Incidental Mutation 'R1984:Fscb'
ID |
220364 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fscb
|
Ensembl Gene |
ENSMUSG00000043060 |
Gene Name |
fibrous sheath CABYR binding protein |
Synonyms |
EG623046 |
MMRRC Submission |
039996-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R1984 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
64518104-64521464 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64521457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 3
(E3G)
|
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: E3G
|
SMART Domains |
Protein: ENSMUSP00000051554 Gene: ENSMUSG00000043060 AA Change: E3G
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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
A |
T |
6: 124,324,778 (GRCm39) |
L81H |
probably damaging |
Het |
Abca8b |
A |
G |
11: 109,868,667 (GRCm39) |
C166R |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,671,868 (GRCm39) |
E2242D |
probably damaging |
Het |
Agap1 |
T |
C |
1: 89,694,045 (GRCm39) |
S448P |
probably benign |
Het |
Aldh1a2 |
T |
C |
9: 71,160,334 (GRCm39) |
L120P |
probably damaging |
Het |
Alkbh2 |
T |
C |
5: 114,262,115 (GRCm39) |
N205S |
probably benign |
Het |
Anapc1 |
C |
A |
2: 128,511,608 (GRCm39) |
G493C |
possibly damaging |
Het |
Aox3 |
A |
T |
1: 58,192,220 (GRCm39) |
I497F |
possibly damaging |
Het |
Atp2b1 |
T |
C |
10: 98,850,354 (GRCm39) |
S826P |
possibly damaging |
Het |
Atp8b4 |
T |
A |
2: 126,164,928 (GRCm39) |
R1129S |
probably damaging |
Het |
Bche |
T |
A |
3: 73,609,159 (GRCm39) |
Q89L |
probably benign |
Het |
Bche |
G |
T |
3: 73,609,160 (GRCm39) |
Q89K |
probably benign |
Het |
Bcl9 |
T |
C |
3: 97,121,050 (GRCm39) |
K171E |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,538,998 (GRCm39) |
Y1488N |
probably damaging |
Het |
Dock8 |
A |
G |
19: 25,098,545 (GRCm39) |
N623S |
probably null |
Het |
Dok6 |
T |
C |
18: 89,578,234 (GRCm39) |
E61G |
probably damaging |
Het |
Duxf4 |
T |
A |
10: 58,071,785 (GRCm39) |
Q143L |
possibly damaging |
Het |
Esf1 |
A |
T |
2: 139,990,806 (GRCm39) |
D559E |
possibly damaging |
Het |
F11r |
A |
G |
1: 171,289,438 (GRCm39) |
I254V |
probably benign |
Het |
Fkrp |
A |
G |
7: 16,545,802 (GRCm39) |
V20A |
probably benign |
Het |
Hdlbp |
A |
G |
1: 93,358,840 (GRCm39) |
I237T |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 107,046,442 (GRCm39) |
D481E |
probably damaging |
Het |
Hspa4l |
T |
C |
3: 40,714,833 (GRCm39) |
V156A |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,889,782 (GRCm39) |
S2422P |
probably benign |
Het |
Il23r |
T |
A |
6: 67,467,652 (GRCm39) |
|
probably null |
Het |
Il24 |
G |
A |
1: 130,810,268 (GRCm39) |
T196I |
probably benign |
Het |
Isg15 |
T |
C |
4: 156,284,250 (GRCm39) |
I93V |
probably benign |
Het |
Kcna6 |
T |
C |
6: 126,715,473 (GRCm39) |
E472G |
probably benign |
Het |
Kif21b |
G |
A |
1: 136,075,284 (GRCm39) |
D166N |
probably damaging |
Het |
Lilrb4b |
A |
T |
10: 51,357,831 (GRCm39) |
Q80L |
possibly damaging |
Het |
Lrrc69 |
T |
C |
4: 14,708,669 (GRCm39) |
E225G |
possibly damaging |
Het |
Marchf6 |
A |
T |
15: 31,469,792 (GRCm39) |
L726Q |
probably damaging |
Het |
Megf6 |
G |
T |
4: 154,352,124 (GRCm39) |
G1210C |
probably damaging |
Het |
Msh2 |
C |
T |
17: 88,026,724 (GRCm39) |
T740I |
probably damaging |
Het |
Myh14 |
T |
C |
7: 44,288,446 (GRCm39) |
Y514C |
probably damaging |
Het |
Myorg |
C |
A |
4: 41,497,501 (GRCm39) |
A710S |
possibly damaging |
Het |
Nedd1 |
T |
C |
10: 92,550,022 (GRCm39) |
T88A |
possibly damaging |
Het |
Nfkb1 |
G |
A |
3: 135,321,110 (GRCm39) |
T215I |
possibly damaging |
Het |
Obox1 |
A |
T |
7: 15,289,135 (GRCm39) |
I17L |
probably benign |
Het |
Or11g24 |
A |
T |
14: 50,662,848 (GRCm39) |
I291L |
possibly damaging |
Het |
Palb2 |
A |
C |
7: 121,726,303 (GRCm39) |
H522Q |
probably damaging |
Het |
Pde4c |
C |
T |
8: 71,177,191 (GRCm39) |
T6M |
probably damaging |
Het |
Plekhg1 |
A |
G |
10: 3,908,181 (GRCm39) |
K97E |
probably damaging |
Het |
Plod3 |
A |
G |
5: 137,019,707 (GRCm39) |
|
probably null |
Het |
Plppr3 |
A |
T |
10: 79,703,294 (GRCm39) |
Y63* |
probably null |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Qrich1 |
T |
C |
9: 108,411,246 (GRCm39) |
V257A |
probably damaging |
Het |
Rpl14 |
A |
G |
9: 120,401,253 (GRCm39) |
D32G |
possibly damaging |
Het |
Senp8 |
A |
G |
9: 59,644,721 (GRCm39) |
V132A |
possibly damaging |
Het |
Serac1 |
A |
G |
17: 6,095,964 (GRCm39) |
|
probably null |
Het |
Sh2d3c |
T |
A |
2: 32,639,256 (GRCm39) |
C295* |
probably null |
Het |
Stab1 |
A |
G |
14: 30,872,605 (GRCm39) |
F1142L |
probably benign |
Het |
Stam2 |
T |
C |
2: 52,599,638 (GRCm39) |
T257A |
possibly damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tg |
A |
G |
15: 66,554,691 (GRCm39) |
E702G |
probably benign |
Het |
Tgif2lx2 |
A |
T |
X: 117,337,690 (GRCm39) |
K218* |
probably null |
Het |
Tpp1 |
C |
A |
7: 105,400,905 (GRCm39) |
V41L |
probably benign |
Het |
Tulp3 |
A |
T |
6: 128,303,769 (GRCm39) |
S277T |
probably benign |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp683 |
T |
C |
4: 133,784,766 (GRCm39) |
F338L |
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 |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGCCTAAGAGACTCATATTCTTTTCG -3'
(R):5'- GGATCCAACAGGAGTGTAGTC -3'
Sequencing Primer
(F):5'- CGAGAGTAGTTGTCTTTACTTCCAG -3'
(R):5'- GAGTGTAGTCAAGGATGGTATAATTC -3'
|
Posted On |
2014-08-25 |