Incidental Mutation 'R8833:Fscb'
| ID |
673990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fscb
|
| Ensembl Gene |
ENSMUSG00000043060 |
| Gene Name |
fibrous sheath CABYR binding protein |
| Synonyms |
EG623046 |
| MMRRC Submission |
068661-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8833 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
64518104-64521464 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64519997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 490
(T490S)
|
| 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: T490S
|
| SMART Domains |
Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: T490S
| 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: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
T |
A |
13: 4,496,377 (GRCm39) |
D132E |
possibly damaging |
Het |
| Armh4 |
C |
T |
14: 50,011,318 (GRCm39) |
V130I |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,112,986 (GRCm39) |
E844G |
probably damaging |
Het |
| Bbx |
T |
A |
16: 50,045,629 (GRCm39) |
M311L |
probably benign |
Het |
| Bzw2 |
A |
T |
12: 36,169,069 (GRCm39) |
M153K |
probably benign |
Het |
| C1qtnf6 |
G |
T |
15: 78,409,574 (GRCm39) |
T91K |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,535,828 (GRCm39) |
D793G |
possibly damaging |
Het |
| Ces4a |
A |
G |
8: 105,858,614 (GRCm39) |
I11V |
probably benign |
Het |
| Cpne9 |
T |
C |
6: 113,281,473 (GRCm39) |
L518P |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,625,519 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
C |
15: 71,334,783 (GRCm39) |
N804D |
probably benign |
Het |
| Frem3 |
G |
A |
8: 81,339,401 (GRCm39) |
D565N |
probably benign |
Het |
| Fuca1 |
A |
G |
4: 135,648,206 (GRCm39) |
D31G |
probably damaging |
Het |
| Gbp8 |
G |
T |
5: 105,166,668 (GRCm39) |
N220K |
possibly damaging |
Het |
| Gfra2 |
T |
C |
14: 71,163,337 (GRCm39) |
F207L |
probably damaging |
Het |
| Grap2 |
A |
G |
15: 80,522,684 (GRCm39) |
N70S |
probably benign |
Het |
| Ifna13 |
C |
A |
4: 88,562,157 (GRCm39) |
E156* |
probably null |
Het |
| Jmjd1c |
G |
A |
10: 67,054,162 (GRCm39) |
R22H |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,365,134 (GRCm39) |
V3209A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,105 (GRCm39) |
T1684A |
unknown |
Het |
| Naip5 |
T |
A |
13: 100,359,442 (GRCm39) |
E598V |
probably damaging |
Het |
| Niban1 |
T |
A |
1: 151,520,681 (GRCm39) |
V125E |
probably damaging |
Het |
| Notch1 |
G |
A |
2: 26,371,615 (GRCm39) |
T278I |
probably damaging |
Het |
| Or4d10c |
A |
G |
19: 12,065,643 (GRCm39) |
V171A |
possibly damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,823 (GRCm39) |
C169* |
probably null |
Het |
| Or52z13 |
T |
G |
7: 103,247,444 (GRCm39) |
F307C |
possibly damaging |
Het |
| Or5k14 |
A |
T |
16: 58,692,959 (GRCm39) |
Y185N |
probably damaging |
Het |
| Orm1 |
A |
T |
4: 63,262,938 (GRCm39) |
E35V |
probably damaging |
Het |
| Pak1 |
T |
A |
7: 97,503,839 (GRCm39) |
I58N |
possibly damaging |
Het |
| Pard3b |
A |
G |
1: 62,384,158 (GRCm39) |
E841G |
probably benign |
Het |
| Pcdhb9 |
G |
T |
18: 37,534,468 (GRCm39) |
R154I |
probably benign |
Het |
| Pdpr |
G |
A |
8: 111,852,312 (GRCm39) |
V560I |
probably damaging |
Het |
| Pkdcc |
T |
C |
17: 83,531,355 (GRCm39) |
F455L |
probably damaging |
Het |
| Potefam3c |
A |
T |
8: 69,881,982 (GRCm39) |
D331E |
probably benign |
Het |
| Pus7l |
A |
T |
15: 94,438,143 (GRCm39) |
F234Y |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,990,722 (GRCm39) |
L632Q |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,819,015 (GRCm38) |
|
probably benign |
Het |
| Ro60 |
T |
A |
1: 143,641,517 (GRCm39) |
K315* |
probably null |
Het |
| Rom1 |
A |
T |
19: 8,905,471 (GRCm39) |
H236Q |
possibly damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,819,352 (GRCm39) |
S311P |
probably benign |
Het |
| Slc26a1 |
T |
C |
5: 108,820,182 (GRCm39) |
D355G |
probably benign |
Het |
| Slc28a3 |
C |
T |
13: 58,707,077 (GRCm39) |
A574T |
probably damaging |
Het |
| Sox11 |
A |
G |
12: 27,392,313 (GRCm39) |
V32A |
possibly damaging |
Het |
| Spata17 |
T |
C |
1: 186,915,436 (GRCm39) |
Y107C |
probably damaging |
Het |
| Speer1a |
C |
A |
5: 11,394,205 (GRCm39) |
Y104* |
probably null |
Het |
| Stxbp5l |
T |
C |
16: 37,024,814 (GRCm39) |
T595A |
probably benign |
Het |
| Syt11 |
T |
C |
3: 88,655,149 (GRCm39) |
D78G |
probably damaging |
Het |
| Tatdn2 |
T |
G |
6: 113,684,348 (GRCm39) |
I674S |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,383,878 (GRCm39) |
S189R |
probably benign |
Het |
| Tln2 |
C |
A |
9: 67,128,693 (GRCm39) |
E1465D |
possibly damaging |
Het |
| Tor3a |
T |
C |
1: 156,483,373 (GRCm39) |
T350A |
probably benign |
Het |
| Ttr |
T |
G |
18: 20,799,550 (GRCm39) |
V36G |
probably damaging |
Het |
| Vmn1r129 |
A |
T |
7: 21,095,205 (GRCm39) |
H4Q |
probably null |
Het |
| Vmn1r32 |
A |
G |
6: 66,530,623 (GRCm39) |
M51T |
possibly damaging |
Het |
| Zfp141 |
T |
C |
7: 42,125,687 (GRCm39) |
T262A |
possibly damaging |
Het |
| Zfp980 |
T |
A |
4: 145,427,596 (GRCm39) |
N108K |
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 |
|
|
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'- CAAGTGGAACTTCTGCAGGC -3'
(R):5'- CCAATAATTGAGGAAGTCTCTGCAG -3'
Sequencing Primer
(F):5'- AGGCCCCTCTTCAGTTAGTGTAG -3'
(R):5'- TCTGCAGATAAGGCTACTGC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation