Incidental Mutation 'R0045:Fsip1'
ID |
15722 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fsip1
|
Ensembl Gene |
ENSMUSG00000027344 |
Gene Name |
fibrous sheath-interacting protein 1 |
Synonyms |
4933432K11Rik, 1700012M13Rik |
MMRRC Submission |
038339-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R0045 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
117960905-118087447 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
C to A
at 118078773 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 null
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 null
Transcript: ENSMUST00000028821
|
SMART Domains |
Protein: ENSMUSP00000028821 Gene: ENSMUSG00000027344
Domain | Start | End | E-Value | Type |
Pfam:FSIP1
|
4 |
405 |
5.9e-156 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175627
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189100
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231133
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 81.3%
- 3x: 72.5%
- 10x: 50.2%
- 20x: 29.9%
|
Validation Efficiency |
92% (56/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl1 |
T |
C |
7: 76,348,588 (GRCm39) |
|
probably null |
Het |
Ap3b2 |
T |
C |
7: 81,115,941 (GRCm39) |
D650G |
possibly damaging |
Het |
Arhgap30 |
A |
G |
1: 171,235,998 (GRCm39) |
S791G |
probably benign |
Het |
Ascc3 |
C |
T |
10: 50,594,498 (GRCm39) |
R1198* |
probably null |
Het |
Atf2 |
G |
T |
2: 73,660,200 (GRCm39) |
T189N |
probably benign |
Het |
Atf7ip |
A |
G |
6: 136,536,814 (GRCm39) |
K16E |
probably damaging |
Het |
C8a |
T |
C |
4: 104,684,012 (GRCm39) |
K368E |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,366,757 (GRCm39) |
Y241C |
probably damaging |
Het |
Cdon |
G |
A |
9: 35,398,103 (GRCm39) |
S940N |
probably benign |
Het |
Cds2 |
G |
T |
2: 132,147,075 (GRCm39) |
G402V |
possibly damaging |
Het |
Cog6 |
T |
C |
3: 52,900,171 (GRCm39) |
|
probably null |
Het |
Dram2 |
T |
C |
3: 106,478,133 (GRCm39) |
V155A |
possibly damaging |
Het |
Exoc3l |
C |
T |
8: 106,020,317 (GRCm39) |
V203M |
probably damaging |
Het |
Htra1 |
T |
A |
7: 130,563,262 (GRCm39) |
S164R |
probably damaging |
Het |
Kcnq4 |
T |
A |
4: 120,555,152 (GRCm39) |
D677V |
probably damaging |
Het |
Lcn5 |
T |
C |
2: 25,550,710 (GRCm39) |
S133P |
probably damaging |
Het |
Liph |
T |
C |
16: 21,786,803 (GRCm39) |
Y271C |
probably damaging |
Het |
Lpcat3 |
T |
C |
6: 124,678,437 (GRCm39) |
I228T |
probably benign |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Pcsk6 |
T |
A |
7: 65,612,676 (GRCm39) |
C315S |
probably damaging |
Het |
Rapgef4 |
A |
G |
2: 72,029,122 (GRCm39) |
H398R |
possibly damaging |
Het |
Rpgrip1 |
A |
T |
14: 52,378,601 (GRCm39) |
T509S |
possibly damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,255,622 (GRCm39) |
I1032T |
probably damaging |
Het |
Tecta |
G |
A |
9: 42,286,487 (GRCm39) |
T723I |
probably damaging |
Het |
Trpv4 |
A |
G |
5: 114,774,518 (GRCm39) |
S189P |
probably benign |
Het |
Vac14 |
G |
A |
8: 111,363,584 (GRCm39) |
D340N |
probably benign |
Het |
Vars1 |
A |
T |
17: 35,229,595 (GRCm39) |
H404L |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,618,174 (GRCm39) |
L693* |
probably null |
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 |
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 |
|
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 |
2012-12-21 |