Incidental Mutation 'R5771:Scaper'
| ID |
445370 |
| 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 |
043371-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.713)
|
| Stock # |
R5771 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55724075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 628
(I628L)
|
| 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: I628L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: I628L
| 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: I622L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216595
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217647
AA Change: I628L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.4784 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
95% (87/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,241,411 (GRCm39) |
N1091K |
probably damaging |
Het |
| Adam3 |
C |
T |
8: 25,197,427 (GRCm39) |
V335I |
probably benign |
Het |
| AI504432 |
G |
A |
3: 106,956,299 (GRCm39) |
|
noncoding transcript |
Het |
| Apcdd1 |
A |
G |
18: 63,070,027 (GRCm39) |
Y98C |
probably damaging |
Het |
| Aqp9 |
C |
T |
9: 71,030,146 (GRCm39) |
A214T |
probably damaging |
Het |
| Atp8b4 |
T |
C |
2: 126,220,664 (GRCm39) |
D578G |
probably benign |
Het |
| Bcdin3d |
T |
C |
15: 99,368,717 (GRCm39) |
M161V |
probably benign |
Het |
| Bicral |
C |
T |
17: 47,136,284 (GRCm39) |
V309I |
possibly damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,831,203 (GRCm39) |
A580T |
probably benign |
Het |
| Cdhr2 |
T |
A |
13: 54,874,508 (GRCm39) |
V860E |
probably damaging |
Het |
| Clhc1 |
A |
T |
11: 29,513,854 (GRCm39) |
N302Y |
possibly damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,845,434 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,937,636 (GRCm39) |
N709S |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,826,328 (GRCm39) |
S512G |
probably benign |
Het |
| Dgcr8 |
C |
T |
16: 18,090,632 (GRCm39) |
V581I |
probably benign |
Het |
| Dnaaf10 |
A |
G |
11: 17,174,638 (GRCm39) |
T169A |
probably benign |
Het |
| Dnah7c |
G |
A |
1: 46,678,825 (GRCm39) |
V1790I |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,341,732 (GRCm39) |
K452E |
probably benign |
Het |
| Epb42 |
A |
C |
2: 120,852,301 (GRCm39) |
V564G |
probably damaging |
Het |
| Etv4 |
G |
A |
11: 101,662,282 (GRCm39) |
P335S |
probably damaging |
Het |
| Fbxw9 |
T |
A |
8: 85,791,201 (GRCm39) |
|
probably null |
Het |
| Fcrl2 |
A |
T |
3: 87,170,775 (GRCm39) |
L3Q |
probably damaging |
Het |
| Frmd8 |
C |
A |
19: 5,919,478 (GRCm39) |
A190S |
probably benign |
Het |
| Gcm2 |
C |
T |
13: 41,256,991 (GRCm39) |
D253N |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,342,895 (GRCm39) |
V143A |
probably benign |
Het |
| Gigyf2 |
T |
C |
1: 87,374,050 (GRCm39) |
M1226T |
possibly damaging |
Het |
| Gm10110 |
C |
T |
14: 90,134,675 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm20939 |
T |
G |
17: 95,181,767 (GRCm39) |
C55W |
possibly damaging |
Het |
| Gm5407 |
T |
A |
16: 49,117,229 (GRCm39) |
|
noncoding transcript |
Het |
| Golga4 |
A |
G |
9: 118,387,351 (GRCm39) |
E1491G |
probably damaging |
Het |
| Hdac11 |
T |
A |
6: 91,146,364 (GRCm39) |
|
probably null |
Het |
| Hs3st3b1 |
C |
T |
11: 63,780,098 (GRCm39) |
S343N |
probably benign |
Het |
| Igkv12-44 |
G |
A |
6: 69,792,075 (GRCm39) |
P4S |
probably benign |
Het |
| Igkv1-35 |
C |
T |
6: 69,988,231 (GRCm39) |
V22I |
probably benign |
Het |
| Kcns2 |
A |
T |
15: 34,839,068 (GRCm39) |
T144S |
probably benign |
Het |
| Khdc1c |
T |
C |
1: 21,439,266 (GRCm39) |
V84A |
possibly damaging |
Het |
| Kif4-ps |
T |
A |
12: 101,115,544 (GRCm39) |
|
noncoding transcript |
Het |
| Lamc2 |
T |
G |
1: 153,017,340 (GRCm39) |
Y549S |
probably benign |
Het |
| Lect2 |
T |
A |
13: 56,696,154 (GRCm39) |
I8F |
probably benign |
Het |
| Loxl3 |
T |
A |
6: 83,012,780 (GRCm39) |
|
probably null |
Het |
| Lrwd1 |
A |
T |
5: 136,152,516 (GRCm39) |
I545N |
possibly damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,797,572 (GRCm39) |
C437R |
probably damaging |
Het |
| Lypd3 |
T |
C |
7: 24,339,787 (GRCm39) |
S285P |
probably benign |
Het |
| Mast2 |
T |
A |
4: 116,190,622 (GRCm39) |
H83L |
possibly damaging |
Het |
| Mfsd4b4 |
A |
G |
10: 39,768,635 (GRCm39) |
F153L |
probably benign |
Het |
| Ms4a4b |
T |
A |
19: 11,438,606 (GRCm39) |
|
probably null |
Het |
| Nbr1 |
T |
A |
11: 101,450,364 (GRCm39) |
L41Q |
probably damaging |
Het |
| Nlrp4a |
G |
A |
7: 26,152,814 (GRCm39) |
C628Y |
probably damaging |
Het |
| Nup160 |
C |
T |
2: 90,553,740 (GRCm39) |
R1157C |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,891,533 (GRCm39) |
I7000F |
unknown |
Het |
| Or4k41 |
T |
A |
2: 111,280,406 (GRCm39) |
|
probably null |
Het |
| Or4p21 |
A |
T |
2: 88,276,652 (GRCm39) |
V210D |
possibly damaging |
Het |
| Or5ac15 |
TGAAGAAGAA |
TGAAGAA |
16: 58,940,335 (GRCm39) |
|
probably benign |
Het |
| Or5b122 |
T |
G |
19: 13,562,872 (GRCm39) |
V25G |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,546 (GRCm39) |
Y149F |
probably damaging |
Het |
| Pdilt |
T |
C |
7: 119,094,217 (GRCm39) |
K345E |
probably damaging |
Het |
| Ppp1r12b |
A |
T |
1: 134,701,162 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
A |
T |
9: 50,778,132 (GRCm39) |
Q219L |
probably damaging |
Het |
| Prim2 |
A |
G |
1: 33,493,232 (GRCm39) |
S485P |
unknown |
Het |
| Prkdc |
A |
G |
16: 15,482,097 (GRCm39) |
D380G |
probably damaging |
Het |
| Psmg1 |
A |
G |
16: 95,783,369 (GRCm39) |
L243S |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,685,061 (GRCm39) |
V270D |
probably benign |
Het |
| Rnft1 |
C |
T |
11: 86,384,032 (GRCm39) |
R311* |
probably null |
Het |
| Serpina3j |
C |
A |
12: 104,281,185 (GRCm39) |
H119Q |
possibly damaging |
Het |
| Slamf6 |
G |
A |
1: 171,745,341 (GRCm39) |
V23I |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,815,688 (GRCm39) |
M45K |
possibly damaging |
Het |
| Slc25a11 |
A |
C |
11: 70,537,016 (GRCm39) |
V13G |
probably damaging |
Het |
| Slc7a14 |
T |
A |
3: 31,292,856 (GRCm39) |
Y143F |
probably damaging |
Het |
| Spryd3 |
A |
G |
15: 102,025,342 (GRCm39) |
|
probably benign |
Het |
| Stard13 |
C |
A |
5: 151,113,476 (GRCm39) |
L28F |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Taf2 |
A |
G |
15: 54,923,335 (GRCm39) |
V314A |
probably benign |
Het |
| Tas2r106 |
T |
C |
6: 131,655,086 (GRCm39) |
N255S |
possibly damaging |
Het |
| Tbxa2r |
T |
A |
10: 81,168,775 (GRCm39) |
W155R |
probably damaging |
Het |
| Tcf3 |
A |
G |
10: 80,257,450 (GRCm39) |
|
probably benign |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Vmn2r55 |
T |
C |
7: 12,404,959 (GRCm39) |
D148G |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,461,235 (GRCm39) |
N854D |
probably benign |
Het |
| Vstm4 |
A |
T |
14: 32,626,526 (GRCm39) |
H64L |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,256,276 (GRCm39) |
T282A |
probably damaging |
Het |
| Zscan4c |
A |
T |
7: 10,743,574 (GRCm39) |
D391V |
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 |
|
|
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'- GCCTGAGATGTGAAAGGTGCTTAG -3'
(R):5'- CAGCCATGCATGTGTACATATAC -3'
Sequencing Primer
(F):5'- GTGCTTAGTAAATGCTGAGTAGAACC -3'
(R):5'- AGGACCTGGGTTCAAATTCC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation