Incidental Mutation 'IGL01394:Fscb'
| ID |
79344 |
| 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 # |
IGL01394
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
64518104-64521464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64520578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 296
(I296K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059833]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059833
AA Change: I296K
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: I296K
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
G |
A |
7: 130,747,960 (GRCm39) |
Q11* |
probably null |
Het |
| Acot5 |
T |
C |
12: 84,122,262 (GRCm39) |
I282T |
probably benign |
Het |
| Adcy2 |
A |
G |
13: 69,130,521 (GRCm39) |
V122A |
probably damaging |
Het |
| Aldh16a1 |
A |
C |
7: 44,794,937 (GRCm39) |
S511A |
probably benign |
Het |
| Arid3b |
T |
C |
9: 57,702,317 (GRCm39) |
E480G |
probably damaging |
Het |
| Baz2a |
T |
C |
10: 127,954,514 (GRCm39) |
V723A |
possibly damaging |
Het |
| Bmpr1b |
A |
G |
3: 141,568,742 (GRCm39) |
|
probably null |
Het |
| Ccdc83 |
T |
C |
7: 89,873,209 (GRCm39) |
E382G |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,246,895 (GRCm39) |
Y349H |
probably damaging |
Het |
| Clpx |
T |
C |
9: 65,217,495 (GRCm39) |
V21A |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,719,239 (GRCm39) |
N356S |
possibly damaging |
Het |
| Ctnnd1 |
A |
G |
2: 84,435,600 (GRCm39) |
|
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,367,945 (GRCm39) |
N505S |
probably benign |
Het |
| Eaf2 |
G |
A |
16: 36,630,928 (GRCm39) |
P82S |
probably damaging |
Het |
| Fbxw26 |
T |
C |
9: 109,547,057 (GRCm39) |
Y456C |
probably benign |
Het |
| Foxred2 |
T |
C |
15: 77,839,820 (GRCm39) |
T157A |
probably benign |
Het |
| Gad1-ps |
A |
G |
10: 99,281,424 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
G |
16: 36,751,926 (GRCm39) |
E3120G |
probably damaging |
Het |
| Ift140 |
A |
G |
17: 25,313,676 (GRCm39) |
D1369G |
probably benign |
Het |
| Kcnk13 |
T |
C |
12: 100,027,921 (GRCm39) |
V332A |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,664,983 (GRCm39) |
D661E |
probably null |
Het |
| Lum |
A |
T |
10: 97,404,834 (GRCm39) |
D243V |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,220,975 (GRCm39) |
T86A |
possibly damaging |
Het |
| Mpdz |
A |
T |
4: 81,210,728 (GRCm39) |
V1706D |
possibly damaging |
Het |
| Myrfl |
T |
C |
10: 116,658,592 (GRCm39) |
Q455R |
probably benign |
Het |
| Or6k2 |
T |
C |
1: 173,986,423 (GRCm39) |
F28S |
probably damaging |
Het |
| Or8c20 |
T |
A |
9: 38,261,101 (GRCm39) |
S241T |
possibly damaging |
Het |
| Papolg |
G |
A |
11: 23,817,235 (GRCm39) |
T654I |
probably benign |
Het |
| Pappa2 |
G |
A |
1: 158,592,674 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
C |
T |
17: 84,864,858 (GRCm39) |
T82I |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,372,080 (GRCm39) |
V1773A |
probably benign |
Het |
| Psmb8 |
G |
T |
17: 34,419,703 (GRCm39) |
V186L |
probably damaging |
Het |
| Rin3 |
T |
C |
12: 102,339,862 (GRCm39) |
V604A |
probably damaging |
Het |
| Rtn1 |
T |
C |
12: 72,355,190 (GRCm39) |
D252G |
probably benign |
Het |
| Sdk1 |
C |
T |
5: 141,598,970 (GRCm39) |
H212Y |
probably benign |
Het |
| Slc5a5 |
G |
T |
8: 71,342,032 (GRCm39) |
Y307* |
probably null |
Het |
| Slc9a9 |
T |
A |
9: 95,005,090 (GRCm39) |
L499Q |
probably benign |
Het |
| Snx8 |
C |
A |
5: 140,337,934 (GRCm39) |
G237V |
probably benign |
Het |
| Spata18 |
T |
A |
5: 73,836,688 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,536,808 (GRCm39) |
E417G |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,009,875 (GRCm39) |
D1034G |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 6,045,024 (GRCm39) |
|
probably null |
Het |
| Xrcc6 |
A |
G |
15: 81,909,862 (GRCm39) |
K89R |
possibly damaging |
Het |
| Yeats2 |
T |
C |
16: 19,980,782 (GRCm39) |
V237A |
probably damaging |
Het |
| Zdhhc6 |
A |
G |
19: 55,298,324 (GRCm39) |
W178R |
probably benign |
Het |
| Zfp280b |
C |
A |
10: 75,875,497 (GRCm39) |
Q459K |
probably damaging |
Het |
| Zfp811 |
C |
A |
17: 33,016,794 (GRCm39) |
K414N |
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 |
|
|
IGL02570:Fscb
|
APN |
12 |
64,518,952 (GRCm39) |
missense |
unknown |
|
|
IGL02974:Fscb
|
APN |
12 |
64,518,299 (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 |
2013-11-05 |
Incidental Mutation