Incidental Mutation 'R4111:Dip2c'
ID 317326
Institutional Source Beutler Lab
Gene Symbol Dip2c
Ensembl Gene ENSMUSG00000048264
Gene Name disco interacting protein 2 homolog C
Synonyms 2900024P20Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.711) question?
Stock # R4111 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 9276528-9668928 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 9637101 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 1254 (G1254C)
Ref Sequence ENSEMBL: ENSMUSP00000133806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166299] [ENSMUST00000169960] [ENSMUST00000174552]
AlphaFold E9PWR4
Predicted Effect probably damaging
Transcript: ENSMUST00000166299
AA Change: G1255C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126827
Gene: ENSMUSG00000048264
AA Change: G1255C

DomainStartEndE-ValueType
DMAP_binding 7 120 3.55e-43 SMART
low complexity region 170 187 N/A INTRINSIC
low complexity region 275 287 N/A INTRINSIC
Pfam:AMP-binding 324 801 3.6e-23 PFAM
Pfam:AMP-binding 977 1451 1.5e-72 PFAM
low complexity region 1514 1526 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169960
AA Change: G1225C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131238
Gene: ENSMUSG00000048264
AA Change: G1225C

DomainStartEndE-ValueType
DMAP_binding 7 176 3.02e-37 SMART
low complexity region 226 243 N/A INTRINSIC
low complexity region 331 343 N/A INTRINSIC
Pfam:AMP-binding 380 637 5.9e-10 PFAM
SCOP:d1lci__ 675 875 2e-8 SMART
Pfam:AMP-binding 947 1421 1.2e-56 PFAM
low complexity region 1484 1496 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000174552
AA Change: G1254C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133806
Gene: ENSMUSG00000048264
AA Change: G1254C

DomainStartEndE-ValueType
DMAP_binding 7 120 3.55e-43 SMART
low complexity region 170 187 N/A INTRINSIC
low complexity region 275 287 N/A INTRINSIC
Pfam:AMP-binding 324 800 2.7e-20 PFAM
Pfam:AMP-binding 976 1450 1.3e-56 PFAM
low complexity region 1513 1525 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000222280
AA Change: G357C
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223052
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
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 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,794,154 (GRCm38) C172* probably null Het
Acot10 A T 15: 20,666,526 (GRCm38) L43Q probably damaging Het
Alms1 G A 6: 85,620,888 (GRCm38) V1368I probably benign Het
Ambra1 T C 2: 91,900,558 (GRCm38) S894P probably damaging Het
Arhgef12 C A 9: 42,972,274 (GRCm38) G1320C probably damaging Het
Atg7 G C 6: 114,713,294 (GRCm38) G596R probably damaging Het
AY761184 T C 8: 21,702,663 (GRCm38) T106A possibly damaging Het
Birc6 T C 17: 74,566,015 (GRCm38) V423A probably damaging Het
Cdh17 T C 4: 11,814,628 (GRCm38) S728P probably damaging Het
Ctu2 G A 8: 122,476,517 (GRCm38) R24Q possibly damaging Het
Dclk3 T C 9: 111,469,080 (GRCm38) I564T probably damaging Het
Ddx39b T A 17: 35,243,364 (GRCm38) I42N possibly damaging Het
Dzip1 T A 14: 118,877,233 (GRCm38) K837* probably null Het
Epha1 G A 6: 42,358,838 (GRCm38) T955M possibly damaging Het
Etfbkmt T C 6: 149,144,591 (GRCm38) probably benign Het
Etfrf1 T C 6: 145,215,372 (GRCm38) Y23H probably damaging Het
Fat3 G A 9: 15,998,271 (GRCm38) S2145F probably damaging Het
Gm12355 A T 11: 98,625,397 (GRCm38) V50D probably damaging Het
Gm5611 T A 9: 17,030,693 (GRCm38) noncoding transcript Het
Gpr37l1 T C 1: 135,167,270 (GRCm38) T79A possibly damaging Het
Hrh3 C A 2: 180,102,850 (GRCm38) R99L possibly damaging Het
Hyls1 T A 9: 35,561,418 (GRCm38) Y234F probably damaging Het
Ifnar1 C A 16: 91,496,158 (GRCm38) P230T probably damaging Het
Impact T C 18: 12,976,033 (GRCm38) probably null Het
Kcna6 G C 6: 126,739,774 (GRCm38) R51G probably damaging Het
Lrpprc G A 17: 84,726,338 (GRCm38) T1037M probably benign Het
Olfr1239 C A 2: 89,418,100 (GRCm38) L104F probably benign Het
Olfr1440 T C 19: 12,394,301 (GRCm38) F13L probably damaging Het
Olfr430 T A 1: 174,069,433 (GRCm38) I45N probably damaging Het
Olfr979 C A 9: 40,000,898 (GRCm38) E110* probably null Het
Pask A G 1: 93,310,818 (GRCm38) V1315A probably damaging Het
Pramef25 T A 4: 143,949,905 (GRCm38) I210F possibly damaging Het
Prl7a2 A T 13: 27,665,067 (GRCm38) Y80N possibly damaging Het
Rhox3f G T X: 37,582,019 (GRCm38) E140* probably null Het
Rtn2 T C 7: 19,286,844 (GRCm38) S81P probably damaging Het
Sbf2 G A 7: 110,428,242 (GRCm38) P470S probably damaging Het
Sec31b G T 19: 44,524,529 (GRCm38) T507N possibly damaging Het
Sox30 A G 11: 46,017,214 (GRCm38) Y736C probably benign Het
Synj2 G A 17: 6,007,965 (GRCm38) G243S probably benign Het
Tbr1 C T 2: 61,811,732 (GRCm38) P184L probably benign Het
Tns1 T C 1: 73,941,932 (GRCm38) N1091S probably damaging Het
Trappc10 A G 10: 78,196,430 (GRCm38) F1008S probably benign Het
Ube4a T A 9: 44,948,949 (GRCm38) I272F probably damaging Het
Uhrf1bp1 T A 17: 27,886,090 (GRCm38) L586* probably null Het
Vmn1r122 A T 7: 21,133,513 (GRCm38) S206T probably damaging Het
Vmn2r1 A C 3: 64,089,755 (GRCm38) K277N probably benign Het
Vps13a T C 19: 16,640,628 (GRCm38) E2931G probably damaging Het
Wdr70 G T 15: 7,976,991 (GRCm38) Q360K probably benign Het
Wdr90 G T 17: 25,849,368 (GRCm38) Q1329K possibly damaging Het
Wrn T C 8: 33,352,155 (GRCm38) N37S probably benign Het
Yap1 A T 9: 7,938,431 (GRCm38) *358K probably null Het
Zfp964 T A 8: 69,664,104 (GRCm38) S450R probably benign Het
Zkscan2 T C 7: 123,482,684 (GRCm38) probably benign Het
Zmynd10 A T 9: 107,549,052 (GRCm38) K133* probably null Het
Other mutations in Dip2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Dip2c APN 13 9,493,108 (GRCm38) missense probably damaging 0.97
IGL00426:Dip2c APN 13 9,606,515 (GRCm38) missense probably damaging 1.00
IGL00503:Dip2c APN 13 9,567,898 (GRCm38) missense probably damaging 1.00
IGL00586:Dip2c APN 13 9,610,755 (GRCm38) missense probably damaging 1.00
IGL01306:Dip2c APN 13 9,575,143 (GRCm38) missense possibly damaging 0.72
IGL01580:Dip2c APN 13 9,637,088 (GRCm38) splice site probably null
IGL01985:Dip2c APN 13 9,553,267 (GRCm38) splice site probably benign
IGL02060:Dip2c APN 13 9,622,630 (GRCm38) missense probably damaging 0.98
IGL02122:Dip2c APN 13 9,506,659 (GRCm38) missense possibly damaging 0.48
IGL02170:Dip2c APN 13 9,606,335 (GRCm38) missense probably benign 0.03
IGL02211:Dip2c APN 13 9,610,847 (GRCm38) missense probably damaging 1.00
IGL02755:Dip2c APN 13 9,550,320 (GRCm38) critical splice donor site probably null
IGL02836:Dip2c APN 13 9,610,790 (GRCm38) missense probably damaging 0.98
IGL02935:Dip2c APN 13 9,662,146 (GRCm38) missense probably damaging 1.00
IGL03032:Dip2c APN 13 9,551,778 (GRCm38) missense probably damaging 1.00
ANU23:Dip2c UTSW 13 9,575,143 (GRCm38) missense possibly damaging 0.72
P0038:Dip2c UTSW 13 9,646,982 (GRCm38) missense probably damaging 1.00
R0009:Dip2c UTSW 13 9,621,903 (GRCm38) missense probably damaging 1.00
R0268:Dip2c UTSW 13 9,637,150 (GRCm38) missense probably damaging 1.00
R0271:Dip2c UTSW 13 9,615,775 (GRCm38) missense probably damaging 1.00
R0306:Dip2c UTSW 13 9,604,599 (GRCm38) missense probably benign 0.09
R0415:Dip2c UTSW 13 9,568,289 (GRCm38) splice site probably benign
R0519:Dip2c UTSW 13 9,563,208 (GRCm38) missense probably damaging 1.00
R0557:Dip2c UTSW 13 9,553,459 (GRCm38) missense possibly damaging 0.81
R0964:Dip2c UTSW 13 9,568,663 (GRCm38) missense probably benign 0.43
R0973:Dip2c UTSW 13 9,576,908 (GRCm38) missense probably damaging 0.99
R0973:Dip2c UTSW 13 9,576,908 (GRCm38) missense probably damaging 0.99
R0974:Dip2c UTSW 13 9,576,908 (GRCm38) missense probably damaging 0.99
R1101:Dip2c UTSW 13 9,634,744 (GRCm38) missense probably damaging 1.00
R1171:Dip2c UTSW 13 9,493,126 (GRCm38) missense possibly damaging 0.89
R1403:Dip2c UTSW 13 9,553,264 (GRCm38) splice site probably null
R1403:Dip2c UTSW 13 9,553,264 (GRCm38) splice site probably null
R1432:Dip2c UTSW 13 9,553,304 (GRCm38) missense probably damaging 0.99
R1481:Dip2c UTSW 13 9,551,866 (GRCm38) critical splice donor site probably null
R1588:Dip2c UTSW 13 9,665,864 (GRCm38) missense probably damaging 1.00
R1721:Dip2c UTSW 13 9,659,368 (GRCm38) missense probably damaging 1.00
R1726:Dip2c UTSW 13 9,575,428 (GRCm38) missense probably damaging 1.00
R1867:Dip2c UTSW 13 9,621,949 (GRCm38) missense possibly damaging 0.55
R1909:Dip2c UTSW 13 9,533,350 (GRCm38) missense probably benign 0.00
R2013:Dip2c UTSW 13 9,567,846 (GRCm38) nonsense probably null
R2022:Dip2c UTSW 13 9,551,800 (GRCm38) missense probably damaging 1.00
R2517:Dip2c UTSW 13 9,609,005 (GRCm38) missense probably damaging 1.00
R3746:Dip2c UTSW 13 9,601,473 (GRCm38) missense probably damaging 1.00
R3794:Dip2c UTSW 13 9,604,561 (GRCm38) missense probably damaging 0.99
R3884:Dip2c UTSW 13 9,551,858 (GRCm38) missense probably damaging 1.00
R4019:Dip2c UTSW 13 9,614,365 (GRCm38) missense probably damaging 0.99
R4110:Dip2c UTSW 13 9,637,101 (GRCm38) missense probably damaging 1.00
R4113:Dip2c UTSW 13 9,637,101 (GRCm38) missense probably damaging 1.00
R4256:Dip2c UTSW 13 9,609,056 (GRCm38) missense probably damaging 1.00
R4300:Dip2c UTSW 13 9,610,711 (GRCm38) missense probably damaging 1.00
R4494:Dip2c UTSW 13 9,571,062 (GRCm38) missense possibly damaging 0.64
R4739:Dip2c UTSW 13 9,533,339 (GRCm38) missense probably damaging 0.98
R4812:Dip2c UTSW 13 9,637,130 (GRCm38) nonsense probably null
R4814:Dip2c UTSW 13 9,536,860 (GRCm38) missense probably benign 0.07
R4816:Dip2c UTSW 13 9,575,150 (GRCm38) missense probably benign 0.37
R4828:Dip2c UTSW 13 9,560,679 (GRCm38) missense probably damaging 1.00
R4915:Dip2c UTSW 13 9,621,869 (GRCm38) splice site probably null
R4917:Dip2c UTSW 13 9,621,869 (GRCm38) splice site probably null
R4932:Dip2c UTSW 13 9,623,972 (GRCm38) missense probably damaging 0.99
R4993:Dip2c UTSW 13 9,575,223 (GRCm38) nonsense probably null
R5043:Dip2c UTSW 13 9,551,827 (GRCm38) missense possibly damaging 0.80
R5349:Dip2c UTSW 13 9,622,653 (GRCm38) missense probably damaging 1.00
R5744:Dip2c UTSW 13 9,568,405 (GRCm38) missense probably damaging 1.00
R5840:Dip2c UTSW 13 9,506,676 (GRCm38) missense possibly damaging 0.68
R6110:Dip2c UTSW 13 9,623,766 (GRCm38) missense probably damaging 1.00
R6160:Dip2c UTSW 13 9,533,254 (GRCm38) missense probably benign 0.01
R6161:Dip2c UTSW 13 9,647,007 (GRCm38) missense probably damaging 1.00
R6477:Dip2c UTSW 13 9,623,760 (GRCm38) missense probably damaging 1.00
R6522:Dip2c UTSW 13 9,575,228 (GRCm38) critical splice donor site probably null
R6603:Dip2c UTSW 13 9,654,588 (GRCm38) splice site probably null
R6658:Dip2c UTSW 13 9,493,177 (GRCm38) critical splice donor site probably null
R6672:Dip2c UTSW 13 9,567,830 (GRCm38) critical splice acceptor site probably null
R6697:Dip2c UTSW 13 9,621,913 (GRCm38) missense probably damaging 1.00
R6991:Dip2c UTSW 13 9,634,832 (GRCm38) missense probably damaging 1.00
R6991:Dip2c UTSW 13 9,551,860 (GRCm38) nonsense probably null
R7018:Dip2c UTSW 13 9,659,278 (GRCm38) missense probably damaging 1.00
R7053:Dip2c UTSW 13 9,610,704 (GRCm38) missense probably damaging 1.00
R7102:Dip2c UTSW 13 9,604,536 (GRCm38) missense probably benign 0.01
R7171:Dip2c UTSW 13 9,506,648 (GRCm38) missense probably benign 0.34
R7371:Dip2c UTSW 13 9,592,749 (GRCm38) missense probably benign 0.02
R7395:Dip2c UTSW 13 9,614,377 (GRCm38) missense probably damaging 1.00
R7489:Dip2c UTSW 13 9,533,312 (GRCm38) missense probably damaging 0.99
R7575:Dip2c UTSW 13 9,628,012 (GRCm38) missense probably damaging 0.97
R7642:Dip2c UTSW 13 9,622,705 (GRCm38) critical splice donor site probably null
R7687:Dip2c UTSW 13 9,604,581 (GRCm38) missense probably benign 0.00
R7699:Dip2c UTSW 13 9,659,311 (GRCm38) missense probably benign 0.00
R7700:Dip2c UTSW 13 9,659,311 (GRCm38) missense probably benign 0.00
R7715:Dip2c UTSW 13 9,614,391 (GRCm38) missense probably damaging 1.00
R7842:Dip2c UTSW 13 9,606,533 (GRCm38) critical splice donor site probably null
R7845:Dip2c UTSW 13 9,609,044 (GRCm38) missense probably damaging 1.00
R8354:Dip2c UTSW 13 9,621,882 (GRCm38) missense probably benign 0.05
R8685:Dip2c UTSW 13 9,637,125 (GRCm38) missense probably benign 0.01
R8779:Dip2c UTSW 13 9,610,809 (GRCm38) missense probably damaging 0.98
R8786:Dip2c UTSW 13 9,615,794 (GRCm38) missense probably damaging 0.99
R8815:Dip2c UTSW 13 9,623,798 (GRCm38) nonsense probably null
R8833:Dip2c UTSW 13 9,575,483 (GRCm38) critical splice donor site probably null
R8868:Dip2c UTSW 13 9,575,467 (GRCm38) missense possibly damaging 0.73
R8873:Dip2c UTSW 13 9,575,146 (GRCm38) missense probably benign 0.03
R8887:Dip2c UTSW 13 9,623,953 (GRCm38) splice site probably benign
R8923:Dip2c UTSW 13 9,623,865 (GRCm38) missense probably damaging 1.00
R9112:Dip2c UTSW 13 9,610,730 (GRCm38) missense probably damaging 1.00
R9424:Dip2c UTSW 13 9,659,395 (GRCm38) missense probably damaging 1.00
R9474:Dip2c UTSW 13 9,494,927 (GRCm38) missense unknown
R9527:Dip2c UTSW 13 9,494,839 (GRCm38) missense unknown
R9593:Dip2c UTSW 13 9,654,647 (GRCm38) missense possibly damaging 0.89
R9615:Dip2c UTSW 13 9,575,155 (GRCm38) missense probably benign 0.03
R9801:Dip2c UTSW 13 9,576,900 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTTCTTCAGCTGACTGGC -3'
(R):5'- GAAACTTACCTGTAAGCAAATTGCC -3'

Sequencing Primer
(F):5'- CAGCTGACTGGCTTGGCTAG -3'
(R):5'- CCTGTAAGCAAATTGCCAGGTTC -3'
Posted On 2015-05-15