Incidental Mutation 'R9581:Fscb'
ID |
722551 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fscb
|
Ensembl Gene |
ENSMUSG00000043060 |
Gene Name |
fibrous sheath CABYR binding protein |
Synonyms |
EG623046 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R9581 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
64518104-64521464 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 64521122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 115
(I115F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051554
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059833]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059833
AA Change: I115F
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000051554 Gene: ENSMUSG00000043060 AA Change: I115F
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
G |
5: 8,790,428 (GRCm39) |
I1097R |
possibly damaging |
Het |
Abcd4 |
A |
G |
12: 84,650,762 (GRCm39) |
S533P |
probably damaging |
Het |
Adat1 |
C |
T |
8: 112,705,946 (GRCm39) |
V387I |
probably benign |
Het |
Aff3 |
T |
A |
1: 38,249,266 (GRCm39) |
T614S |
probably benign |
Het |
Aldh1a1 |
T |
A |
19: 20,597,417 (GRCm39) |
C133S |
probably benign |
Het |
Ankrd12 |
A |
G |
17: 66,290,415 (GRCm39) |
S1673P |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,370,055 (GRCm39) |
|
probably null |
Het |
Arsi |
A |
G |
18: 61,050,160 (GRCm39) |
T348A |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,799,300 (GRCm39) |
R275G |
probably benign |
Het |
Cdh2 |
T |
A |
18: 16,803,112 (GRCm39) |
|
probably benign |
Het |
Cela1 |
C |
T |
15: 100,573,261 (GRCm39) |
A243T |
probably benign |
Het |
Cep192 |
G |
T |
18: 67,980,465 (GRCm39) |
V1409F |
probably damaging |
Het |
Chia1 |
T |
C |
3: 106,035,879 (GRCm39) |
Y240H |
possibly damaging |
Het |
Dact1 |
A |
T |
12: 71,365,619 (GRCm39) |
K763M |
probably damaging |
Het |
Dip2b |
C |
A |
15: 100,079,255 (GRCm39) |
N822K |
probably damaging |
Het |
Dnah12 |
C |
T |
14: 26,491,985 (GRCm39) |
T1140I |
probably damaging |
Het |
Drc7 |
T |
C |
8: 95,785,782 (GRCm39) |
S213P |
probably damaging |
Het |
Ell2 |
A |
G |
13: 75,912,148 (GRCm39) |
D478G |
probably benign |
Het |
Evpl |
G |
A |
11: 116,120,660 (GRCm39) |
T483M |
probably benign |
Het |
Farp1 |
A |
T |
14: 121,480,841 (GRCm39) |
E414V |
probably benign |
Het |
Fbxl17 |
A |
G |
17: 63,806,525 (GRCm39) |
V163A |
probably benign |
Het |
Foxn3 |
C |
T |
12: 99,163,035 (GRCm39) |
E289K |
probably damaging |
Het |
Gm14496 |
A |
T |
2: 181,642,047 (GRCm39) |
T573S |
probably benign |
Het |
Golga1 |
G |
T |
2: 38,909,573 (GRCm39) |
D677E |
probably damaging |
Het |
Herc6 |
A |
T |
6: 57,635,101 (GRCm39) |
K772N |
probably damaging |
Het |
Ikbkb |
T |
C |
8: 23,155,575 (GRCm39) |
D639G |
probably damaging |
Het |
Lrrc61 |
G |
A |
6: 48,545,653 (GRCm39) |
V159I |
possibly damaging |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Mib1 |
A |
G |
18: 10,775,701 (GRCm39) |
D551G |
possibly damaging |
Het |
Muc5ac |
G |
T |
7: 141,363,799 (GRCm39) |
R2370L |
unknown |
Het |
Mybpc3 |
A |
G |
2: 90,949,616 (GRCm39) |
D53G |
probably benign |
Het |
Myo9b |
C |
T |
8: 71,812,543 (GRCm39) |
P2105S |
probably benign |
Het |
Naip5 |
G |
T |
13: 100,351,194 (GRCm39) |
H1271Q |
probably benign |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nmt2 |
T |
C |
2: 3,317,212 (GRCm39) |
V340A |
possibly damaging |
Het |
Nos1 |
A |
G |
5: 118,043,459 (GRCm39) |
E578G |
probably damaging |
Het |
Nox3 |
G |
A |
17: 3,700,328 (GRCm39) |
R462W |
possibly damaging |
Het |
Or10h28 |
C |
A |
17: 33,487,995 (GRCm39) |
A99D |
probably damaging |
Het |
Or52a20 |
A |
G |
7: 103,365,788 (GRCm39) |
|
probably benign |
Het |
Pcdhgc4 |
A |
G |
18: 37,950,189 (GRCm39) |
Q535R |
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,432,196 (GRCm39) |
D1473G |
probably benign |
Het |
Pdilt |
A |
T |
7: 119,099,633 (GRCm39) |
F212I |
probably damaging |
Het |
Ptk2b |
A |
T |
14: 66,450,789 (GRCm39) |
V59D |
probably damaging |
Het |
Ptprf |
T |
C |
4: 118,092,257 (GRCm39) |
D571G |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,547,771 (GRCm39) |
V209E |
possibly damaging |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
Schip1 |
TCTGGCC |
TC |
3: 68,525,060 (GRCm39) |
|
probably null |
Het |
Sec16a |
C |
T |
2: 26,328,647 (GRCm39) |
V142I |
|
Het |
Slamf6 |
A |
G |
1: 171,761,897 (GRCm39) |
Y106C |
|
Het |
Strc |
A |
G |
2: 121,207,928 (GRCm39) |
V481A |
probably damaging |
Het |
Sulf1 |
A |
T |
1: 12,875,478 (GRCm39) |
I163F |
possibly damaging |
Het |
Tjp1 |
A |
G |
7: 64,949,472 (GRCm39) |
S1637P |
probably damaging |
Het |
Tlr9 |
A |
G |
9: 106,101,510 (GRCm39) |
E267G |
probably damaging |
Het |
Tmem117 |
T |
A |
15: 94,992,268 (GRCm39) |
F309L |
probably benign |
Het |
Tmtc4 |
T |
C |
14: 123,187,998 (GRCm39) |
N196S |
probably benign |
Het |
Trim16 |
T |
A |
11: 62,727,557 (GRCm39) |
I293K |
probably damaging |
Het |
Trim7 |
T |
C |
11: 48,738,887 (GRCm39) |
V95A |
probably damaging |
Het |
Ttll6 |
A |
T |
11: 96,049,572 (GRCm39) |
K763N |
probably benign |
Het |
Tut1 |
T |
C |
19: 8,941,981 (GRCm39) |
S483P |
probably benign |
Het |
Zfp101 |
A |
T |
17: 33,605,730 (GRCm39) |
L26* |
probably null |
Het |
Zfp106 |
C |
T |
2: 120,365,807 (GRCm39) |
R155K |
|
Het |
Zfp518a |
T |
A |
19: 40,900,156 (GRCm39) |
D28E |
probably damaging |
Het |
Zfp90 |
T |
A |
8: 107,151,714 (GRCm39) |
S476T |
probably benign |
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 |
|
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 |
|
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'- GTATATCAGGCTCCAGTCACC -3'
(R):5'- GGTAGATAAGTCCCAGCAAACTG -3'
Sequencing Primer
(F):5'- GTATATCAGGCTCCAGTCACCAGTAC -3'
(R):5'- GCCCCTAAAGCTACTCATAGTATTGG -3'
|
Posted On |
2022-08-09 |