Incidental Mutation 'R7145:Scaper'
| ID |
553720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scaper
|
| Ensembl Gene |
ENSMUSG00000034007 |
| Gene Name |
S phase cyclin A-associated protein in the ER |
| Synonyms |
Zfp291, D530014O03Rik |
| MMRRC Submission |
045223-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R7145 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55819395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 107
(D107N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037408]
[ENSMUST00000214747]
[ENSMUST00000216595]
[ENSMUST00000217647]
|
| AlphaFold |
F8VQ70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037408
AA Change: D107N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: D107N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCAPER_N
|
88 |
185 |
3.4e-47 |
PFAM |
|
low complexity region
|
323 |
338 |
N/A |
INTRINSIC |
|
coiled coil region
|
415 |
466 |
N/A |
INTRINSIC |
|
coiled coil region
|
535 |
597 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
605 |
769 |
3e-6 |
SMART |
|
ZnF_C2H2
|
791 |
815 |
1.16e1 |
SMART |
|
low complexity region
|
866 |
883 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214747
AA Change: D107N
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000216595
AA Change: D107N
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217647
AA Change: D107N
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,775,820 (GRCm39) |
Y1670H |
probably damaging |
Het |
| Abca12 |
T |
C |
1: 71,346,212 (GRCm39) |
K886R |
possibly damaging |
Het |
| Adcy3 |
G |
A |
12: 4,250,992 (GRCm39) |
E584K |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,693,205 (GRCm39) |
V131D |
probably benign |
Het |
| Arhgdig |
C |
T |
17: 26,418,337 (GRCm39) |
W215* |
probably null |
Het |
| Cad |
G |
T |
5: 31,224,956 (GRCm39) |
W953L |
possibly damaging |
Het |
| Calhm2 |
T |
C |
19: 47,124,080 (GRCm39) |
Y88C |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,156,468 (GRCm39) |
D1681E |
probably benign |
Het |
| Cenpl |
T |
A |
1: 160,910,482 (GRCm39) |
L143H |
possibly damaging |
Het |
| Cherp |
T |
C |
8: 73,222,230 (GRCm39) |
K270E |
|
Het |
| Cmss1 |
A |
G |
16: 57,131,718 (GRCm39) |
I136T |
probably benign |
Het |
| Col23a1 |
T |
C |
11: 51,456,050 (GRCm39) |
|
probably null |
Het |
| Crnn |
C |
A |
3: 93,055,689 (GRCm39) |
D158E |
probably damaging |
Het |
| Dnmt3a |
A |
T |
12: 3,922,844 (GRCm39) |
Q149L |
probably benign |
Het |
| Dst |
T |
A |
1: 34,228,963 (GRCm39) |
N2185K |
probably benign |
Het |
| Eif1ad18 |
G |
T |
12: 88,050,597 (GRCm39) |
C44F |
probably benign |
Het |
| Elp2 |
T |
A |
18: 24,737,126 (GRCm39) |
N25K |
probably benign |
Het |
| Ephb4 |
A |
T |
5: 137,370,308 (GRCm39) |
D845V |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,201,627 (GRCm39) |
T561A |
probably damaging |
Het |
| F3 |
G |
T |
3: 121,525,235 (GRCm39) |
V159L |
probably damaging |
Het |
| Fam81a |
A |
T |
9: 70,017,560 (GRCm39) |
D128E |
probably damaging |
Het |
| Flot1 |
T |
G |
17: 36,135,835 (GRCm39) |
H155Q |
probably benign |
Het |
| Fut9 |
T |
A |
4: 25,620,507 (GRCm39) |
K102N |
probably damaging |
Het |
| Gm6309 |
T |
C |
5: 146,107,100 (GRCm39) |
Q82R |
possibly damaging |
Het |
| H13 |
A |
G |
2: 152,522,992 (GRCm39) |
N102D |
probably damaging |
Het |
| Lamc2 |
C |
G |
1: 153,006,518 (GRCm39) |
A878P |
possibly damaging |
Het |
| Lepr |
C |
T |
4: 101,609,394 (GRCm39) |
T327I |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,285,152 (GRCm39) |
|
probably null |
Het |
| Ly86 |
A |
G |
13: 37,560,986 (GRCm39) |
K116E |
probably damaging |
Het |
| Mapk8ip2 |
T |
A |
15: 89,343,201 (GRCm39) |
F648I |
possibly damaging |
Het |
| Muc16 |
G |
A |
9: 18,566,876 (GRCm39) |
T1881I |
unknown |
Het |
| Myh13 |
T |
G |
11: 67,245,566 (GRCm39) |
S1069A |
probably benign |
Het |
| Myh4 |
T |
A |
11: 67,151,054 (GRCm39) |
I1903N |
possibly damaging |
Het |
| Myo18b |
A |
T |
5: 112,965,545 (GRCm39) |
L1341* |
probably null |
Het |
| Naa25 |
G |
T |
5: 121,555,552 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Ncapg |
C |
T |
5: 45,827,372 (GRCm39) |
A3V |
possibly damaging |
Het |
| Ncln |
T |
C |
10: 81,324,086 (GRCm39) |
H481R |
probably benign |
Het |
| Nek4 |
C |
A |
14: 30,704,305 (GRCm39) |
Q607K |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,796,462 (GRCm39) |
Y1182C |
probably damaging |
Het |
| Npnt |
T |
C |
3: 132,615,692 (GRCm39) |
N165S |
probably benign |
Het |
| Or2l5 |
C |
G |
16: 19,333,649 (GRCm39) |
V246L |
probably damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,721 (GRCm39) |
S215L |
probably damaging |
Het |
| Or8b8 |
A |
G |
9: 37,808,859 (GRCm39) |
H53R |
probably benign |
Het |
| Or8k30 |
T |
C |
2: 86,338,872 (GRCm39) |
L23P |
probably damaging |
Het |
| Otulin |
T |
C |
15: 27,608,856 (GRCm39) |
Y229C |
probably damaging |
Het |
| Palld |
A |
T |
8: 61,985,051 (GRCm39) |
D1071E |
unknown |
Het |
| Pcdhb20 |
T |
C |
18: 37,638,142 (GRCm39) |
S223P |
probably damaging |
Het |
| Pcdhga6 |
T |
A |
18: 37,840,781 (GRCm39) |
I167N |
probably damaging |
Het |
| Pcdhgb4 |
A |
G |
18: 37,854,843 (GRCm39) |
N413D |
probably benign |
Het |
| Pcdhgb8 |
T |
A |
18: 37,896,050 (GRCm39) |
Y373* |
probably null |
Het |
| Plxna2 |
G |
T |
1: 194,331,830 (GRCm39) |
V419L |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,959,434 (GRCm39) |
|
probably null |
Het |
| Rsrc2 |
A |
G |
5: 123,877,630 (GRCm39) |
|
probably benign |
Het |
| Scgb2b3 |
T |
A |
7: 31,059,573 (GRCm39) |
Y67F |
probably benign |
Het |
| Scn5a |
G |
A |
9: 119,315,437 (GRCm39) |
T1757I |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,381,218 (GRCm39) |
P538L |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,298,797 (GRCm39) |
K72R |
probably damaging |
Het |
| Smchd1 |
T |
A |
17: 71,685,202 (GRCm39) |
T1409S |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,867,030 (GRCm39) |
|
probably null |
Het |
| Sult2b1 |
T |
C |
7: 45,383,056 (GRCm39) |
E242G |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,663,687 (GRCm39) |
H64Q |
probably damaging |
Het |
| Tle6 |
T |
C |
10: 81,435,910 (GRCm39) |
T2A |
possibly damaging |
Het |
| Tmem115 |
T |
C |
9: 107,412,285 (GRCm39) |
V203A |
probably benign |
Het |
| Tmem45b |
G |
A |
9: 31,340,337 (GRCm39) |
T108I |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,153,079 (GRCm39) |
D331E |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 38,029,377 (GRCm39) |
Y157C |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r27 |
C |
A |
6: 124,168,711 (GRCm39) |
R806S |
probably benign |
Het |
| Vmn2r59 |
G |
A |
7: 41,695,188 (GRCm39) |
A408V |
probably damaging |
Het |
| Ythdc1 |
T |
C |
5: 86,964,467 (GRCm39) |
V92A |
probably benign |
Het |
|
| Other mutations in Scaper |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00653:Scaper
|
APN |
9 |
55,767,143 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00912:Scaper
|
APN |
9 |
55,593,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01469:Scaper
|
APN |
9 |
55,767,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01626:Scaper
|
APN |
9 |
55,819,335 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01779:Scaper
|
APN |
9 |
55,799,524 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02011:Scaper
|
APN |
9 |
55,487,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02997:Scaper
|
APN |
9 |
55,722,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03107:Scaper
|
APN |
9 |
55,765,686 (GRCm39) |
splice site |
probably benign |
|
|
IGL03167:Scaper
|
APN |
9 |
55,767,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03293:Scaper
|
APN |
9 |
55,782,107 (GRCm39) |
missense |
probably benign |
|
|
IGL03340:Scaper
|
APN |
9 |
55,510,116 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03368:Scaper
|
APN |
9 |
55,563,311 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0111:Scaper
|
UTSW |
9 |
55,510,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0510:Scaper
|
UTSW |
9 |
55,665,346 (GRCm39) |
splice site |
probably benign |
|
|
R0531:Scaper
|
UTSW |
9 |
55,517,158 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0558:Scaper
|
UTSW |
9 |
55,593,207 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0605:Scaper
|
UTSW |
9 |
55,722,802 (GRCm39) |
splice site |
probably benign |
|
|
R0646:Scaper
|
UTSW |
9 |
55,665,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0837:Scaper
|
UTSW |
9 |
55,766,326 (GRCm39) |
nonsense |
probably null |
|
|
R1440:Scaper
|
UTSW |
9 |
55,510,202 (GRCm39) |
nonsense |
probably null |
|
|
R1548:Scaper
|
UTSW |
9 |
55,723,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Scaper
|
UTSW |
9 |
55,771,830 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1822:Scaper
|
UTSW |
9 |
55,767,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1834:Scaper
|
UTSW |
9 |
55,724,018 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1870:Scaper
|
UTSW |
9 |
55,593,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Scaper
|
UTSW |
9 |
55,819,334 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2168:Scaper
|
UTSW |
9 |
55,650,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Scaper
|
UTSW |
9 |
55,766,321 (GRCm39) |
missense |
probably null |
0.01 |
|
R3690:Scaper
|
UTSW |
9 |
55,791,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4392:Scaper
|
UTSW |
9 |
55,765,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4418:Scaper
|
UTSW |
9 |
55,745,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4606:Scaper
|
UTSW |
9 |
55,563,187 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4643:Scaper
|
UTSW |
9 |
55,745,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4665:Scaper
|
UTSW |
9 |
55,819,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4739:Scaper
|
UTSW |
9 |
55,650,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Scaper
|
UTSW |
9 |
55,799,519 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4934:Scaper
|
UTSW |
9 |
55,716,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4956:Scaper
|
UTSW |
9 |
55,745,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Scaper
|
UTSW |
9 |
55,767,003 (GRCm39) |
splice site |
probably null |
|
|
R5107:Scaper
|
UTSW |
9 |
55,487,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5155:Scaper
|
UTSW |
9 |
55,463,370 (GRCm39) |
missense |
probably null |
1.00 |
|
R5265:Scaper
|
UTSW |
9 |
55,771,830 (GRCm39) |
missense |
probably benign |
|
|
R5408:Scaper
|
UTSW |
9 |
55,493,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5623:Scaper
|
UTSW |
9 |
55,771,791 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5665:Scaper
|
UTSW |
9 |
55,714,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5748:Scaper
|
UTSW |
9 |
55,766,360 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5771:Scaper
|
UTSW |
9 |
55,724,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6534:Scaper
|
UTSW |
9 |
55,791,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6557:Scaper
|
UTSW |
9 |
55,458,134 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6651:Scaper
|
UTSW |
9 |
55,765,788 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6796:Scaper
|
UTSW |
9 |
55,771,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6962:Scaper
|
UTSW |
9 |
55,767,055 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7199:Scaper
|
UTSW |
9 |
55,745,460 (GRCm39) |
nonsense |
probably null |
|
|
R7356:Scaper
|
UTSW |
9 |
55,799,495 (GRCm39) |
missense |
unknown |
|
|
R7426:Scaper
|
UTSW |
9 |
55,669,561 (GRCm39) |
nonsense |
probably null |
|
|
R7503:Scaper
|
UTSW |
9 |
55,715,038 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7844:Scaper
|
UTSW |
9 |
55,722,732 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7966:Scaper
|
UTSW |
9 |
55,669,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7992:Scaper
|
UTSW |
9 |
55,765,438 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8081:Scaper
|
UTSW |
9 |
55,823,330 (GRCm39) |
missense |
unknown |
|
|
R8189:Scaper
|
UTSW |
9 |
55,819,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8294:Scaper
|
UTSW |
9 |
55,517,280 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8351:Scaper
|
UTSW |
9 |
55,724,088 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8451:Scaper
|
UTSW |
9 |
55,724,088 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8473:Scaper
|
UTSW |
9 |
55,458,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8476:Scaper
|
UTSW |
9 |
55,669,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8504:Scaper
|
UTSW |
9 |
55,771,722 (GRCm39) |
missense |
probably benign |
|
|
R9058:Scaper
|
UTSW |
9 |
55,722,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9071:Scaper
|
UTSW |
9 |
55,771,803 (GRCm39) |
missense |
probably benign |
|
|
R9099:Scaper
|
UTSW |
9 |
55,669,616 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9104:Scaper
|
UTSW |
9 |
55,819,400 (GRCm39) |
missense |
unknown |
|
|
R9516:Scaper
|
UTSW |
9 |
55,593,275 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9685:Scaper
|
UTSW |
9 |
55,771,835 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0012:Scaper
|
UTSW |
9 |
55,563,214 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0052:Scaper
|
UTSW |
9 |
55,723,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Scaper
|
UTSW |
9 |
55,463,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAATCTTGGAGCAGGGGTTAAAAG -3'
(R):5'- ATGCTAGAAGCCTTTTACTTGCC -3'
Sequencing Primer
(F):5'- CAGGGGTTAAAAGAACAATCCTC -3'
(R):5'- AAGCCTTTTACTTGCCTTTTTAATGG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation