Incidental Mutation 'R9276:Dlc1'
ID 703301
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 # R9276 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 37034905-37420297 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37046558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 680 (S680P)
Ref Sequence ENSEMBL: ENSMUSP00000033923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033923] [ENSMUST00000098826] [ENSMUST00000163663]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000033923
AA Change: S680P

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: S680P

DomainStartEndE-ValueType
Pfam:SAM_2 15 76 2.2e-7 PFAM
low complexity region 154 174 N/A INTRINSIC
low complexity region 238 250 N/A INTRINSIC
low complexity region 298 325 N/A INTRINSIC
low complexity region 427 441 N/A INTRINSIC
RhoGAP 653 845 8.82e-59 SMART
START 887 1088 3.93e-59 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000098826
AA Change: S714P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: S714P

DomainStartEndE-ValueType
Pfam:SAM_2 49 110 5.9e-8 PFAM
low complexity region 188 208 N/A INTRINSIC
low complexity region 272 284 N/A INTRINSIC
low complexity region 332 359 N/A INTRINSIC
low complexity region 461 475 N/A INTRINSIC
RhoGAP 687 879 8.82e-59 SMART
START 921 1122 3.93e-59 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163663
AA Change: S1131P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: S1131P

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (83/84)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik A T 9: 101,819,887 (GRCm39) R102S probably benign Het
Abitram A T 4: 56,806,141 (GRCm39) K184N probably benign Het
Acvr2b C T 9: 119,231,616 (GRCm39) T2M probably benign Het
Adamtsl3 A G 7: 82,206,710 (GRCm39) probably benign Het
Adcy7 A G 8: 89,052,014 (GRCm39) Y894C probably damaging Het
Afdn T A 17: 14,024,270 (GRCm39) C59S probably damaging Het
Amt C A 9: 108,178,410 (GRCm39) T339K probably benign Het
Ankrd27 G T 7: 35,319,995 (GRCm39) V639L probably benign Het
Anxa10 G T 8: 62,549,753 (GRCm39) Q31K probably damaging Het
Ap1g2 T C 14: 55,339,818 (GRCm39) T454A probably benign Het
Boll A T 1: 55,399,812 (GRCm39) I43N possibly damaging Het
Cacna1c T C 6: 118,601,394 (GRCm39) D1472G Het
Calcrl T C 2: 84,205,643 (GRCm39) N16S probably benign Het
Ccdc191 C T 16: 43,764,041 (GRCm39) Q501* probably null Het
Cchcr1 T C 17: 35,841,105 (GRCm39) L658P probably damaging Het
Cfap46 A T 7: 139,201,207 (GRCm39) C1919S unknown Het
Col6a3 G A 1: 90,735,403 (GRCm39) L1356F possibly damaging Het
Dock4 T G 12: 40,699,404 (GRCm39) M206R possibly damaging Het
Eml5 T C 12: 98,765,060 (GRCm39) K1630E probably damaging Het
Fat1 A G 8: 45,488,514 (GRCm39) T3432A probably damaging Het
Fcrl5 G T 3: 87,343,138 (GRCm39) probably benign Het
Fcrla A G 1: 170,755,135 (GRCm39) probably benign Het
Fut4 C A 9: 14,662,572 (GRCm39) D241Y probably benign Het
Fzd6 A G 15: 38,870,962 (GRCm39) probably benign Het
Gjc2 T C 11: 59,068,453 (GRCm39) T10A probably damaging Het
Gle1 C T 2: 29,829,514 (GRCm39) H203Y possibly damaging Het
Gm5565 A T 5: 146,096,917 (GRCm39) I74N probably damaging Het
Gnl2 T A 4: 124,947,250 (GRCm39) I624K possibly damaging Het
Gnpat C A 8: 125,614,524 (GRCm39) N653K probably benign Het
Gstcd A G 3: 132,777,665 (GRCm39) L382S probably damaging Het
Ipcef1 A G 10: 6,857,936 (GRCm39) probably benign Het
Jmjd7 T C 2: 119,860,895 (GRCm39) V115A possibly damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Ltbp2 T G 12: 84,876,885 (GRCm39) D440A possibly damaging Het
Macf1 T G 4: 123,328,501 (GRCm39) D4744A probably damaging Het
Mapk11 T C 15: 89,029,372 (GRCm39) D230G probably damaging Het
Mfsd6 A C 1: 52,747,514 (GRCm39) Y450* probably null Het
Mtmr9 A G 14: 63,781,001 (GRCm39) C30R probably damaging Het
Ncf1 G A 5: 134,250,693 (GRCm39) Q376* probably null Het
Ncor2 C A 5: 125,113,150 (GRCm39) R296M Het
Or51ah3 A T 7: 103,210,004 (GRCm39) T107S probably damaging Het
Or5d37 A G 2: 87,923,806 (GRCm39) V158A probably benign Het
Or5k8 A G 16: 58,644,734 (GRCm39) F113L probably benign Het
Or8b57 A T 9: 40,003,632 (GRCm39) I210K possibly damaging Het
Or8b8 C A 9: 37,809,415 (GRCm39) S238R probably benign Het
Or8k31-ps1 A T 2: 86,356,392 (GRCm39) L43* probably null Het
Pate9 A T 9: 36,445,727 (GRCm39) C75S probably damaging Het
Pcsk6 A T 7: 65,559,950 (GRCm39) I92F probably damaging Het
Plec A G 15: 76,060,445 (GRCm39) V3164A probably benign Het
Prss16 A G 13: 22,190,175 (GRCm39) probably benign Het
Ptch2 T A 4: 116,967,505 (GRCm39) H724Q probably damaging Het
Pzp A T 6: 128,499,077 (GRCm39) F190Y probably damaging Het
Rab6a A G 7: 100,275,809 (GRCm39) T41A probably benign Het
Rbm6 A G 9: 107,660,926 (GRCm39) L879P probably damaging Het
Rem1 T A 2: 152,469,969 (GRCm39) probably benign Het
Rnf17 T C 14: 56,719,554 (GRCm39) S935P probably damaging Het
Ryr1 C A 7: 28,802,254 (GRCm39) V789L probably damaging Het
Scgb2b3 A T 7: 31,059,528 (GRCm39) M82K possibly damaging Het
Sgce T A 6: 4,674,585 (GRCm39) L451F probably damaging Het
Slc25a17 A C 15: 81,207,814 (GRCm39) V258G probably benign Het
Spidr G A 16: 15,784,712 (GRCm39) T452I probably benign Het
Tas2r129 A G 6: 132,928,576 (GRCm39) N171S probably benign Het
Tbc1d24 A T 17: 24,405,114 (GRCm39) V10E probably damaging Het
Tdo2 T G 3: 81,876,885 (GRCm39) M115L probably benign Het
Tdrd9 T C 12: 111,980,935 (GRCm39) probably null Het
Tead1 T A 7: 112,493,601 (GRCm39) I376N probably damaging Het
Tmem26 A G 10: 68,614,488 (GRCm39) H301R possibly damaging Het
Tnxb A G 17: 34,929,134 (GRCm39) T2726A possibly damaging Het
Trim43c T C 9: 88,723,966 (GRCm39) M164T probably benign Het
Trpc1 G A 9: 95,590,288 (GRCm39) S723L probably benign Het
Txndc15 A G 13: 55,865,914 (GRCm39) D126G probably benign Het
Urb1 C T 16: 90,569,463 (GRCm39) probably benign Het
Usp25 C T 16: 76,910,721 (GRCm39) H926Y probably benign Het
Uvssa T A 5: 33,572,180 (GRCm39) M700K possibly damaging Het
Vdac1 T A 11: 52,274,789 (GRCm39) Y146N probably damaging Het
Vmn1r231 A T 17: 21,110,560 (GRCm39) S118R probably benign Het
Vmn1r41 A G 6: 89,724,080 (GRCm39) Y207C probably damaging Het
Vmn2r79 A G 7: 86,687,045 (GRCm39) I809V probably damaging Het
Vnn1 G A 10: 23,776,794 (GRCm39) G382R probably damaging Het
Xcr1 A T 9: 123,685,680 (GRCm39) H27Q probably benign Het
Yeats2 T A 16: 19,975,786 (GRCm39) N94K probably benign Het
Zfp28 C T 7: 6,397,440 (GRCm39) T625M probably damaging Het
Zfp521 T C 18: 13,977,698 (GRCm39) Q905R probably benign Het
Zfp804b T C 5: 6,821,398 (GRCm39) D555G 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
R9187:Dlc1 UTSW 8 37,405,786 (GRCm39) start codon destroyed probably null 1.00
R9240:Dlc1 UTSW 8 37,052,005 (GRCm39) missense probably benign
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'- GATCTGCAGGAAGGTTTCGG -3'
(R):5'- ACTGACTGTGAACGTGCAGC -3'

Sequencing Primer
(F):5'- CAGGAAGGTTTCGGAGAGTTTGTTC -3'
(R):5'- TGAACGTGCAGCGCTCAG -3'
Posted On 2022-03-25