Incidental Mutation 'R9187:Dlc1'
ID 697447
Institutional Source Beutler Lab
Gene Symbol Dlc1
Ensembl Gene ENSMUSG00000031523
Gene Name deleted in liver cancer 1
Synonyms p122-RhoGAP, Arhgap7, A730069N07Rik, STARD12
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9187 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 37034905-37420297 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 37405786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000137498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163663] [ENSMUST00000179501]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000163663
AA Change: M1K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: M1K

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 probably null
Transcript: ENSMUST00000179501
AA Change: M1K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 97% (70/72)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,200,961 (GRCm39) probably null Het
Abcb1a T A 5: 8,765,016 (GRCm39) C669S probably benign Het
Abcc3 A G 11: 94,255,913 (GRCm39) L524P probably damaging Het
Akap5 A T 12: 76,376,745 (GRCm39) K726* probably null Het
Aldh16a1 T C 7: 44,791,441 (GRCm39) E778G probably damaging Het
Ankle2 G A 5: 110,400,610 (GRCm39) V649M possibly damaging Het
Apon A G 10: 128,090,832 (GRCm39) N170S probably benign Het
Baiap2l1 T C 5: 144,217,764 (GRCm39) Y274C probably benign Het
Bub1 A T 2: 127,656,856 (GRCm39) N425K possibly damaging Het
Camsap1 A G 2: 25,820,028 (GRCm39) C1487R probably damaging Het
Cd4 A C 6: 124,844,651 (GRCm39) V378G probably damaging Het
Cenpa C A 5: 30,824,380 (GRCm39) P3Q unknown Het
Cfap44 T C 16: 44,225,144 (GRCm39) probably benign Het
Cfap65 T A 1: 74,956,517 (GRCm39) M1021L probably benign Het
Ddx39a G T 8: 84,449,113 (GRCm39) M300I probably benign Het
Dgkh T C 14: 78,832,601 (GRCm39) R819G probably damaging Het
Dnah9 A G 11: 65,895,972 (GRCm39) W2468R probably benign Het
Ebag9 A T 15: 44,503,706 (GRCm39) K177I probably damaging Het
Ehbp1 T C 11: 22,101,184 (GRCm39) I249V probably damaging Het
Fam171b T C 2: 83,710,365 (GRCm39) V679A probably damaging Het
Gabbr2 G A 4: 46,674,533 (GRCm39) T818I probably damaging Het
Gcn1 T C 5: 115,752,177 (GRCm39) S2098P probably damaging Het
Glb1 T C 9: 114,302,991 (GRCm39) I609T probably damaging Het
Gm5916 T G 9: 36,032,020 (GRCm39) H88P probably benign Het
Gon4l T C 3: 88,786,618 (GRCm39) S586P probably benign Het
Gzmg T A 14: 56,394,714 (GRCm39) T185S probably benign Het
Hipk3 T A 2: 104,276,936 (GRCm39) D381V probably damaging Het
Hnrnpul2 C A 19: 8,808,319 (GRCm39) N681K probably benign Het
Hpdl C A 4: 116,678,372 (GRCm39) G30C probably damaging Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Krt82 C A 15: 101,450,260 (GRCm39) V479L probably benign Het
Lama4 G A 10: 38,924,124 (GRCm39) probably null Het
Lamc1 C A 1: 153,097,434 (GRCm39) E1537* probably null Het
Mab21l3 G A 3: 101,730,594 (GRCm39) T215M probably benign Het
Magi3 C A 3: 103,923,073 (GRCm39) V1215F possibly damaging Het
Mical2 T A 7: 111,902,797 (GRCm39) C89* probably null Het
Mitf T A 6: 97,994,835 (GRCm39) V427D probably benign Het
Muc4 T C 16: 32,589,102 (GRCm39) V753A Het
Myo16 G A 8: 10,492,233 (GRCm39) R725H unknown Het
Ncapg2 T A 12: 116,402,287 (GRCm39) D706E probably damaging Het
Ndst1 T C 18: 60,824,268 (GRCm39) D803G probably benign Het
Neb A T 2: 52,096,115 (GRCm39) V5065D probably damaging Het
Npm3 G A 19: 45,737,941 (GRCm39) R19* probably null Het
Ntrk3 A C 7: 77,896,966 (GRCm39) N690K possibly damaging Het
Or7g32 T C 9: 19,389,166 (GRCm39) I127V probably benign Het
Or7g35 T C 9: 19,495,950 (GRCm39) I39T probably benign Het
Or8d4 C A 9: 40,038,886 (GRCm39) V124L possibly damaging Het
P3h2 G A 16: 25,924,186 (GRCm39) A83V probably benign Het
Pdia2 A G 17: 26,415,910 (GRCm39) S362P probably damaging Het
Pmp22 C T 11: 63,025,268 (GRCm39) H34Y probably benign Het
Pmp22 T C 11: 63,025,317 (GRCm39) V50A probably benign Het
Ppfia4 T C 1: 134,255,006 (GRCm39) D283G probably damaging Het
Pramel58 T C 5: 94,831,755 (GRCm39) V254A probably benign Het
Prss55 T A 14: 64,314,531 (GRCm39) Q213L probably null Het
Rgsl1 C T 1: 153,669,613 (GRCm39) E258K possibly damaging Het
Ripor2 T C 13: 24,897,632 (GRCm39) F777L probably benign Het
Rsf1 GGC GGCGGCGGCCGC 7: 97,229,140 (GRCm39) probably benign Het
Sgce G A 6: 4,711,362 (GRCm39) R173C probably benign Het
Sncaip T G 18: 53,040,011 (GRCm39) M735R probably benign Het
Snrpd2 T A 7: 18,886,505 (GRCm39) I96N probably damaging Het
Spryd3 T G 15: 102,039,110 (GRCm39) D121A probably damaging Het
Srsf3-ps A G 11: 98,516,187 (GRCm39) V62A possibly damaging Het
Sspo T C 6: 48,472,223 (GRCm39) C149R probably damaging Het
Tbc1d10b A T 7: 126,807,105 (GRCm39) M144K probably benign Het
Tbc1d31 T A 15: 57,779,485 (GRCm39) I66N probably damaging Het
Tssk1 A G 16: 17,712,457 (GRCm39) T81A possibly damaging Het
Ttc28 A G 5: 111,249,902 (GRCm39) Y284C probably damaging Het
Ttn T C 2: 76,573,755 (GRCm39) T25713A probably benign Het
Vmn2r125 T C 4: 156,703,554 (GRCm39) W311R probably damaging Het
Vmn2r80 A T 10: 79,030,438 (GRCm39) T755S probably benign Het
Vmn2r98 T C 17: 19,301,481 (GRCm39) C828R probably damaging Het
Wwox T C 8: 115,438,978 (GRCm39) F348S probably damaging Het
Zeb2 T A 2: 45,000,040 (GRCm39) R65W possibly damaging Het
Zfp712 T A 13: 67,188,637 (GRCm39) H630L probably damaging Het
Zfp764 G T 7: 127,004,608 (GRCm39) H174Q probably damaging Het
Other mutations in Dlc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Dlc1 APN 8 37,037,436 (GRCm39) utr 3 prime probably benign
IGL00807:Dlc1 APN 8 37,040,002 (GRCm39) missense probably benign 0.01
IGL00924:Dlc1 APN 8 37,405,368 (GRCm39) missense probably benign
IGL01349:Dlc1 APN 8 37,050,978 (GRCm39) missense probably damaging 0.96
IGL01419:Dlc1 APN 8 37,317,371 (GRCm39) missense probably benign 0.02
IGL01871:Dlc1 APN 8 37,317,334 (GRCm39) missense probably damaging 0.99
IGL01937:Dlc1 APN 8 37,317,345 (GRCm39) missense probably benign 0.25
IGL02525:Dlc1 APN 8 37,046,800 (GRCm39) missense probably damaging 1.00
IGL02696:Dlc1 APN 8 37,041,326 (GRCm39) missense possibly damaging 0.65
IGL02826:Dlc1 APN 8 37,037,429 (GRCm39) utr 3 prime probably benign
IGL03029:Dlc1 APN 8 37,038,416 (GRCm39) splice site probably null
BB001:Dlc1 UTSW 8 37,038,570 (GRCm39) missense probably benign 0.03
BB011:Dlc1 UTSW 8 37,038,570 (GRCm39) missense probably benign 0.03
IGL02835:Dlc1 UTSW 8 37,051,055 (GRCm39) missense probably damaging 1.00
R0068:Dlc1 UTSW 8 37,404,875 (GRCm39) missense probably benign
R0068:Dlc1 UTSW 8 37,404,875 (GRCm39) missense probably benign
R0164:Dlc1 UTSW 8 37,066,594 (GRCm39) missense probably damaging 0.96
R0164:Dlc1 UTSW 8 37,066,594 (GRCm39) missense probably damaging 0.96
R0218:Dlc1 UTSW 8 37,317,383 (GRCm39) missense probably benign
R0419:Dlc1 UTSW 8 37,050,740 (GRCm39) missense possibly damaging 0.69
R0513:Dlc1 UTSW 8 37,051,164 (GRCm39) missense probably damaging 1.00
R0645:Dlc1 UTSW 8 37,041,203 (GRCm39) missense possibly damaging 0.60
R0646:Dlc1 UTSW 8 37,325,205 (GRCm39) missense probably benign
R0727:Dlc1 UTSW 8 37,039,828 (GRCm39) missense probably damaging 0.99
R0792:Dlc1 UTSW 8 37,405,702 (GRCm39) missense probably benign 0.00
R1061:Dlc1 UTSW 8 37,325,205 (GRCm39) missense probably benign
R1221:Dlc1 UTSW 8 37,051,985 (GRCm39) missense probably benign
R1440:Dlc1 UTSW 8 37,060,617 (GRCm39) splice site probably benign
R1501:Dlc1 UTSW 8 37,405,302 (GRCm39) missense probably benign 0.06
R1606:Dlc1 UTSW 8 37,317,406 (GRCm39) missense probably benign
R1707:Dlc1 UTSW 8 37,404,763 (GRCm39) missense probably benign 0.03
R1750:Dlc1 UTSW 8 37,325,244 (GRCm39) splice site probably null
R1762:Dlc1 UTSW 8 37,404,739 (GRCm39) missense probably benign 0.25
R2041:Dlc1 UTSW 8 37,049,922 (GRCm39) missense probably damaging 1.00
R2055:Dlc1 UTSW 8 37,060,535 (GRCm39) missense probably damaging 0.98
R2091:Dlc1 UTSW 8 37,404,763 (GRCm39) missense probably benign 0.00
R2987:Dlc1 UTSW 8 37,041,306 (GRCm39) missense probably damaging 0.97
R4285:Dlc1 UTSW 8 37,041,282 (GRCm39) missense possibly damaging 0.49
R4294:Dlc1 UTSW 8 37,051,907 (GRCm39) missense possibly damaging 0.47
R4631:Dlc1 UTSW 8 37,404,712 (GRCm39) critical splice donor site probably null
R4828:Dlc1 UTSW 8 37,317,400 (GRCm39) missense possibly damaging 0.69
R4867:Dlc1 UTSW 8 37,051,799 (GRCm39) missense probably benign 0.01
R4902:Dlc1 UTSW 8 37,044,285 (GRCm39) missense probably damaging 1.00
R5067:Dlc1 UTSW 8 37,051,647 (GRCm39) missense probably benign 0.04
R5068:Dlc1 UTSW 8 37,405,184 (GRCm39) missense probably benign
R5198:Dlc1 UTSW 8 37,405,552 (GRCm39) missense probably damaging 1.00
R5471:Dlc1 UTSW 8 37,051,879 (GRCm39) missense probably benign 0.26
R5668:Dlc1 UTSW 8 37,404,655 (GRCm39) unclassified probably benign
R5915:Dlc1 UTSW 8 37,405,829 (GRCm39) utr 5 prime probably benign
R6323:Dlc1 UTSW 8 37,405,537 (GRCm39) missense possibly damaging 0.62
R6655:Dlc1 UTSW 8 37,039,870 (GRCm39) missense probably damaging 1.00
R6908:Dlc1 UTSW 8 37,404,841 (GRCm39) missense probably benign 0.02
R6914:Dlc1 UTSW 8 37,405,364 (GRCm39) missense probably benign
R6942:Dlc1 UTSW 8 37,405,364 (GRCm39) missense probably benign
R7269:Dlc1 UTSW 8 37,046,407 (GRCm39) missense probably damaging 1.00
R7271:Dlc1 UTSW 8 37,049,954 (GRCm39) missense probably damaging 0.99
R7462:Dlc1 UTSW 8 37,405,118 (GRCm39) missense unknown
R7548:Dlc1 UTSW 8 37,051,809 (GRCm39) missense probably benign 0.00
R7649:Dlc1 UTSW 8 37,049,894 (GRCm39) missense probably damaging 1.00
R7924:Dlc1 UTSW 8 37,038,570 (GRCm39) missense probably benign 0.03
R7960:Dlc1 UTSW 8 37,404,989 (GRCm39) missense probably benign
R7984:Dlc1 UTSW 8 37,405,472 (GRCm39) missense possibly damaging 0.85
R8227:Dlc1 UTSW 8 37,039,825 (GRCm39) missense probably damaging 1.00
R8491:Dlc1 UTSW 8 37,052,000 (GRCm39) missense probably benign
R8526:Dlc1 UTSW 8 37,404,968 (GRCm39) missense probably benign 0.00
R8715:Dlc1 UTSW 8 37,405,795 (GRCm39) start gained probably benign
R8887:Dlc1 UTSW 8 37,051,481 (GRCm39) missense probably benign 0.34
R8972:Dlc1 UTSW 8 37,405,394 (GRCm39) nonsense probably null
R8988:Dlc1 UTSW 8 37,039,997 (GRCm39) missense probably damaging 0.96
R9031:Dlc1 UTSW 8 37,405,055 (GRCm39) missense possibly damaging 0.95
R9080:Dlc1 UTSW 8 37,052,006 (GRCm39) missense probably benign
R9092:Dlc1 UTSW 8 37,199,860 (GRCm39) missense probably benign 0.03
R9096:Dlc1 UTSW 8 37,080,721 (GRCm39) missense probably benign 0.00
R9097:Dlc1 UTSW 8 37,080,721 (GRCm39) missense probably benign 0.00
R9166:Dlc1 UTSW 8 37,066,589 (GRCm39) missense probably damaging 1.00
R9240:Dlc1 UTSW 8 37,052,005 (GRCm39) missense probably benign
R9276:Dlc1 UTSW 8 37,046,558 (GRCm39) missense possibly damaging 0.83
R9325:Dlc1 UTSW 8 37,038,518 (GRCm39) missense possibly damaging 0.83
Z1176:Dlc1 UTSW 8 37,051,365 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGTCTCTGACCCACAACAGC -3'
(R):5'- AGCACAGATTAGATCCTTTGCC -3'

Sequencing Primer
(F):5'- GGTAGAGAGGCACACTTCTC -3'
(R):5'- CATGGCAGATCACACTCT -3'
Posted On 2022-02-07