Incidental Mutation 'R8862:Dop1a'
ID 675721
Institutional Source Beutler Lab
Gene Symbol Dop1a
Ensembl Gene ENSMUSG00000034973
Gene Name DOP1 leucine zipper like protein A
Synonyms D9Ertd809e, B130005I07Rik, Dopey1
MMRRC Submission 068741-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R8862 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 86349194-86436683 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 86406404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034987] [ENSMUST00000185297] [ENSMUST00000185919] [ENSMUST00000190957]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034987
SMART Domains Protein: ENSMUSP00000034987
Gene: ENSMUSG00000034973

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 null
Transcript: ENSMUST00000185297
SMART Domains Protein: ENSMUSP00000140258
Gene: ENSMUSG00000034973

DomainStartEndE-ValueType
low complexity region 111 125 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185919
SMART Domains Protein: ENSMUSP00000140040
Gene: ENSMUSG00000034973

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 probably benign
Transcript: ENSMUST00000190957
SMART Domains Protein: ENSMUSP00000140740
Gene: ENSMUSG00000034973

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
Meta Mutation Damage Score 0.9502 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 C T 14: 54,901,172 (GRCm39) G685R probably benign Het
Ahdc1 T C 4: 132,791,129 (GRCm39) F790S possibly damaging Het
Alg10b T C 15: 90,109,893 (GRCm39) Y69H probably damaging Het
Amer3 A T 1: 34,626,465 (GRCm39) S235C probably damaging Het
Ankfy1 G T 11: 72,644,469 (GRCm39) S722I probably benign Het
Baz1a T C 12: 55,032,624 (GRCm39) probably benign Het
Ccdc177 A G 12: 80,804,208 (GRCm39) S689P unknown Het
Cdh24 C A 14: 54,869,874 (GRCm39) R681L probably damaging Het
Cdk14 T G 5: 5,060,862 (GRCm39) I338L probably benign Het
Clec2m T C 6: 129,308,494 (GRCm39) T12A probably benign Het
Col18a1 G T 10: 76,949,044 (GRCm39) S156* probably null Het
Col6a6 T C 9: 105,663,348 (GRCm39) Y63C probably damaging Het
Cytip G A 2: 58,037,887 (GRCm39) T159M probably benign Het
Dnah5 T C 15: 28,459,502 (GRCm39) probably benign Het
Dock3 T C 9: 106,855,927 (GRCm39) Y744C probably damaging Het
Dse A T 10: 34,029,934 (GRCm39) D385E probably damaging Het
Efhc1 A C 1: 21,037,573 (GRCm39) D250A Het
Epha3 T A 16: 63,431,348 (GRCm39) T519S probably benign Het
Gas2l3 A G 10: 89,250,282 (GRCm39) Y279H probably damaging Het
Gatd3a A G 10: 78,005,461 (GRCm39) S35P probably damaging Het
Gemin6 G A 17: 80,535,432 (GRCm39) V131I probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gnai2 C A 9: 107,512,326 (GRCm39) A31S Het
Greb1l A G 18: 10,555,042 (GRCm39) D1696G possibly damaging Het
Itfg2 T C 6: 128,394,668 (GRCm39) E35G probably damaging Het
Kctd10 A G 5: 114,503,921 (GRCm39) F244L probably damaging Het
Kif19b C A 5: 140,472,534 (GRCm39) P686Q probably damaging Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 141,850,333 (GRCm39) probably benign Het
Lgals9 G T 11: 78,860,716 (GRCm39) probably benign Het
Lrriq4 A T 3: 30,705,088 (GRCm39) N372I probably damaging Het
Mical2 A G 7: 111,910,574 (GRCm39) N248S probably damaging Het
Mipep T A 14: 61,080,689 (GRCm39) C560* probably null Het
Myo1a G A 10: 127,548,653 (GRCm39) V396M probably benign Het
Myod1 A G 7: 46,026,487 (GRCm39) T131A probably damaging Het
Nalcn T A 14: 123,647,199 (GRCm39) D558V possibly damaging Het
Odf2l T A 3: 144,833,758 (GRCm39) probably benign Het
Or6d13 G A 6: 116,518,186 (GRCm39) M257I probably benign Het
Plbd2 A T 5: 120,624,728 (GRCm39) M480K probably damaging Het
Ppargc1a A G 5: 51,631,235 (GRCm39) F465L possibly damaging Het
Ppp1r15b A T 1: 133,064,506 (GRCm39) I659F probably damaging Het
Prune2 C T 19: 17,097,510 (GRCm39) L1005F probably benign Het
Pter T C 2: 12,985,341 (GRCm39) S224P probably damaging Het
Ralgapa2 A G 2: 146,266,731 (GRCm39) I615T probably benign Het
Ror1 T C 4: 100,191,715 (GRCm39) probably null Het
Rps2 A G 17: 24,940,662 (GRCm39) T259A probably benign Het
Rsf1 GCG GCGACGGCGCCG 7: 97,229,114 (GRCm39) probably benign Het
S1pr4 G A 10: 81,334,533 (GRCm39) R314C probably damaging Het
Sema4f A T 6: 82,891,081 (GRCm39) H575Q probably benign Het
Son A G 16: 91,453,734 (GRCm39) D827G probably damaging Het
Sox8 A T 17: 25,787,045 (GRCm39) H219Q possibly damaging Het
Spink2 C T 5: 77,357,615 (GRCm39) D24N probably benign Het
Stard9 A G 2: 120,534,099 (GRCm39) D3452G probably benign Het
Syngr2 G T 11: 117,703,507 (GRCm39) D108Y probably damaging Het
Tardbp G A 4: 148,702,755 (GRCm39) S403L possibly damaging Het
Tomm70a T C 16: 56,942,546 (GRCm39) S108P probably benign Het
Ttc12 T C 9: 49,351,515 (GRCm39) T661A probably benign Het
Tubgcp6 A G 15: 89,006,824 (GRCm39) V66A probably benign Het
Unc13b T A 4: 43,235,207 (GRCm39) L477Q probably damaging Het
Vmn1r77 T A 7: 11,776,060 (GRCm39) C279S probably benign Het
Vmn2r79 T C 7: 86,645,712 (GRCm39) S14P probably benign Het
Zan T C 5: 137,472,674 (GRCm39) T72A probably benign Het
Zcchc2 A G 1: 105,958,998 (GRCm39) *1156W probably null Het
Zfp354c A T 11: 50,708,718 (GRCm39) D26E probably benign 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
R4035:Dop1a UTSW 9 86,376,486 (GRCm39) missense probably damaging 1.00
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
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'- CCCTACAATTACCGAACTAAATGTG -3'
(R):5'- ACAGTGACAGGCCAGATGTC -3'

Sequencing Primer
(F):5'- TTACCGAACTAAATGTGTTATCTAGC -3'
(R):5'- ACATATGGCCTTGTGCATGCAAG -3'
Posted On 2021-07-15