Incidental Mutation 'R2029:Dop1b'
ID 221056
Institutional Source Beutler Lab
Gene Symbol Dop1b
Ensembl Gene ENSMUSG00000022946
Gene Name DOP1 leucine zipper like protein B
Synonyms Dopey2, 0610038M01Rik, 2610510B01Rik
MMRRC Submission 040036-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2029 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 93508795-93607476 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93566323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 917 (K917E)
Ref Sequence ENSEMBL: ENSMUSP00000154771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045004] [ENSMUST00000227156]
AlphaFold Q3UHQ6
Predicted Effect probably benign
Transcript: ENSMUST00000045004
AA Change: K1035E

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000044437
Gene: ENSMUSG00000022946
AA Change: K1035E

DomainStartEndE-ValueType
Pfam:Dopey_N 11 308 3.9e-104 PFAM
low complexity region 651 666 N/A INTRINSIC
low complexity region 709 719 N/A INTRINSIC
low complexity region 747 759 N/A INTRINSIC
low complexity region 1186 1199 N/A INTRINSIC
low complexity region 1436 1451 N/A INTRINSIC
low complexity region 1893 1908 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000226215
AA Change: K245E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226535
Predicted Effect unknown
Transcript: ENSMUST00000226836
AA Change: K197E
Predicted Effect probably benign
Transcript: ENSMUST00000227156
AA Change: K917E

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (97/99)
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C G 8: 25,140,893 (GRCm39) G286A probably damaging Het
Adcy1 G A 11: 7,089,142 (GRCm39) A519T probably benign Het
Anxa2 T A 9: 69,371,762 (GRCm39) S2T possibly damaging Het
Ap3m1 G A 14: 21,089,217 (GRCm39) S261L possibly damaging Het
Baz2b A T 2: 59,743,067 (GRCm39) probably benign Het
Brdt T A 5: 107,507,090 (GRCm39) S497T probably benign Het
Cdh11 A G 8: 103,406,404 (GRCm39) F23S probably benign Het
Cdh16 A C 8: 105,344,434 (GRCm39) L540R probably damaging Het
Ces5a A T 8: 94,261,205 (GRCm39) L74Q probably damaging Het
Cfap69 A G 5: 5,654,306 (GRCm39) S543P probably damaging Het
Cfap74 T C 4: 155,526,538 (GRCm39) I763T possibly damaging Het
Cma1 T A 14: 56,181,191 (GRCm39) R58S possibly damaging Het
Csmd3 C T 15: 47,701,975 (GRCm39) D1599N probably damaging Het
Cyld A G 8: 89,471,940 (GRCm39) K857R probably benign Het
Cyp3a16 T C 5: 145,388,667 (GRCm39) D270G probably damaging Het
D1Pas1 T C 1: 186,700,286 (GRCm39) S72P possibly damaging Het
Ddx3y T C Y: 1,266,389 (GRCm39) E331G probably benign Het
Degs1l T A 1: 180,882,496 (GRCm39) I86K probably benign Het
Dis3l2 T C 1: 86,782,189 (GRCm39) probably benign Het
Dop1a G T 9: 86,403,418 (GRCm39) W1539C probably damaging Het
Ecpas G A 4: 58,844,165 (GRCm39) R534* probably null Het
Efcab3 T C 11: 104,990,851 (GRCm39) I5462T probably damaging Het
Eif1ad15 A T 12: 88,288,191 (GRCm39) S21T unknown Het
Epo A G 5: 137,483,447 (GRCm39) probably benign Het
Figla T A 6: 85,997,624 (GRCm39) probably benign Het
Flvcr1 T C 1: 190,753,353 (GRCm39) D273G probably benign Het
Fryl T A 5: 73,179,465 (GRCm39) R304* probably null Het
Gcm1 T G 9: 77,972,326 (GRCm39) D422E possibly damaging Het
Get3 A T 8: 85,746,403 (GRCm39) Y148* probably null Het
Ggt6 A G 11: 72,328,367 (GRCm39) D251G possibly damaging Het
Git2 A G 5: 114,904,511 (GRCm39) probably null Het
Gm18856 A T 13: 14,139,376 (GRCm39) probably benign Het
Gm20939 T A 17: 95,183,252 (GRCm39) probably benign Het
Gpr176 A G 2: 118,109,913 (GRCm39) Y449H probably benign Het
H2-Eb1 A G 17: 34,533,366 (GRCm39) E196G probably damaging Het
H2-M10.6 A G 17: 37,124,799 (GRCm39) T239A possibly damaging Het
Haus5 T C 7: 30,358,825 (GRCm39) N237S possibly damaging Het
Hectd3 T C 4: 116,857,882 (GRCm39) M605T probably damaging Het
Hps3 T C 3: 20,084,691 (GRCm39) I166V probably benign Het
Ighv5-21 A T 12: 114,286,434 (GRCm39) probably benign Het
Kdm6b C T 11: 69,294,418 (GRCm39) G1218D unknown Het
Klhl30 A G 1: 91,285,636 (GRCm39) probably null Het
Kmt2a A T 9: 44,729,747 (GRCm39) S3523R probably benign Het
Lnpep A T 17: 17,788,661 (GRCm39) N481K probably damaging Het
Lrp1b T C 2: 41,231,861 (GRCm39) H1203R probably benign Het
Lrrc8a C T 2: 30,146,661 (GRCm39) R492W probably damaging Het
Magel2 T A 7: 62,030,342 (GRCm39) V1082D unknown Het
Memo1 A C 17: 74,552,049 (GRCm39) H82Q probably null Het
Myh13 A T 11: 67,252,115 (GRCm39) T1408S probably benign Het
Myh2 A T 11: 67,085,451 (GRCm39) N1792Y possibly damaging Het
Myo1e A T 9: 70,275,969 (GRCm39) N728I possibly damaging Het
Myo1e T C 9: 70,285,997 (GRCm39) probably benign Het
Myo5c T C 9: 75,196,337 (GRCm39) probably benign Het
Or11l3 T A 11: 58,516,319 (GRCm39) L184F probably damaging Het
Or1e19 A G 11: 73,316,188 (GRCm39) V207A probably benign Het
Or2d2b T C 7: 106,705,643 (GRCm39) I142V probably benign Het
Or4c11c T A 2: 88,661,749 (GRCm39) M96K possibly damaging Het
Or51g1 T A 7: 102,633,478 (GRCm39) T298S probably damaging Het
Or52e3 T C 7: 102,868,967 (GRCm39) F14S probably damaging Het
Parp2 C T 14: 51,047,543 (GRCm39) A18V probably benign Het
Peli1 T A 11: 21,098,110 (GRCm39) C282S probably damaging Het
Phf8-ps G T 17: 33,286,598 (GRCm39) S68* probably null Het
Piezo2 T C 18: 63,252,006 (GRCm39) M404V possibly damaging Het
Pkn1 T A 8: 84,404,592 (GRCm39) Q496L possibly damaging Het
Pla2r1 A T 2: 60,262,317 (GRCm39) F1093L probably damaging Het
Ppp2r3d A G 9: 101,022,680 (GRCm39) V323A probably damaging Het
Pramel16 T A 4: 143,676,453 (GRCm39) Y217F probably benign Het
Prg2 C T 2: 84,812,342 (GRCm39) probably benign Het
Ptprb G A 10: 116,182,958 (GRCm39) G1545S probably benign Het
Rbm19 A G 5: 120,258,307 (GRCm39) D174G possibly damaging Het
Rhbdf2 T A 11: 116,491,974 (GRCm39) T526S probably damaging Het
Rpusd4 A G 9: 35,179,310 (GRCm39) N42S probably benign Het
Ryr3 T A 2: 112,477,361 (GRCm39) Q4455L possibly damaging Het
Sema4a G T 3: 88,358,668 (GRCm39) H30Q probably damaging Het
Skint1 G A 4: 111,878,653 (GRCm39) probably null Het
Slc1a3 A G 15: 8,675,153 (GRCm39) V284A probably benign Het
Slc30a9 A T 5: 67,497,318 (GRCm39) K288* probably null Het
Slc36a1 G T 11: 55,119,164 (GRCm39) A380S probably benign Het
Slc47a1 G A 11: 61,268,833 (GRCm39) probably benign Het
Snx19 A T 9: 30,340,296 (GRCm39) E478V probably benign Het
Spag6 T C 2: 18,738,916 (GRCm39) probably benign Het
Stag1 A T 9: 100,668,740 (GRCm39) T223S probably damaging Het
Terb1 A T 8: 105,224,732 (GRCm39) probably benign Het
Terf1 A G 1: 15,876,170 (GRCm39) D90G possibly damaging Het
Tex15 A G 8: 34,061,302 (GRCm39) D518G probably damaging Het
Tmem174 T A 13: 98,773,546 (GRCm39) M95L possibly damaging Het
Tnnt3 GTCCAGGCATCTC GTC 7: 142,066,364 (GRCm39) probably benign Het
Usp28 A G 9: 48,896,803 (GRCm39) D8G probably benign Het
Vmn2r105 T C 17: 20,444,840 (GRCm39) T551A probably damaging Het
Vmn2r107 A G 17: 20,595,549 (GRCm39) I701V probably benign Het
Vmn2r13 A C 5: 109,339,943 (GRCm39) F11V probably benign Het
Vmn2r85 G C 10: 130,261,443 (GRCm39) S298* probably null Het
Wdr6 C G 9: 108,452,554 (GRCm39) W443S probably damaging Het
Wipi1 A G 11: 109,474,016 (GRCm39) V210A probably damaging Het
Zfp317 A G 9: 19,556,532 (GRCm39) T47A probably benign Het
Zfp61 T C 7: 23,991,714 (GRCm39) T146A probably benign Het
Zfp964 A G 8: 70,116,567 (GRCm39) E389G unknown Het
Zfyve16 T C 13: 92,640,985 (GRCm39) D1253G probably damaging Het
Zpld2 T C 4: 133,929,669 (GRCm39) K212R possibly damaging Het
Zswim7 G A 11: 62,158,299 (GRCm39) probably benign Het
Other mutations in Dop1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Dop1b APN 16 93,596,914 (GRCm39) unclassified probably benign
IGL00492:Dop1b APN 16 93,577,670 (GRCm39) missense probably benign 0.00
IGL00753:Dop1b APN 16 93,566,512 (GRCm39) missense probably benign
IGL00832:Dop1b APN 16 93,560,289 (GRCm39) missense probably benign 0.01
IGL00939:Dop1b APN 16 93,570,971 (GRCm39) missense possibly damaging 0.83
IGL01019:Dop1b APN 16 93,607,117 (GRCm39) missense probably benign 0.32
IGL01288:Dop1b APN 16 93,536,181 (GRCm39) missense possibly damaging 0.78
IGL01505:Dop1b APN 16 93,554,004 (GRCm39) missense possibly damaging 0.87
IGL01535:Dop1b APN 16 93,566,846 (GRCm39) nonsense probably null
IGL01696:Dop1b APN 16 93,567,128 (GRCm39) missense probably benign 0.00
IGL02077:Dop1b APN 16 93,577,648 (GRCm39) missense probably damaging 0.96
IGL02163:Dop1b APN 16 93,559,315 (GRCm39) missense possibly damaging 0.48
IGL02234:Dop1b APN 16 93,549,039 (GRCm39) missense probably benign
IGL02302:Dop1b APN 16 93,607,005 (GRCm39) missense probably benign 0.08
IGL02485:Dop1b APN 16 93,567,710 (GRCm39) missense probably damaging 1.00
IGL02563:Dop1b APN 16 93,574,293 (GRCm39) missense probably damaging 0.99
IGL02733:Dop1b APN 16 93,536,079 (GRCm39) missense possibly damaging 0.80
IGL02792:Dop1b APN 16 93,598,460 (GRCm39) missense possibly damaging 0.75
IGL02941:Dop1b APN 16 93,552,361 (GRCm39) missense probably benign 0.09
IGL03143:Dop1b APN 16 93,556,543 (GRCm39) missense probably benign
PIT4519001:Dop1b UTSW 16 93,558,942 (GRCm39) missense probably benign
R0320:Dop1b UTSW 16 93,607,035 (GRCm39) missense probably benign 0.02
R0499:Dop1b UTSW 16 93,567,325 (GRCm39) missense probably benign 0.00
R0501:Dop1b UTSW 16 93,549,750 (GRCm39) missense probably benign 0.00
R0534:Dop1b UTSW 16 93,559,393 (GRCm39) missense probably benign 0.04
R0583:Dop1b UTSW 16 93,552,374 (GRCm39) missense probably benign 0.30
R0626:Dop1b UTSW 16 93,560,844 (GRCm39) missense probably damaging 1.00
R0724:Dop1b UTSW 16 93,559,213 (GRCm39) missense probably benign 0.01
R0907:Dop1b UTSW 16 93,598,481 (GRCm39) missense probably damaging 1.00
R1263:Dop1b UTSW 16 93,574,274 (GRCm39) missense probably benign
R1378:Dop1b UTSW 16 93,567,280 (GRCm39) missense probably benign
R1572:Dop1b UTSW 16 93,567,041 (GRCm39) missense probably damaging 1.00
R1604:Dop1b UTSW 16 93,559,458 (GRCm39) missense probably benign
R1642:Dop1b UTSW 16 93,559,203 (GRCm39) missense probably benign 0.00
R1668:Dop1b UTSW 16 93,562,404 (GRCm39) missense probably damaging 1.00
R1669:Dop1b UTSW 16 93,566,548 (GRCm39) missense probably damaging 1.00
R1702:Dop1b UTSW 16 93,544,509 (GRCm39) missense possibly damaging 0.47
R1711:Dop1b UTSW 16 93,596,814 (GRCm39) missense probably damaging 1.00
R1917:Dop1b UTSW 16 93,513,150 (GRCm39) missense probably damaging 1.00
R1968:Dop1b UTSW 16 93,579,307 (GRCm39) missense probably damaging 1.00
R1988:Dop1b UTSW 16 93,563,061 (GRCm39) missense probably damaging 1.00
R2139:Dop1b UTSW 16 93,567,895 (GRCm39) missense possibly damaging 0.78
R2355:Dop1b UTSW 16 93,567,565 (GRCm39) missense probably damaging 1.00
R3609:Dop1b UTSW 16 93,536,220 (GRCm39) missense probably damaging 1.00
R3792:Dop1b UTSW 16 93,568,734 (GRCm39) missense possibly damaging 0.54
R4364:Dop1b UTSW 16 93,567,812 (GRCm39) missense probably benign 0.00
R4380:Dop1b UTSW 16 93,513,120 (GRCm39) missense possibly damaging 0.53
R4455:Dop1b UTSW 16 93,563,103 (GRCm39) missense probably damaging 1.00
R4779:Dop1b UTSW 16 93,553,969 (GRCm39) missense probably damaging 1.00
R4820:Dop1b UTSW 16 93,589,978 (GRCm39) missense probably benign 0.00
R4834:Dop1b UTSW 16 93,536,892 (GRCm39) start codon destroyed probably null 0.70
R4866:Dop1b UTSW 16 93,560,318 (GRCm39) critical splice donor site probably null
R4882:Dop1b UTSW 16 93,549,802 (GRCm39) missense possibly damaging 0.95
R4900:Dop1b UTSW 16 93,560,318 (GRCm39) critical splice donor site probably null
R5153:Dop1b UTSW 16 93,570,891 (GRCm39) missense probably damaging 0.98
R5176:Dop1b UTSW 16 93,536,931 (GRCm39) missense probably damaging 1.00
R5206:Dop1b UTSW 16 93,598,472 (GRCm39) missense probably damaging 1.00
R5320:Dop1b UTSW 16 93,536,874 (GRCm39) missense probably damaging 1.00
R5361:Dop1b UTSW 16 93,567,392 (GRCm39) missense probably damaging 1.00
R5380:Dop1b UTSW 16 93,560,298 (GRCm39) missense probably damaging 0.96
R5476:Dop1b UTSW 16 93,570,801 (GRCm39) splice site probably null
R5502:Dop1b UTSW 16 93,590,114 (GRCm39) missense probably benign 0.00
R5543:Dop1b UTSW 16 93,595,808 (GRCm39) missense probably damaging 0.98
R5557:Dop1b UTSW 16 93,560,819 (GRCm39) missense probably damaging 0.96
R5901:Dop1b UTSW 16 93,566,639 (GRCm39) missense possibly damaging 0.88
R5907:Dop1b UTSW 16 93,598,469 (GRCm39) missense probably damaging 1.00
R6174:Dop1b UTSW 16 93,563,110 (GRCm39) missense probably damaging 1.00
R6256:Dop1b UTSW 16 93,604,102 (GRCm39) missense possibly damaging 0.94
R6383:Dop1b UTSW 16 93,579,136 (GRCm39) missense possibly damaging 0.76
R6525:Dop1b UTSW 16 93,606,304 (GRCm39) missense probably damaging 1.00
R6554:Dop1b UTSW 16 93,557,346 (GRCm39) missense probably benign 0.22
R6823:Dop1b UTSW 16 93,552,373 (GRCm39) missense possibly damaging 0.75
R7036:Dop1b UTSW 16 93,574,378 (GRCm39) missense probably benign 0.01
R7058:Dop1b UTSW 16 93,573,878 (GRCm39) missense probably benign 0.00
R7061:Dop1b UTSW 16 93,558,951 (GRCm39) missense probably benign 0.00
R7209:Dop1b UTSW 16 93,566,733 (GRCm39) missense probably benign
R7214:Dop1b UTSW 16 93,607,023 (GRCm39) missense possibly damaging 0.69
R7232:Dop1b UTSW 16 93,557,373 (GRCm39) critical splice donor site probably null
R7255:Dop1b UTSW 16 93,567,034 (GRCm39) missense probably damaging 1.00
R7335:Dop1b UTSW 16 93,544,396 (GRCm39) missense probably benign 0.04
R7535:Dop1b UTSW 16 93,603,249 (GRCm39) missense probably damaging 1.00
R7700:Dop1b UTSW 16 93,595,649 (GRCm39) splice site probably null
R7763:Dop1b UTSW 16 93,552,402 (GRCm39) missense probably benign 0.00
R7814:Dop1b UTSW 16 93,596,859 (GRCm39) missense probably damaging 1.00
R7839:Dop1b UTSW 16 93,560,829 (GRCm39) missense probably damaging 1.00
R7862:Dop1b UTSW 16 93,546,851 (GRCm39) missense probably damaging 1.00
R7894:Dop1b UTSW 16 93,607,092 (GRCm39) missense probably benign 0.01
R7952:Dop1b UTSW 16 93,546,848 (GRCm39) missense possibly damaging 0.93
R7956:Dop1b UTSW 16 93,567,916 (GRCm39) critical splice donor site probably null
R8033:Dop1b UTSW 16 93,566,371 (GRCm39) missense probably benign
R8061:Dop1b UTSW 16 93,546,884 (GRCm39) missense probably damaging 1.00
R8067:Dop1b UTSW 16 93,562,336 (GRCm39) nonsense probably null
R8146:Dop1b UTSW 16 93,546,827 (GRCm39) missense possibly damaging 0.95
R8184:Dop1b UTSW 16 93,573,881 (GRCm39) missense probably benign 0.13
R8221:Dop1b UTSW 16 93,546,847 (GRCm39) missense probably benign 0.01
R8263:Dop1b UTSW 16 93,559,083 (GRCm39) missense possibly damaging 0.87
R8329:Dop1b UTSW 16 93,568,675 (GRCm39) missense probably damaging 1.00
R8555:Dop1b UTSW 16 93,568,698 (GRCm39) missense probably damaging 1.00
R8683:Dop1b UTSW 16 93,570,809 (GRCm39) missense probably benign
R8683:Dop1b UTSW 16 93,568,699 (GRCm39) missense probably damaging 0.98
R8716:Dop1b UTSW 16 93,577,673 (GRCm39) nonsense probably null
R8807:Dop1b UTSW 16 93,558,973 (GRCm39) missense probably benign 0.03
R8840:Dop1b UTSW 16 93,607,005 (GRCm39) missense probably benign 0.08
R8851:Dop1b UTSW 16 93,559,398 (GRCm39) missense probably benign 0.39
R8884:Dop1b UTSW 16 93,556,550 (GRCm39) missense probably benign
R8976:Dop1b UTSW 16 93,558,969 (GRCm39) missense probably benign 0.01
R9219:Dop1b UTSW 16 93,567,184 (GRCm39) missense probably damaging 1.00
R9238:Dop1b UTSW 16 93,546,018 (GRCm39) missense probably benign 0.14
R9284:Dop1b UTSW 16 93,557,196 (GRCm39) missense probably damaging 1.00
R9289:Dop1b UTSW 16 93,568,681 (GRCm39) missense probably damaging 1.00
R9298:Dop1b UTSW 16 93,597,087 (GRCm39) missense probably damaging 0.96
R9338:Dop1b UTSW 16 93,600,448 (GRCm39) missense probably damaging 1.00
R9346:Dop1b UTSW 16 93,577,702 (GRCm39) critical splice donor site probably null
R9444:Dop1b UTSW 16 93,607,127 (GRCm39) missense probably benign 0.00
R9500:Dop1b UTSW 16 93,607,171 (GRCm39) missense probably benign
R9601:Dop1b UTSW 16 93,544,531 (GRCm39) missense possibly damaging 0.87
R9793:Dop1b UTSW 16 93,598,503 (GRCm39) missense probably benign 0.30
Z1088:Dop1b UTSW 16 93,560,214 (GRCm39) missense probably benign 0.00
Z1176:Dop1b UTSW 16 93,604,756 (GRCm39) missense possibly damaging 0.82
Z1176:Dop1b UTSW 16 93,600,434 (GRCm39) missense probably damaging 1.00
Z1176:Dop1b UTSW 16 93,566,469 (GRCm39) missense probably benign 0.00
Z1177:Dop1b UTSW 16 93,560,783 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGACAATTTTACAATGCTCTGTCTC -3'
(R):5'- TCGTGTCTGCAGACTCTGTG -3'

Sequencing Primer
(F):5'- CTGTTTTGCCCATGACTTGATACAG -3'
(R):5'- CCTGTCTGGAAGGTCCACATAGTAG -3'
Posted On 2014-08-25