Incidental Mutation 'R5265:Scaper'
| ID |
401663 |
| 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 |
042833-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.629)
|
| Stock # |
R5265 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55771830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 362
(V362A)
|
| 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: V362A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: V362A
| 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: V362A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216595
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217647
AA Change: V362A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0654 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
G |
9: 57,166,177 (GRCm39) |
W66R |
probably damaging |
Het |
| Adamts3 |
A |
G |
5: 90,009,411 (GRCm39) |
V84A |
possibly damaging |
Het |
| Caap1 |
C |
A |
4: 94,389,465 (GRCm39) |
E290* |
probably null |
Het |
| Cant1 |
G |
A |
11: 118,298,876 (GRCm39) |
R296C |
probably damaging |
Het |
| Cdh5 |
A |
T |
8: 104,869,371 (GRCm39) |
H699L |
probably benign |
Het |
| Cfdp1 |
T |
C |
8: 112,557,617 (GRCm39) |
T175A |
probably benign |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Comtd1 |
G |
A |
14: 21,898,861 (GRCm39) |
T27I |
probably benign |
Het |
| Copg1 |
T |
A |
6: 87,869,252 (GRCm39) |
V155D |
probably damaging |
Het |
| Dag1 |
A |
G |
9: 108,084,898 (GRCm39) |
Y748H |
possibly damaging |
Het |
| Dmwd |
T |
A |
7: 18,814,206 (GRCm39) |
N285K |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,379,159 (GRCm39) |
E1968G |
possibly damaging |
Het |
| Ednra |
A |
G |
8: 78,394,004 (GRCm39) |
I364T |
probably damaging |
Het |
| Elovl3 |
C |
A |
19: 46,123,120 (GRCm39) |
T232K |
probably damaging |
Het |
| Ercc3 |
T |
A |
18: 32,387,296 (GRCm39) |
I503N |
probably damaging |
Het |
| Ercc6 |
C |
A |
14: 32,291,580 (GRCm39) |
A1008D |
probably benign |
Het |
| Gm10563 |
TTTC |
TTTCATTC |
4: 155,698,953 (GRCm39) |
|
probably null |
Het |
| H2-DMb2 |
G |
T |
17: 34,367,536 (GRCm39) |
V117F |
probably damaging |
Het |
| Helt |
A |
T |
8: 46,745,470 (GRCm39) |
W138R |
probably damaging |
Het |
| Itga11 |
A |
T |
9: 62,644,694 (GRCm39) |
H215L |
probably benign |
Het |
| Kcnn1 |
T |
A |
8: 71,307,297 (GRCm39) |
I156F |
probably benign |
Het |
| Kdm1b |
A |
G |
13: 47,216,445 (GRCm39) |
N272D |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,016,651 (GRCm39) |
T1161A |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,633,378 (GRCm39) |
L102P |
probably damaging |
Het |
| Mlh1 |
A |
C |
9: 111,100,591 (GRCm39) |
M1R |
probably null |
Het |
| Naip2 |
G |
A |
13: 100,289,068 (GRCm39) |
L1165F |
probably damaging |
Het |
| Nfkbiz |
A |
G |
16: 55,640,004 (GRCm39) |
S118P |
probably damaging |
Het |
| Nkx3-2 |
T |
A |
5: 41,919,191 (GRCm39) |
M266L |
probably benign |
Het |
| Npr1 |
T |
C |
3: 90,364,309 (GRCm39) |
E771G |
probably benign |
Het |
| Obox8 |
C |
T |
7: 14,065,954 (GRCm39) |
R188H |
probably benign |
Het |
| Odad1 |
T |
A |
7: 45,596,859 (GRCm39) |
D395E |
probably damaging |
Het |
| Or5h19 |
A |
T |
16: 58,856,506 (GRCm39) |
V198D |
possibly damaging |
Het |
| Or5p72 |
T |
A |
7: 108,022,609 (GRCm39) |
V277E |
possibly damaging |
Het |
| Palm3 |
T |
C |
8: 84,748,159 (GRCm39) |
|
probably null |
Het |
| Palmd |
A |
T |
3: 116,717,498 (GRCm39) |
V333D |
possibly damaging |
Het |
| Pikfyve |
A |
G |
1: 65,306,988 (GRCm39) |
E1747G |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Ranbp3l |
T |
A |
15: 9,037,077 (GRCm39) |
F127I |
probably benign |
Het |
| Rsl1d1 |
A |
G |
16: 11,019,248 (GRCm39) |
F97L |
possibly damaging |
Het |
| Scg5 |
A |
T |
2: 113,607,210 (GRCm39) |
L192* |
probably null |
Het |
| Slc34a2 |
T |
C |
5: 53,218,776 (GRCm39) |
I198T |
probably damaging |
Het |
| Slc45a3 |
T |
A |
1: 131,905,932 (GRCm39) |
D318E |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 42,017,812 (GRCm39) |
M105T |
possibly damaging |
Het |
| St3gal5 |
T |
A |
6: 72,126,115 (GRCm39) |
I320N |
probably damaging |
Het |
| Stx17 |
A |
G |
4: 48,183,470 (GRCm39) |
|
probably benign |
Het |
| Syt5 |
C |
T |
7: 4,544,074 (GRCm39) |
|
probably null |
Het |
| Thrap3 |
A |
G |
4: 126,061,433 (GRCm39) |
S774P |
probably damaging |
Het |
| Tnc |
A |
T |
4: 63,911,443 (GRCm39) |
M1376K |
probably benign |
Het |
| Tnks1bp1 |
T |
A |
2: 84,893,098 (GRCm39) |
D1008E |
probably benign |
Het |
| Trav7-1 |
G |
T |
14: 52,892,761 (GRCm39) |
A105S |
probably damaging |
Het |
| Vmn1r28 |
T |
A |
6: 58,242,949 (GRCm39) |
V264D |
probably damaging |
Het |
| Vmn1r44 |
T |
C |
6: 89,870,821 (GRCm39) |
V46A |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 109,143,586 (GRCm39) |
I788T |
probably damaging |
Het |
| Vmn2r78 |
T |
A |
7: 86,569,332 (GRCm39) |
I75N |
probably damaging |
Het |
| Zfp821 |
T |
C |
8: 110,450,991 (GRCm39) |
M328T |
probably damaging |
Het |
| Zfp995 |
G |
A |
17: 22,099,604 (GRCm39) |
P210L |
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 |
|
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'- AACCTGTTCTGTAAGGCATGAG -3'
(R):5'- CAGACAGGTAAGTGCTCCTTC -3'
Sequencing Primer
(F):5'- GATTCCGATAAGTTGTTCTTACCCAG -3'
(R):5'- AGTGCTCCTTCACTTGATAGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation