Incidental Mutation 'R8026:Fscb'
| ID |
617729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fscb
|
| Ensembl Gene |
ENSMUSG00000043060 |
| Gene Name |
fibrous sheath CABYR binding protein |
| Synonyms |
EG623046 |
| MMRRC Submission |
067465-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8026 (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 64521049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 139
(I139T)
|
| 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: I139T
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: I139T
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
C |
5: 24,611,723 (GRCm39) |
V513A |
probably damaging |
Het |
| Acsf2 |
C |
T |
11: 94,453,714 (GRCm39) |
V416M |
probably damaging |
Het |
| Adrm1 |
G |
A |
2: 179,817,002 (GRCm39) |
A225T |
unknown |
Het |
| Aldh9a1 |
T |
C |
1: 167,180,236 (GRCm39) |
|
probably null |
Het |
| Apbb2 |
T |
C |
5: 66,608,987 (GRCm39) |
D220G |
probably benign |
Het |
| Bace2 |
T |
C |
16: 97,238,052 (GRCm39) |
V501A |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,828,214 (GRCm39) |
N1170S |
probably benign |
Het |
| Casr |
A |
G |
16: 36,315,979 (GRCm39) |
V697A |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,284,595 (GRCm39) |
|
probably null |
Het |
| Cobl |
T |
C |
11: 12,203,459 (GRCm39) |
K1081R |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,633,099 (GRCm39) |
L116I |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,780,312 (GRCm39) |
F616S |
probably damaging |
Het |
| Dynlt1a |
C |
T |
17: 6,362,089 (GRCm39) |
G30S |
possibly damaging |
Het |
| Eif1 |
T |
C |
11: 100,211,274 (GRCm39) |
S23P |
possibly damaging |
Het |
| Eml6 |
A |
C |
11: 29,699,973 (GRCm39) |
L1721R |
possibly damaging |
Het |
| Fstl4 |
A |
G |
11: 52,959,496 (GRCm39) |
E179G |
probably damaging |
Het |
| Fuom |
T |
C |
7: 139,680,067 (GRCm39) |
T95A |
|
Het |
| Gigyf1 |
C |
T |
5: 137,523,740 (GRCm39) |
H1001Y |
probably damaging |
Het |
| Gm21886 |
T |
A |
18: 80,132,961 (GRCm39) |
S66C |
probably damaging |
Het |
| Helz2 |
G |
A |
2: 180,881,998 (GRCm39) |
T265I |
probably benign |
Het |
| Hs6st3 |
G |
T |
14: 120,106,968 (GRCm39) |
V459F |
probably damaging |
Het |
| Ido2 |
A |
G |
8: 25,025,156 (GRCm39) |
|
probably null |
Het |
| Idua |
A |
G |
5: 108,818,115 (GRCm39) |
I96V |
probably benign |
Het |
| Iftap |
A |
T |
2: 101,400,989 (GRCm39) |
|
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,445,171 (GRCm39) |
S494P |
|
Het |
| Krt19 |
A |
G |
11: 100,032,209 (GRCm39) |
V285A |
probably damaging |
Het |
| Krt71 |
T |
G |
15: 101,646,817 (GRCm39) |
D297A |
possibly damaging |
Het |
| L3hypdh |
G |
A |
12: 72,131,723 (GRCm39) |
R70C |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,303,156 (GRCm39) |
Y324C |
probably damaging |
Het |
| Mfap2 |
A |
G |
4: 140,741,114 (GRCm39) |
D25G |
possibly damaging |
Het |
| Mmp17 |
G |
A |
5: 129,672,148 (GRCm39) |
|
probably null |
Het |
| Mroh7 |
G |
A |
4: 106,578,634 (GRCm39) |
P15S |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,417,373 (GRCm39) |
C3440S |
probably benign |
Het |
| Naip5 |
C |
A |
13: 100,382,406 (GRCm39) |
S101I |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,113,060 (GRCm39) |
Y1066N |
|
Het |
| Nop56 |
T |
A |
2: 130,119,188 (GRCm39) |
C38S |
probably benign |
Het |
| Nup214 |
T |
A |
2: 31,923,362 (GRCm39) |
L1297Q |
possibly damaging |
Het |
| Oasl2 |
C |
A |
5: 115,040,329 (GRCm39) |
|
probably benign |
Het |
| Or4a70 |
A |
G |
2: 89,324,132 (GRCm39) |
F175L |
probably damaging |
Het |
| Or4c58 |
T |
C |
2: 89,675,273 (GRCm39) |
N15D |
probably benign |
Het |
| Or51b4 |
A |
G |
7: 103,530,904 (GRCm39) |
V182A |
possibly damaging |
Het |
| Or52a5 |
T |
A |
7: 103,427,547 (GRCm39) |
I2F |
probably benign |
Het |
| Or5h24 |
T |
C |
16: 58,918,731 (GRCm39) |
H208R |
unknown |
Het |
| Or8g4 |
T |
C |
9: 39,662,092 (GRCm39) |
S137P |
possibly damaging |
Het |
| Pacrg |
C |
T |
17: 10,795,496 (GRCm39) |
V155I |
probably benign |
Het |
| Patz1 |
A |
T |
11: 3,257,658 (GRCm39) |
M96L |
probably benign |
Het |
| Pcca |
A |
G |
14: 122,875,794 (GRCm39) |
D141G |
probably benign |
Het |
| Ptprr |
A |
G |
10: 115,884,075 (GRCm39) |
Y44C |
probably damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,911,675 (GRCm39) |
|
probably null |
Het |
| Raet1e |
A |
C |
10: 22,057,198 (GRCm39) |
D174A |
probably damaging |
Het |
| Rhobtb2 |
T |
G |
14: 70,034,214 (GRCm39) |
D337A |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 109,934,594 (GRCm39) |
K1377E |
probably damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,361,567 (GRCm39) |
K260E |
probably damaging |
Het |
| Slc4a8 |
A |
T |
15: 100,685,170 (GRCm39) |
I234F |
possibly damaging |
Het |
| Srgap3 |
C |
T |
6: 112,716,325 (GRCm39) |
R625H |
probably benign |
Het |
| Tbxas1 |
C |
T |
6: 39,004,830 (GRCm39) |
T359I |
probably benign |
Het |
| Trim9 |
T |
A |
12: 70,337,161 (GRCm39) |
S309C |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,659,483 (GRCm39) |
P12191S |
unknown |
Het |
| Unc80 |
A |
G |
1: 66,522,463 (GRCm39) |
R222G |
possibly damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,314 (GRCm39) |
H34Q |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,141 (GRCm39) |
N251K |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,785,924 (GRCm39) |
Y694N |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,205,782 (GRCm39) |
F255S |
probably benign |
Het |
| Zfp532 |
T |
G |
18: 65,758,227 (GRCm39) |
I720R |
possibly damaging |
Het |
| Zfp819 |
A |
G |
7: 43,267,319 (GRCm39) |
T601A |
probably benign |
Het |
| Zfp853 |
G |
T |
5: 143,274,280 (GRCm39) |
Q462K |
unknown |
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 |
|
|
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'- TCCTTCGACTTAGTCATGGAGC -3'
(R):5'- AATATGAGTCTCTTAGGCTGTCC -3'
Sequencing Primer
(F):5'- CGACTTAGTCATGGAGCTACCTG -3'
(R):5'- GTCCTCTCAACTTCAGAAAACTTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation