Incidental Mutation 'R8997:Fscb'
| ID |
684784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fscb
|
| Ensembl Gene |
ENSMUSG00000043060 |
| Gene Name |
fibrous sheath CABYR binding protein |
| Synonyms |
EG623046 |
| MMRRC Submission |
068828-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R8997 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
64518104-64521464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64520758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 236
(V236A)
|
| 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: V236A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: V236A
| 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 |
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.1%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
G |
T |
1: 11,615,491 (GRCm39) |
E155* |
probably null |
Het |
| Abhd17a |
T |
C |
10: 80,422,470 (GRCm39) |
T71A |
probably benign |
Het |
| Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
| Adra2a |
T |
C |
19: 54,035,729 (GRCm39) |
S362P |
probably benign |
Het |
| Arid1a |
T |
A |
4: 133,421,343 (GRCm39) |
N436Y |
unknown |
Het |
| Cma2 |
T |
A |
14: 56,210,201 (GRCm39) |
C85S |
probably benign |
Het |
| Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,181,023 (GRCm39) |
V724A |
probably damaging |
Het |
| Dennd1a |
C |
T |
2: 37,690,497 (GRCm39) |
G868R |
probably benign |
Het |
| Disp2 |
C |
T |
2: 118,617,467 (GRCm39) |
P154S |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,823,528 (GRCm39) |
D171G |
possibly damaging |
Het |
| Dpp4 |
A |
C |
2: 62,164,958 (GRCm39) |
I697S |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,129,003 (GRCm39) |
D1837E |
probably benign |
Het |
| Fbxo39 |
T |
A |
11: 72,208,466 (GRCm39) |
S273T |
probably damaging |
Het |
| Fgf5 |
A |
T |
5: 98,423,411 (GRCm39) |
*265C |
probably null |
Het |
| Greb1l |
A |
T |
18: 10,510,747 (GRCm39) |
T614S |
probably damaging |
Het |
| Gtdc1 |
A |
T |
2: 44,715,386 (GRCm39) |
N52K |
probably benign |
Het |
| Il6ra |
T |
C |
3: 89,794,418 (GRCm39) |
D181G |
probably damaging |
Het |
| Inhba |
T |
G |
13: 16,201,107 (GRCm39) |
V223G |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,513,037 (GRCm39) |
|
probably benign |
Het |
| Kdm2b |
C |
A |
5: 123,018,236 (GRCm39) |
W1068L |
probably null |
Het |
| Mdn1 |
T |
C |
4: 32,773,275 (GRCm39) |
L5485P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,518,763 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,959,577 (GRCm39) |
F338L |
probably damaging |
Het |
| Negr1 |
T |
A |
3: 156,721,918 (GRCm39) |
I164N |
probably damaging |
Het |
| Nek9 |
A |
T |
12: 85,367,565 (GRCm39) |
C369S |
probably benign |
Het |
| Ninl |
C |
T |
2: 150,801,816 (GRCm39) |
E151K |
probably damaging |
Het |
| Nphp1 |
A |
T |
2: 127,595,982 (GRCm39) |
S494R |
possibly damaging |
Het |
| Nphp4 |
G |
A |
4: 152,623,345 (GRCm39) |
R673H |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,934,629 (GRCm39) |
|
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,091,575 (GRCm39) |
S82P |
probably benign |
Het |
| Pcdhgb1 |
C |
A |
18: 37,814,133 (GRCm39) |
P208Q |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 133,018,517 (GRCm39) |
E988G |
possibly damaging |
Het |
| Rfc1 |
A |
T |
5: 65,433,064 (GRCm39) |
M722K |
probably damaging |
Het |
| Rnf111 |
A |
T |
9: 70,383,545 (GRCm39) |
N129K |
probably damaging |
Het |
| Sdccag8 |
C |
A |
1: 176,783,374 (GRCm39) |
L628I |
probably damaging |
Het |
| Sgcz |
G |
T |
8: 39,127,894 (GRCm39) |
D8E |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,790,781 (GRCm39) |
F254L |
|
Het |
| Shf |
A |
G |
2: 122,187,728 (GRCm39) |
L26P |
probably damaging |
Het |
| Slc39a5 |
G |
A |
10: 128,232,348 (GRCm39) |
A484V |
probably damaging |
Het |
| Slco4c1 |
T |
A |
1: 96,795,672 (GRCm39) |
I129F |
probably damaging |
Het |
| Tbck |
A |
T |
3: 132,440,106 (GRCm39) |
|
probably null |
Het |
| Tcstv7b |
A |
T |
13: 120,702,515 (GRCm39) |
M104L |
probably benign |
Het |
| Teddm3 |
A |
T |
16: 20,971,687 (GRCm39) |
V294E |
probably damaging |
Het |
| Tent4b |
T |
A |
8: 88,979,023 (GRCm39) |
V508D |
probably benign |
Het |
| Treml1 |
A |
T |
17: 48,667,466 (GRCm39) |
H117L |
probably damaging |
Het |
| Trip12 |
G |
T |
1: 84,771,596 (GRCm39) |
T184N |
probably benign |
Het |
| Tuba3b |
G |
T |
6: 145,566,954 (GRCm39) |
M398I |
possibly damaging |
Het |
| Vcam1 |
T |
C |
3: 115,910,977 (GRCm39) |
I474V |
probably benign |
Het |
| Wdsub1 |
A |
C |
2: 59,688,977 (GRCm39) |
M415R |
probably damaging |
Het |
| Zfp14 |
A |
T |
7: 29,737,600 (GRCm39) |
F462I |
probably damaging |
Het |
| Zfp846 |
G |
A |
9: 20,505,726 (GRCm39) |
V529I |
probably benign |
Het |
| Zfp873 |
A |
G |
10: 81,896,990 (GRCm39) |
T574A |
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 |
|
|
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'- AGCCTGTATATCCACAACGTC -3'
(R):5'- CTGGAGCCTGATATACATTTGCC -3'
Sequencing Primer
(F):5'- CACAACGTCTTTTGCAGTTGTAG -3'
(R):5'- GAGCCTGATATACATTTGCCCAAAAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation