Incidental Mutation 'R8351:Scaper'
ID 645524
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 067804-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.629) question?
Stock # R8351 (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 55724088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 623 (N623K)
Ref Sequence ENSEMBL: ENSMUSP00000043411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037408] [ENSMUST00000214747] [ENSMUST00000216595] [ENSMUST00000217647]
AlphaFold F8VQ70
Predicted Effect possibly damaging
Transcript: ENSMUST00000037408
AA Change: N623K

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: N623K

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000214747
AA Change: N617K

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000216595
Predicted Effect possibly damaging
Transcript: ENSMUST00000217647
AA Change: N623K

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.1761 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik G A 5: 138,561,188 (GRCm39) T158M probably benign Het
Acss3 T C 10: 106,885,265 (GRCm39) H242R probably damaging Het
Ago2 G T 15: 73,002,739 (GRCm39) D164E probably damaging Het
Arl2bp G A 8: 95,393,507 (GRCm39) E6K unknown Het
Bola1 G A 3: 96,104,573 (GRCm39) A7V probably benign Het
Ccdc18 A G 5: 108,303,663 (GRCm39) E249G probably damaging Het
Cep162 G A 9: 87,074,903 (GRCm39) Q1360* probably null Het
Cep350 T C 1: 155,747,780 (GRCm39) I2047V probably damaging Het
Cntnap5c C T 17: 58,362,687 (GRCm39) R347W probably damaging Het
Eif4a3l1 T A 6: 136,305,542 (GRCm39) M1K probably null Het
Fmo6 C T 1: 162,748,174 (GRCm39) V297M probably damaging Het
Furin C T 7: 80,048,470 (GRCm39) V17M probably benign Het
Hs6st1 A G 1: 36,108,141 (GRCm39) T135A probably damaging Het
Klk1 A G 7: 43,878,410 (GRCm39) E190G probably benign Het
Map3k21 T C 8: 126,671,472 (GRCm39) L920P probably benign Het
Mecom T A 3: 30,039,519 (GRCm39) H180L probably benign Het
Mras T C 9: 99,293,548 (GRCm39) I31V probably damaging Het
Nrxn3 A G 12: 89,477,413 (GRCm39) D532G probably damaging Het
Nufip2 A G 11: 77,583,181 (GRCm39) N365S probably damaging Het
Or12j2 T C 7: 139,916,518 (GRCm39) Y248H probably damaging Het
Or4f47 A T 2: 111,972,406 (GRCm39) M39L probably benign Het
Or6b2 T C 1: 92,407,660 (GRCm39) I228V probably benign Het
Pgbd1 A T 13: 21,607,550 (GRCm39) S215T probably benign Het
Ptcd3 A G 6: 71,885,625 (GRCm39) C34R probably benign Het
S100a7l2 A T 3: 90,995,671 (GRCm39) M77K probably benign Het
Samd4 A G 14: 47,338,888 (GRCm39) D703G probably damaging Het
Slc12a9 C A 5: 137,313,737 (GRCm39) V741L probably benign Het
Slc12a9 T C 5: 137,326,710 (GRCm39) D249G probably benign Het
Slc3a1 A G 17: 85,335,924 (GRCm39) N22S possibly damaging Het
Sugct A G 13: 17,427,143 (GRCm39) L339P probably damaging Het
Tenm3 T C 8: 48,740,907 (GRCm39) D1192G probably damaging Het
Tinagl1 T A 4: 130,061,376 (GRCm39) D289V probably damaging Het
Tnrc6b C A 15: 80,807,691 (GRCm39) P1548T probably damaging Het
Vmn1r173 T A 7: 23,401,957 (GRCm39) L64* probably null Het
Zcchc2 T A 1: 105,958,662 (GRCm39) N1044K probably damaging Het
Zfp750 T C 11: 121,404,135 (GRCm39) I247V probably benign Het
Other mutations in Scaper
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AATGCTGAGTAGAACCTTACCTGC -3'
(R):5'- CAGCCATGCATGTGTACATATAC -3'

Sequencing Primer
(F):5'- TGAGTAGAACCTTACCTGCACAGC -3'
(R):5'- AGGACCTGGGTTCAAATTCC -3'
Posted On 2020-09-02