
G |
8: 111,707,621 (GRCm39) |
|
probably null |
Het |
Diaph1 |
G |
A |
18: 37,989,241 (GRCm39) |
Q905* |
probably null |
Het |
Dnah10 |
T |
C |
5: 124,880,392 (GRCm39) |
M2743T |
possibly damaging |
Het |
Ears2 |
A |
T |
7: 121,643,781 (GRCm39) |
D392E |
probably benign |
Het |
Ighv1-74 |
T |
C |
12: 115,766,323 (GRCm39) |
Y98C |
possibly damaging |
Het |
Igsf10 |
T |
C |
3: 59,233,432 (GRCm39) |
K1767R |
probably benign |
Het |
Igsf10 |
C |
T |
3: 59,236,756 (GRCm39) |
A1142T |
probably benign |
Het |
Lpar6 |
A |
G |
14: 73,477,010 (GRCm39) |
N324D |
probably benign |
Het |
Lrit1 |
T |
A |
14: 36,779,394 (GRCm39) |
L109Q |
probably damaging |
Het |
Nlrp4f |
A |
T |
13: 65,342,933 (GRCm39) |
D237E |
possibly damaging |
Het |
Oas1h |
G |
T |
5: 121,009,897 (GRCm39) |
G324V |
probably damaging |
Het |
Pak1 |
T |
G |
7: 97,532,738 (GRCm39) |
D179E |
probably benign |
Het |
Prop1 |
T |
A |
11: 50,842,956 (GRCm39) |
Q77L |
probably damaging |
Het |
Scn10a |
A |
T |
9: 119,501,231 (GRCm39) |
Y184* |
probably null |
Het |
Sdk1 |
T |
C |
5: 142,113,591 (GRCm39) |
F1546S |
probably damaging |
Het |
Trim67 |
A |
T |
8: 125,541,899 (GRCm39) |
I366F |
possibly damaging |
Het |
Vmn2r94 |
T |
G |
17: 18,477,272 (GRCm39) |
M380L |
probably benign |
Het |
Vmn2r-ps158 |
A |
G |
7: 42,674,133 (GRCm39) |
N397S |
probably damaging |
Het |
Zfand3 |
T |
G |
17: 30,354,337 (GRCm39) |
S51R |
possibly damaging |
Het |
Zfp36l3 |
T |
C |
X: 52,777,624 (GRCm39) |
S197G |
probably benign |
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 |
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 |
IGL03101:Fsip1
|
APN |
2 |
118,072,144 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-01-21 |