Incidental Mutation 'R2164:Fscb'
| ID |
235373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fscb
|
| Ensembl Gene |
ENSMUSG00000043060 |
| Gene Name |
fibrous sheath CABYR binding protein |
| Synonyms |
EG623046 |
| MMRRC Submission |
040167-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R2164 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
64518104-64521464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 64520567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 300
(P300S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059833]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059833
AA Change: P300S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: P300S
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
CTGTAGGAAATCTTCAATGT |
CTGT |
11: 110,101,019 (GRCm39) |
|
probably null |
Het |
| Adcy8 |
C |
T |
15: 64,792,783 (GRCm39) |
G58S |
probably benign |
Het |
| Adgra2 |
T |
A |
8: 27,604,232 (GRCm39) |
L24* |
probably null |
Het |
| Ampd2 |
C |
A |
3: 107,992,685 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
T |
G |
6: 118,502,752 (GRCm39) |
E806A |
probably damaging |
Het |
| Apol9b |
A |
G |
15: 77,619,639 (GRCm39) |
D145G |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,892,726 (GRCm39) |
M1535K |
probably benign |
Het |
| Atf6 |
A |
G |
1: 170,622,304 (GRCm39) |
M439T |
probably damaging |
Het |
| B3glct |
A |
T |
5: 149,677,621 (GRCm39) |
M417L |
probably damaging |
Het |
| Cep192 |
A |
T |
18: 67,953,431 (GRCm39) |
T483S |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,354,657 (GRCm39) |
E914K |
probably damaging |
Het |
| Chst15 |
C |
T |
7: 131,872,114 (GRCm39) |
A56T |
probably damaging |
Het |
| Col27a1 |
A |
T |
4: 63,143,661 (GRCm39) |
T450S |
probably benign |
Het |
| Cpsf2 |
A |
G |
12: 101,951,594 (GRCm39) |
N177S |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Ctc1 |
C |
T |
11: 68,926,441 (GRCm39) |
A859V |
possibly damaging |
Het |
| Dcakd |
A |
G |
11: 102,888,183 (GRCm39) |
Y134H |
possibly damaging |
Het |
| Dctn3 |
G |
T |
4: 41,723,065 (GRCm39) |
Y22* |
probably null |
Het |
| Dync2h1 |
T |
A |
9: 7,124,797 (GRCm39) |
D2025V |
probably damaging |
Het |
| Dync2li1 |
T |
C |
17: 84,943,702 (GRCm39) |
S92P |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,853,356 (GRCm39) |
V81A |
probably damaging |
Het |
| Espl1 |
C |
T |
15: 102,228,023 (GRCm39) |
R1625C |
probably damaging |
Het |
| Fam181a |
T |
C |
12: 103,282,785 (GRCm39) |
V230A |
probably benign |
Het |
| Fanci |
T |
A |
7: 79,045,743 (GRCm39) |
D28E |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,195,962 (GRCm39) |
N554S |
unknown |
Het |
| Frem2 |
T |
C |
3: 53,444,751 (GRCm39) |
Y2460C |
probably damaging |
Het |
| Gm28042 |
A |
G |
2: 119,867,229 (GRCm39) |
D438G |
probably benign |
Het |
| Ldaf1 |
A |
G |
7: 119,719,462 (GRCm39) |
E157G |
possibly damaging |
Het |
| Map1b |
C |
T |
13: 99,565,846 (GRCm39) |
V2292M |
unknown |
Het |
| Nbas |
A |
G |
12: 13,380,647 (GRCm39) |
D635G |
possibly damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,414,095 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
T |
1: 62,783,514 (GRCm39) |
E205V |
probably damaging |
Het |
| Pcdhb3 |
A |
T |
18: 37,435,239 (GRCm39) |
T402S |
possibly damaging |
Het |
| Phc1 |
T |
C |
6: 122,299,296 (GRCm39) |
N638D |
possibly damaging |
Het |
| Plcb1 |
A |
G |
2: 135,188,250 (GRCm39) |
N781S |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,523,071 (GRCm39) |
D1164E |
probably damaging |
Het |
| Proser2 |
T |
A |
2: 6,105,506 (GRCm39) |
R353W |
possibly damaging |
Het |
| Prxl2b |
T |
G |
4: 154,982,606 (GRCm39) |
Y56S |
probably damaging |
Het |
| Ptges |
T |
A |
2: 30,782,708 (GRCm39) |
T115S |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,436,138 (GRCm39) |
D833V |
probably damaging |
Het |
| Pum1 |
T |
A |
4: 130,455,394 (GRCm39) |
L173* |
probably null |
Het |
| Pum1 |
G |
T |
4: 130,455,395 (GRCm39) |
L269F |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,838,470 (GRCm39) |
Y106C |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,598,697 (GRCm39) |
|
probably benign |
Het |
| Rdh1 |
A |
G |
10: 127,596,041 (GRCm39) |
T79A |
possibly damaging |
Het |
| Relb |
A |
C |
7: 19,347,686 (GRCm39) |
|
probably null |
Het |
| Rnf122 |
G |
A |
8: 31,602,192 (GRCm39) |
W6* |
probably null |
Het |
| Rnf31 |
A |
G |
14: 55,829,994 (GRCm39) |
E138G |
possibly damaging |
Het |
| Scaf8 |
G |
A |
17: 3,247,485 (GRCm39) |
R936Q |
probably damaging |
Het |
| Scube3 |
T |
A |
17: 28,385,108 (GRCm39) |
V686D |
possibly damaging |
Het |
| Snrnp27 |
A |
T |
6: 86,653,196 (GRCm39) |
C141S |
probably benign |
Het |
| Spns2 |
C |
T |
11: 72,349,497 (GRCm39) |
V252M |
possibly damaging |
Het |
| Tomm40l |
C |
T |
1: 171,047,703 (GRCm39) |
S220N |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,237 (GRCm39) |
D423G |
probably damaging |
Het |
| Trpc6 |
A |
AT |
9: 8,610,466 (GRCm39) |
|
probably null |
Het |
| Tut4 |
G |
A |
4: 108,360,226 (GRCm39) |
R481Q |
possibly damaging |
Het |
| Uba5 |
A |
T |
9: 103,937,442 (GRCm39) |
M89K |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,163,718 (GRCm39) |
D628G |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,904 (GRCm39) |
L819P |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,816,518 (GRCm39) |
D354E |
possibly damaging |
Het |
| Xrn1 |
A |
G |
9: 95,888,873 (GRCm39) |
E984G |
possibly damaging |
Het |
| Zbtb17 |
T |
C |
4: 141,191,557 (GRCm39) |
V223A |
probably benign |
Het |
| Zfp592 |
T |
C |
7: 80,691,186 (GRCm39) |
S1122P |
possibly 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 |
|
|
R1984:Fscb
|
UTSW |
12 |
64,521,457 (GRCm39) |
missense |
unknown |
|
|
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'- GTCTTCAAGCATAGAGTCAGTTG -3'
(R):5'- CATGATGTCTTTCACTGAAGGGG -3'
Sequencing Primer
(F):5'- CAAGCATAGAGTCAGTTGTTAAAGC -3'
(R):5'- GAGATTTCTGGTGAATTACAGGCTC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation