Incidental Mutation 'R4606:Scaper'
ID |
346026 |
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 |
041817-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.629)
|
Stock # |
R4606 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 55563187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037408]
[ENSMUST00000037408]
[ENSMUST00000214747]
[ENSMUST00000216595]
[ENSMUST00000217647]
|
AlphaFold |
F8VQ70 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037408
|
SMART Domains |
Protein: ENSMUSP00000043411 Gene: ENSMUSG00000034007
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 null
Transcript: ENSMUST00000037408
|
SMART Domains |
Protein: ENSMUSP00000043411 Gene: ENSMUSG00000034007
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 null
Transcript: ENSMUST00000214747
|
Predicted Effect |
probably null
Transcript: ENSMUST00000216595
|
Predicted Effect |
probably null
Transcript: ENSMUST00000217647
|
Meta Mutation Damage Score |
0.9481 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
96% (69/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
A |
T |
8: 79,937,374 (GRCm39) |
W178R |
probably benign |
Het |
Abcb5 |
T |
C |
12: 118,896,345 (GRCm39) |
|
probably null |
Het |
Akr1b1 |
C |
A |
6: 34,283,599 (GRCm39) |
|
probably benign |
Het |
Arid1a |
A |
G |
4: 133,414,634 (GRCm39) |
F1199S |
unknown |
Het |
Atp4b |
A |
G |
8: 13,439,998 (GRCm39) |
F116S |
probably damaging |
Het |
Atp6v1b1 |
T |
C |
6: 83,729,443 (GRCm39) |
S127P |
probably damaging |
Het |
Blk |
C |
T |
14: 63,611,652 (GRCm39) |
V428I |
probably benign |
Het |
Ccser1 |
T |
C |
6: 61,288,568 (GRCm39) |
S244P |
probably damaging |
Het |
Ceacam1 |
T |
A |
7: 25,173,951 (GRCm39) |
I235F |
probably damaging |
Het |
Cyp2g1 |
T |
A |
7: 26,513,579 (GRCm39) |
Y173N |
possibly damaging |
Het |
Ddr2 |
T |
A |
1: 169,829,421 (GRCm39) |
I278F |
probably benign |
Het |
Degs1 |
T |
C |
1: 182,104,388 (GRCm39) |
D299G |
probably damaging |
Het |
Dip2b |
G |
A |
15: 100,113,210 (GRCm39) |
V1542I |
possibly damaging |
Het |
Dmxl1 |
T |
A |
18: 50,095,248 (GRCm39) |
S2942R |
probably damaging |
Het |
Dpf1 |
T |
A |
7: 29,016,015 (GRCm39) |
|
probably benign |
Het |
Ephb6 |
A |
G |
6: 41,593,508 (GRCm39) |
Y518C |
probably benign |
Het |
Eps15l1 |
A |
T |
8: 73,127,760 (GRCm39) |
F606I |
possibly damaging |
Het |
Extl1 |
A |
G |
4: 134,098,690 (GRCm39) |
S114P |
probably damaging |
Het |
Extl1 |
A |
C |
4: 134,098,691 (GRCm39) |
D113E |
probably benign |
Het |
Fat1 |
T |
C |
8: 45,403,720 (GRCm39) |
V157A |
possibly damaging |
Het |
Fcho1 |
A |
T |
8: 72,165,124 (GRCm39) |
D444E |
probably benign |
Het |
Fgd3 |
T |
A |
13: 49,450,036 (GRCm39) |
D71V |
probably damaging |
Het |
Fgd5 |
T |
A |
6: 91,965,190 (GRCm39) |
D316E |
possibly damaging |
Het |
Gys2 |
A |
T |
6: 142,400,210 (GRCm39) |
F334I |
possibly damaging |
Het |
Ik |
G |
T |
18: 36,886,608 (GRCm39) |
R360L |
possibly damaging |
Het |
Kazn |
A |
C |
4: 141,845,599 (GRCm39) |
|
probably null |
Het |
Kmt2d |
A |
T |
15: 98,737,597 (GRCm39) |
|
probably benign |
Het |
Krr1 |
T |
C |
10: 111,811,582 (GRCm39) |
|
probably benign |
Het |
Krt87 |
C |
T |
15: 101,384,930 (GRCm39) |
E389K |
probably benign |
Het |
Lrrc4c |
T |
C |
2: 97,460,658 (GRCm39) |
V428A |
probably benign |
Het |
Lvrn |
C |
A |
18: 46,997,832 (GRCm39) |
T260K |
possibly damaging |
Het |
Mcc |
C |
T |
18: 44,601,488 (GRCm39) |
E614K |
probably damaging |
Het |
Msrb3 |
A |
T |
10: 120,685,902 (GRCm39) |
V81D |
probably damaging |
Het |
Muc19 |
C |
T |
15: 91,832,268 (GRCm39) |
|
noncoding transcript |
Het |
Myadm |
T |
A |
7: 3,345,916 (GRCm39) |
L226* |
probably null |
Het |
Myof |
C |
T |
19: 37,955,547 (GRCm39) |
V526M |
probably damaging |
Het |
Nckap5l |
A |
G |
15: 99,327,204 (GRCm39) |
|
probably benign |
Het |
Or1r1 |
A |
G |
11: 73,874,718 (GRCm39) |
S239P |
probably damaging |
Het |
Or4b1 |
G |
T |
2: 89,979,160 (GRCm39) |
|
probably benign |
Het |
Or4c35 |
C |
A |
2: 89,808,350 (GRCm39) |
A76D |
possibly damaging |
Het |
Or9g10 |
T |
A |
2: 85,584,284 (GRCm39) |
|
probably benign |
Het |
Pars2 |
T |
C |
4: 106,511,247 (GRCm39) |
V307A |
probably benign |
Het |
Pcdhb1 |
T |
G |
18: 37,398,581 (GRCm39) |
Y177* |
probably null |
Het |
Pcdhb4 |
T |
A |
18: 37,441,705 (GRCm39) |
D338E |
probably damaging |
Het |
Pik3r2 |
G |
A |
8: 71,224,780 (GRCm39) |
R199* |
probably null |
Het |
Pla2g4f |
C |
T |
2: 120,144,467 (GRCm39) |
R24Q |
probably benign |
Het |
Pnma2 |
T |
C |
14: 67,153,681 (GRCm39) |
I35T |
probably benign |
Het |
Podn |
C |
A |
4: 107,875,064 (GRCm39) |
A568S |
probably benign |
Het |
Pou3f1 |
A |
T |
4: 124,552,629 (GRCm39) |
E377V |
probably damaging |
Het |
Ppfia1 |
T |
C |
7: 144,038,929 (GRCm39) |
D494G |
probably damaging |
Het |
Pramel34 |
A |
T |
5: 93,784,461 (GRCm39) |
D137E |
probably damaging |
Het |
Ptpn9 |
A |
T |
9: 56,929,495 (GRCm39) |
T71S |
possibly damaging |
Het |
Ptprz1 |
C |
T |
6: 23,001,486 (GRCm39) |
P1192L |
possibly damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rnf217 |
T |
A |
10: 31,393,472 (GRCm39) |
K370* |
probably null |
Het |
Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
Sos2 |
T |
C |
12: 69,661,380 (GRCm39) |
|
probably benign |
Het |
Sptbn5 |
C |
T |
2: 119,897,927 (GRCm39) |
|
probably null |
Het |
Sumo1 |
A |
G |
1: 59,683,668 (GRCm39) |
|
probably benign |
Het |
Syne2 |
C |
A |
12: 76,036,027 (GRCm39) |
N3771K |
probably damaging |
Het |
Tbx18 |
T |
C |
9: 87,612,822 (GRCm39) |
I26V |
possibly damaging |
Het |
Trpm3 |
T |
A |
19: 22,955,988 (GRCm39) |
M1140K |
probably benign |
Het |
Usp29 |
G |
A |
7: 6,966,356 (GRCm39) |
|
probably null |
Het |
Wdr7 |
C |
T |
18: 63,913,016 (GRCm39) |
Q946* |
probably null |
Het |
Ythdf1 |
T |
C |
2: 180,553,975 (GRCm39) |
D46G |
probably damaging |
Het |
Zfp217 |
T |
C |
2: 169,961,670 (GRCm39) |
N219S |
possibly damaging |
Het |
Zkscan3 |
A |
G |
13: 21,577,953 (GRCm39) |
I256T |
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 |
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'- TGAGAGATTTCACTTCCAGTTCC -3'
(R):5'- TAGACTAGCTTCCATCTCATGC -3'
Sequencing Primer
(F):5'- AGAGATTTCACTTCCAGTTCCTATTG -3'
(R):5'- TTAAACTGTTGGGAGAATAGTTGC -3'
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Posted On |
2015-09-25 |