Incidental Mutation 'R7356:Scaper'
| ID |
570975 |
| 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 |
045442-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.629)
|
| Stock # |
R7356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55799495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 190
(M190K)
|
| 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: M190K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: M190K
| 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: M190K
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000216595
AA Change: M190K
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217647
AA Change: M190K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
A |
T |
4: 49,383,507 (GRCm39) |
D15E |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,984,399 (GRCm39) |
T88I |
probably benign |
Het |
| Akap6 |
A |
C |
12: 52,958,647 (GRCm39) |
N801H |
probably damaging |
Het |
| Ankfn1 |
G |
T |
11: 89,325,599 (GRCm39) |
N524K |
probably damaging |
Het |
| Ap5s1 |
A |
G |
2: 131,054,582 (GRCm39) |
N131S |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 66,103,503 (GRCm39) |
D303E |
unknown |
Het |
| Babam1 |
T |
C |
8: 71,852,208 (GRCm39) |
V132A |
probably benign |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
CACTGGTT |
CACTGGTTCTATGGTGACTGGTT |
3: 95,795,495 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
TCTGTGGTCACTGGT |
TCTGTGGTCACTGGTCCTGTGGTCACTGGT |
3: 95,795,487 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GGTCACTGGTTCTGT |
GGTCACTGGTTCTGTAGTCACTGGTTCTGT |
3: 95,795,477 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GTTCTGTGGTCACTGGTTCTGTGGTCACTG |
GTTCTGTGGTCACTGCTTCTGTGGTCACTGGTTCTGTGGTCACTG |
3: 95,795,470 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
TGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC |
TGGTTCTGTGGTCACGGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC |
3: 95,795,453 (GRCm39) |
|
probably benign |
Het |
| Cnst |
C |
T |
1: 179,434,095 (GRCm39) |
P304S |
probably benign |
Het |
| Cog4 |
A |
T |
8: 111,576,498 (GRCm39) |
|
probably null |
Het |
| Cyp2j13 |
A |
T |
4: 95,965,655 (GRCm39) |
H17Q |
probably benign |
Het |
| Dock6 |
G |
A |
9: 21,721,195 (GRCm39) |
T1662I |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,044,443 (GRCm39) |
F270S |
probably damaging |
Het |
| Erbb4 |
A |
G |
1: 68,378,514 (GRCm39) |
|
probably null |
Het |
| Fam120b |
A |
T |
17: 15,627,958 (GRCm39) |
Q550L |
probably benign |
Het |
| Fam83b |
A |
T |
9: 76,400,135 (GRCm39) |
F323I |
probably benign |
Het |
| Far1 |
T |
A |
7: 113,167,349 (GRCm39) |
I478N |
possibly damaging |
Het |
| Gdpd5 |
T |
A |
7: 99,108,085 (GRCm39) |
I554N |
probably damaging |
Het |
| Glrx3 |
T |
C |
7: 137,054,453 (GRCm39) |
S79P |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,163,534 (GRCm39) |
I888T |
probably damaging |
Het |
| Hpx |
A |
G |
7: 105,240,917 (GRCm39) |
V452A |
probably damaging |
Het |
| Itk |
T |
G |
11: 46,258,659 (GRCm39) |
Q81P |
possibly damaging |
Het |
| Kdm6b |
G |
A |
11: 69,292,991 (GRCm39) |
Q1262* |
probably null |
Het |
| Lpcat2 |
T |
C |
8: 93,591,611 (GRCm39) |
V85A |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,622,947 (GRCm39) |
H1039L |
probably benign |
Het |
| Mapk3 |
T |
C |
7: 126,360,087 (GRCm39) |
|
probably null |
Het |
| Masp1 |
A |
T |
16: 23,288,993 (GRCm39) |
N602K |
possibly damaging |
Het |
| Myo7a |
T |
A |
7: 97,751,890 (GRCm39) |
Q40L |
probably benign |
Het |
| Nek1 |
A |
T |
8: 61,573,994 (GRCm39) |
M1081L |
probably benign |
Het |
| Nes |
T |
C |
3: 87,885,058 (GRCm39) |
S1106P |
possibly damaging |
Het |
| Nkpd1 |
A |
T |
7: 19,257,699 (GRCm39) |
I493F |
probably damaging |
Het |
| Npsr1 |
C |
G |
9: 24,009,557 (GRCm39) |
S21C |
probably benign |
Het |
| Oog1 |
G |
A |
12: 87,653,047 (GRCm39) |
|
probably null |
Het |
| Or11g1 |
G |
A |
14: 50,651,159 (GRCm39) |
V53M |
probably damaging |
Het |
| Or5g24-ps1 |
G |
A |
2: 85,463,782 (GRCm39) |
R3K |
probably benign |
Het |
| Or5k8 |
A |
T |
16: 58,644,718 (GRCm39) |
M118K |
probably damaging |
Het |
| Osbpl9 |
G |
T |
4: 108,925,677 (GRCm39) |
Y340* |
probably null |
Het |
| Pcyox1l |
A |
T |
18: 61,840,621 (GRCm39) |
L11Q |
probably null |
Het |
| Pdxdc1 |
G |
A |
16: 13,677,867 (GRCm39) |
R255C |
probably damaging |
Het |
| Pgap1 |
A |
G |
1: 54,569,293 (GRCm39) |
S358P |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,917,326 (GRCm39) |
Y481C |
possibly damaging |
Het |
| Plekhf1 |
T |
C |
7: 37,921,545 (GRCm39) |
T8A |
possibly damaging |
Het |
| Plg |
G |
T |
17: 12,629,798 (GRCm39) |
G611C |
probably damaging |
Het |
| Prf1 |
A |
C |
10: 61,139,059 (GRCm39) |
D339A |
possibly damaging |
Het |
| Prph |
A |
G |
15: 98,954,807 (GRCm39) |
Y291C |
probably damaging |
Het |
| Rasal1 |
A |
G |
5: 120,792,890 (GRCm39) |
S48G |
possibly damaging |
Het |
| Rigi |
A |
G |
4: 40,226,600 (GRCm39) |
S231P |
probably benign |
Het |
| Ripk4 |
T |
A |
16: 97,544,349 (GRCm39) |
Q766L |
probably damaging |
Het |
| Scaf1 |
T |
C |
7: 44,657,208 (GRCm39) |
D557G |
unknown |
Het |
| Scn8a |
A |
T |
15: 100,855,460 (GRCm39) |
I202F |
probably damaging |
Het |
| Siglecf |
A |
G |
7: 43,005,855 (GRCm39) |
I505V |
probably benign |
Het |
| Sirpb1c |
A |
G |
3: 15,886,297 (GRCm39) |
S360P |
probably benign |
Het |
| Sla2 |
C |
A |
2: 156,720,623 (GRCm39) |
|
probably null |
Het |
| Slc11a1 |
G |
T |
1: 74,424,648 (GRCm39) |
V544L |
probably benign |
Het |
| Slco1a5 |
T |
A |
6: 142,180,458 (GRCm39) |
K648I |
probably benign |
Het |
| Sorcs1 |
T |
A |
19: 50,163,595 (GRCm39) |
I1020F |
possibly damaging |
Het |
| Spen |
C |
A |
4: 141,199,235 (GRCm39) |
E3131* |
probably null |
Het |
| Sult2a7 |
A |
T |
7: 14,211,031 (GRCm39) |
W162R |
probably damaging |
Het |
| Sult3a1 |
G |
A |
10: 33,742,579 (GRCm39) |
E69K |
probably benign |
Het |
| Tcof1 |
G |
T |
18: 60,951,166 (GRCm39) |
D1119E |
unknown |
Het |
| Tom1l2 |
A |
T |
11: 60,139,853 (GRCm39) |
I272K |
probably damaging |
Het |
| Tspan5 |
C |
T |
3: 138,448,193 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,698,244 (GRCm39) |
L186P |
|
Het |
| Uap1l1 |
T |
C |
2: 25,251,696 (GRCm39) |
E496G |
possibly damaging |
Het |
| Ube2v1 |
A |
T |
2: 167,451,115 (GRCm39) |
I117N |
possibly damaging |
Het |
| Usp42 |
A |
G |
5: 143,702,842 (GRCm39) |
V593A |
possibly damaging |
Het |
| Virma |
T |
A |
4: 11,513,595 (GRCm39) |
I483N |
probably damaging |
Het |
| Vwde |
T |
A |
6: 13,192,641 (GRCm39) |
I421F |
probably damaging |
Het |
| Zfp345 |
G |
A |
2: 150,314,209 (GRCm39) |
H443Y |
probably damaging |
Het |
| Zfp760 |
A |
G |
17: 21,941,601 (GRCm39) |
T259A |
probably benign |
Het |
| Zfp941 |
T |
C |
7: 140,392,028 (GRCm39) |
I444V |
possibly damaging |
Het |
| Zfyve9 |
A |
C |
4: 108,576,212 (GRCm39) |
S290A |
probably benign |
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 |
|
|
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'- TTCTGAGCAGAAATTGGCGA -3'
(R):5'- CCATCAAAGATTGCTTGCTTGTTAGTG -3'
Sequencing Primer
(F):5'- AATTGGCGAGTACTTCCCAG -3'
(R):5'- TGCATGCAGAAGTTAGGATTTGACC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation