Incidental Mutation 'R0626:Dop1b'
ID 57552
Institutional Source Beutler Lab
Gene Symbol Dop1b
Ensembl Gene ENSMUSG00000022946
Gene Name DOP1 leucine zipper like protein B
Synonyms Dopey2, 0610038M01Rik, 2610510B01Rik
MMRRC Submission 038815-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0626 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 93508795-93607476 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93560844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 776 (V776A)
Ref Sequence ENSEMBL: ENSMUSP00000154771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045004] [ENSMUST00000227156]
AlphaFold Q3UHQ6
Predicted Effect probably damaging
Transcript: ENSMUST00000045004
AA Change: V894A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044437
Gene: ENSMUSG00000022946
AA Change: V894A

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: V104A
Predicted Effect unknown
Transcript: ENSMUST00000226836
AA Change: V56A
Predicted Effect probably damaging
Transcript: ENSMUST00000227156
AA Change: V776A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 108 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,679,547 (GRCm39) probably benign Het
6430571L13Rik T A 9: 107,219,707 (GRCm39) D53E possibly damaging Het
A2ml1 T A 6: 128,527,736 (GRCm39) N1018I probably damaging Het
Abi3 C A 11: 95,727,937 (GRCm39) A85S probably benign Het
Acsl5 A T 19: 55,272,904 (GRCm39) M340L probably benign Het
Adam29 T A 8: 56,324,612 (GRCm39) H614L probably benign Het
Adgrg6 A T 10: 14,312,628 (GRCm39) S720T probably damaging Het
Adrb2 G T 18: 62,312,441 (GRCm39) A128E probably damaging Het
Afap1l1 T C 18: 61,872,291 (GRCm39) E510G probably benign Het
Angel1 A G 12: 86,764,487 (GRCm39) probably null Het
Aox3 T G 1: 58,211,458 (GRCm39) I1005S possibly damaging Het
Apc C A 18: 34,451,507 (GRCm39) P2767Q probably damaging Het
Apob T G 12: 8,066,193 (GRCm39) D4387E probably benign Het
Apobr T C 7: 126,185,827 (GRCm39) V446A possibly damaging Het
Arhgap28 A T 17: 68,203,108 (GRCm39) probably null Het
Aspm G T 1: 139,419,339 (GRCm39) K3001N probably damaging Het
Asxl3 G T 18: 22,655,937 (GRCm39) V1316F probably benign Het
Atp2a1 T A 7: 126,046,162 (GRCm39) probably null Het
Bach1 A G 16: 87,526,359 (GRCm39) D607G possibly damaging Het
Batf3 A G 1: 190,832,935 (GRCm39) D27G probably damaging Het
Baz1a G T 12: 55,022,055 (GRCm39) Q76K probably damaging Het
Bdnf G A 2: 109,553,883 (GRCm39) V86M probably benign Het
Birc7 A G 2: 180,573,098 (GRCm39) I172V probably benign Het
Bod1l A C 5: 41,988,880 (GRCm39) V409G probably damaging Het
Cacna1e T A 1: 154,364,563 (GRCm39) E337V probably damaging Het
Cacna1h A G 17: 25,612,520 (GRCm39) F287L possibly damaging Het
Ces1e A G 8: 93,950,671 (GRCm39) Y37H probably benign Het
Clasrp A T 7: 19,318,418 (GRCm39) probably benign Het
Clec2d T A 6: 129,160,090 (GRCm39) S35T probably damaging Het
Cntn4 T A 6: 106,639,539 (GRCm39) D556E probably benign Het
Cntnap5c A T 17: 58,349,422 (GRCm39) D245V probably benign Het
Col5a1 T A 2: 27,818,255 (GRCm39) L160* probably null Het
Col6a6 T C 9: 105,654,943 (GRCm39) E926G probably benign Het
Cpsf2 T A 12: 101,951,490 (GRCm39) H142Q probably benign Het
Cr2 A C 1: 194,853,419 (GRCm39) S20A possibly damaging Het
Ct45a G A X: 55,590,399 (GRCm39) P134L probably benign Het
Cyp2j5 A T 4: 96,547,749 (GRCm39) H164Q probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Dmbt1 G A 7: 130,703,811 (GRCm39) V1124M probably damaging Het
Dmxl2 T C 9: 54,323,838 (GRCm39) H1182R probably damaging Het
Dnah2 A T 11: 69,368,509 (GRCm39) S1709T probably benign Het
Emc3 T C 6: 113,492,992 (GRCm39) T220A probably benign Het
Entpd1 A C 19: 40,715,769 (GRCm39) N312T probably benign Het
Fam8a1 A T 13: 46,824,699 (GRCm39) I229F probably damaging Het
Fancc G A 13: 63,465,205 (GRCm39) P501S probably damaging Het
Fasn T C 11: 120,702,751 (GRCm39) R1704G probably damaging Het
Fsip2 A G 2: 82,819,302 (GRCm39) I5012V probably benign Het
Glce T C 9: 61,968,282 (GRCm39) T290A probably benign Het
Gns G A 10: 121,219,349 (GRCm39) probably null Het
Gsdma2 A G 11: 98,542,810 (GRCm39) N190S probably damaging Het
Hectd4 T A 5: 121,415,887 (GRCm39) S563T probably benign Het
Hmcn1 T C 1: 150,674,470 (GRCm39) probably null Het
Jup A T 11: 100,267,589 (GRCm39) M578K probably benign Het
Kir3dl1 G A X: 135,434,594 (GRCm39) probably null Het
Krt75 A G 15: 101,482,025 (GRCm39) F81S probably benign Het
Lrp1 G T 10: 127,403,233 (GRCm39) D2113E probably damaging Het
Maged2 T A X: 149,594,830 (GRCm39) N176Y probably damaging Het
Mrc1 T A 2: 14,333,382 (GRCm39) C1354* probably null Het
Mup7 A C 4: 60,069,742 (GRCm39) V74G possibly damaging Het
Naca A G 10: 127,877,031 (GRCm39) probably benign Het
Nav3 T G 10: 109,659,325 (GRCm39) Y764S probably damaging Het
Nkpd1 A T 7: 19,257,099 (GRCm39) T293S probably benign Het
Numb A G 12: 83,842,614 (GRCm39) Y510H probably damaging Het
Nynrin T G 14: 56,105,492 (GRCm39) L834R probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2ak5 G T 11: 58,611,347 (GRCm39) H176N probably benign Het
Or8g18 T A 9: 39,149,162 (GRCm39) N186I possibly damaging Het
Otog T C 7: 45,920,797 (GRCm39) V1000A possibly damaging Het
Pafah1b3 A G 7: 24,996,554 (GRCm39) V43A possibly damaging Het
Pcnx1 A G 12: 82,030,450 (GRCm39) Y1775C possibly damaging Het
Phka1 G A X: 101,564,437 (GRCm39) R1074C probably damaging Het
Pi4ka T A 16: 17,111,765 (GRCm39) Y1570F probably benign Het
Piezo2 T C 18: 63,152,329 (GRCm39) K2588E probably damaging Het
Pkd1 A G 17: 24,794,549 (GRCm39) T2079A probably damaging Het
Plekhd1 G T 12: 80,764,075 (GRCm39) Q212H probably damaging Het
Plekhh1 C T 12: 79,087,359 (GRCm39) R16* probably null Het
Polm C A 11: 5,786,207 (GRCm39) R120L probably damaging Het
Ptpn22 T C 3: 103,767,721 (GRCm39) M1T probably null Het
Ptprh G A 7: 4,567,271 (GRCm39) L534F probably benign Het
Rabl6 C T 2: 25,482,778 (GRCm39) probably null Het
Rap2a A G 14: 120,716,403 (GRCm39) S89G probably damaging Het
Rara A T 11: 98,862,406 (GRCm39) probably null Het
Reck A G 4: 43,930,295 (GRCm39) D623G probably benign Het
Relt A T 7: 100,498,023 (GRCm39) L237Q probably damaging Het
Rngtt A G 4: 33,329,598 (GRCm39) probably null Het
Rtn4rl2 T G 2: 84,710,763 (GRCm39) Y167S probably damaging Het
Sec24c C T 14: 20,738,505 (GRCm39) R353C probably damaging Het
Slc35g2 T C 9: 100,435,495 (GRCm39) S59G probably benign Het
Smarcd2 A T 11: 106,158,241 (GRCm39) M107K probably benign Het
Smg1 T C 7: 117,781,606 (GRCm39) N1227S possibly damaging Het
Snrnp200 A G 2: 127,063,734 (GRCm39) N638D possibly damaging Het
Sntb1 A G 15: 55,506,179 (GRCm39) S465P probably benign Het
Sp4 A G 12: 118,263,314 (GRCm39) L244P probably damaging Het
Sulf1 A G 1: 12,887,716 (GRCm39) probably null Het
Tbc1d17 T C 7: 44,492,509 (GRCm39) T385A probably benign Het
Tbx10 C A 19: 4,047,873 (GRCm39) D206E probably benign Het
Tcea2 C T 2: 181,329,431 (GRCm39) P275S probably damaging Het
Tns3 C A 11: 8,443,121 (GRCm39) R414L probably benign Het
Trip11 T C 12: 101,852,235 (GRCm39) R610G possibly damaging Het
Ugt2b1 T C 5: 87,073,720 (GRCm39) K213R probably null Het
Unc80 A G 1: 66,647,601 (GRCm39) S1514G probably benign Het
Usp7 G T 16: 8,511,778 (GRCm39) Q867K possibly damaging Het
Vim T C 2: 13,579,463 (GRCm39) V74A probably benign Het
Vmn1r234 A G 17: 21,450,007 (GRCm39) Y307C probably benign Het
Vmn2r74 A T 7: 85,610,517 (GRCm39) Y58* probably null Het
Wdr36 C A 18: 32,983,584 (GRCm39) A445E probably damaging Het
Xpo5 T A 17: 46,532,359 (GRCm39) W465R probably damaging Het
Zscan4d T A 7: 10,898,946 (GRCm39) R110S probably damaging 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
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
R2029:Dop1b UTSW 16 93,566,323 (GRCm39) missense probably benign 0.36
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'- TACCCCGGCAATGGGACAGTTAAG -3'
(R):5'- GTGTGCATCGGGACATCTACTGAG -3'

Sequencing Primer
(F):5'- AGGTCTTGACCAGGCAACTC -3'
(R):5'- CTTAGCTTGAGTGGGAACAACC -3'
Posted On 2013-07-11