Incidental Mutation 'R4035:Dop1a'
ID 313681
Institutional Source Beutler Lab
Gene Symbol Dop1a
Ensembl Gene ENSMUSG00000034973
Gene Name DOP1 leucine zipper like protein A
Synonyms D9Ertd809e, B130005I07Rik, Dopey1
MMRRC Submission 041613-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R4035 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 86349194-86436683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86376486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 240 (V240A)
Ref Sequence ENSEMBL: ENSMUSP00000140740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034987] [ENSMUST00000185919] [ENSMUST00000188675] [ENSMUST00000190957]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034987
AA Change: V240A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034987
Gene: ENSMUSG00000034973
AA Change: V240A

DomainStartEndE-ValueType
Pfam:Dopey_N 11 300 1e-117 PFAM
low complexity region 631 649 N/A INTRINSIC
low complexity region 961 973 N/A INTRINSIC
low complexity region 1073 1084 N/A INTRINSIC
low complexity region 1105 1118 N/A INTRINSIC
low complexity region 1268 1281 N/A INTRINSIC
low complexity region 1296 1318 N/A INTRINSIC
low complexity region 1335 1344 N/A INTRINSIC
low complexity region 1362 1373 N/A INTRINSIC
low complexity region 1575 1589 N/A INTRINSIC
low complexity region 2217 2227 N/A INTRINSIC
low complexity region 2351 2362 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000185919
AA Change: V240A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140040
Gene: ENSMUSG00000034973
AA Change: V240A

DomainStartEndE-ValueType
Pfam:Dopey_N 10 306 1.9e-106 PFAM
low complexity region 629 647 N/A INTRINSIC
low complexity region 959 971 N/A INTRINSIC
low complexity region 1071 1082 N/A INTRINSIC
low complexity region 1103 1116 N/A INTRINSIC
low complexity region 1266 1279 N/A INTRINSIC
low complexity region 1294 1316 N/A INTRINSIC
low complexity region 1333 1342 N/A INTRINSIC
low complexity region 1360 1371 N/A INTRINSIC
low complexity region 1573 1587 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187607
Predicted Effect probably damaging
Transcript: ENSMUST00000188675
AA Change: V240A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139413
Gene: ENSMUSG00000034973
AA Change: V240A

DomainStartEndE-ValueType
Pfam:Dopey_N 10 306 3e-106 PFAM
low complexity region 622 640 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190906
Predicted Effect probably damaging
Transcript: ENSMUST00000190957
AA Change: V240A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140740
Gene: ENSMUSG00000034973
AA Change: V240A

DomainStartEndE-ValueType
Pfam:Dopey_N 10 305 1.3e-108 PFAM
low complexity region 631 649 N/A INTRINSIC
low complexity region 961 973 N/A INTRINSIC
low complexity region 1073 1084 N/A INTRINSIC
low complexity region 1105 1118 N/A INTRINSIC
low complexity region 1268 1281 N/A INTRINSIC
low complexity region 1296 1318 N/A INTRINSIC
low complexity region 1335 1344 N/A INTRINSIC
low complexity region 1362 1373 N/A INTRINSIC
low complexity region 1575 1589 N/A INTRINSIC
low complexity region 2217 2227 N/A INTRINSIC
low complexity region 2351 2362 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190834
Meta Mutation Damage Score 0.1955 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A G 6: 124,333,879 (GRCm39) F34L probably benign Het
Abcb8 A G 5: 24,605,619 (GRCm39) S168G probably benign Het
Ano5 A G 7: 51,216,233 (GRCm39) probably benign Het
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Bhlhe41 A G 6: 145,808,754 (GRCm39) S353P probably benign Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cep350 T C 1: 155,835,541 (GRCm39) T52A probably benign Het
Coro2b A G 9: 62,333,071 (GRCm39) probably benign Het
Ctcf A T 8: 106,390,789 (GRCm39) E132V possibly damaging Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Cxcl2 A T 5: 91,052,272 (GRCm39) Q87L possibly damaging Het
Etfdh C T 3: 79,521,018 (GRCm39) V294I probably benign Het
Fnip2 C T 3: 79,386,808 (GRCm39) V973I probably benign Het
Fyco1 T C 9: 123,630,348 (GRCm39) T1286A probably benign Het
Gbp10 T A 5: 105,372,324 (GRCm39) E145D possibly damaging Het
Gsdme A T 6: 50,206,428 (GRCm39) N138K possibly damaging Het
Hcn4 A G 9: 58,751,172 (GRCm39) D266G probably benign Het
Henmt1 T C 3: 108,866,001 (GRCm39) V199A probably damaging Het
Hmcn2 A T 2: 31,226,624 (GRCm39) K200* probably null Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ifi203 T A 1: 173,757,040 (GRCm39) probably benign Het
Isl2 A G 9: 55,449,754 (GRCm39) S119G probably benign Het
Krba1 A G 6: 48,388,614 (GRCm39) N538D probably damaging Het
Lcorl A T 5: 45,891,383 (GRCm39) N323K possibly damaging Het
Mfsd2b A G 12: 4,920,578 (GRCm39) S80P probably damaging Het
Ndst4 C T 3: 125,232,385 (GRCm39) T318M probably damaging Het
Nlrp4f T C 13: 65,341,821 (GRCm39) N608S probably benign Het
Nolc1 GCA GCACCA 19: 46,069,797 (GRCm39) probably benign Het
Or6d12 A G 6: 116,493,590 (GRCm39) N284S possibly damaging Het
Or8b4 G A 9: 37,829,937 (GRCm39) probably benign Het
Osbpl2 G A 2: 179,803,353 (GRCm39) R475H probably damaging Het
Ppfibp1 A G 6: 146,898,334 (GRCm39) K97E probably damaging Het
Pramel26 T A 4: 143,537,026 (GRCm39) D435V probably benign Het
Prpsap1 A T 11: 116,363,834 (GRCm39) M263K probably benign Het
Prtg G T 9: 72,749,991 (GRCm39) E132* probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rttn T C 18: 89,013,777 (GRCm39) V482A probably benign Het
Samsn1 A G 16: 75,706,073 (GRCm39) M1T probably null Het
Scel A G 14: 103,767,440 (GRCm39) N33S probably damaging Het
Sema4g A T 19: 44,989,853 (GRCm39) Y644F probably damaging Het
Slc39a10 G A 1: 46,851,234 (GRCm39) T752M probably damaging Het
Snx27 T C 3: 94,431,551 (GRCm39) D281G probably damaging Het
Spesp1 T A 9: 62,180,318 (GRCm39) I197L probably benign Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Tpgs1 A G 10: 79,505,199 (GRCm39) probably null Het
Trpc2 G A 7: 101,733,711 (GRCm39) S220N probably damaging Het
Ttk C A 9: 83,736,890 (GRCm39) P450T possibly damaging Het
Ttn T G 2: 76,740,165 (GRCm39) Q3458P probably benign Het
Ube2z A G 11: 95,951,893 (GRCm39) F152L probably damaging Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Zfa-ps T A 10: 52,420,636 (GRCm39) noncoding transcript Het
Zfp267 T G 3: 36,218,989 (GRCm39) H337Q possibly damaging Het
Other mutations in Dop1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Dop1a APN 9 86,433,732 (GRCm39) missense possibly damaging 0.57
IGL00427:Dop1a APN 9 86,403,552 (GRCm39) missense probably damaging 0.96
IGL00427:Dop1a APN 9 86,403,551 (GRCm39) missense possibly damaging 0.93
IGL00427:Dop1a APN 9 86,403,553 (GRCm39) missense probably benign 0.09
IGL00577:Dop1a APN 9 86,402,999 (GRCm39) missense probably damaging 1.00
IGL00741:Dop1a APN 9 86,404,859 (GRCm39) missense possibly damaging 0.50
IGL00959:Dop1a APN 9 86,369,484 (GRCm39) missense probably damaging 1.00
IGL01339:Dop1a APN 9 86,433,730 (GRCm39) missense possibly damaging 0.90
IGL01608:Dop1a APN 9 86,389,614 (GRCm39) missense probably benign 0.23
IGL01760:Dop1a APN 9 86,401,976 (GRCm39) missense probably benign
IGL01788:Dop1a APN 9 86,413,772 (GRCm39) missense probably benign 0.03
IGL01844:Dop1a APN 9 86,396,138 (GRCm39) missense probably damaging 1.00
IGL01923:Dop1a APN 9 86,404,920 (GRCm39) missense probably damaging 1.00
IGL02036:Dop1a APN 9 86,413,818 (GRCm39) missense probably benign 0.18
IGL02308:Dop1a APN 9 86,402,141 (GRCm39) missense probably damaging 0.98
IGL02494:Dop1a APN 9 86,408,871 (GRCm39) missense probably damaging 1.00
IGL02698:Dop1a APN 9 86,406,412 (GRCm39) splice site probably benign
IGL02731:Dop1a APN 9 86,369,434 (GRCm39) missense probably damaging 1.00
IGL02821:Dop1a APN 9 86,402,209 (GRCm39) missense probably benign
IGL02952:Dop1a APN 9 86,414,975 (GRCm39) splice site probably benign
IGL03071:Dop1a APN 9 86,371,668 (GRCm39) missense possibly damaging 0.91
IGL03271:Dop1a APN 9 86,386,275 (GRCm39) nonsense probably null
IGL03344:Dop1a APN 9 86,418,197 (GRCm39) missense probably damaging 1.00
Beg UTSW 9 86,430,225 (GRCm39) nonsense probably null
covet UTSW 9 86,397,396 (GRCm39) missense probably damaging 1.00
crave UTSW 9 86,399,092 (GRCm39) missense probably benign
desire UTSW 9 86,402,109 (GRCm39) missense possibly damaging 0.47
groak UTSW 9 86,403,710 (GRCm39) missense probably damaging 1.00
Querer UTSW 9 86,386,265 (GRCm39) missense probably damaging 1.00
yearn UTSW 9 86,386,220 (GRCm39) splice site probably null
R0055:Dop1a UTSW 9 86,394,705 (GRCm39) missense probably benign 0.08
R0285:Dop1a UTSW 9 86,394,692 (GRCm39) missense probably damaging 1.00
R0415:Dop1a UTSW 9 86,388,555 (GRCm39) missense probably damaging 1.00
R0427:Dop1a UTSW 9 86,389,585 (GRCm39) missense probably damaging 1.00
R0514:Dop1a UTSW 9 86,402,787 (GRCm39) missense probably damaging 1.00
R0538:Dop1a UTSW 9 86,367,550 (GRCm39) missense probably damaging 1.00
R1118:Dop1a UTSW 9 86,397,459 (GRCm39) missense probably damaging 1.00
R1158:Dop1a UTSW 9 86,367,609 (GRCm39) missense probably damaging 1.00
R1272:Dop1a UTSW 9 86,403,477 (GRCm39) missense probably damaging 1.00
R1448:Dop1a UTSW 9 86,424,785 (GRCm39) splice site probably null
R1584:Dop1a UTSW 9 86,430,225 (GRCm39) nonsense probably null
R1601:Dop1a UTSW 9 86,418,303 (GRCm39) missense probably damaging 0.99
R1674:Dop1a UTSW 9 86,418,213 (GRCm39) missense probably damaging 0.98
R1706:Dop1a UTSW 9 86,436,133 (GRCm39) missense possibly damaging 0.92
R1856:Dop1a UTSW 9 86,374,057 (GRCm39) missense probably damaging 0.99
R1926:Dop1a UTSW 9 86,405,072 (GRCm39) missense probably damaging 1.00
R1929:Dop1a UTSW 9 86,376,471 (GRCm39) missense probably damaging 1.00
R2029:Dop1a UTSW 9 86,403,418 (GRCm39) missense probably damaging 1.00
R2125:Dop1a UTSW 9 86,403,099 (GRCm39) missense probably damaging 1.00
R2206:Dop1a UTSW 9 86,403,652 (GRCm39) missense probably benign 0.00
R2271:Dop1a UTSW 9 86,376,471 (GRCm39) missense probably damaging 1.00
R2312:Dop1a UTSW 9 86,403,495 (GRCm39) nonsense probably null
R2379:Dop1a UTSW 9 86,403,138 (GRCm39) missense probably damaging 1.00
R2507:Dop1a UTSW 9 86,395,170 (GRCm39) missense probably damaging 1.00
R3737:Dop1a UTSW 9 86,376,486 (GRCm39) missense probably damaging 1.00
R3804:Dop1a UTSW 9 86,403,048 (GRCm39) missense probably damaging 1.00
R3916:Dop1a UTSW 9 86,403,186 (GRCm39) missense probably damaging 1.00
R3921:Dop1a UTSW 9 86,402,324 (GRCm39) missense probably benign 0.06
R4392:Dop1a UTSW 9 86,385,196 (GRCm39) intron probably benign
R4404:Dop1a UTSW 9 86,404,866 (GRCm39) nonsense probably null
R4513:Dop1a UTSW 9 86,402,612 (GRCm39) missense probably benign 0.39
R4624:Dop1a UTSW 9 86,403,578 (GRCm39) missense probably damaging 1.00
R4659:Dop1a UTSW 9 86,384,085 (GRCm39) intron probably benign
R4910:Dop1a UTSW 9 86,374,114 (GRCm39) missense probably damaging 1.00
R4919:Dop1a UTSW 9 86,402,109 (GRCm39) missense possibly damaging 0.47
R5061:Dop1a UTSW 9 86,385,161 (GRCm39) splice site probably benign
R5079:Dop1a UTSW 9 86,369,474 (GRCm39) missense probably damaging 1.00
R5118:Dop1a UTSW 9 86,388,312 (GRCm39) missense probably damaging 1.00
R5169:Dop1a UTSW 9 86,415,074 (GRCm39) missense probably damaging 1.00
R5176:Dop1a UTSW 9 86,403,868 (GRCm39) missense probably damaging 1.00
R5190:Dop1a UTSW 9 86,369,357 (GRCm39) missense probably damaging 1.00
R5256:Dop1a UTSW 9 86,397,381 (GRCm39) missense probably damaging 1.00
R5346:Dop1a UTSW 9 86,402,835 (GRCm39) missense probably damaging 1.00
R5484:Dop1a UTSW 9 86,427,341 (GRCm39) missense probably damaging 1.00
R5501:Dop1a UTSW 9 86,389,783 (GRCm39) missense probably benign 0.04
R5554:Dop1a UTSW 9 86,403,710 (GRCm39) missense probably damaging 1.00
R5707:Dop1a UTSW 9 86,385,050 (GRCm39) missense possibly damaging 0.95
R5826:Dop1a UTSW 9 86,389,623 (GRCm39) missense possibly damaging 0.94
R5921:Dop1a UTSW 9 86,383,975 (GRCm39) missense probably damaging 1.00
R5934:Dop1a UTSW 9 86,424,495 (GRCm39) nonsense probably null
R5936:Dop1a UTSW 9 86,418,565 (GRCm39) nonsense probably null
R6046:Dop1a UTSW 9 86,397,396 (GRCm39) missense probably damaging 1.00
R6053:Dop1a UTSW 9 86,397,347 (GRCm39) missense possibly damaging 0.95
R6072:Dop1a UTSW 9 86,389,750 (GRCm39) missense probably benign 0.00
R6104:Dop1a UTSW 9 86,402,860 (GRCm39) missense possibly damaging 0.86
R6125:Dop1a UTSW 9 86,403,186 (GRCm39) missense probably damaging 1.00
R6299:Dop1a UTSW 9 86,386,265 (GRCm39) missense probably damaging 1.00
R6930:Dop1a UTSW 9 86,413,825 (GRCm39) critical splice donor site probably null
R6949:Dop1a UTSW 9 86,382,913 (GRCm39) missense probably damaging 1.00
R6979:Dop1a UTSW 9 86,403,695 (GRCm39) missense possibly damaging 0.77
R7035:Dop1a UTSW 9 86,406,355 (GRCm39) missense possibly damaging 0.85
R7069:Dop1a UTSW 9 86,432,222 (GRCm39) critical splice donor site probably null
R7101:Dop1a UTSW 9 86,389,722 (GRCm39) missense probably benign
R7202:Dop1a UTSW 9 86,386,220 (GRCm39) splice site probably null
R7222:Dop1a UTSW 9 86,404,929 (GRCm39) critical splice donor site probably null
R7233:Dop1a UTSW 9 86,403,749 (GRCm39) missense probably benign 0.00
R7236:Dop1a UTSW 9 86,397,431 (GRCm39) missense probably damaging 1.00
R7252:Dop1a UTSW 9 86,382,874 (GRCm39) missense probably damaging 1.00
R7268:Dop1a UTSW 9 86,394,830 (GRCm39) nonsense probably null
R7353:Dop1a UTSW 9 86,394,912 (GRCm39) missense probably damaging 0.99
R7481:Dop1a UTSW 9 86,417,985 (GRCm39) missense probably damaging 1.00
R7498:Dop1a UTSW 9 86,376,464 (GRCm39) missense possibly damaging 0.95
R7507:Dop1a UTSW 9 86,418,002 (GRCm39) missense probably benign 0.01
R7525:Dop1a UTSW 9 86,388,343 (GRCm39) missense probably damaging 1.00
R7539:Dop1a UTSW 9 86,403,626 (GRCm39) missense probably benign 0.03
R7751:Dop1a UTSW 9 86,389,783 (GRCm39) missense probably benign 0.00
R7753:Dop1a UTSW 9 86,371,755 (GRCm39) missense possibly damaging 0.52
R7839:Dop1a UTSW 9 86,424,818 (GRCm39) nonsense probably null
R7868:Dop1a UTSW 9 86,384,037 (GRCm39) critical splice donor site probably null
R8061:Dop1a UTSW 9 86,403,246 (GRCm39) missense possibly damaging 0.95
R8067:Dop1a UTSW 9 86,400,392 (GRCm39) missense probably benign 0.00
R8156:Dop1a UTSW 9 86,376,510 (GRCm39) missense probably damaging 1.00
R8196:Dop1a UTSW 9 86,405,151 (GRCm39) missense probably benign 0.12
R8223:Dop1a UTSW 9 86,400,345 (GRCm39) missense probably damaging 1.00
R8267:Dop1a UTSW 9 86,396,054 (GRCm39) missense possibly damaging 0.81
R8276:Dop1a UTSW 9 86,399,092 (GRCm39) missense probably benign
R8306:Dop1a UTSW 9 86,402,259 (GRCm39) missense possibly damaging 0.94
R8353:Dop1a UTSW 9 86,403,639 (GRCm39) missense probably damaging 0.97
R8362:Dop1a UTSW 9 86,395,941 (GRCm39) missense probably benign 0.02
R8403:Dop1a UTSW 9 86,382,925 (GRCm39) missense probably damaging 1.00
R8817:Dop1a UTSW 9 86,396,003 (GRCm39) missense possibly damaging 0.91
R8862:Dop1a UTSW 9 86,406,404 (GRCm39) critical splice donor site probably null
R8888:Dop1a UTSW 9 86,403,587 (GRCm39) missense probably benign
R8972:Dop1a UTSW 9 86,403,300 (GRCm39) missense possibly damaging 0.50
R9001:Dop1a UTSW 9 86,436,374 (GRCm39) makesense probably null
R9011:Dop1a UTSW 9 86,397,396 (GRCm39) missense probably damaging 1.00
R9021:Dop1a UTSW 9 86,402,490 (GRCm39) missense probably benign 0.35
R9039:Dop1a UTSW 9 86,382,870 (GRCm39) missense probably damaging 0.99
R9128:Dop1a UTSW 9 86,395,208 (GRCm39) missense probably benign
R9178:Dop1a UTSW 9 86,371,796 (GRCm39) nonsense probably null
R9238:Dop1a UTSW 9 86,415,027 (GRCm39) missense probably benign
R9313:Dop1a UTSW 9 86,406,641 (GRCm39) makesense probably null
R9334:Dop1a UTSW 9 86,403,027 (GRCm39) missense probably damaging 1.00
R9422:Dop1a UTSW 9 86,425,093 (GRCm39) missense probably damaging 1.00
R9562:Dop1a UTSW 9 86,424,811 (GRCm39) missense probably damaging 1.00
R9584:Dop1a UTSW 9 86,385,151 (GRCm39) missense possibly damaging 0.59
R9677:Dop1a UTSW 9 86,425,098 (GRCm39) missense
RF004:Dop1a UTSW 9 86,436,244 (GRCm39) missense probably benign
X0019:Dop1a UTSW 9 86,413,803 (GRCm39) missense probably damaging 0.98
X0019:Dop1a UTSW 9 86,388,280 (GRCm39) missense probably damaging 1.00
ZE80:Dop1a UTSW 9 86,382,895 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTAAGAAGTCATTGACACTGGC -3'
(R):5'- GGTCTCAAGACTGGGCTTATTTAG -3'

Sequencing Primer
(F):5'- GAAGTCATTGACACTGGCATTAAC -3'
(R):5'- GGGCTTATTTAGAATTAGCAATGAGC -3'
Posted On 2015-04-30