Incidental Mutation 'R4665:Scaper'
| ID |
351843 |
| 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 |
041923-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.629)
|
| Stock # |
R4665 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55819339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 125
(S125R)
|
| 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: S125R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: S125R
| 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: S125R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000216595
AA Change: S125R
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217647
AA Change: S125R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.2415 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (89/90) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
A |
6: 86,902,059 (GRCm39) |
M76K |
probably null |
Het |
| Abcc4 |
A |
G |
14: 118,766,414 (GRCm39) |
I886T |
probably benign |
Het |
| Adam6a |
T |
C |
12: 113,507,992 (GRCm39) |
Y122H |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,787,947 (GRCm39) |
T905A |
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,827,312 (GRCm39) |
F969L |
possibly damaging |
Het |
| Arhgef4 |
G |
T |
1: 34,845,113 (GRCm39) |
G1439V |
possibly damaging |
Het |
| Atm |
A |
G |
9: 53,375,529 (GRCm39) |
W2097R |
probably benign |
Het |
| Atmin |
A |
G |
8: 117,684,698 (GRCm39) |
D786G |
probably damaging |
Het |
| AU016765 |
T |
A |
17: 64,826,916 (GRCm39) |
|
noncoding transcript |
Het |
| Capn1 |
A |
T |
19: 6,061,045 (GRCm39) |
N253K |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,972,130 (GRCm39) |
T527A |
probably damaging |
Het |
| Chmp7 |
A |
T |
14: 69,958,404 (GRCm39) |
V255D |
probably damaging |
Het |
| Cldn12 |
A |
G |
5: 5,558,385 (GRCm39) |
F14S |
probably damaging |
Het |
| Cpsf2 |
T |
C |
12: 101,949,466 (GRCm39) |
S61P |
probably damaging |
Het |
| Cpvl |
C |
T |
6: 53,908,918 (GRCm39) |
E282K |
probably benign |
Het |
| Crygn |
T |
A |
5: 24,956,019 (GRCm39) |
|
probably benign |
Het |
| Csde1 |
C |
T |
3: 102,954,388 (GRCm39) |
T386M |
probably damaging |
Het |
| Cux1 |
G |
A |
5: 136,315,653 (GRCm39) |
T1129I |
probably damaging |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Dhx16 |
T |
C |
17: 36,190,835 (GRCm39) |
V11A |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,905,536 (GRCm39) |
M4060T |
possibly damaging |
Het |
| Duox1 |
C |
T |
2: 122,149,956 (GRCm39) |
P116S |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,084,793 (GRCm39) |
E880G |
probably damaging |
Het |
| Eml6 |
A |
T |
11: 29,769,007 (GRCm39) |
Y67* |
probably null |
Het |
| Faim2 |
C |
A |
15: 99,422,581 (GRCm39) |
|
probably null |
Het |
| Faim2 |
T |
G |
15: 99,422,582 (GRCm39) |
S72R |
probably benign |
Het |
| Fanca |
T |
C |
8: 123,995,711 (GRCm39) |
T1364A |
probably damaging |
Het |
| Fhip1a |
A |
T |
3: 85,637,988 (GRCm39) |
W104R |
probably damaging |
Het |
| Gak |
A |
G |
5: 108,730,826 (GRCm39) |
I860T |
probably benign |
Het |
| Garem2 |
C |
A |
5: 30,319,665 (GRCm39) |
R376S |
probably damaging |
Het |
| Gdf2 |
A |
G |
14: 33,667,408 (GRCm39) |
T377A |
probably damaging |
Het |
| Gm2431 |
A |
T |
7: 141,811,440 (GRCm39) |
C155S |
unknown |
Het |
| Gm5814 |
A |
G |
17: 47,721,288 (GRCm39) |
M1V |
probably null |
Het |
| Gm5901 |
C |
G |
7: 105,026,438 (GRCm39) |
Q69E |
possibly damaging |
Het |
| Gm9945 |
A |
G |
11: 53,371,202 (GRCm39) |
|
probably benign |
Het |
| Gmps |
T |
C |
3: 63,908,956 (GRCm39) |
V486A |
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,412,756 (GRCm39) |
E55V |
probably damaging |
Het |
| Hoxa11 |
T |
A |
6: 52,220,483 (GRCm39) |
N267Y |
probably damaging |
Het |
| Ifngr2 |
C |
A |
16: 91,356,926 (GRCm39) |
H153Q |
possibly damaging |
Het |
| Ift172 |
G |
T |
5: 31,442,598 (GRCm39) |
Q190K |
possibly damaging |
Het |
| Iqch |
A |
G |
9: 63,352,853 (GRCm39) |
V899A |
probably damaging |
Het |
| Lactb2 |
T |
C |
1: 13,717,624 (GRCm39) |
E133G |
probably damaging |
Het |
| Lig3 |
G |
A |
11: 82,691,076 (GRCm39) |
V110M |
probably damaging |
Het |
| Lin54 |
C |
A |
5: 100,600,943 (GRCm39) |
Q262H |
possibly damaging |
Het |
| Lingo3 |
G |
A |
10: 80,671,372 (GRCm39) |
T186I |
probably damaging |
Het |
| Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
| Ly86 |
T |
A |
13: 37,559,010 (GRCm39) |
F70I |
probably damaging |
Het |
| Mospd2 |
A |
T |
X: 163,730,329 (GRCm39) |
S301T |
probably benign |
Het |
| Mroh2a |
A |
C |
1: 88,169,340 (GRCm39) |
I672L |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,395,705 (GRCm39) |
|
probably null |
Het |
| Nme8 |
C |
G |
13: 19,858,605 (GRCm39) |
A78P |
probably damaging |
Het |
| Obscn |
C |
T |
11: 59,015,578 (GRCm39) |
V965M |
probably damaging |
Het |
| Or10ag57 |
T |
A |
2: 87,218,220 (GRCm39) |
I57K |
probably damaging |
Het |
| Parn |
T |
C |
16: 13,358,967 (GRCm39) |
K592E |
probably benign |
Het |
| Pax6 |
C |
A |
2: 105,514,343 (GRCm39) |
|
probably benign |
Het |
| Pdcd6 |
A |
T |
13: 74,465,325 (GRCm39) |
M1K |
probably null |
Het |
| Pex11b |
T |
C |
3: 96,551,151 (GRCm39) |
L198P |
possibly damaging |
Het |
| Phldb3 |
C |
T |
7: 24,310,852 (GRCm39) |
A28V |
probably benign |
Het |
| Pkn3 |
C |
A |
2: 29,975,469 (GRCm39) |
|
probably benign |
Het |
| Pknox1 |
T |
C |
17: 31,814,300 (GRCm39) |
|
probably null |
Het |
| Ptprg |
A |
C |
14: 12,215,288 (GRCm38) |
I1092L |
possibly damaging |
Het |
| Pxylp1 |
A |
C |
9: 96,707,338 (GRCm39) |
I281M |
probably damaging |
Het |
| Ramac |
C |
T |
7: 81,418,178 (GRCm39) |
R78W |
probably damaging |
Het |
| Retreg2 |
G |
T |
1: 75,121,310 (GRCm39) |
L195F |
probably damaging |
Het |
| Rgs20 |
G |
C |
1: 5,091,231 (GRCm39) |
F66L |
probably benign |
Het |
| Ripk4 |
C |
T |
16: 97,556,273 (GRCm39) |
V157I |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,765,571 (GRCm39) |
|
probably null |
Het |
| Sec16a |
C |
T |
2: 26,302,970 (GRCm39) |
|
probably benign |
Het |
| Slc35f6 |
T |
C |
5: 30,812,957 (GRCm39) |
L37P |
probably damaging |
Het |
| Slc6a12 |
T |
A |
6: 121,335,972 (GRCm39) |
|
probably benign |
Het |
| Slc9a5 |
A |
G |
8: 106,094,760 (GRCm39) |
K784E |
probably damaging |
Het |
| Snd1 |
T |
C |
6: 28,707,053 (GRCm39) |
V455A |
probably damaging |
Het |
| Ssbp2 |
A |
T |
13: 91,687,454 (GRCm39) |
I46L |
possibly damaging |
Het |
| Stil |
A |
G |
4: 114,898,841 (GRCm39) |
D1157G |
probably benign |
Het |
| Tax1bp1 |
T |
A |
6: 52,714,116 (GRCm39) |
C271S |
probably benign |
Het |
| Tdpoz6 |
G |
A |
3: 93,599,776 (GRCm39) |
H198Y |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,935,007 (GRCm39) |
M2014L |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,504,012 (GRCm39) |
I381F |
possibly damaging |
Het |
| Thsd7a |
T |
A |
6: 12,337,313 (GRCm39) |
T1235S |
possibly damaging |
Het |
| Tmprss11d |
T |
C |
5: 86,457,260 (GRCm39) |
D133G |
probably damaging |
Het |
| Tpr |
C |
T |
1: 150,320,150 (GRCm39) |
R2233W |
probably damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vgll1 |
A |
G |
X: 56,137,792 (GRCm39) |
R54G |
possibly damaging |
Het |
| Wdr72 |
A |
G |
9: 74,117,306 (GRCm39) |
T673A |
probably benign |
Het |
| Zfp169 |
C |
T |
13: 48,644,339 (GRCm39) |
|
probably benign |
Het |
| Zfp319 |
G |
A |
8: 96,052,201 (GRCm39) |
|
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 |
|
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'- TCAATCTTGGAGCAGGGGTTAAAAG -3'
(R):5'- GCTAGAAGCCTTTTACTTGCC -3'
Sequencing Primer
(F):5'- CAGGGGTTAAAAGAACAATCCTC -3'
(R):5'- AAGCCTTTTACTTGCCTTTTTAATGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation