Incidental Mutation 'R9058:Scaper'
| ID |
688823 |
| 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 |
068884-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R9058 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55722762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 682
(E682G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037408]
[ENSMUST00000214747]
[ENSMUST00000216595]
[ENSMUST00000217647]
|
| AlphaFold |
F8VQ70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037408
AA Change: E682G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: E682G
| 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 |
probably damaging
Transcript: ENSMUST00000214747
AA Change: E676G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216595
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217647
AA Change: E682G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
T |
C |
11: 116,080,268 (GRCm39) |
T135A |
possibly damaging |
Het |
| Adrm1b |
A |
T |
3: 92,335,559 (GRCm39) |
M283K |
probably benign |
Het |
| Aldh8a1 |
T |
C |
10: 21,258,344 (GRCm39) |
I147T |
possibly damaging |
Het |
| Alkbh5 |
T |
C |
11: 60,444,548 (GRCm39) |
L288S |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,080,817 (GRCm39) |
D478G |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 135,998,436 (GRCm39) |
K155* |
probably null |
Het |
| Ccser1 |
T |
C |
6: 61,350,976 (GRCm39) |
L511P |
probably damaging |
Het |
| Cebpz |
A |
T |
17: 79,243,227 (GRCm39) |
N142K |
probably benign |
Het |
| Cfap299 |
A |
T |
5: 98,932,400 (GRCm39) |
D200V |
probably damaging |
Het |
| Clip1 |
G |
T |
5: 123,752,645 (GRCm39) |
R379S |
|
Het |
| Cpne8 |
T |
A |
15: 90,381,276 (GRCm39) |
I513F |
probably damaging |
Het |
| Ctnnb1 |
T |
A |
9: 120,780,476 (GRCm39) |
C213* |
probably null |
Het |
| Dnah7b |
A |
G |
1: 46,282,575 (GRCm39) |
K2903E |
probably damaging |
Het |
| Dnah7c |
G |
T |
1: 46,805,816 (GRCm39) |
G3422W |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,333,270 (GRCm39) |
H247Q |
probably benign |
Het |
| Efna2 |
A |
G |
10: 80,022,720 (GRCm39) |
Y88C |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,992,265 (GRCm39) |
G1539R |
probably benign |
Het |
| Exoc3l2 |
A |
T |
7: 19,203,821 (GRCm39) |
K138* |
probably null |
Het |
| Fam47e |
A |
G |
5: 92,719,367 (GRCm39) |
|
probably benign |
Het |
| Frmpd1 |
T |
A |
4: 45,283,948 (GRCm39) |
M923K |
probably damaging |
Het |
| Gbe1 |
A |
G |
16: 70,324,059 (GRCm39) |
E558G |
possibly damaging |
Het |
| Gm5431 |
T |
C |
11: 48,786,049 (GRCm39) |
T109A |
probably benign |
Het |
| Gm9508 |
G |
A |
10: 77,532,620 (GRCm39) |
P150S |
unknown |
Het |
| Grep1 |
T |
C |
17: 23,935,016 (GRCm39) |
N63S |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hrob |
T |
C |
11: 102,146,386 (GRCm39) |
S221P |
probably benign |
Het |
| Hsfy2 |
A |
T |
1: 56,676,504 (GRCm39) |
V11D |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,944,941 (GRCm39) |
N887D |
probably damaging |
Het |
| Kirrel1 |
A |
G |
3: 86,992,442 (GRCm39) |
V541A |
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lamc3 |
G |
A |
2: 31,798,653 (GRCm39) |
R453H |
probably benign |
Het |
| Mideas |
A |
G |
12: 84,220,642 (GRCm39) |
M104T |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,218,154 (GRCm39) |
T2173S |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,075,341 (GRCm39) |
N208S |
probably benign |
Het |
| Nlrc5 |
A |
T |
8: 95,238,938 (GRCm39) |
T1459S |
possibly damaging |
Het |
| Npy1r |
T |
C |
8: 67,156,600 (GRCm39) |
S7P |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,002,255 (GRCm39) |
N66S |
probably benign |
Het |
| Nr5a1 |
T |
C |
2: 38,584,034 (GRCm39) |
T462A |
probably damaging |
Het |
| Ntng2 |
A |
G |
2: 29,094,202 (GRCm39) |
C390R |
probably benign |
Het |
| Or4p23 |
A |
C |
2: 88,577,030 (GRCm39) |
D67E |
|
Het |
| Or5b119 |
G |
A |
19: 13,456,956 (GRCm39) |
T202I |
possibly damaging |
Het |
| Or7g12 |
T |
A |
9: 18,900,222 (GRCm39) |
*313R |
probably null |
Het |
| Pecam1 |
G |
T |
11: 106,590,675 (GRCm39) |
P33Q |
probably damaging |
Het |
| Phc2 |
T |
A |
4: 128,616,769 (GRCm39) |
F347L |
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,592,604 (GRCm39) |
H938L |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Prkch |
G |
T |
12: 73,822,308 (GRCm39) |
|
probably null |
Het |
| Prr5 |
A |
G |
15: 84,641,241 (GRCm39) |
N169S |
probably benign |
Het |
| Puf60 |
C |
T |
15: 75,942,425 (GRCm39) |
D483N |
probably benign |
Het |
| Puf60 |
C |
T |
15: 75,944,382 (GRCm39) |
M133I |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,363,398 (GRCm39) |
H284R |
probably benign |
Het |
| Sds |
A |
G |
5: 120,618,779 (GRCm39) |
E111G |
possibly damaging |
Het |
| Sec23b |
T |
A |
2: 144,424,010 (GRCm39) |
I553N |
probably damaging |
Het |
| Serpina1a |
A |
T |
12: 103,820,001 (GRCm39) |
I415K |
possibly damaging |
Het |
| Slc14a1 |
T |
A |
18: 78,145,785 (GRCm39) |
|
probably null |
Het |
| Socs1 |
G |
A |
16: 10,602,692 (GRCm39) |
P15L |
probably benign |
Het |
| Sv2b |
A |
T |
7: 74,789,822 (GRCm39) |
|
probably null |
Het |
| Sync |
T |
C |
4: 129,187,217 (GRCm39) |
I83T |
probably damaging |
Het |
| Syt16 |
T |
A |
12: 74,282,019 (GRCm39) |
L381Q |
probably damaging |
Het |
| Tbx20 |
T |
C |
9: 24,681,019 (GRCm39) |
R158G |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmem19 |
C |
A |
10: 115,198,031 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
A |
C |
1: 14,959,618 (GRCm39) |
N689K |
probably damaging |
Het |
| Ube3b |
C |
A |
5: 114,553,300 (GRCm39) |
H891N |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,313,021 (GRCm39) |
M697K |
possibly damaging |
Het |
| Zfp142 |
A |
T |
1: 74,608,955 (GRCm39) |
C1613* |
probably null |
Het |
| Zfp7 |
T |
A |
15: 76,764,981 (GRCm39) |
M1K |
probably null |
Het |
| Zfp936 |
A |
T |
7: 42,839,196 (GRCm39) |
Q221L |
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 |
|
R7145:Scaper
|
UTSW |
9 |
55,819,395 (GRCm39) |
missense |
unknown |
|
|
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 |
|
|
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'- GCTGTAACTATTTGCTCAGTGG -3'
(R):5'- CGTTACAAGGTGTGCATAGAAGC -3'
Sequencing Primer
(F):5'- GTGGCAAACTGTTCATCAAGAC -3'
(R):5'- TGCATAGAAGCATGTGAATATGTGTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation