Incidental Mutation 'R5665:Scaper'
| ID |
444346 |
| 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 |
043308-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R5665 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55714916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 791
(K791E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037408]
[ENSMUST00000214747]
[ENSMUST00000216595]
[ENSMUST00000217647]
|
| AlphaFold |
F8VQ70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037408
AA Change: K791E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: K791E
| 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: K785E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216595
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217647
AA Change: K791E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Acaca |
G |
T |
11: 84,136,120 (GRCm39) |
E492* |
probably null |
Het |
| Acp7 |
T |
A |
7: 28,315,968 (GRCm39) |
K206M |
probably benign |
Het |
| Agbl1 |
T |
A |
7: 76,239,251 (GRCm39) |
F584I |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,930,946 (GRCm39) |
I929V |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,238,357 (GRCm39) |
I1279V |
possibly damaging |
Het |
| Arl14 |
A |
C |
3: 69,130,371 (GRCm39) |
T173P |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,184,302 (GRCm39) |
S44P |
probably damaging |
Het |
| Btbd7 |
C |
A |
12: 102,751,456 (GRCm39) |
A1103S |
probably benign |
Het |
| Capn10 |
T |
A |
1: 92,865,653 (GRCm39) |
|
probably null |
Het |
| Capn7 |
T |
C |
14: 31,091,759 (GRCm39) |
F719L |
probably benign |
Het |
| Casp7 |
G |
A |
19: 56,429,414 (GRCm39) |
D267N |
probably benign |
Het |
| Ccdc13 |
C |
A |
9: 121,643,356 (GRCm39) |
K348N |
probably damaging |
Het |
| Chchd1 |
T |
C |
14: 20,753,178 (GRCm39) |
F13L |
probably benign |
Het |
| Clcn6 |
T |
A |
4: 148,099,018 (GRCm39) |
M442L |
possibly damaging |
Het |
| Col6a3 |
T |
C |
1: 90,755,602 (GRCm39) |
E229G |
probably benign |
Het |
| Cyb5r3 |
A |
G |
15: 83,038,755 (GRCm39) |
F278S |
probably damaging |
Het |
| Dhx16 |
C |
T |
17: 36,201,978 (GRCm39) |
Q1002* |
probably null |
Het |
| Dppa4 |
T |
C |
16: 48,111,378 (GRCm39) |
L121P |
probably benign |
Het |
| Dpyd |
A |
G |
3: 118,710,741 (GRCm39) |
E383G |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,853,900 (GRCm39) |
T489A |
probably benign |
Het |
| Elovl1 |
G |
T |
4: 118,288,832 (GRCm39) |
V174L |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,788,851 (GRCm39) |
K392E |
possibly damaging |
Het |
| Fancd2os |
C |
A |
6: 113,574,985 (GRCm39) |
W7L |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,759,991 (GRCm39) |
T23A |
possibly damaging |
Het |
| Gabrp |
C |
G |
11: 33,504,308 (GRCm39) |
A336P |
possibly damaging |
Het |
| Gcm2 |
T |
A |
13: 41,263,387 (GRCm39) |
Y15F |
possibly damaging |
Het |
| Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,372,717 (GRCm39) |
E3091G |
probably damaging |
Het |
| Homer1 |
A |
T |
13: 93,492,610 (GRCm39) |
M184L |
probably benign |
Het |
| Izumo1r |
T |
C |
9: 14,812,145 (GRCm39) |
E117G |
probably damaging |
Het |
| Kcnt1 |
C |
T |
2: 25,791,921 (GRCm39) |
Q590* |
probably null |
Het |
| Lama1 |
G |
T |
17: 68,077,982 (GRCm39) |
C1139F |
probably damaging |
Het |
| Med29 |
C |
T |
7: 28,086,239 (GRCm39) |
A190T |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,569,600 (GRCm39) |
V220A |
probably benign |
Het |
| Mxra8 |
G |
T |
4: 155,927,378 (GRCm39) |
V388L |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,051,463 (GRCm39) |
|
probably null |
Het |
| Myrip |
A |
G |
9: 120,290,499 (GRCm39) |
Y706C |
probably damaging |
Het |
| Nphp4 |
T |
C |
4: 152,590,942 (GRCm39) |
V313A |
probably benign |
Het |
| Oga |
A |
C |
19: 45,765,436 (GRCm39) |
S124A |
probably benign |
Het |
| Olfm2 |
T |
G |
9: 20,579,840 (GRCm39) |
|
probably null |
Het |
| Or10ag52 |
T |
A |
2: 87,044,072 (GRCm39) |
S279T |
probably benign |
Het |
| Or10x4 |
T |
C |
1: 174,218,941 (GRCm39) |
F102S |
probably damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,462,620 (GRCm39) |
P1398L |
probably damaging |
Het |
| Pdpr |
A |
G |
8: 111,841,443 (GRCm39) |
E225G |
possibly damaging |
Het |
| Pigs |
C |
A |
11: 78,219,595 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,658,755 (GRCm39) |
T159S |
probably damaging |
Het |
| Plk4 |
A |
G |
3: 40,768,021 (GRCm39) |
T87A |
possibly damaging |
Het |
| Plxna4 |
T |
C |
6: 32,192,657 (GRCm39) |
Y768C |
probably damaging |
Het |
| Prl3d3 |
T |
A |
13: 27,343,064 (GRCm39) |
|
probably null |
Het |
| Pygb |
T |
C |
2: 150,662,808 (GRCm39) |
|
probably null |
Het |
| Rnf114 |
T |
C |
2: 167,352,854 (GRCm39) |
I118T |
possibly damaging |
Het |
| Sbno2 |
A |
G |
10: 79,894,287 (GRCm39) |
L1099P |
probably benign |
Het |
| Serping1 |
T |
C |
2: 84,601,889 (GRCm39) |
T194A |
probably damaging |
Het |
| Slc12a9 |
A |
G |
5: 137,319,665 (GRCm39) |
S617P |
possibly damaging |
Het |
| Slk |
G |
A |
19: 47,624,896 (GRCm39) |
R1039H |
probably damaging |
Het |
| Sntb1 |
T |
A |
15: 55,655,535 (GRCm39) |
E227V |
probably benign |
Het |
| Sostdc1 |
C |
A |
12: 36,364,407 (GRCm39) |
P39T |
probably benign |
Het |
| Spred1 |
C |
T |
2: 116,983,486 (GRCm39) |
R16* |
probably null |
Het |
| Srpk2 |
A |
G |
5: 23,723,475 (GRCm39) |
I547T |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,670,610 (GRCm39) |
Y54H |
probably damaging |
Het |
| Stt3b |
A |
T |
9: 115,095,215 (GRCm39) |
L272H |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,154,991 (GRCm39) |
|
probably null |
Het |
| Uso1 |
A |
T |
5: 92,346,196 (GRCm39) |
E793V |
possibly damaging |
Het |
| Usp15 |
A |
T |
10: 122,966,892 (GRCm39) |
L476* |
probably null |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,336 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,763,938 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vps13a |
A |
T |
19: 16,646,054 (GRCm39) |
H1994Q |
probably damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,330,252 (GRCm39) |
S537P |
probably damaging |
Het |
| Zbtb12 |
T |
C |
17: 35,114,859 (GRCm39) |
S215P |
possibly damaging |
Het |
| Zfp346 |
T |
C |
13: 55,260,915 (GRCm39) |
M81T |
probably benign |
Het |
| Zfp800 |
T |
C |
6: 28,244,512 (GRCm39) |
D151G |
probably null |
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 |
|
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'- GGTACTTTGCACTGCCATTC -3'
(R):5'- AAGTTAGTGTCAAAGCAAGACTCTC -3'
Sequencing Primer
(F):5'- GGTACTTTGCACTGCCATTCCTAAC -3'
(R):5'- GAAAGTCTTTTTCCAAGTTCTTAGTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation