Incidental Mutation 'IGL00924:Dlc1'
ID28023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dlc1
Ensembl Gene ENSMUSG00000031523
Gene Namedeleted in liver cancer 1
SynonymsArhgap7, A730069N07Rik, STARD12, p122-RhoGAP
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00924
Quality Score
Status
Chromosome8
Chromosomal Location36567751-36953143 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36938214 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 140 (S140R)
Ref Sequence ENSEMBL: ENSMUSP00000132812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163663] [ENSMUST00000179501]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000036104
Predicted Effect probably benign
Transcript: ENSMUST00000163663
AA Change: S140R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: S140R

DomainStartEndE-ValueType
low complexity region 353 369 N/A INTRINSIC
low complexity region 388 403 N/A INTRINSIC
Pfam:SAM_2 466 527 1.2e-7 PFAM
low complexity region 605 625 N/A INTRINSIC
low complexity region 689 701 N/A INTRINSIC
low complexity region 749 776 N/A INTRINSIC
low complexity region 878 892 N/A INTRINSIC
RhoGAP 1104 1296 8.82e-59 SMART
START 1338 1539 3.93e-59 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178717
Predicted Effect probably benign
Transcript: ENSMUST00000179501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179652
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. This gene functions as a tumor suppressor gene in a number of common cancers, including prostate, lung, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous mutants die by E10.5 with variable defects in the neural tube, heart, brain and placenta. Mouse embryonic fibroblasts homozygous for an activated conditional allele exhibti increased sensitivity to Ras-induced transformation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,215,862 V112A probably benign Het
Atp1a4 T A 1: 172,246,772 I305F probably damaging Het
AW209491 A G 13: 14,637,075 N171S probably damaging Het
Bank1 G T 3: 136,247,634 A120E probably damaging Het
Bdp1 T A 13: 100,097,579 E206D possibly damaging Het
Brd1 T C 15: 88,729,409 K428E possibly damaging Het
C530008M17Rik A G 5: 76,858,986 T1065A unknown Het
Ccdc42 A G 11: 68,594,621 I191V probably benign Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Cpm T G 10: 117,676,066 I305S probably damaging Het
Dnajc14 A G 10: 128,817,319 T674A probably benign Het
Dnajc7 A G 11: 100,584,285 I437T possibly damaging Het
Entpd5 A T 12: 84,387,054 V147E probably damaging Het
Gpr139 A G 7: 119,184,287 C30R probably benign Het
Habp4 A G 13: 64,174,071 D174G probably damaging Het
Has3 T C 8: 106,878,599 F479S probably benign Het
Helb T A 10: 120,110,984 K141N probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kdm1b G A 13: 47,068,480 R465H probably benign Het
Lrrc57 A T 2: 120,606,051 M86K possibly damaging Het
Map7d1 A G 4: 126,238,605 V258A probably damaging Het
Mybbp1a T A 11: 72,443,567 F216Y probably damaging Het
Ncan T A 8: 70,108,389 M643L possibly damaging Het
Ngdn T C 14: 55,023,169 I278T probably damaging Het
Olfr1199 T C 2: 88,756,156 D173G possibly damaging Het
Olfr460 C T 6: 40,571,454 R23C probably benign Het
P4hb G T 11: 120,563,818 Q245K probably benign Het
Pcx G A 19: 4,620,937 V1089I probably benign Het
Phc3 A T 3: 30,936,475 M498K probably damaging Het
Pkd1 T A 17: 24,571,627 L1025* probably null Het
Sdhaf2 G A 19: 10,517,016 P110S probably damaging Het
Slc22a20 T C 19: 5,970,516 K538E probably benign Het
Soga1 T G 2: 157,040,705 M476L probably damaging Het
Spag11b T A 8: 19,142,640 V78D probably damaging Het
Tgm3 T C 2: 130,038,374 C367R probably damaging Het
Unc5a G A 13: 55,004,514 E741K probably damaging Het
Vmn2r58 A T 7: 41,837,467 L668H probably damaging Het
Wdr62 G A 7: 30,265,218 T367I probably damaging Het
Wdr62 G A 7: 30,242,806 P603S probably damaging Het
Xab2 G A 8: 3,611,723 R577W probably damaging Het
Other mutations in Dlc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Dlc1 APN 8 36570282 utr 3 prime probably benign
IGL00807:Dlc1 APN 8 36572848 missense probably benign 0.01
IGL01349:Dlc1 APN 8 36583824 missense probably damaging 0.96
IGL01419:Dlc1 APN 8 36850217 missense probably benign 0.02
IGL01871:Dlc1 APN 8 36850180 missense probably damaging 0.99
IGL01937:Dlc1 APN 8 36850191 missense probably benign 0.25
IGL02525:Dlc1 APN 8 36579646 missense probably damaging 1.00
IGL02696:Dlc1 APN 8 36574172 missense possibly damaging 0.65
IGL02826:Dlc1 APN 8 36570275 utr 3 prime probably benign
IGL03029:Dlc1 APN 8 36571262 splice site probably null
IGL02835:Dlc1 UTSW 8 36583901 missense probably damaging 1.00
R0068:Dlc1 UTSW 8 36937721 missense probably benign
R0068:Dlc1 UTSW 8 36937721 missense probably benign
R0164:Dlc1 UTSW 8 36599440 missense probably damaging 0.96
R0164:Dlc1 UTSW 8 36599440 missense probably damaging 0.96
R0218:Dlc1 UTSW 8 36850229 missense probably benign
R0419:Dlc1 UTSW 8 36583586 missense possibly damaging 0.69
R0513:Dlc1 UTSW 8 36584010 missense probably damaging 1.00
R0645:Dlc1 UTSW 8 36574049 missense possibly damaging 0.60
R0646:Dlc1 UTSW 8 36858051 missense probably benign
R0727:Dlc1 UTSW 8 36572674 missense probably damaging 0.99
R0792:Dlc1 UTSW 8 36938548 missense probably benign 0.00
R1061:Dlc1 UTSW 8 36858051 missense probably benign
R1221:Dlc1 UTSW 8 36584831 missense probably benign
R1440:Dlc1 UTSW 8 36593463 splice site probably benign
R1501:Dlc1 UTSW 8 36938148 missense probably benign 0.06
R1606:Dlc1 UTSW 8 36850252 missense probably benign
R1707:Dlc1 UTSW 8 36937609 missense probably benign 0.03
R1750:Dlc1 UTSW 8 36858090 splice site probably null
R1762:Dlc1 UTSW 8 36937585 missense probably benign 0.25
R2041:Dlc1 UTSW 8 36582768 missense probably damaging 1.00
R2055:Dlc1 UTSW 8 36593381 missense probably damaging 0.98
R2091:Dlc1 UTSW 8 36937609 missense probably benign 0.00
R2987:Dlc1 UTSW 8 36574152 missense probably damaging 0.97
R4285:Dlc1 UTSW 8 36574128 missense possibly damaging 0.49
R4294:Dlc1 UTSW 8 36584753 missense possibly damaging 0.47
R4631:Dlc1 UTSW 8 36937558 critical splice donor site probably null
R4828:Dlc1 UTSW 8 36850246 missense possibly damaging 0.69
R4867:Dlc1 UTSW 8 36584645 missense probably benign 0.01
R4902:Dlc1 UTSW 8 36577131 missense probably damaging 1.00
R5067:Dlc1 UTSW 8 36584493 missense probably benign 0.04
R5068:Dlc1 UTSW 8 36938030 missense probably benign
R5198:Dlc1 UTSW 8 36938398 missense probably damaging 1.00
R5471:Dlc1 UTSW 8 36584725 missense probably benign 0.26
R5668:Dlc1 UTSW 8 36937501 unclassified probably benign
R5915:Dlc1 UTSW 8 36938675 utr 5 prime probably benign
R6323:Dlc1 UTSW 8 36938383 missense possibly damaging 0.62
R6655:Dlc1 UTSW 8 36572716 missense probably damaging 1.00
R6908:Dlc1 UTSW 8 36937687 missense probably benign 0.02
R6914:Dlc1 UTSW 8 36938210 missense probably benign
R6942:Dlc1 UTSW 8 36938210 missense probably benign
R7269:Dlc1 UTSW 8 36579253 missense probably damaging 1.00
R7271:Dlc1 UTSW 8 36582800 missense probably damaging 0.99
R7462:Dlc1 UTSW 8 36937964 missense unknown
R7548:Dlc1 UTSW 8 36584655 missense not run
Posted On2013-04-17