Incidental Mutation 'IGL02337:Fsip1'
ID |
288888 |
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 # |
IGL02337
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
117960905-118087447 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 118082195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 80
(K80*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155242
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028820]
[ENSMUST00000028821]
[ENSMUST00000231133]
|
AlphaFold |
Q9D3V5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028820
AA Change: K80*
|
SMART Domains |
Protein: ENSMUSP00000028820 Gene: ENSMUSG00000027344 AA Change: K80*
Domain | Start | End | E-Value | Type |
Pfam:FSIP1
|
4 |
203 |
1.2e-71 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000028821
AA Change: K80*
|
SMART Domains |
Protein: ENSMUSP00000028821 Gene: ENSMUSG00000027344 AA Change: K80*
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
AA Change: K80*
|
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 |
Aaas |
A |
G |
15: 102,247,662 (GRCm39) |
V403A |
probably benign |
Het |
Afm |
A |
G |
5: 90,695,770 (GRCm39) |
T426A |
probably benign |
Het |
Atp8a2 |
T |
C |
14: 60,235,451 (GRCm39) |
D697G |
probably benign |
Het |
Barhl1 |
G |
T |
2: 28,801,431 (GRCm39) |
S204R |
probably damaging |
Het |
Ceacam11 |
T |
A |
7: 17,707,550 (GRCm39) |
S111R |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,926,037 (GRCm39) |
|
probably benign |
Het |
Cnot11 |
G |
A |
1: 39,583,964 (GRCm39) |
|
probably benign |
Het |
Ctc1 |
A |
G |
11: 68,916,957 (GRCm39) |
T284A |
probably damaging |
Het |
Ephb3 |
A |
G |
16: 21,040,253 (GRCm39) |
|
probably null |
Het |
Gaa |
G |
T |
11: 119,168,429 (GRCm39) |
G220C |
probably damaging |
Het |
Gna15 |
T |
C |
10: 81,350,244 (GRCm39) |
S53G |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 107,052,133 (GRCm39) |
M321K |
possibly damaging |
Het |
Hgfac |
C |
A |
5: 35,199,722 (GRCm39) |
T68K |
probably benign |
Het |
Hmgxb4 |
C |
T |
8: 75,726,259 (GRCm39) |
R35W |
probably damaging |
Het |
Itfg2 |
T |
C |
6: 128,390,533 (GRCm39) |
D184G |
probably benign |
Het |
Kirrel1 |
G |
A |
3: 86,996,519 (GRCm39) |
T360I |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,412,756 (GRCm39) |
Q1240R |
possibly damaging |
Het |
Lrrk1 |
G |
T |
7: 65,929,164 (GRCm39) |
T1156N |
possibly damaging |
Het |
Olfm1 |
A |
G |
2: 28,119,697 (GRCm39) |
Y429C |
probably damaging |
Het |
Or4k77 |
T |
G |
2: 111,199,496 (GRCm39) |
V173G |
probably benign |
Het |
Or5t5 |
T |
A |
2: 86,616,518 (GRCm39) |
M148K |
probably damaging |
Het |
Pafah1b2 |
C |
T |
9: 45,884,287 (GRCm39) |
V122I |
probably benign |
Het |
Pdcd1 |
T |
C |
1: 93,968,582 (GRCm39) |
T151A |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,892,079 (GRCm39) |
S697G |
probably damaging |
Het |
Rgs12 |
T |
A |
5: 35,177,697 (GRCm39) |
F96I |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,127,672 (GRCm39) |
D176G |
probably benign |
Het |
Tarbp2 |
C |
A |
15: 102,430,428 (GRCm39) |
Q148K |
probably damaging |
Het |
Txk |
T |
C |
5: 72,864,889 (GRCm39) |
R329G |
possibly damaging |
Het |
Unc79 |
T |
A |
12: 103,122,705 (GRCm39) |
|
probably benign |
Het |
Vmn1r73 |
C |
A |
7: 11,490,640 (GRCm39) |
P153T |
possibly damaging |
Het |
Zeb2 |
G |
A |
2: 44,887,242 (GRCm39) |
T605I |
probably damaging |
Het |
Zfp654 |
A |
G |
16: 64,605,512 (GRCm39) |
S897P |
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 |
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 |
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 |
2015-04-16 |