Incidental Mutation 'R8081:Scaper'
| ID |
629353 |
| 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 |
067514-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R8081 (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 55823330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 22
(G22D)
|
| 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: G22D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: G22D
| 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: G22D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000216595
AA Change: G22D
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217647
AA Change: G22D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
T |
6: 83,138,313 (GRCm39) |
E119V |
probably damaging |
Het |
| Adamts2 |
A |
T |
11: 50,668,004 (GRCm39) |
D522V |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,676,221 (GRCm39) |
L183* |
probably null |
Het |
| Arhgap10 |
T |
C |
8: 78,109,375 (GRCm39) |
I403V |
possibly damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,632,949 (GRCm39) |
S687P |
probably damaging |
Het |
| Cdhr1 |
C |
T |
14: 36,815,967 (GRCm39) |
V144I |
probably benign |
Het |
| Cdk20 |
A |
G |
13: 64,586,766 (GRCm39) |
I339V |
probably benign |
Het |
| Ceacam13 |
A |
G |
7: 17,747,113 (GRCm39) |
K189E |
probably damaging |
Het |
| Cep290 |
C |
T |
10: 100,394,038 (GRCm39) |
Q2082* |
probably null |
Het |
| Cgrrf1 |
A |
G |
14: 47,091,468 (GRCm39) |
T331A |
probably benign |
Het |
| Cntn4 |
G |
A |
6: 106,651,568 (GRCm39) |
V706I |
possibly damaging |
Het |
| Csrnp2 |
T |
C |
15: 100,387,462 (GRCm39) |
D2G |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,007,519 (GRCm39) |
I714T |
probably benign |
Het |
| Cx3cr1 |
C |
T |
9: 119,880,878 (GRCm39) |
E175K |
possibly damaging |
Het |
| Dennd1c |
G |
A |
17: 57,381,139 (GRCm39) |
P163L |
possibly damaging |
Het |
| Dhtkd1 |
C |
T |
2: 5,928,919 (GRCm39) |
E251K |
probably damaging |
Het |
| Epas1 |
C |
T |
17: 87,136,797 (GRCm39) |
P787S |
probably benign |
Het |
| Epha2 |
T |
C |
4: 141,049,605 (GRCm39) |
V737A |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fcsk |
T |
A |
8: 111,615,783 (GRCm39) |
R515S |
probably benign |
Het |
| Fscb |
A |
T |
12: 64,518,802 (GRCm39) |
M888K |
unknown |
Het |
| Gldc |
ACGACC |
AC |
19: 30,135,987 (GRCm39) |
|
probably null |
Het |
| Gm14443 |
A |
T |
2: 175,012,238 (GRCm39) |
C69* |
probably null |
Het |
| Gm19668 |
G |
A |
10: 77,634,420 (GRCm39) |
A183V |
unknown |
Het |
| Gm49368 |
A |
G |
7: 127,726,280 (GRCm39) |
R1231G |
unknown |
Het |
| Grin2c |
T |
C |
11: 115,140,719 (GRCm39) |
Y1133C |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Hydin |
T |
C |
8: 111,092,101 (GRCm39) |
S425P |
possibly damaging |
Het |
| Ifnl3 |
T |
C |
7: 28,223,682 (GRCm39) |
S173P |
probably damaging |
Het |
| Igkv4-63 |
A |
T |
6: 69,355,018 (GRCm39) |
S88T |
possibly damaging |
Het |
| Klhl5 |
C |
A |
5: 65,320,268 (GRCm39) |
N607K |
possibly damaging |
Het |
| Lag3 |
A |
T |
6: 124,882,410 (GRCm39) |
L362* |
probably null |
Het |
| Lats2 |
C |
A |
14: 57,937,968 (GRCm39) |
G174C |
probably damaging |
Het |
| Mcm6 |
T |
C |
1: 128,265,905 (GRCm39) |
E622G |
probably damaging |
Het |
| Med13l |
C |
A |
5: 118,866,333 (GRCm39) |
H462Q |
probably damaging |
Het |
| Mrpl53 |
T |
A |
6: 83,086,159 (GRCm39) |
F23I |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,417,743 (GRCm39) |
I3563S |
possibly damaging |
Het |
| Myo16 |
A |
C |
8: 10,372,743 (GRCm39) |
L147F |
unknown |
Het |
| Npc1l1 |
G |
C |
11: 6,167,768 (GRCm39) |
Q1008E |
probably benign |
Het |
| Npy4r |
A |
G |
14: 33,868,524 (GRCm39) |
S255P |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,053,657 (GRCm39) |
N287D |
probably benign |
Het |
| Opn3 |
T |
A |
1: 175,493,135 (GRCm39) |
H143L |
probably damaging |
Het |
| Or12e7 |
G |
T |
2: 87,287,513 (GRCm39) |
M1I |
probably null |
Het |
| Or12j3 |
A |
T |
7: 139,952,972 (GRCm39) |
L184M |
probably damaging |
Het |
| Or12j5 |
A |
T |
7: 140,084,369 (GRCm39) |
M1K |
probably null |
Het |
| Or4k2 |
T |
A |
14: 50,423,825 (GRCm39) |
N284I |
probably damaging |
Het |
| Or5ap2b-ps1 |
C |
T |
2: 85,693,839 (GRCm39) |
P28L |
probably damaging |
Het |
| Pdcd7 |
C |
T |
9: 65,253,967 (GRCm39) |
R182C |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Picalm |
T |
A |
7: 89,840,451 (GRCm39) |
L540* |
probably null |
Het |
| Ppp1r21 |
T |
A |
17: 88,866,272 (GRCm39) |
I356N |
probably damaging |
Het |
| Rgs6 |
C |
T |
12: 83,094,347 (GRCm39) |
Q67* |
probably null |
Het |
| Ripor2 |
C |
A |
13: 24,897,683 (GRCm39) |
Q794K |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,013,719 (GRCm39) |
I702N |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,936 (GRCm39) |
L417P |
probably damaging |
Het |
| Samhd1 |
A |
T |
2: 156,943,358 (GRCm39) |
C605* |
probably null |
Het |
| Senp5 |
T |
C |
16: 31,784,577 (GRCm39) |
T692A |
probably damaging |
Het |
| Six6 |
G |
T |
12: 72,986,875 (GRCm39) |
G16W |
probably damaging |
Het |
| Slc38a8 |
A |
T |
8: 120,212,269 (GRCm39) |
M358K |
possibly damaging |
Het |
| Snx2 |
T |
C |
18: 53,349,459 (GRCm39) |
F407L |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,039,219 (GRCm39) |
N1954K |
probably damaging |
Het |
| Syk |
A |
T |
13: 52,792,195 (GRCm39) |
M429L |
probably benign |
Het |
| Tln2 |
T |
A |
9: 67,264,029 (GRCm39) |
N537Y |
probably damaging |
Het |
| Usp29 |
T |
A |
7: 6,966,629 (GRCm39) |
M824K |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,423,803 (GRCm39) |
|
probably benign |
Het |
| Wdr37 |
C |
T |
13: 8,885,406 (GRCm39) |
D346N |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,965,644 (GRCm39) |
C710S |
probably 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 |
|
|
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 |
|
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'- ATGCCAATTTGCTGGAGAATTC -3'
(R):5'- AACTTCCTATTTTGACCCAACTGG -3'
Sequencing Primer
(F):5'- TATATTGCCAAGGCTAGCCCTGAG -3'
(R):5'- CATGGATTTTGGAGACTTGAACTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation