Incidental Mutation 'R8887:Dlc1'
ID 677407
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 068752-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8887 (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 T at 37051481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 299 (V299E)
Ref Sequence ENSEMBL: ENSMUSP00000033923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033923] [ENSMUST00000098826] [ENSMUST00000163663]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033923
AA Change: V299E

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: V299E

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 possibly damaging
Transcript: ENSMUST00000098826
AA Change: V333E

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: V333E

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 possibly damaging
Transcript: ENSMUST00000163663
AA Change: V750E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: V750E

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: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (93/95)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 T C 17: 57,175,285 (GRCm39) T76A probably benign Het
Actn1 A G 12: 80,215,197 (GRCm39) C860R probably damaging Het
Adam23 T A 1: 63,554,744 (GRCm39) L170Q probably damaging Het
Afdn C T 17: 14,116,401 (GRCm39) R1620* probably null Het
Agfg1 A G 1: 82,848,525 (GRCm39) probably benign Het
Aire A G 10: 77,870,298 (GRCm39) S476P probably damaging Het
Arhgef26 A G 3: 62,247,401 (GRCm39) T162A probably benign Het
Atp1a2 T C 1: 172,113,222 (GRCm39) Q487R probably null Het
BC048507 T A 13: 68,011,628 (GRCm39) C2S probably benign Het
Bltp1 G T 3: 37,087,503 (GRCm39) A615S possibly damaging Het
Bnc2 A C 4: 84,209,707 (GRCm39) probably benign Het
Bop1 C T 15: 76,338,524 (GRCm39) G473R probably damaging Het
C1galt1 A G 6: 7,866,379 (GRCm39) E75G probably benign Het
Cacna1i T C 15: 80,258,894 (GRCm39) V1201A possibly damaging Het
Cecr2 C A 6: 120,715,162 (GRCm39) T249K probably damaging Het
Clca3a2 C A 3: 144,790,810 (GRCm39) G421* probably null Het
Clec1b A T 6: 129,378,703 (GRCm39) probably null Het
Cnksr3 C T 10: 7,104,467 (GRCm39) D79N probably damaging Het
Col15a1 A G 4: 47,287,091 (GRCm39) Q843R probably damaging Het
Col6a3 T C 1: 90,755,948 (GRCm39) S114G probably benign Het
Corin A T 5: 72,486,953 (GRCm39) probably null Het
Cyp2u1 A G 3: 131,096,503 (GRCm39) Y92H probably damaging Het
Dcbld2 T C 16: 58,229,270 (GRCm39) L51P probably damaging Het
Dip2c T A 13: 9,673,989 (GRCm39) probably benign Het
Dlgap2 G A 8: 14,229,682 (GRCm39) probably null Het
Dnah1 A G 14: 31,032,997 (GRCm39) L346P probably damaging Het
Dnah9 T C 11: 65,746,210 (GRCm39) T3968A probably benign Het
Duox2 A C 2: 122,120,044 (GRCm39) M822R probably null Het
E2f7 A T 10: 110,610,674 (GRCm39) Q433L probably benign Het
Eif3k A C 7: 28,679,901 (GRCm39) Y42* probably null Het
Elmod3 A G 6: 72,563,494 (GRCm39) S45P probably damaging Het
Emilin3 C A 2: 160,751,108 (GRCm39) V214F possibly damaging Het
Fbxo10 A T 4: 45,058,887 (GRCm39) F283L probably benign Het
Fbxw7 T C 3: 84,876,549 (GRCm39) Y358H Het
G430095P16Rik A G 8: 85,453,043 (GRCm39) N10S unknown Het
Gldc A G 19: 30,111,156 (GRCm39) V540A possibly damaging Het
Gm3667 T A 14: 18,271,553 (GRCm39) E67D probably benign Het
Golga3 T A 5: 110,353,626 (GRCm39) probably benign Het
H60c T C 10: 3,217,255 (GRCm39) E38G probably benign Het
Hectd4 A G 5: 121,433,541 (GRCm39) D952G probably benign Het
Hoxb8 T A 11: 96,175,223 (GRCm39) L220Q probably damaging Het
Ice1 A T 13: 70,751,050 (GRCm39) L1679M probably damaging Het
Ifi202b T A 1: 173,802,480 (GRCm39) Y118F probably damaging Het
Ift122 A T 6: 115,868,880 (GRCm39) T456S probably benign Het
Ighg3 G A 12: 113,323,845 (GRCm39) T181I Het
Ighv1-66 C A 12: 115,557,032 (GRCm39) V17F probably damaging Het
Ighv5-12-4 A G 12: 113,726,130 (GRCm39) V31A possibly damaging Het
Ints12 T A 3: 132,815,003 (GRCm39) N403K probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kalrn A C 16: 34,047,496 (GRCm39) N908K probably benign Het
Kctd9 G A 14: 67,962,016 (GRCm39) V20I unknown Het
Krt78 G T 15: 101,861,746 (GRCm39) L167M probably damaging Het
Ldb1 T C 19: 46,023,294 (GRCm39) E206G probably damaging Het
Lig1 A G 7: 13,030,713 (GRCm39) Y455C probably damaging Het
Ltbp1 T G 17: 75,486,077 (GRCm39) I34S probably damaging Het
Map2 T C 1: 66,454,758 (GRCm39) I1216T possibly damaging Het
Mex3c T C 18: 73,706,800 (GRCm39) V229A probably damaging Het
Mfsd11 T C 11: 116,745,526 (GRCm39) probably null Het
Mroh1 A G 15: 76,331,474 (GRCm39) T1233A probably benign Het
Myct1 C T 10: 5,554,208 (GRCm39) T25I probably damaging Het
Nipbl A T 15: 8,391,271 (GRCm39) H234Q probably damaging Het
Npc1l1 G A 11: 6,175,665 (GRCm39) P549S probably damaging Het
Or12d2 A T 17: 37,624,642 (GRCm39) L211Q probably damaging Het
Or4c3 A G 2: 89,852,269 (GRCm39) V47A probably benign Het
Or5h22 A T 16: 58,894,846 (GRCm39) V199D possibly damaging Het
Or5w22 A G 2: 87,363,187 (GRCm39) D270G possibly damaging Het
Or6c3b A T 10: 129,527,372 (GRCm39) Y179* probably null Het
Padi3 A T 4: 140,523,795 (GRCm39) C228* probably null Het
Palld T A 8: 61,986,512 (GRCm39) D1015V unknown Het
Pcna-ps2 A T 19: 9,261,488 (GRCm39) Y249F probably benign Het
Pelo C T 13: 115,225,451 (GRCm39) C258Y probably benign Het
Ppp1r13b A T 12: 111,803,430 (GRCm39) probably benign Het
Pramel26 A G 4: 143,539,257 (GRCm39) F79L probably damaging Het
Prdm2 A G 4: 142,860,771 (GRCm39) W840R probably damaging Het
Prkcg A G 7: 3,370,857 (GRCm39) D428G possibly damaging Het
Pus7 G A 5: 23,948,476 (GRCm39) R571* probably null Het
Rab11fip3 A G 17: 26,286,927 (GRCm39) C409R possibly damaging Het
Rdh13 T C 7: 4,434,522 (GRCm39) D186G probably damaging Het
Rslcan18 T A 13: 67,246,793 (GRCm39) H273L probably damaging Het
Rxfp1 T A 3: 79,559,289 (GRCm39) probably benign Het
Sh3bp1 T A 15: 78,788,540 (GRCm39) probably null Het
Siglecg T A 7: 43,058,008 (GRCm39) S9T probably benign Het
Slc9a1 T C 4: 133,139,258 (GRCm39) F159L probably benign Het
Slc9a2 A G 1: 40,758,009 (GRCm39) I183V probably benign Het
St6galnac4 A G 2: 32,484,110 (GRCm39) M103V probably damaging Het
Tbc1d30 T C 10: 121,187,059 (GRCm39) D42G possibly damaging Het
Tlr5 C A 1: 182,801,332 (GRCm39) T212K probably benign Het
Trim43b T G 9: 88,969,642 (GRCm39) I269L probably benign Het
Ttll6 T C 11: 96,047,492 (GRCm39) L697P possibly damaging Het
Ttn T G 2: 76,549,239 (GRCm39) T31813P probably damaging Het
Ttn A T 2: 76,571,932 (GRCm39) D26320E probably damaging Het
Uba6 A G 5: 86,307,061 (GRCm39) probably null Het
Usp1 C G 4: 98,819,185 (GRCm39) Q216E probably benign Het
Vcan T C 13: 89,853,026 (GRCm39) T645A probably benign Het
Wdr64 C A 1: 175,599,850 (GRCm39) P559H probably benign Het
Zfat T C 15: 68,056,315 (GRCm39) Y247C probably damaging Het
Zfp979 A T 4: 147,698,219 (GRCm39) N163K 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
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
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'- GTAGAACACCGTGTCCTCTG -3'
(R):5'- TCAAACGCATGGAGAGCCTG -3'

Sequencing Primer
(F):5'- AACACCGTGTCCTCTGGGTAG -3'
(R):5'- TGAAGCTCAAGGGCTCCCAC -3'
Posted On 2021-08-02