Incidental Mutation 'R7966:Scaper'
| ID |
650378 |
| 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 |
046009-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R7966 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55669611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 355
(V355A)
|
| 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: V848A
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: V848A
| 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: V842A
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216595
AA Change: V355A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217647
AA Change: V848A
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.1758 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,219,903 (GRCm39) |
I817L |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,573,939 (GRCm39) |
W1055R |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,781,923 (GRCm39) |
E318G |
probably benign |
Het |
| Arid3a |
A |
G |
10: 79,767,889 (GRCm39) |
T229A |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,858,580 (GRCm39) |
K247E |
possibly damaging |
Het |
| Cfap52 |
A |
T |
11: 67,844,571 (GRCm39) |
|
probably null |
Het |
| Ckap4 |
A |
G |
10: 84,363,449 (GRCm39) |
V538A |
probably damaging |
Het |
| Cped1 |
T |
C |
6: 22,059,953 (GRCm39) |
|
probably null |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cyp4v3 |
G |
T |
8: 45,785,954 (GRCm39) |
A21E |
probably benign |
Het |
| Cytip |
T |
C |
2: 58,037,944 (GRCm39) |
E140G |
probably damaging |
Het |
| D130043K22Rik |
A |
C |
13: 25,077,406 (GRCm39) |
Q1013P |
probably damaging |
Het |
| Dpp6 |
A |
G |
5: 27,928,370 (GRCm39) |
M763V |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,178,340 (GRCm39) |
Y193N |
probably damaging |
Het |
| Ghrhr |
T |
C |
6: 55,356,083 (GRCm39) |
W59R |
probably damaging |
Het |
| Hdac4 |
A |
G |
1: 91,861,402 (GRCm39) |
V1056A |
possibly damaging |
Het |
| Ipcef1 |
T |
C |
10: 6,850,668 (GRCm39) |
T312A |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,331,002 (GRCm39) |
|
probably null |
Het |
| Kif6 |
A |
G |
17: 49,993,453 (GRCm39) |
I182V |
probably damaging |
Het |
| Lcn3 |
A |
G |
2: 25,656,389 (GRCm39) |
K90E |
probably damaging |
Het |
| Lig3 |
T |
C |
11: 82,681,342 (GRCm39) |
S446P |
probably damaging |
Het |
| Ncln |
G |
A |
10: 81,326,103 (GRCm39) |
Q283* |
probably null |
Het |
| Nlrp4c |
A |
G |
7: 6,069,322 (GRCm39) |
T408A |
probably damaging |
Het |
| Oas1h |
T |
C |
5: 121,009,962 (GRCm39) |
F346L |
probably damaging |
Het |
| Olig2 |
AGCCGCCGCCGCCGCCGCAGCCGCCGCCGCCGC |
AGCCGCCGCCGCCGCAGCCGCCGCCGCCGC |
16: 91,023,962 (GRCm39) |
|
probably benign |
Het |
| Or2ad1 |
A |
T |
13: 21,326,356 (GRCm39) |
Y290* |
probably null |
Het |
| Or52b4 |
T |
C |
7: 102,184,623 (GRCm39) |
I223T |
probably damaging |
Het |
| Or52s1b |
A |
T |
7: 102,822,062 (GRCm39) |
F261I |
probably damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,536 (GRCm39) |
I246V |
probably benign |
Het |
| Pdcd1 |
A |
T |
1: 93,969,186 (GRCm39) |
V44E |
probably damaging |
Het |
| Prdm13 |
A |
T |
4: 21,679,932 (GRCm39) |
I186N |
unknown |
Het |
| Prpf4b |
A |
G |
13: 35,085,428 (GRCm39) |
D958G |
probably damaging |
Het |
| Prss59 |
A |
T |
6: 40,903,022 (GRCm39) |
Y117N |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,156,223 (GRCm39) |
N2792S |
probably damaging |
Het |
| Robo1 |
T |
A |
16: 72,780,760 (GRCm39) |
I830N |
possibly damaging |
Het |
| Scn3b |
C |
T |
9: 40,193,846 (GRCm39) |
A191V |
probably benign |
Het |
| Slc13a3 |
G |
C |
2: 165,272,155 (GRCm39) |
S296C |
probably benign |
Het |
| Slc6a16 |
T |
A |
7: 44,917,477 (GRCm39) |
I445N |
possibly damaging |
Het |
| Snrnp35 |
A |
G |
5: 124,628,565 (GRCm39) |
Y126C |
possibly damaging |
Het |
| Spock2 |
A |
G |
10: 59,957,554 (GRCm39) |
H98R |
possibly damaging |
Het |
| Sptssb |
A |
T |
3: 69,728,286 (GRCm39) |
Y50* |
probably null |
Het |
| Syne1 |
A |
G |
10: 5,066,965 (GRCm39) |
|
probably null |
Het |
| Tcf21 |
T |
C |
10: 22,695,706 (GRCm39) |
T33A |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,306,258 (GRCm39) |
F57L |
probably damaging |
Het |
| Tgs1 |
C |
A |
4: 3,586,215 (GRCm39) |
P364H |
probably benign |
Het |
| Tmem242 |
A |
G |
17: 5,461,711 (GRCm39) |
I119T |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Vmn2r3 |
T |
A |
3: 64,186,235 (GRCm39) |
N150I |
probably damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,060,762 (GRCm39) |
I274T |
possibly damaging |
Het |
| Vwf |
T |
A |
6: 125,616,304 (GRCm39) |
L1206* |
probably null |
Het |
| Zfp157 |
T |
A |
5: 138,445,833 (GRCm39) |
W63R |
probably benign |
Het |
| Zfp455 |
T |
C |
13: 67,347,302 (GRCm39) |
Y10H |
probably benign |
Het |
| Zfp654 |
T |
C |
16: 64,605,239 (GRCm39) |
T447A |
probably damaging |
Het |
| Zhx2 |
T |
C |
15: 57,685,063 (GRCm39) |
I144T |
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 |
|
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'- GGGAGGGTTTTGGATCAATACTCAG -3'
(R):5'- GTGAAAGCCATTATTGCCTGGG -3'
Sequencing Primer
(F):5'- AGTGGCTATAAATTAGGTTCATTGG -3'
(R):5'- GAAAGCCATTATTGCCTGGGATTAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation