Incidental Mutation 'R5408:Scaper'
ID |
426401 |
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 |
042977-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.629)
|
Stock # |
R5408 (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 55493508 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 1226
(F1226I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149050
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037408]
[ENSMUST00000214747]
[ENSMUST00000216595]
[ENSMUST00000217647]
|
AlphaFold |
F8VQ70 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037408
AA Change: F1232I
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000043411 Gene: ENSMUSG00000034007 AA Change: F1232I
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: F1226I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216595
AA Change: F739I
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217647
AA Change: F1232I
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.2500 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
99% (74/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430110L20Rik |
A |
G |
1: 181,054,979 (GRCm39) |
|
noncoding transcript |
Het |
Actn2 |
T |
C |
13: 12,285,681 (GRCm39) |
I837V |
probably benign |
Het |
Adora1 |
T |
A |
1: 134,130,901 (GRCm39) |
T257S |
probably benign |
Het |
Akap9 |
T |
A |
5: 4,108,458 (GRCm39) |
M2954K |
possibly damaging |
Het |
Akr1c13 |
G |
T |
13: 4,244,715 (GRCm39) |
A98S |
probably benign |
Het |
Aldh2 |
C |
T |
5: 121,708,620 (GRCm39) |
|
probably benign |
Het |
Ank1 |
A |
G |
8: 23,572,209 (GRCm39) |
N48D |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,889,701 (GRCm39) |
T527A |
probably damaging |
Het |
Atp13a1 |
T |
C |
8: 70,249,490 (GRCm39) |
V251A |
probably benign |
Het |
Baz1a |
A |
T |
12: 54,969,835 (GRCm39) |
D608E |
probably damaging |
Het |
Bend5 |
A |
T |
4: 111,311,280 (GRCm39) |
|
probably null |
Het |
Blm |
T |
G |
7: 80,152,370 (GRCm39) |
T526P |
probably benign |
Het |
Cacna1a |
T |
C |
8: 85,276,336 (GRCm39) |
V559A |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,325,752 (GRCm39) |
D1042G |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,705,759 (GRCm38) |
H212R |
possibly damaging |
Het |
Cdh3 |
T |
C |
8: 107,263,269 (GRCm39) |
I106T |
probably damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Cfap68 |
T |
C |
9: 50,676,057 (GRCm39) |
N87S |
probably damaging |
Het |
Col16a1 |
A |
T |
4: 129,986,898 (GRCm39) |
|
probably benign |
Het |
Dctn6 |
C |
T |
8: 34,562,056 (GRCm39) |
V89I |
possibly damaging |
Het |
Dgkz |
C |
A |
2: 91,766,168 (GRCm39) |
G798W |
possibly damaging |
Het |
Epb41l2 |
A |
T |
10: 25,343,992 (GRCm39) |
|
probably null |
Het |
Fam171a2 |
T |
C |
11: 102,328,344 (GRCm39) |
K805R |
possibly damaging |
Het |
Fam89b |
G |
T |
19: 5,779,421 (GRCm39) |
Y45* |
probably null |
Het |
Fchsd2 |
A |
G |
7: 100,920,781 (GRCm39) |
N462S |
possibly damaging |
Het |
Fyco1 |
T |
G |
9: 123,658,568 (GRCm39) |
H536P |
probably damaging |
Het |
Galnt12 |
A |
T |
4: 47,104,169 (GRCm39) |
E142D |
probably damaging |
Het |
Gspt1 |
C |
T |
16: 11,071,719 (GRCm39) |
G48D |
probably benign |
Het |
H6pd |
A |
G |
4: 150,067,322 (GRCm39) |
S355P |
probably damaging |
Het |
Hectd2 |
T |
C |
19: 36,532,296 (GRCm39) |
V38A |
possibly damaging |
Het |
Jup |
C |
T |
11: 100,267,607 (GRCm39) |
R572Q |
probably damaging |
Het |
Kcng3 |
T |
C |
17: 83,938,434 (GRCm39) |
D205G |
probably benign |
Het |
Kif13b |
A |
T |
14: 65,017,138 (GRCm39) |
|
probably null |
Het |
Mapk3 |
A |
G |
7: 126,363,007 (GRCm39) |
D253G |
probably damaging |
Het |
Methig1 |
A |
T |
15: 100,281,635 (GRCm39) |
Y253F |
possibly damaging |
Het |
Mmp3 |
T |
C |
9: 7,449,904 (GRCm39) |
S263P |
probably damaging |
Het |
Mpo |
T |
A |
11: 87,691,851 (GRCm39) |
|
probably null |
Het |
Nbeal2 |
C |
A |
9: 110,466,588 (GRCm39) |
G772W |
possibly damaging |
Het |
Nr1d1 |
T |
A |
11: 98,661,087 (GRCm39) |
H393L |
probably benign |
Het |
Obscn |
A |
G |
11: 58,942,437 (GRCm39) |
V4915A |
probably damaging |
Het |
Olfml2b |
T |
A |
1: 170,472,545 (GRCm39) |
W19R |
probably damaging |
Het |
Or13p4 |
T |
C |
4: 118,547,641 (GRCm39) |
T3A |
probably benign |
Het |
Or56b1b |
C |
T |
7: 108,164,376 (GRCm39) |
A209T |
probably damaging |
Het |
Padi6 |
G |
A |
4: 140,454,996 (GRCm39) |
T647I |
probably damaging |
Het |
Pcyox1 |
A |
G |
6: 86,369,280 (GRCm39) |
L113S |
probably damaging |
Het |
Pde4dip |
T |
A |
3: 97,704,052 (GRCm39) |
T192S |
probably benign |
Het |
Pip4k2a |
T |
C |
2: 18,911,119 (GRCm39) |
H87R |
probably benign |
Het |
Pkd1l3 |
C |
A |
8: 110,393,684 (GRCm39) |
T2004N |
probably damaging |
Het |
Prex1 |
CGTTGTTGTTGT |
CGTTGTTGTTGTTGT |
2: 166,417,573 (GRCm39) |
|
probably benign |
Het |
Ptprz1 |
C |
T |
6: 23,002,599 (GRCm39) |
T1563I |
probably damaging |
Het |
Reg3b |
T |
C |
6: 78,350,215 (GRCm39) |
V165A |
probably benign |
Het |
Rreb1 |
A |
G |
13: 38,115,320 (GRCm39) |
D893G |
probably benign |
Het |
Sap18 |
A |
T |
14: 58,039,431 (GRCm39) |
M78L |
probably benign |
Het |
Scyl3 |
A |
T |
1: 163,782,245 (GRCm39) |
|
probably null |
Het |
Shoc2 |
A |
G |
19: 53,976,556 (GRCm39) |
M149V |
probably benign |
Het |
Slc7a2 |
G |
A |
8: 41,368,042 (GRCm39) |
R602K |
probably damaging |
Het |
Sox30 |
A |
G |
11: 45,882,694 (GRCm39) |
I575V |
possibly damaging |
Het |
Trim14 |
A |
T |
4: 46,507,134 (GRCm39) |
C361S |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,731,272 (GRCm39) |
|
probably benign |
Het |
Uncx |
A |
T |
5: 139,530,245 (GRCm39) |
K108* |
probably null |
Het |
Usp54 |
A |
T |
14: 20,600,501 (GRCm39) |
L1412Q |
probably damaging |
Het |
Uty |
A |
G |
Y: 1,245,614 (GRCm39) |
V6A |
possibly damaging |
Het |
Vmn1r30 |
C |
T |
6: 58,412,029 (GRCm39) |
V268I |
probably benign |
Het |
Wdsub1 |
T |
C |
2: 59,691,887 (GRCm39) |
|
probably benign |
Het |
Wipf3 |
A |
G |
6: 54,458,896 (GRCm39) |
I84V |
probably benign |
Het |
Xcr1 |
T |
A |
9: 123,685,631 (GRCm39) |
I44F |
probably benign |
Het |
Zfp687 |
T |
C |
3: 94,916,586 (GRCm39) |
|
probably benign |
Het |
Zfp729b |
A |
T |
13: 67,739,563 (GRCm39) |
S901T |
probably benign |
Het |
Zhx1 |
A |
T |
15: 57,915,819 (GRCm39) |
M809K |
probably damaging |
Het |
Zswim9 |
T |
C |
7: 12,994,753 (GRCm39) |
K468E |
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 |
|
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 |
|
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'- ATTACAAAGAGGAACTTCCCATAAC -3'
(R):5'- TCTTCAGGCCACAGACTTGG -3'
Sequencing Primer
(F):5'- AAATGGTGAGCCCCAGTTTC -3'
(R):5'- CACAGACTTGGCTGGAGTTCTAC -3'
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Posted On |
2016-09-01 |