Incidental Mutation 'R6260:Dip2b'
ID 506650
Institutional Source Beutler Lab
Gene Symbol Dip2b
Ensembl Gene ENSMUSG00000023026
Gene Name disco interacting protein 2 homolog B
Synonyms
MMRRC Submission 044377-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.596) question?
Stock # R6260 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 100038664-100219473 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100162702 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 253 (V253L)
Ref Sequence ENSEMBL: ENSMUSP00000023768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023768] [ENSMUST00000100203] [ENSMUST00000108971]
AlphaFold Q3UH60
Predicted Effect probably benign
Transcript: ENSMUST00000023768
AA Change: V253L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: V253L

DomainStartEndE-ValueType
Pfam:AMP-binding 109 584 9.5e-26 PFAM
Pfam:AMP-binding 760 1235 1.2e-52 PFAM
low complexity region 1299 1311 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100203
AA Change: V487L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: V487L

DomainStartEndE-ValueType
DMAP_binding 12 130 1e-42 SMART
low complexity region 152 168 N/A INTRINSIC
low complexity region 181 192 N/A INTRINSIC
Pfam:AMP-binding 341 817 2e-26 PFAM
Pfam:AMP-binding 993 1468 1.8e-64 PFAM
low complexity region 1532 1544 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108971
AA Change: V253L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104599
Gene: ENSMUSG00000023026
AA Change: V253L

DomainStartEndE-ValueType
Pfam:AMP-binding 108 583 9.5e-26 PFAM
Pfam:AMP-binding 759 1234 1.2e-52 PFAM
low complexity region 1298 1310 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230733
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 99% (77/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 80,008,987 (GRCm38) N1514K probably damaging Het
Abcb4 G T 5: 8,934,219 (GRCm38) G650* probably null Het
Acsbg1 T A 9: 54,628,467 (GRCm38) probably null Het
Alms1 A T 6: 85,628,735 (GRCm38) K2456* probably null Het
Alppl2 A T 1: 87,088,462 (GRCm38) M225K probably damaging Het
Ank2 C T 3: 126,943,557 (GRCm38) V2806I probably benign Het
Atxn10 A T 15: 85,462,411 (GRCm38) I457F probably benign Het
Cad G T 5: 31,066,800 (GRCm38) M800I probably null Het
Carmil3 T A 14: 55,500,432 (GRCm38) L815Q probably damaging Het
Ccz1 A G 5: 144,004,041 (GRCm38) probably null Het
Cdc73 G A 1: 143,691,473 (GRCm38) T104I probably benign Het
Cfap52 A T 11: 67,938,954 (GRCm38) C330S possibly damaging Het
Clec16a C T 16: 10,694,848 (GRCm38) probably benign Het
Cntn3 A G 6: 102,277,217 (GRCm38) probably null Het
Crocc2 A G 1: 93,213,638 (GRCm38) K1171R possibly damaging Het
Ctsa T C 2: 164,834,361 (GRCm38) V86A probably damaging Het
Dab1 C T 4: 104,731,751 (GRCm38) A524V probably benign Het
Ddhd2 A G 8: 25,752,117 (GRCm38) F244L probably benign Het
Ddn A G 15: 98,805,854 (GRCm38) V519A possibly damaging Het
Dnah17 C A 11: 118,126,322 (GRCm38) W197C probably damaging Het
Dnah17 C T 11: 118,126,323 (GRCm38) W197* probably null Het
Dnah17 A T 11: 118,126,324 (GRCm38) W197R probably damaging Het
Ercc6 T A 14: 32,557,856 (GRCm38) D609E probably benign Het
Erg C A 16: 95,380,241 (GRCm38) R147L probably damaging Het
Fbxo41 A T 6: 85,478,555 (GRCm38) L549H probably damaging Het
Foxd4 A G 19: 24,899,604 (GRCm38) S411P probably benign Het
Gaa C A 11: 119,281,171 (GRCm38) A700D probably benign Het
Galntl6 T A 8: 57,884,481 (GRCm38) D135V probably damaging Het
Gm1043 G C 5: 37,174,472 (GRCm38) G832A probably benign Het
Gm14085 A T 2: 122,523,482 (GRCm38) I530F probably damaging Het
Gm21103 C T 14: 6,303,847 (GRCm38) E68K probably damaging Het
Gm340 A T 19: 41,582,370 (GRCm38) S1C probably null Het
Gm340 G T 19: 41,582,371 (GRCm38) S1I possibly damaging Het
Gpam A G 19: 55,083,406 (GRCm38) V301A probably benign Het
H2-M10.1 T A 17: 36,324,102 (GRCm38) I304F unknown Het
Itgb4 C T 11: 115,984,157 (GRCm38) R447W probably benign Het
Jak3 C A 8: 71,679,310 (GRCm38) Q177K probably benign Het
Kcnu1 G A 8: 25,851,891 (GRCm38) R88H probably damaging Het
Kng1 A T 16: 23,058,621 (GRCm38) I60F possibly damaging Het
Krt77 A T 15: 101,864,372 (GRCm38) Y257* probably null Het
Lgr6 C T 1: 134,994,010 (GRCm38) A199T probably damaging Het
Map4k5 C A 12: 69,831,562 (GRCm38) R355L probably benign Het
Mefv C T 16: 3,713,034 (GRCm38) R498H probably benign Het
Mical3 A T 6: 121,009,030 (GRCm38) L150Q probably damaging Het
Mtcl1 T A 17: 66,343,541 (GRCm38) Q1340L probably damaging Het
Nfic A T 10: 81,420,517 (GRCm38) C126* probably null Het
Nisch T A 14: 31,177,128 (GRCm38) probably benign Het
Nt5dc3 A G 10: 86,811,531 (GRCm38) Y130C probably damaging Het
Olfr1309 C T 2: 111,984,051 (GRCm38) V8I probably benign Het
Olfr694 A T 7: 106,688,872 (GRCm38) N286K probably damaging Het
Olfr808 C A 10: 129,767,520 (GRCm38) T8K probably benign Het
Pcdhb12 T C 18: 37,436,839 (GRCm38) V346A probably benign Het
Pla2g4a A G 1: 149,857,487 (GRCm38) S504P probably benign Het
Plin2 G T 4: 86,657,289 (GRCm38) A341D probably damaging Het
Plxnb2 A T 15: 89,165,291 (GRCm38) I575N probably benign Het
Pnmal2 T G 7: 16,946,233 (GRCm38) W381G probably benign Het
Psma8 A G 18: 14,721,267 (GRCm38) D68G probably damaging Het
Rcor3 G A 1: 192,124,259 (GRCm38) H207Y probably benign Het
Rwdd2b C A 16: 87,434,468 (GRCm38) G266V probably damaging Het
Ryr3 A G 2: 112,660,104 (GRCm38) F3795S probably damaging Het
Sord T A 2: 122,259,132 (GRCm38) probably null Het
Spdl1 T A 11: 34,819,886 (GRCm38) N345I probably damaging Het
St8sia2 T A 7: 73,976,693 (GRCm38) R42S possibly damaging Het
Syt9 G T 7: 107,436,510 (GRCm38) V245F possibly damaging Het
Tbpl2 T A 2: 24,094,886 (GRCm38) N82I possibly damaging Het
Tcerg1 T A 18: 42,553,465 (GRCm38) Y696N probably damaging Het
Thsd7b A G 1: 129,667,918 (GRCm38) T492A probably benign Het
Timm13 A C 10: 80,900,301 (GRCm38) probably benign Het
Trdmt1 T A 2: 13,520,059 (GRCm38) Q195L probably benign Het
Ttc27 T A 17: 74,858,091 (GRCm38) V764D probably damaging Het
Ttc39d C A 17: 80,216,647 (GRCm38) S245* probably null Het
Ttc41 A T 10: 86,733,707 (GRCm38) T650S probably benign Het
Ttc41 A G 10: 86,731,159 (GRCm38) E563G probably benign Het
U2surp A C 9: 95,476,157 (GRCm38) L723R probably damaging Het
Ubqln3 G A 7: 104,142,317 (GRCm38) Q189* probably null Het
Vezf1 A G 11: 88,081,500 (GRCm38) N229S probably damaging Het
Vmn2r79 T A 7: 87,037,157 (GRCm38) M582K probably benign Het
Zfp518a A G 19: 40,914,123 (GRCm38) D832G probably benign Het
Zfyve28 T C 5: 34,198,872 (GRCm38) N762D probably damaging Het
Other mutations in Dip2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Dip2b APN 15 100,174,501 (GRCm38) missense probably damaging 1.00
IGL01716:Dip2b APN 15 100,209,636 (GRCm38) missense probably benign 0.00
IGL01893:Dip2b APN 15 100,171,220 (GRCm38) splice site probably benign
IGL01915:Dip2b APN 15 100,178,511 (GRCm38) missense probably damaging 1.00
IGL02125:Dip2b APN 15 100,186,250 (GRCm38) missense possibly damaging 0.60
IGL02200:Dip2b APN 15 100,151,202 (GRCm38) missense possibly damaging 0.93
IGL02506:Dip2b APN 15 100,157,281 (GRCm38) missense probably damaging 1.00
IGL02571:Dip2b APN 15 100,157,885 (GRCm38) missense possibly damaging 0.93
IGL02706:Dip2b APN 15 100,215,311 (GRCm38) missense probably damaging 0.98
IGL02983:Dip2b APN 15 100,132,022 (GRCm38) missense possibly damaging 0.81
IGL03120:Dip2b APN 15 100,203,127 (GRCm38) splice site probably benign
IGL03181:Dip2b APN 15 100,215,207 (GRCm38) missense probably damaging 0.98
IGL03229:Dip2b APN 15 100,207,838 (GRCm38) splice site probably benign
IGL03399:Dip2b APN 15 100,175,327 (GRCm38) missense possibly damaging 0.63
PIT4131001:Dip2b UTSW 15 100,202,352 (GRCm38) missense probably damaging 1.00
R0009:Dip2b UTSW 15 100,169,312 (GRCm38) missense probably damaging 1.00
R0058:Dip2b UTSW 15 100,215,240 (GRCm38) missense probably benign 0.03
R0058:Dip2b UTSW 15 100,215,240 (GRCm38) missense probably benign 0.03
R0092:Dip2b UTSW 15 100,202,265 (GRCm38) missense probably damaging 1.00
R0201:Dip2b UTSW 15 100,186,147 (GRCm38) missense probably damaging 0.98
R0359:Dip2b UTSW 15 100,211,993 (GRCm38) missense probably damaging 0.98
R0390:Dip2b UTSW 15 100,193,913 (GRCm38) missense probably damaging 0.99
R0564:Dip2b UTSW 15 100,162,719 (GRCm38) nonsense probably null
R0730:Dip2b UTSW 15 100,171,651 (GRCm38) missense probably damaging 1.00
R1144:Dip2b UTSW 15 100,154,250 (GRCm38) missense probably benign 0.11
R1200:Dip2b UTSW 15 100,209,745 (GRCm38) missense probably benign 0.00
R1506:Dip2b UTSW 15 100,183,113 (GRCm38) missense probably damaging 1.00
R1750:Dip2b UTSW 15 100,178,466 (GRCm38) missense probably benign
R1760:Dip2b UTSW 15 100,212,029 (GRCm38) missense probably damaging 1.00
R1773:Dip2b UTSW 15 100,193,961 (GRCm38) missense probably benign 0.00
R1812:Dip2b UTSW 15 100,198,938 (GRCm38) splice site probably null
R2264:Dip2b UTSW 15 100,203,216 (GRCm38) missense probably benign 0.05
R3105:Dip2b UTSW 15 100,142,137 (GRCm38) nonsense probably null
R4029:Dip2b UTSW 15 100,186,172 (GRCm38) missense probably damaging 1.00
R4030:Dip2b UTSW 15 100,186,172 (GRCm38) missense probably damaging 1.00
R4296:Dip2b UTSW 15 100,181,336 (GRCm38) missense probably benign
R4392:Dip2b UTSW 15 100,162,036 (GRCm38) missense probably damaging 1.00
R4480:Dip2b UTSW 15 100,186,301 (GRCm38) missense probably damaging 0.99
R4564:Dip2b UTSW 15 100,157,258 (GRCm38) nonsense probably null
R4605:Dip2b UTSW 15 100,209,636 (GRCm38) missense probably benign 0.00
R4606:Dip2b UTSW 15 100,215,329 (GRCm38) missense possibly damaging 0.91
R4634:Dip2b UTSW 15 100,160,491 (GRCm38) missense probably damaging 1.00
R4667:Dip2b UTSW 15 100,151,360 (GRCm38) missense probably benign 0.01
R4739:Dip2b UTSW 15 100,207,777 (GRCm38) missense probably damaging 0.98
R4826:Dip2b UTSW 15 100,169,281 (GRCm38) missense probably damaging 0.99
R4870:Dip2b UTSW 15 100,195,784 (GRCm38) splice site probably null
R4877:Dip2b UTSW 15 100,160,529 (GRCm38) missense possibly damaging 0.49
R4932:Dip2b UTSW 15 100,171,722 (GRCm38) missense probably damaging 1.00
R5009:Dip2b UTSW 15 100,195,784 (GRCm38) splice site probably null
R5169:Dip2b UTSW 15 100,205,113 (GRCm38) missense probably damaging 1.00
R5216:Dip2b UTSW 15 100,211,986 (GRCm38) missense probably damaging 1.00
R5218:Dip2b UTSW 15 100,154,296 (GRCm38) missense probably benign 0.00
R5274:Dip2b UTSW 15 100,212,104 (GRCm38) missense possibly damaging 0.54
R5370:Dip2b UTSW 15 100,211,986 (GRCm38) missense probably damaging 1.00
R5420:Dip2b UTSW 15 100,205,173 (GRCm38) intron probably benign
R5447:Dip2b UTSW 15 100,211,986 (GRCm38) missense probably damaging 1.00
R5670:Dip2b UTSW 15 100,190,104 (GRCm38) missense possibly damaging 0.80
R5768:Dip2b UTSW 15 100,157,945 (GRCm38) missense probably benign 0.32
R5908:Dip2b UTSW 15 100,151,184 (GRCm38) missense possibly damaging 0.93
R5957:Dip2b UTSW 15 100,209,694 (GRCm38) missense probably benign 0.03
R5987:Dip2b UTSW 15 100,190,079 (GRCm38) missense probably damaging 1.00
R6325:Dip2b UTSW 15 100,154,282 (GRCm38) missense probably benign 0.00
R6367:Dip2b UTSW 15 100,115,914 (GRCm38) missense possibly damaging 0.50
R6391:Dip2b UTSW 15 100,151,276 (GRCm38) missense probably damaging 1.00
R6422:Dip2b UTSW 15 100,199,011 (GRCm38) missense probably damaging 0.98
R6818:Dip2b UTSW 15 100,193,954 (GRCm38) missense probably benign 0.09
R6922:Dip2b UTSW 15 100,193,843 (GRCm38) missense probably benign 0.25
R7002:Dip2b UTSW 15 100,160,465 (GRCm38) missense probably benign 0.43
R7076:Dip2b UTSW 15 100,157,972 (GRCm38) splice site probably null
R7176:Dip2b UTSW 15 100,169,318 (GRCm38) missense probably damaging 1.00
R7255:Dip2b UTSW 15 100,209,627 (GRCm38) missense probably benign 0.00
R7463:Dip2b UTSW 15 100,154,157 (GRCm38) missense probably benign
R7513:Dip2b UTSW 15 100,207,748 (GRCm38) splice site probably null
R7876:Dip2b UTSW 15 100,191,041 (GRCm38) missense probably benign 0.02
R8368:Dip2b UTSW 15 100,154,243 (GRCm38) missense probably benign 0.00
R9289:Dip2b UTSW 15 100,173,271 (GRCm38) missense probably damaging 0.97
R9405:Dip2b UTSW 15 100,195,876 (GRCm38) missense probably benign 0.05
R9477:Dip2b UTSW 15 100,038,903 (GRCm38) missense probably damaging 1.00
R9485:Dip2b UTSW 15 100,155,043 (GRCm38) missense probably benign 0.05
R9533:Dip2b UTSW 15 100,175,297 (GRCm38) missense probably benign 0.06
R9581:Dip2b UTSW 15 100,181,374 (GRCm38) missense probably damaging 0.99
R9666:Dip2b UTSW 15 100,209,580 (GRCm38) missense probably damaging 1.00
X0064:Dip2b UTSW 15 100,115,850 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAAAGAAGCTGTGACTGGTG -3'
(R):5'- CTGTTCATAAACGCCAACTCTG -3'

Sequencing Primer
(F):5'- AAGAAGCTGTGACTGGTGATTTATC -3'
(R):5'- CGAAGGTCCATTACAAGACATTTAC -3'
Posted On 2018-03-15