Incidental Mutation 'R6962:Scaper'
| ID |
541829 |
| 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 |
045072-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R6962 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55767055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 465
(T465A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037408]
[ENSMUST00000214747]
[ENSMUST00000216595]
[ENSMUST00000217647]
|
| AlphaFold |
F8VQ70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037408
AA Change: T465A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: T465A
| 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: T459A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216595
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217647
AA Change: T465A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Meta Mutation Damage Score |
0.0598 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
96% (74/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,949,150 (GRCm39) |
K1016E |
probably benign |
Het |
| Abca3 |
T |
C |
17: 24,583,700 (GRCm39) |
F30L |
probably benign |
Het |
| Arhgap17 |
C |
T |
7: 122,895,655 (GRCm39) |
G490R |
probably damaging |
Het |
| Arsg |
T |
A |
11: 109,412,495 (GRCm39) |
L140H |
probably damaging |
Het |
| Bmp2k |
T |
A |
5: 97,179,097 (GRCm39) |
C130* |
probably null |
Het |
| C4b |
T |
C |
17: 34,951,140 (GRCm39) |
|
probably null |
Het |
| Cdk5r2 |
A |
G |
1: 74,894,975 (GRCm39) |
Y240C |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,237,738 (GRCm39) |
|
probably benign |
Het |
| Cubn |
G |
A |
2: 13,352,840 (GRCm39) |
S1966F |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,058,208 (GRCm39) |
Y1509C |
probably benign |
Het |
| Dpp4 |
A |
G |
2: 62,203,174 (GRCm39) |
V265A |
probably benign |
Het |
| Dync2i1 |
A |
T |
12: 116,175,398 (GRCm39) |
D926E |
probably damaging |
Het |
| Fbxl8 |
C |
A |
8: 105,995,338 (GRCm39) |
N283K |
possibly damaging |
Het |
| Fev |
T |
A |
1: 74,921,299 (GRCm39) |
Q122L |
probably benign |
Het |
| Fgd4 |
T |
A |
16: 16,301,951 (GRCm39) |
|
probably null |
Het |
| Fnip2 |
A |
C |
3: 79,396,610 (GRCm39) |
L439R |
probably damaging |
Het |
| Git1 |
C |
A |
11: 77,395,469 (GRCm39) |
Q389K |
probably benign |
Het |
| Gm10509 |
C |
G |
17: 21,909,833 (GRCm39) |
I53M |
possibly damaging |
Het |
| Gm5773 |
A |
T |
3: 93,681,234 (GRCm39) |
H302L |
possibly damaging |
Het |
| Greb1l |
G |
T |
18: 10,547,327 (GRCm39) |
R1515L |
probably damaging |
Het |
| Gsc2 |
T |
C |
16: 17,732,902 (GRCm39) |
Y2C |
possibly damaging |
Het |
| H60b |
A |
G |
10: 22,162,053 (GRCm39) |
N93D |
probably benign |
Het |
| Hgf |
G |
A |
5: 16,820,752 (GRCm39) |
R633Q |
probably benign |
Het |
| Hmgb1 |
C |
T |
5: 148,985,633 (GRCm39) |
|
probably benign |
Het |
| Hmmr |
T |
C |
11: 40,598,242 (GRCm39) |
T657A |
probably damaging |
Het |
| Htt |
G |
T |
5: 35,057,115 (GRCm39) |
|
probably null |
Het |
| Ift80 |
G |
A |
3: 68,901,878 (GRCm39) |
|
probably benign |
Het |
| Kcnq5 |
G |
T |
1: 21,576,017 (GRCm39) |
T229K |
probably damaging |
Het |
| Kcp |
C |
T |
6: 29,482,839 (GRCm39) |
R1410Q |
probably benign |
Het |
| Klhl30 |
T |
G |
1: 91,285,137 (GRCm39) |
V331G |
probably damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrc37 |
G |
A |
11: 103,505,126 (GRCm39) |
P105S |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,334,515 (GRCm39) |
R2849Q |
probably benign |
Het |
| Mex3b |
T |
G |
7: 82,518,473 (GRCm39) |
S263A |
probably benign |
Het |
| Mrgpre |
A |
G |
7: 143,334,799 (GRCm39) |
S235P |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,307,363 (GRCm39) |
V226D |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
| Nudt8 |
G |
T |
19: 4,051,831 (GRCm39) |
L147F |
probably damaging |
Het |
| Or2aj5 |
T |
A |
16: 19,424,672 (GRCm39) |
I249L |
probably benign |
Het |
| Or52e8 |
T |
A |
7: 104,624,580 (GRCm39) |
N208I |
probably benign |
Het |
| Or5w17 |
A |
G |
2: 87,584,071 (GRCm39) |
Y89H |
probably benign |
Het |
| Or6z7 |
A |
T |
7: 6,484,008 (GRCm39) |
I49N |
probably benign |
Het |
| P4htm |
C |
A |
9: 108,456,394 (GRCm39) |
A469S |
possibly damaging |
Het |
| Pld4 |
A |
T |
12: 112,733,288 (GRCm39) |
H288L |
probably benign |
Het |
| Pnpla1 |
T |
A |
17: 29,097,455 (GRCm39) |
I207N |
probably damaging |
Het |
| Ppcs |
T |
G |
4: 119,279,375 (GRCm39) |
N59T |
probably damaging |
Het |
| Ppm1k |
A |
T |
6: 57,492,645 (GRCm39) |
C214S |
probably damaging |
Het |
| Psg25 |
C |
T |
7: 18,263,679 (GRCm39) |
G48E |
probably damaging |
Het |
| Rassf7 |
A |
G |
7: 140,797,503 (GRCm39) |
T239A |
possibly damaging |
Het |
| Rgs3 |
G |
T |
4: 62,618,952 (GRCm39) |
|
probably benign |
Het |
| Slc4a7 |
G |
T |
14: 14,746,021 (GRCm38) |
G405C |
probably damaging |
Het |
| Smpd3 |
T |
C |
8: 106,991,851 (GRCm39) |
D234G |
probably benign |
Het |
| Spata31f1e |
T |
C |
4: 42,793,323 (GRCm39) |
T270A |
probably damaging |
Het |
| Ssc4d |
A |
G |
5: 135,991,775 (GRCm39) |
|
probably null |
Het |
| Sugct |
G |
T |
13: 17,032,606 (GRCm39) |
|
probably null |
Het |
| Taok2 |
C |
A |
7: 126,466,088 (GRCm39) |
|
probably null |
Het |
| Tbx20 |
A |
G |
9: 24,681,036 (GRCm39) |
V152A |
probably damaging |
Het |
| Tbx4 |
A |
G |
11: 85,781,085 (GRCm39) |
E66G |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,902,082 (GRCm39) |
E382G |
probably benign |
Het |
| Ticrr |
T |
G |
7: 79,315,645 (GRCm39) |
S300A |
possibly damaging |
Het |
| Trim46 |
A |
G |
3: 89,146,303 (GRCm39) |
L396P |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,501 (GRCm39) |
F672L |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,858,453 (GRCm39) |
L712S |
probably damaging |
Het |
| Unc93b1 |
T |
G |
19: 3,986,303 (GRCm39) |
D112E |
possibly damaging |
Het |
| Usp17lc |
T |
C |
7: 103,068,118 (GRCm39) |
L471P |
probably benign |
Het |
| Vmn2r85 |
A |
G |
10: 130,261,452 (GRCm39) |
I295T |
probably damaging |
Het |
| Vmn2r96 |
T |
G |
17: 18,818,283 (GRCm39) |
I812S |
probably damaging |
Het |
| Wdr7 |
G |
A |
18: 63,998,359 (GRCm39) |
C1102Y |
possibly damaging |
Het |
| Wnt9b |
G |
T |
11: 103,624,515 (GRCm39) |
Q92K |
probably null |
Het |
| Zbtb26 |
A |
T |
2: 37,326,106 (GRCm39) |
M310K |
possibly damaging |
Het |
| Zdhhc1 |
T |
C |
8: 106,210,279 (GRCm39) |
H46R |
probably damaging |
Het |
| Zfp628 |
G |
T |
7: 4,922,549 (GRCm39) |
R257L |
probably benign |
Het |
| Zfp747l1 |
A |
T |
7: 126,983,487 (GRCm39) |
D538E |
possibly damaging |
Het |
| Zmat4 |
A |
G |
8: 24,392,181 (GRCm39) |
T46A |
probably benign |
Het |
| Zmiz2 |
T |
A |
11: 6,352,455 (GRCm39) |
W637R |
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 |
|
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'- AGCCCCTAGAAATTACAATCTGAAG -3'
(R):5'- GCTAGTTTATGAACAGCGTAGAAAG -3'
Sequencing Primer
(F):5'- GGGTTCTTCCTTTCTGATAGACAC -3'
(R):5'- AAGAGCTAGCAGATCGTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation