Incidental Mutation 'R0531:Scaper'
| ID |
49167 |
| 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 |
038723-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R0531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55517158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 599
(D599E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037408]
[ENSMUST00000214747]
[ENSMUST00000216595]
[ENSMUST00000217647]
|
| AlphaFold |
F8VQ70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037408
AA Change: D1092E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: D1092E
| 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 benign
Transcript: ENSMUST00000214747
AA Change: D1086E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216595
AA Change: D599E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217647
AA Change: D1092E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Meta Mutation Damage Score |
0.0600 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,892,127 (GRCm39) |
N130D |
probably benign |
Het |
| Acot6 |
C |
A |
12: 84,148,075 (GRCm39) |
D110E |
probably benign |
Het |
| Agrn |
T |
A |
4: 156,263,891 (GRCm39) |
N124I |
probably benign |
Het |
| Astn1 |
G |
T |
1: 158,427,959 (GRCm39) |
G710V |
probably damaging |
Het |
| Bcar3 |
T |
C |
3: 122,220,148 (GRCm39) |
V15A |
probably benign |
Het |
| Best3 |
T |
C |
10: 116,840,280 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,090,974 (GRCm39) |
I743N |
probably damaging |
Het |
| Cenpa |
T |
C |
5: 30,829,837 (GRCm39) |
F39L |
possibly damaging |
Het |
| Cfap44 |
A |
T |
16: 44,221,789 (GRCm39) |
M1L |
probably benign |
Het |
| Chrnd |
A |
G |
1: 87,122,541 (GRCm39) |
I107M |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,277,351 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,889,787 (GRCm39) |
|
probably null |
Het |
| Entpd8 |
A |
G |
2: 24,974,781 (GRCm39) |
Y404C |
probably damaging |
Het |
| Fam118a |
T |
C |
15: 84,932,633 (GRCm39) |
I125T |
possibly damaging |
Het |
| Fam161a |
G |
A |
11: 22,970,298 (GRCm39) |
E159K |
possibly damaging |
Het |
| Fkbp5 |
A |
T |
17: 28,657,003 (GRCm39) |
H71Q |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,427,375 (GRCm39) |
Y2926N |
probably damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,691 (GRCm39) |
D23E |
probably damaging |
Het |
| Glt8d1 |
T |
C |
14: 30,728,461 (GRCm39) |
F3S |
probably benign |
Het |
| Gm11555 |
C |
T |
11: 99,540,844 (GRCm39) |
|
probably benign |
Het |
| Gtpbp1 |
G |
A |
15: 79,604,292 (GRCm39) |
G667S |
probably damaging |
Het |
| H2-T24 |
A |
C |
17: 36,326,463 (GRCm39) |
S145R |
probably benign |
Het |
| Inpp5b |
A |
T |
4: 124,689,249 (GRCm39) |
N843I |
probably damaging |
Het |
| Jak3 |
C |
T |
8: 72,139,620 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
T |
A |
15: 101,909,883 (GRCm39) |
M174L |
probably benign |
Het |
| Ktn1 |
C |
T |
14: 47,901,398 (GRCm39) |
T52I |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,305,523 (GRCm39) |
|
probably benign |
Het |
| Nefh |
G |
A |
11: 4,890,240 (GRCm39) |
A793V |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,593,835 (GRCm39) |
V840A |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,356,584 (GRCm39) |
S1678P |
probably benign |
Het |
| Notch2 |
C |
T |
3: 98,009,767 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 88,762,112 (GRCm39) |
F53S |
probably damaging |
Het |
| Or10d4c |
A |
G |
9: 39,558,168 (GRCm39) |
T49A |
probably benign |
Het |
| Or2ab1 |
A |
G |
11: 58,488,674 (GRCm39) |
I151V |
probably benign |
Het |
| Or5ac25 |
T |
A |
16: 59,182,171 (GRCm39) |
N137Y |
probably damaging |
Het |
| Or6z5 |
A |
T |
7: 6,477,234 (GRCm39) |
I42F |
possibly damaging |
Het |
| Or8g17 |
G |
T |
9: 38,930,472 (GRCm39) |
R122S |
probably damaging |
Het |
| Or9i16 |
C |
T |
19: 13,865,116 (GRCm39) |
V153I |
possibly damaging |
Het |
| Pak4 |
T |
A |
7: 28,267,479 (GRCm39) |
I62F |
possibly damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,371 (GRCm39) |
F506I |
probably damaging |
Het |
| Per1 |
A |
T |
11: 68,995,016 (GRCm39) |
D632V |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,498 (GRCm39) |
M2678T |
probably benign |
Het |
| Plg |
A |
G |
17: 12,630,334 (GRCm39) |
|
probably benign |
Het |
| Prmt1 |
A |
T |
7: 44,627,048 (GRCm39) |
S304R |
probably damaging |
Het |
| Prr27 |
T |
C |
5: 87,990,537 (GRCm39) |
F50L |
probably benign |
Het |
| Prune2 |
T |
C |
19: 16,984,117 (GRCm39) |
L159P |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,203,481 (GRCm39) |
N432K |
possibly damaging |
Het |
| Rfwd3 |
A |
G |
8: 112,020,621 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
T |
15: 39,430,426 (GRCm39) |
D1170V |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,762,351 (GRCm39) |
|
probably null |
Het |
| Sall4 |
C |
T |
2: 168,598,256 (GRCm39) |
A195T |
probably benign |
Het |
| Sbf2 |
G |
A |
7: 109,966,530 (GRCm39) |
|
probably benign |
Het |
| Sema7a |
G |
A |
9: 57,867,876 (GRCm39) |
S484N |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,962,761 (GRCm39) |
|
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,031,166 (GRCm39) |
T623A |
probably damaging |
Het |
| Siae |
A |
G |
9: 37,539,090 (GRCm39) |
D95G |
probably benign |
Het |
| Slc26a2 |
T |
C |
18: 61,331,451 (GRCm39) |
D660G |
probably damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,336,077 (GRCm39) |
F73S |
possibly damaging |
Het |
| Slfn5 |
A |
T |
11: 82,851,866 (GRCm39) |
Q664L |
probably damaging |
Het |
| Spire1 |
T |
C |
18: 67,624,375 (GRCm39) |
I512V |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,124,797 (GRCm39) |
T133A |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,836,300 (GRCm39) |
*175W |
probably null |
Het |
| Stk32c |
C |
A |
7: 138,700,636 (GRCm39) |
V316F |
probably damaging |
Het |
| Tekt1 |
A |
C |
11: 72,236,420 (GRCm39) |
N347K |
possibly damaging |
Het |
| Tmem81 |
C |
G |
1: 132,435,567 (GRCm39) |
I124M |
probably damaging |
Het |
| Tnpo2 |
T |
A |
8: 85,776,786 (GRCm39) |
C498S |
probably damaging |
Het |
| Tra2b |
G |
A |
16: 22,065,955 (GRCm39) |
R281* |
probably null |
Het |
| Ubr5 |
A |
T |
15: 37,991,588 (GRCm39) |
I1985N |
probably benign |
Het |
| Ush2a |
T |
G |
1: 188,175,378 (GRCm39) |
S1159A |
probably benign |
Het |
| Vmn1r15 |
C |
T |
6: 57,235,236 (GRCm39) |
P35S |
probably benign |
Het |
| Vmn1r6 |
A |
T |
6: 56,979,583 (GRCm39) |
I60L |
probably benign |
Het |
| Vps8 |
A |
G |
16: 21,278,561 (GRCm39) |
|
probably benign |
Het |
| Xkr7 |
T |
C |
2: 152,874,272 (GRCm39) |
V113A |
possibly damaging |
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 |
|
|
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 |
|
|
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'- AAGCCTTAGCTGTAACAAGTGCTCC -3'
(R):5'- TGTCTCATTGCCTCGGTAGAATCTCAG -3'
Sequencing Primer
(F):5'- GTGCTCCATAAATGGAACTCTTGC -3'
(R):5'- GGTTTCACTGAAGCATACTCACTG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation