Incidental Mutation 'R2102:Scaper'
| ID |
230585 |
| 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 |
040106-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R2102 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55819334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 127
(V127E)
|
| 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: V127E
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: V127E
| 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: V127E
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000216595
AA Change: V127E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217647
AA Change: V127E
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,770,934 (GRCm39) |
L41P |
probably damaging |
Het |
| Abca8a |
G |
T |
11: 109,958,878 (GRCm39) |
P749T |
probably damaging |
Het |
| Acad8 |
A |
T |
9: 26,896,861 (GRCm39) |
Y199* |
probably null |
Het |
| Acot12 |
A |
T |
13: 91,908,096 (GRCm39) |
I93L |
probably benign |
Het |
| Acsbg3 |
T |
A |
17: 57,191,949 (GRCm39) |
Y542* |
probably null |
Het |
| Actn1 |
C |
A |
12: 80,230,291 (GRCm39) |
R321L |
probably benign |
Het |
| Ap3s1 |
A |
G |
18: 46,887,469 (GRCm39) |
E34G |
possibly damaging |
Het |
| Armh4 |
A |
G |
14: 50,011,459 (GRCm39) |
Y83H |
probably damaging |
Het |
| Atp5f1a |
T |
C |
18: 77,870,017 (GRCm39) |
S533P |
probably damaging |
Het |
| Bcorl1 |
T |
C |
X: 47,458,081 (GRCm39) |
V538A |
probably benign |
Het |
| Cdhr4 |
A |
G |
9: 107,875,206 (GRCm39) |
T689A |
probably damaging |
Het |
| Cdk19 |
A |
T |
10: 40,355,726 (GRCm39) |
|
probably benign |
Het |
| Cobll1 |
G |
T |
2: 64,928,554 (GRCm39) |
P923Q |
probably damaging |
Het |
| Cpt1a |
T |
C |
19: 3,421,585 (GRCm39) |
S456P |
probably benign |
Het |
| Cst11 |
T |
C |
2: 148,613,160 (GRCm39) |
Y55C |
probably damaging |
Het |
| Ctif |
T |
G |
18: 75,654,452 (GRCm39) |
D358A |
probably benign |
Het |
| Cyp2d34 |
T |
G |
15: 82,500,974 (GRCm39) |
E386A |
probably benign |
Het |
| Dcxr |
A |
G |
11: 120,617,133 (GRCm39) |
F104L |
probably benign |
Het |
| Dmbt1 |
G |
T |
7: 130,703,762 (GRCm39) |
W1107C |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,466,830 (GRCm39) |
I567F |
probably damaging |
Het |
| Ednrb |
T |
A |
14: 104,058,350 (GRCm39) |
R318* |
probably null |
Het |
| Exd2 |
T |
C |
12: 80,527,377 (GRCm39) |
I36T |
possibly damaging |
Het |
| Fam83b |
A |
T |
9: 76,399,987 (GRCm39) |
I372N |
probably damaging |
Het |
| Fbh1 |
A |
G |
2: 11,763,100 (GRCm39) |
V518A |
probably benign |
Het |
| Fkbp5 |
T |
C |
17: 28,625,162 (GRCm39) |
E308G |
possibly damaging |
Het |
| Foxl2 |
A |
C |
9: 98,838,282 (GRCm39) |
Y190S |
probably damaging |
Het |
| Gab3 |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 74,043,585 (GRCm39) |
|
probably benign |
Het |
| Galnt17 |
C |
T |
5: 131,114,831 (GRCm39) |
R223Q |
probably damaging |
Het |
| Gm14496 |
G |
A |
2: 181,633,127 (GRCm39) |
D37N |
possibly damaging |
Het |
| Gpr82 |
T |
C |
X: 13,532,274 (GRCm39) |
V274A |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,566 (GRCm39) |
N292S |
probably damaging |
Het |
| Ints1 |
C |
T |
5: 139,741,754 (GRCm39) |
V1826M |
possibly damaging |
Het |
| Itgb4 |
A |
G |
11: 115,896,561 (GRCm39) |
D1440G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,963,200 (GRCm39) |
D1552G |
probably damaging |
Het |
| Kel |
G |
A |
6: 41,663,418 (GRCm39) |
T702I |
possibly damaging |
Het |
| Klf3 |
T |
C |
5: 64,979,266 (GRCm39) |
V36A |
probably damaging |
Het |
| Klhl23 |
A |
T |
2: 69,659,228 (GRCm39) |
I418F |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,510,674 (GRCm39) |
I1329L |
probably benign |
Het |
| Krtap2-4 |
T |
C |
11: 99,505,606 (GRCm39) |
|
probably benign |
Het |
| Krtap9-5 |
T |
A |
11: 99,840,270 (GRCm39) |
C324S |
unknown |
Het |
| Lepr |
T |
C |
4: 101,630,178 (GRCm39) |
V631A |
possibly damaging |
Het |
| Lifr |
T |
C |
15: 7,216,404 (GRCm39) |
I793T |
probably damaging |
Het |
| Mcoln1 |
G |
A |
8: 3,561,731 (GRCm39) |
R427H |
probably damaging |
Het |
| Mgat5b |
G |
A |
11: 116,810,255 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
G |
A |
9: 7,349,802 (GRCm39) |
V78M |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,634 (GRCm39) |
L102M |
possibly damaging |
Het |
| Mybphl |
A |
G |
3: 108,282,949 (GRCm39) |
T246A |
possibly damaging |
Het |
| Myo7b |
A |
T |
18: 32,133,031 (GRCm39) |
F439L |
probably damaging |
Het |
| Myom1 |
A |
T |
17: 71,408,024 (GRCm39) |
D1088V |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,623,471 (GRCm39) |
F1004S |
probably benign |
Het |
| Palld |
A |
T |
8: 61,986,467 (GRCm39) |
M788K |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,234,465 (GRCm39) |
Y1423* |
probably null |
Het |
| Pfkm |
A |
G |
15: 98,027,171 (GRCm39) |
K615E |
probably damaging |
Het |
| Pkd1l2 |
G |
T |
8: 117,808,208 (GRCm39) |
D105E |
probably damaging |
Het |
| Plekha5 |
G |
A |
6: 140,518,603 (GRCm39) |
A297T |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,944,810 (GRCm39) |
M2051K |
probably damaging |
Het |
| Ppp6r2 |
A |
G |
15: 89,162,949 (GRCm39) |
T524A |
probably damaging |
Het |
| Psg26 |
T |
C |
7: 18,209,067 (GRCm39) |
E447G |
probably damaging |
Het |
| Rab3gap2 |
A |
G |
1: 185,014,586 (GRCm39) |
D1225G |
probably benign |
Het |
| Rep15 |
A |
G |
6: 146,934,403 (GRCm39) |
|
probably null |
Het |
| Rgl2 |
G |
A |
17: 34,152,314 (GRCm39) |
|
probably null |
Het |
| Rpl7a |
T |
G |
2: 26,801,473 (GRCm39) |
V55G |
possibly damaging |
Het |
| Rtp1 |
A |
T |
16: 23,250,108 (GRCm39) |
I158F |
probably benign |
Het |
| Sele |
T |
A |
1: 163,881,395 (GRCm39) |
C501S |
probably damaging |
Het |
| Serpina11 |
C |
T |
12: 103,949,104 (GRCm39) |
V358I |
probably benign |
Het |
| Slc16a4 |
A |
G |
3: 107,211,819 (GRCm39) |
|
probably null |
Het |
| Slco6c1 |
T |
C |
1: 97,055,656 (GRCm39) |
I82V |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 81,431,304 (GRCm39) |
E971G |
probably damaging |
Het |
| Smr2 |
T |
C |
5: 88,256,595 (GRCm39) |
L91P |
probably damaging |
Het |
| Spata31f3 |
T |
A |
4: 42,868,558 (GRCm39) |
H355L |
probably benign |
Het |
| Spopfm2 |
A |
T |
3: 94,082,973 (GRCm39) |
C279* |
probably null |
Het |
| Srrm2 |
A |
G |
17: 24,036,722 (GRCm39) |
|
probably benign |
Het |
| Sting1 |
A |
T |
18: 35,868,290 (GRCm39) |
M270K |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,006,514 (GRCm39) |
W7980R |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,074,853 (GRCm39) |
T4598A |
probably benign |
Het |
| Tmem171 |
A |
T |
13: 98,828,851 (GRCm39) |
F100I |
probably damaging |
Het |
| Tnfrsf10b |
A |
G |
14: 70,013,546 (GRCm39) |
T159A |
probably benign |
Het |
| Tph1 |
A |
T |
7: 46,309,834 (GRCm39) |
|
probably null |
Het |
| Trim46 |
A |
T |
3: 89,142,504 (GRCm39) |
I638N |
probably damaging |
Het |
| Ubl7 |
G |
A |
9: 57,827,825 (GRCm39) |
D171N |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,608,779 (GRCm39) |
Y1514H |
probably damaging |
Het |
| Vmn2r81 |
A |
G |
10: 79,129,334 (GRCm39) |
I742V |
probably damaging |
Het |
| Xrcc2 |
A |
T |
5: 25,897,505 (GRCm39) |
V148E |
probably damaging |
Het |
| Zbed3 |
A |
G |
13: 95,472,615 (GRCm39) |
D13G |
possibly damaging |
Het |
| Zdhhc25 |
T |
A |
15: 88,484,962 (GRCm39) |
L99Q |
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 |
|
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 |
|
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'- ATGTCAATCTTGGAGCAGGGG -3'
(R):5'- GCTAGAAGCCTTTTACTTGCC -3'
Sequencing Primer
(F):5'- CAGGGGTTAAAAGAACAATCCTC -3'
(R):5'- AAGCCTTTTACTTGCCTTTTTAATGG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation