Incidental Mutation 'R3690:Scaper'
| ID |
269734 |
| 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 |
040685-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.629)
|
| Stock # |
R3690 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55791205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 231
(G231D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037408]
[ENSMUST00000214747]
[ENSMUST00000216595]
[ENSMUST00000217647]
|
| AlphaFold |
F8VQ70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037408
AA Change: G231D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: G231D
| 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: G231D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000216595
AA Change: G231D
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217647
AA Change: G231D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,091,328 (GRCm39) |
Y629F |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,836,668 (GRCm39) |
D1081V |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,108,671 (GRCm39) |
E1398G |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,368,055 (GRCm39) |
C893R |
probably damaging |
Het |
| Avl9 |
C |
T |
6: 56,713,812 (GRCm39) |
H357Y |
probably benign |
Het |
| Bclaf1 |
C |
T |
10: 20,201,143 (GRCm39) |
T423I |
possibly damaging |
Het |
| Btbd19 |
A |
T |
4: 116,977,789 (GRCm39) |
|
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,758,419 (GRCm39) |
S254P |
probably damaging |
Het |
| Cdc42ep1 |
T |
C |
15: 78,731,629 (GRCm39) |
S25P |
probably benign |
Het |
| Cln6 |
T |
C |
9: 62,754,252 (GRCm39) |
I98T |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,814,957 (GRCm39) |
|
probably null |
Het |
| Dcx |
T |
C |
X: 142,660,240 (GRCm39) |
E268G |
possibly damaging |
Het |
| Ddias |
G |
A |
7: 92,509,366 (GRCm39) |
P183L |
probably benign |
Het |
| Dnase2b |
A |
T |
3: 146,299,326 (GRCm39) |
Y42* |
probably null |
Het |
| Dusp16 |
C |
T |
6: 134,738,082 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
C |
11: 16,821,881 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,227,393 (GRCm39) |
V842A |
probably benign |
Het |
| Folr1 |
T |
C |
7: 101,507,745 (GRCm39) |
S232G |
probably benign |
Het |
| Foxj3 |
T |
C |
4: 119,473,839 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,137 (GRCm39) |
M75V |
probably benign |
Het |
| Fxyd5 |
G |
T |
7: 30,735,864 (GRCm39) |
L128M |
possibly damaging |
Het |
| Gigyf2 |
T |
C |
1: 87,349,238 (GRCm39) |
S500P |
possibly damaging |
Het |
| Inppl1 |
A |
G |
7: 101,481,275 (GRCm39) |
L268P |
probably damaging |
Het |
| Klk1b24 |
A |
T |
7: 43,841,243 (GRCm39) |
H192L |
probably benign |
Het |
| Llgl1 |
T |
G |
11: 60,597,828 (GRCm39) |
Y316D |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,801,374 (GRCm39) |
*143R |
probably null |
Het |
| Map3k15 |
T |
A |
X: 158,905,568 (GRCm39) |
N1295K |
possibly damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,318,513 (GRCm39) |
E678G |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,757,366 (GRCm39) |
Y270* |
probably null |
Het |
| Nav1 |
T |
A |
1: 135,395,382 (GRCm39) |
I996L |
probably benign |
Het |
| Neb |
T |
C |
2: 52,027,397 (GRCm39) |
E6868G |
probably damaging |
Het |
| Nexmif |
A |
T |
X: 103,131,213 (GRCm39) |
Y235N |
probably damaging |
Het |
| Nup50 |
C |
T |
15: 84,823,994 (GRCm39) |
T449M |
probably damaging |
Het |
| Or14a256 |
G |
A |
7: 86,265,686 (GRCm39) |
P56S |
probably damaging |
Het |
| Or2b6 |
A |
G |
13: 21,823,508 (GRCm39) |
F62L |
probably damaging |
Het |
| Or51aa2 |
T |
C |
7: 103,188,274 (GRCm39) |
T56A |
probably benign |
Het |
| Or52e8b |
A |
G |
7: 104,673,902 (GRCm39) |
L95P |
probably damaging |
Het |
| Or52n2 |
T |
C |
7: 104,542,724 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Pald1 |
A |
T |
10: 61,191,587 (GRCm39) |
|
probably null |
Het |
| Pde11a |
T |
A |
2: 76,121,510 (GRCm39) |
K357I |
probably damaging |
Het |
| Ric3 |
A |
G |
7: 108,637,817 (GRCm39) |
V312A |
possibly damaging |
Het |
| Smc1b |
T |
A |
15: 85,001,464 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,668,854 (GRCm39) |
M1V |
probably null |
Het |
| Smtn |
T |
C |
11: 3,477,687 (GRCm39) |
|
probably benign |
Het |
| Spatc1 |
A |
T |
15: 76,152,495 (GRCm39) |
K42* |
probably null |
Het |
| Taf7l |
A |
T |
X: 133,365,074 (GRCm39) |
I449K |
probably damaging |
Het |
| Tex47 |
A |
G |
5: 7,354,777 (GRCm39) |
|
probably benign |
Het |
| Tram2 |
T |
A |
1: 21,075,824 (GRCm39) |
Y198F |
probably damaging |
Het |
| Ttn |
C |
G |
2: 76,629,588 (GRCm39) |
W14284C |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,926,547 (GRCm39) |
K442E |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,603,798 (GRCm39) |
F8I |
unknown |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,370 (GRCm39) |
F815S |
possibly damaging |
Het |
| Zap70 |
T |
C |
1: 36,820,493 (GRCm39) |
C563R |
probably damaging |
Het |
| Zfp579 |
T |
C |
7: 4,997,719 (GRCm39) |
H64R |
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 |
|
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'- CATAAAATAAGGGAAAGTTTGGGGTT -3'
(R):5'- TGACTGAGTCAAGGATGATATGCA -3'
Sequencing Primer
(F):5'- GATTAAAGATGTGTGCCCCCACTG -3'
(R):5'- GAGTCAAGGATGATATGCATTGTTAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation