Incidental Mutation 'IGL01419:Dlc1'
ID80323
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 #IGL01419
Quality Score
Status
Chromosome8
Chromosomal Location36567751-36953143 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36850217 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 435 (T435A)
Ref Sequence ENSEMBL: ENSMUSP00000132812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163663]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000036104
Predicted Effect probably benign
Transcript: ENSMUST00000163663
AA Change: T435A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: T435A

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
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,048,121 S1323P probably damaging Het
Abca2 A T 2: 25,437,514 T672S probably damaging Het
Adamts14 A T 10: 61,205,542 probably benign Het
Adgrv1 T C 13: 81,557,158 E791G probably damaging Het
Alkbh8 A G 9: 3,385,354 R584G probably damaging Het
Apob A T 12: 8,002,251 I1218F probably damaging Het
Atp5a1 T C 18: 77,777,533 S52P probably damaging Het
B4galnt3 A G 6: 120,215,390 S462P possibly damaging Het
Bdkrb1 A G 12: 105,604,781 H202R possibly damaging Het
Cd300lf T C 11: 115,126,354 K48E probably benign Het
Chuk A T 19: 44,096,981 I242K probably damaging Het
Csde1 A G 3: 103,038,770 T27A probably damaging Het
D930048N14Rik C T 11: 51,654,776 probably benign Het
Depdc7 A T 2: 104,722,110 Y451N possibly damaging Het
Diaph3 C A 14: 86,965,553 G623* probably null Het
Dock8 A G 19: 25,119,452 S575G probably benign Het
Fbxw22 T A 9: 109,381,722 Y407F probably benign Het
Fzd4 C A 7: 89,407,735 A330E probably damaging Het
Gm17415 A G 1: 93,421,950 probably benign Het
Gm4788 T C 1: 139,739,644 probably null Het
Gnat1 C T 9: 107,679,434 probably null Het
Gtf3c4 T C 2: 28,835,069 Y76C probably damaging Het
Heatr5b G A 17: 78,796,510 H1079Y probably benign Het
Helz T G 11: 107,686,514 I1897S unknown Het
Hspa12a T C 19: 58,828,249 probably null Het
Kcne1 G T 16: 92,348,646 F103L probably benign Het
Lrrc20 A T 10: 61,548,095 S94C probably damaging Het
Lrrc8a A G 2: 30,257,099 T642A probably benign Het
Ly6g5b A G 17: 35,114,518 L106P probably benign Het
Lyst A G 13: 13,635,838 S698G probably benign Het
Ndrg1 A G 15: 66,931,051 V334A probably benign Het
Neb A T 2: 52,226,533 Y964* probably null Het
Olfr1047 A T 2: 86,228,629 I114N possibly damaging Het
Olfr1230 T C 2: 89,296,345 probably benign Het
Parp10 A G 15: 76,241,388 F497L probably damaging Het
Pdss1 A G 2: 22,935,577 M343V possibly damaging Het
Phactr3 C T 2: 178,279,062 T231I probably benign Het
Plekhh2 A T 17: 84,583,552 probably benign Het
Ppp1r12c A C 7: 4,486,352 probably null Het
Prdm2 G T 4: 143,133,648 P1024H probably damaging Het
Prkacb A T 3: 146,755,693 M1K probably null Het
Prkdc C A 16: 15,835,166 P3835Q probably damaging Het
Rps27a T C 11: 29,546,353 T87A probably benign Het
Ryr2 T A 13: 11,799,837 E683V possibly damaging Het
Sbk2 A G 7: 4,957,529 L214P probably damaging Het
Sema4g A G 19: 44,997,396 S250G probably benign Het
Slc27a6 T A 18: 58,609,209 D498E probably benign Het
Tarbp1 T C 8: 126,428,155 D1410G probably benign Het
Tas2r134 T A 2: 51,627,747 Y79* probably null Het
Tie1 T C 4: 118,476,098 D857G probably damaging Het
Tnk2 A G 16: 32,680,680 N432S probably damaging Het
Tubg2 C A 11: 101,159,057 D176E probably benign Het
Ugt2b34 A T 5: 86,891,405 W466R probably damaging Het
Usp47 T A 7: 112,087,911 M692K possibly damaging Het
Vmn2r106 T C 17: 20,279,545 K143E probably benign Het
Vmn2r118 G A 17: 55,593,000 L635F probably benign Het
Vmn2r16 C T 5: 109,362,401 probably benign Het
Vmn2r76 A T 7: 86,225,702 M689K probably benign Het
Xkr6 T C 14: 63,818,876 Y79H probably benign Het
Zdhhc6 A G 19: 55,309,754 F224L probably benign Het
Zfp493 T G 13: 67,786,802 I291M probably benign 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
IGL00924:Dlc1 APN 8 36938214 missense probably benign
IGL01349:Dlc1 APN 8 36583824 missense probably damaging 0.96
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
Posted On2013-11-05