Incidental Mutation 'R4739:Dip2b'
ID 359554
Institutional Source Beutler Lab
Gene Symbol Dip2b
Ensembl Gene ENSMUSG00000023026
Gene Name disco interacting protein 2 homolog B
Synonyms
MMRRC Submission 042025-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.596) question?
Stock # R4739 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 100038664-100219473 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100207777 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1138 (V1138A)
Ref Sequence ENSEMBL: ENSMUSP00000023768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023768] [ENSMUST00000100203] [ENSMUST00000108971]
AlphaFold Q3UH60
Predicted Effect probably damaging
Transcript: ENSMUST00000023768
AA Change: V1138A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023768
Gene: ENSMUSG00000023026
AA Change: V1138A

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 possibly damaging
Transcript: ENSMUST00000100203
AA Change: V1372A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097777
Gene: ENSMUSG00000023026
AA Change: V1372A

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 damaging
Transcript: ENSMUST00000108971
AA Change: V1138A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104599
Gene: ENSMUSG00000023026
AA Change: V1138A

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: ENSMUST00000135658
Meta Mutation Damage Score 0.5980 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 96% (102/106)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik C T 1: 158,969,334 (GRCm38) noncoding transcript Het
2300002M23Rik A G 17: 35,567,506 (GRCm38) probably benign Het
Aadat T C 8: 60,540,106 (GRCm38) V360A probably benign Het
Abcc5 T A 16: 20,399,626 (GRCm38) D283V probably damaging Het
Abraxas1 T A 5: 100,812,020 (GRCm38) K155N probably damaging Het
Acot3 T C 12: 84,058,590 (GRCm38) I277T probably benign Het
Ankrd45 G A 1: 161,155,390 (GRCm38) C157Y probably damaging Het
Apol10a C T 15: 77,488,641 (GRCm38) T159I possibly damaging Het
Arhgef11 G A 3: 87,697,999 (GRCm38) V214M possibly damaging Het
Ash1l A C 3: 88,982,845 (GRCm38) N677T probably benign Het
Atg13 A G 2: 91,684,695 (GRCm38) S254P probably damaging Het
Atg16l2 A G 7: 101,297,178 (GRCm38) L129P probably damaging Het
Avl9 T A 6: 56,726,309 (GRCm38) V120D probably damaging Het
Cc2d1b T C 4: 108,628,042 (GRCm38) V527A probably benign Het
Ccnl1 A G 3: 65,946,671 (GRCm38) probably benign Het
Cenpl T A 1: 161,083,267 (GRCm38) D261E probably damaging Het
Cep192 T G 18: 67,851,732 (GRCm38) I1604M probably benign Het
Cep95 A G 11: 106,815,734 (GRCm38) I573V probably benign Het
Cfap100 A G 6: 90,412,843 (GRCm38) probably null Het
Cmc1 T A 9: 118,075,177 (GRCm38) M49L probably benign Het
Cyfip2 G T 11: 46,279,993 (GRCm38) N176K probably damaging Het
Cyp2w1 T C 5: 139,356,675 (GRCm38) F408L probably damaging Het
D630045J12Rik G A 6: 38,196,036 (GRCm38) S399F possibly damaging Het
Dcbld2 T A 16: 58,460,976 (GRCm38) L528Q probably damaging Het
Dip2c T A 13: 9,533,339 (GRCm38) L119Q probably damaging Het
Dnah3 T C 7: 120,077,946 (GRCm38) D444G possibly damaging Het
Dsg1c A T 18: 20,275,189 (GRCm38) N432Y possibly damaging Het
Dst T A 1: 34,191,147 (GRCm38) I2785N probably benign Het
Dynap A T 18: 70,241,225 (GRCm38) Y77N possibly damaging Het
Eif4g3 T C 4: 138,183,199 (GRCm38) L1330P possibly damaging Het
Eif4g3 T A 4: 138,198,097 (GRCm38) S1584T probably benign Het
Enpp1 A T 10: 24,679,248 (GRCm38) C67S probably null Het
Enpp5 C T 17: 44,081,136 (GRCm38) T152I probably damaging Het
Erbb4 T C 1: 68,343,900 (GRCm38) M313V probably damaging Het
Erc2 T G 14: 27,776,881 (GRCm38) L238R probably damaging Het
Eya3 T A 4: 132,721,387 (GRCm38) probably benign Het
Farp1 T C 14: 121,238,787 (GRCm38) F339L probably damaging Het
Fsip2 A C 2: 82,975,353 (GRCm38) D672A possibly damaging Het
Gap43 G T 16: 42,292,218 (GRCm38) P60Q probably benign Het
Gatsl3 A G 11: 4,219,004 (GRCm38) E57G possibly damaging Het
Gpr37l1 T A 1: 135,167,045 (GRCm38) I154F probably damaging Het
Greb1 A G 12: 16,696,328 (GRCm38) S1314P probably damaging Het
Hectd4 A T 5: 121,348,442 (GRCm38) M3167L probably benign Het
Hps3 C T 3: 20,030,410 (GRCm38) probably null Het
Hps5 A G 7: 46,786,589 (GRCm38) C178R probably benign Het
Hspg2 T A 4: 137,570,073 (GRCm38) probably benign Het
Impdh2-ps A G 8: 100,031,207 (GRCm38) noncoding transcript Het
Josd2 T A 7: 44,471,254 (GRCm38) N138K probably damaging Het
Mtmr6 T G 14: 60,292,097 (GRCm38) M315R probably damaging Het
Mtrf1 G A 14: 79,413,080 (GRCm38) V323M probably damaging Het
Myo16 G T 8: 10,373,527 (GRCm38) G288W probably damaging Het
Myo18a T C 11: 77,823,323 (GRCm38) Y748H probably damaging Het
Narfl A T 17: 25,781,309 (GRCm38) H322L probably damaging Het
Nek1 A T 8: 61,098,511 (GRCm38) N853I probably benign Het
Npnt T G 3: 132,904,691 (GRCm38) T272P possibly damaging Het
Olfr11 T A 13: 21,639,170 (GRCm38) M118L possibly damaging Het
Olfr1390 G A 11: 49,341,321 (GRCm38) G263D probably benign Het
Olfr558 T A 7: 102,710,171 (GRCm38) I304N probably damaging Het
Olfr668 G A 7: 104,924,810 (GRCm38) T318I possibly damaging Het
Olfr694 C A 7: 106,689,144 (GRCm38) E196* probably null Het
Olfr76 A G 19: 12,119,870 (GRCm38) Y269H possibly damaging Het
Pappa2 T C 1: 158,957,012 (GRCm38) R143G probably benign Het
Pappa2 T G 1: 158,957,002 (GRCm38) D146A probably damaging Het
Pcsk9 C T 4: 106,447,156 (GRCm38) G496R probably damaging Het
Pes1 A G 11: 3,964,058 (GRCm38) K8E probably damaging Het
Phlpp2 G A 8: 109,940,420 (GRCm38) G1194S probably damaging Het
Pkn1 A C 8: 83,671,749 (GRCm38) V763G probably damaging Het
Pkp2 C A 16: 16,230,724 (GRCm38) A331E probably damaging Het
Plb1 T A 5: 32,349,679 (GRCm38) probably null Het
Plxna1 A T 6: 89,332,675 (GRCm38) probably null Het
Polq C T 16: 37,041,747 (GRCm38) T264M probably damaging Het
Prkag3 T C 1: 74,740,705 (GRCm38) *490W probably null Het
Prl2c1 T C 13: 27,857,678 (GRCm38) C228R probably damaging Het
Pus7l T C 15: 94,540,710 (GRCm38) S85G probably benign Het
Rfc3 A C 5: 151,644,776 (GRCm38) probably benign Het
Riox2 A G 16: 59,489,369 (GRCm38) N362S probably benign Het
Rnf219 C T 14: 104,510,383 (GRCm38) D43N probably damaging Het
Scaper A T 9: 55,743,648 (GRCm38) D904E probably damaging Het
Scn11a T C 9: 119,754,561 (GRCm38) M1663V probably benign Het
Slc13a3 A T 2: 165,430,289 (GRCm38) I278N possibly damaging Het
Slc22a7 T C 17: 46,434,997 (GRCm38) E278G probably damaging Het
Snrnp48 T A 13: 38,209,917 (GRCm38) M66K probably damaging Het
Styk1 T G 6: 131,300,466 (GRCm38) E404A probably damaging Het
Synj1 T A 16: 90,955,419 (GRCm38) H1016L probably benign Het
Tbc1d8 G A 1: 39,402,878 (GRCm38) T211I possibly damaging Het
Tjp2 T C 19: 24,120,111 (GRCm38) probably null Het
Tmem87a A G 2: 120,360,037 (GRCm38) probably null Het
Trappc9 T G 15: 72,937,060 (GRCm38) Y718S probably damaging Het
Ttn A T 2: 76,811,243 (GRCm38) L5176Q possibly damaging Het
Ubqlnl C T 7: 104,149,718 (GRCm38) V191M probably benign Het
Ugt2a3 C T 5: 87,327,195 (GRCm38) G397R probably damaging Het
Wdr33 T A 18: 31,886,086 (GRCm38) M454K probably benign Het
Wdtc1 G T 4: 133,301,799 (GRCm38) N325K possibly damaging Het
Whrn T C 4: 63,418,165 (GRCm38) H720R probably damaging Het
Xirp2 A T 2: 67,519,265 (GRCm38) D3268V probably damaging Het
Zc3h7a A T 16: 11,141,709 (GRCm38) H793Q probably damaging Het
Zfp518b C T 5: 38,674,498 (GRCm38) A55T possibly damaging Het
Zmynd8 G A 2: 165,805,329 (GRCm38) T901M 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
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
R6260:Dip2b UTSW 15 100,162,702 (GRCm38) missense probably benign 0.05
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'- AGGACCCTTTGAGTGATGGC -3'
(R):5'- AAATCCAGGATTCCCAATAGAGG -3'

Sequencing Primer
(F):5'- CCCTTTGAGTGATGGCTGCTTC -3'
(R):5'- GGAATGCAGTGGAGTCCAGTTC -3'
Posted On 2015-11-11