Incidental Mutation 'IGL02974:Fscb'
ID |
406303 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fscb
|
Ensembl Gene |
ENSMUSG00000043060 |
Gene Name |
fibrous sheath CABYR binding protein |
Synonyms |
EG623046 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
IGL02974
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
64518104-64521464 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 64518299 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 1056
(I1056F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051554
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059833]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000059833
AA Change: I1056F
|
SMART Domains |
Protein: ENSMUSP00000051554 Gene: ENSMUSG00000043060 AA Change: I1056F
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
low complexity region
|
273 |
290 |
N/A |
INTRINSIC |
internal_repeat_1
|
295 |
465 |
2.4e-7 |
PROSPERO |
low complexity region
|
483 |
501 |
N/A |
INTRINSIC |
low complexity region
|
510 |
547 |
N/A |
INTRINSIC |
low complexity region
|
558 |
595 |
N/A |
INTRINSIC |
low complexity region
|
599 |
622 |
N/A |
INTRINSIC |
low complexity region
|
641 |
661 |
N/A |
INTRINSIC |
low complexity region
|
673 |
708 |
N/A |
INTRINSIC |
low complexity region
|
721 |
730 |
N/A |
INTRINSIC |
internal_repeat_1
|
736 |
895 |
2.4e-7 |
PROSPERO |
internal_repeat_2
|
751 |
871 |
6.17e-6 |
PROSPERO |
low complexity region
|
899 |
916 |
N/A |
INTRINSIC |
internal_repeat_2
|
919 |
1046 |
6.17e-6 |
PROSPERO |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730480H06Rik |
C |
T |
5: 48,545,479 (GRCm39) |
T242M |
probably damaging |
Het |
Abcg3 |
A |
T |
5: 105,116,129 (GRCm39) |
I235N |
probably damaging |
Het |
Agbl3 |
T |
C |
6: 34,776,757 (GRCm39) |
L416S |
probably damaging |
Het |
Alcam |
T |
C |
16: 52,116,079 (GRCm39) |
D165G |
probably benign |
Het |
Aldh18a1 |
T |
A |
19: 40,557,528 (GRCm39) |
I341F |
probably damaging |
Het |
Amn |
T |
C |
12: 111,237,575 (GRCm39) |
V7A |
probably benign |
Het |
Apc |
C |
T |
18: 34,401,436 (GRCm39) |
|
probably benign |
Het |
Arg2 |
T |
C |
12: 79,197,566 (GRCm39) |
Y195H |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,191,800 (GRCm39) |
M22K |
probably benign |
Het |
Cacna1s |
T |
G |
1: 136,020,355 (GRCm39) |
N797K |
possibly damaging |
Het |
Chd8 |
T |
A |
14: 52,439,158 (GRCm39) |
|
probably null |
Het |
Clstn2 |
G |
A |
9: 97,414,760 (GRCm39) |
T378M |
probably damaging |
Het |
Elf2 |
A |
G |
3: 51,165,110 (GRCm39) |
V298A |
probably damaging |
Het |
Fbn1 |
C |
T |
2: 125,188,250 (GRCm39) |
D1530N |
probably null |
Het |
Fcrl2 |
A |
T |
3: 87,164,704 (GRCm39) |
I274N |
possibly damaging |
Het |
Fmo3 |
C |
T |
1: 162,810,619 (GRCm39) |
E24K |
probably damaging |
Het |
Fndc3b |
A |
T |
3: 27,542,425 (GRCm39) |
N408K |
probably damaging |
Het |
Foxn2 |
A |
T |
17: 88,770,543 (GRCm39) |
N130I |
probably damaging |
Het |
Gimap5 |
A |
C |
6: 48,730,311 (GRCm39) |
T294P |
possibly damaging |
Het |
Gm20489 |
T |
C |
X: 100,307,320 (GRCm39) |
Q11R |
probably damaging |
Het |
Gpr3 |
T |
C |
4: 132,938,220 (GRCm39) |
T151A |
possibly damaging |
Het |
Gzmc |
T |
A |
14: 56,471,451 (GRCm39) |
H30L |
probably damaging |
Het |
Ints6l |
C |
A |
X: 55,552,296 (GRCm39) |
S845Y |
probably benign |
Het |
Iqcf3 |
A |
T |
9: 106,430,844 (GRCm39) |
C101* |
probably null |
Het |
Krt82 |
G |
A |
15: 101,459,020 (GRCm39) |
Q7* |
probably null |
Het |
L3mbtl1 |
A |
T |
2: 162,812,103 (GRCm39) |
H716L |
possibly damaging |
Het |
Lefty1 |
C |
A |
1: 180,762,842 (GRCm39) |
H56Q |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,390,885 (GRCm39) |
Y3004C |
probably damaging |
Het |
Lrp10 |
C |
A |
14: 54,705,341 (GRCm39) |
S177* |
probably null |
Het |
Naa15 |
A |
G |
3: 51,368,628 (GRCm39) |
K576R |
possibly damaging |
Het |
Naip2 |
A |
G |
13: 100,298,186 (GRCm39) |
S617P |
probably damaging |
Het |
Olfm1 |
T |
G |
2: 28,119,701 (GRCm39) |
N445K |
probably damaging |
Het |
Or4ac1-ps1 |
C |
T |
2: 88,370,579 (GRCm39) |
|
silent |
Het |
Or5b24 |
T |
G |
19: 12,912,399 (GRCm39) |
V99G |
probably benign |
Het |
Ostm1 |
T |
A |
10: 42,559,158 (GRCm39) |
N139K |
probably damaging |
Het |
Ovol1 |
A |
G |
19: 5,601,177 (GRCm39) |
Y205H |
probably damaging |
Het |
Pappa |
C |
T |
4: 65,123,172 (GRCm39) |
L836F |
probably damaging |
Het |
Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,636,637 (GRCm39) |
K229E |
probably benign |
Het |
Ppm1b |
T |
A |
17: 85,301,252 (GRCm39) |
V44E |
possibly damaging |
Het |
Rapgef1 |
T |
C |
2: 29,600,228 (GRCm39) |
F611L |
possibly damaging |
Het |
Rev3l |
T |
A |
10: 39,738,743 (GRCm39) |
Y2832* |
probably null |
Het |
Robo1 |
T |
A |
16: 72,803,750 (GRCm39) |
Y1099N |
probably benign |
Het |
Sf3b1 |
T |
C |
1: 55,046,866 (GRCm39) |
H226R |
probably benign |
Het |
Slc26a4 |
C |
T |
12: 31,579,553 (GRCm39) |
V570I |
probably damaging |
Het |
Slc27a1 |
C |
A |
8: 72,036,847 (GRCm39) |
A361D |
probably damaging |
Het |
Srp68 |
T |
C |
11: 116,137,051 (GRCm39) |
N549D |
probably benign |
Het |
Terb1 |
G |
T |
8: 105,221,600 (GRCm39) |
S202* |
probably null |
Het |
Tmc1 |
T |
A |
19: 20,878,208 (GRCm39) |
M96L |
probably benign |
Het |
Tmprss11d |
A |
G |
5: 86,454,235 (GRCm39) |
V190A |
probably damaging |
Het |
Ttll6 |
G |
A |
11: 96,047,528 (GRCm39) |
C709Y |
probably benign |
Het |
Uba1 |
A |
G |
X: 20,544,959 (GRCm39) |
H712R |
probably benign |
Het |
Unc80 |
A |
C |
1: 66,564,817 (GRCm39) |
T835P |
possibly damaging |
Het |
Vmn2r14 |
G |
A |
5: 109,369,292 (GRCm39) |
P94S |
possibly damaging |
Het |
Yes1 |
C |
T |
5: 32,818,112 (GRCm39) |
A383V |
probably damaging |
Het |
|
Other mutations in Fscb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01095:Fscb
|
APN |
12 |
64,520,155 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01099:Fscb
|
APN |
12 |
64,518,875 (GRCm39) |
missense |
unknown |
|
IGL01394:Fscb
|
APN |
12 |
64,520,578 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02570:Fscb
|
APN |
12 |
64,518,952 (GRCm39) |
missense |
unknown |
|
IGL03150:Fscb
|
APN |
12 |
64,519,204 (GRCm39) |
missense |
unknown |
|
IGL03407:Fscb
|
APN |
12 |
64,520,269 (GRCm39) |
missense |
probably damaging |
0.96 |
BB007:Fscb
|
UTSW |
12 |
64,519,337 (GRCm39) |
missense |
unknown |
|
BB017:Fscb
|
UTSW |
12 |
64,519,337 (GRCm39) |
missense |
unknown |
|
FR4548:Fscb
|
UTSW |
12 |
64,519,339 (GRCm39) |
missense |
unknown |
|
FR4548:Fscb
|
UTSW |
12 |
64,519,337 (GRCm39) |
missense |
unknown |
|
R0056:Fscb
|
UTSW |
12 |
64,521,021 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0490:Fscb
|
UTSW |
12 |
64,519,661 (GRCm39) |
missense |
unknown |
|
R0492:Fscb
|
UTSW |
12 |
64,520,292 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0702:Fscb
|
UTSW |
12 |
64,518,775 (GRCm39) |
missense |
unknown |
|
R1017:Fscb
|
UTSW |
12 |
64,520,242 (GRCm39) |
missense |
probably benign |
0.07 |
R1672:Fscb
|
UTSW |
12 |
64,518,292 (GRCm39) |
missense |
unknown |
|
R1737:Fscb
|
UTSW |
12 |
64,521,355 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1795:Fscb
|
UTSW |
12 |
64,521,175 (GRCm39) |
missense |
probably damaging |
0.99 |
R1969:Fscb
|
UTSW |
12 |
64,520,008 (GRCm39) |
missense |
unknown |
|
R1984:Fscb
|
UTSW |
12 |
64,521,457 (GRCm39) |
missense |
unknown |
|
R2164:Fscb
|
UTSW |
12 |
64,520,567 (GRCm39) |
missense |
probably damaging |
0.96 |
R2213:Fscb
|
UTSW |
12 |
64,520,890 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2874:Fscb
|
UTSW |
12 |
64,520,210 (GRCm39) |
missense |
probably benign |
0.00 |
R2878:Fscb
|
UTSW |
12 |
64,519,348 (GRCm39) |
missense |
unknown |
|
R3873:Fscb
|
UTSW |
12 |
64,519,906 (GRCm39) |
missense |
unknown |
|
R4734:Fscb
|
UTSW |
12 |
64,521,244 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4773:Fscb
|
UTSW |
12 |
64,520,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R4940:Fscb
|
UTSW |
12 |
64,520,588 (GRCm39) |
missense |
probably benign |
0.03 |
R4981:Fscb
|
UTSW |
12 |
64,520,393 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5105:Fscb
|
UTSW |
12 |
64,520,110 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5845:Fscb
|
UTSW |
12 |
64,519,558 (GRCm39) |
missense |
unknown |
|
R6049:Fscb
|
UTSW |
12 |
64,521,094 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6743:Fscb
|
UTSW |
12 |
64,518,347 (GRCm39) |
missense |
unknown |
|
R7026:Fscb
|
UTSW |
12 |
64,518,391 (GRCm39) |
missense |
unknown |
|
R7285:Fscb
|
UTSW |
12 |
64,518,323 (GRCm39) |
missense |
unknown |
|
R7372:Fscb
|
UTSW |
12 |
64,518,598 (GRCm39) |
missense |
unknown |
|
R7400:Fscb
|
UTSW |
12 |
64,518,391 (GRCm39) |
missense |
unknown |
|
R7563:Fscb
|
UTSW |
12 |
64,520,059 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7748:Fscb
|
UTSW |
12 |
64,521,181 (GRCm39) |
missense |
probably benign |
0.04 |
R7759:Fscb
|
UTSW |
12 |
64,520,866 (GRCm39) |
missense |
probably benign |
0.03 |
R7930:Fscb
|
UTSW |
12 |
64,519,337 (GRCm39) |
missense |
unknown |
|
R8026:Fscb
|
UTSW |
12 |
64,521,049 (GRCm39) |
missense |
probably benign |
0.12 |
R8070:Fscb
|
UTSW |
12 |
64,521,382 (GRCm39) |
missense |
probably benign |
0.04 |
R8081:Fscb
|
UTSW |
12 |
64,518,802 (GRCm39) |
missense |
unknown |
|
R8331:Fscb
|
UTSW |
12 |
64,520,242 (GRCm39) |
missense |
probably benign |
0.07 |
R8405:Fscb
|
UTSW |
12 |
64,520,278 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8788:Fscb
|
UTSW |
12 |
64,518,395 (GRCm39) |
missense |
unknown |
|
R8833:Fscb
|
UTSW |
12 |
64,519,997 (GRCm39) |
missense |
unknown |
|
R8997:Fscb
|
UTSW |
12 |
64,520,758 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9192:Fscb
|
UTSW |
12 |
64,520,890 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9282:Fscb
|
UTSW |
12 |
64,520,097 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9437:Fscb
|
UTSW |
12 |
64,519,708 (GRCm39) |
missense |
unknown |
|
R9581:Fscb
|
UTSW |
12 |
64,521,122 (GRCm39) |
missense |
probably benign |
0.16 |
RF011:Fscb
|
UTSW |
12 |
64,519,768 (GRCm39) |
small deletion |
probably benign |
|
RF019:Fscb
|
UTSW |
12 |
64,519,370 (GRCm39) |
small insertion |
probably benign |
|
RF038:Fscb
|
UTSW |
12 |
64,519,343 (GRCm39) |
small insertion |
probably benign |
|
Z1176:Fscb
|
UTSW |
12 |
64,519,704 (GRCm39) |
missense |
unknown |
|
Z1177:Fscb
|
UTSW |
12 |
64,519,402 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2016-08-02 |