Incidental Mutation 'R7548:Dlc1'
ID 584316
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 045619-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7548 (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 37051809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 190 (S190P)
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: S190P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000033923
Gene: ENSMUSG00000031523
AA Change: S190P

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 benign
Transcript: ENSMUST00000098826
AA Change: S224P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000096425
Gene: ENSMUSG00000031523
AA Change: S224P

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 benign
Transcript: ENSMUST00000163663
AA Change: S641P

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000132812
Gene: ENSMUSG00000031523
AA Change: S641P

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik G A 5: 115,016,059 (GRCm39) S146N possibly damaging Het
Acr T C 15: 89,458,596 (GRCm39) S426P possibly damaging Het
Arl6ip1 A T 7: 117,725,733 (GRCm39) I59N probably damaging Het
Atp2b4 A T 1: 133,629,379 (GRCm39) *81K probably null Het
Atp8a1 T A 5: 67,973,071 (GRCm39) R26* probably null Het
Atp8b4 T A 2: 126,231,262 (GRCm39) Q453L probably benign Het
B4galt4 A G 16: 38,574,428 (GRCm39) E134G probably damaging Het
Bcl9 G A 3: 97,113,209 (GRCm39) T1082I probably damaging Het
Catsperg2 A G 7: 29,409,251 (GRCm39) F617L probably benign Het
Ccdc15 T C 9: 37,188,723 (GRCm39) N800S probably benign Het
Cd300ld T C 11: 114,878,248 (GRCm39) D88G probably benign Het
Ceacam2 A T 7: 25,229,958 (GRCm39) V216E probably benign Het
Cecr2 T A 6: 120,738,675 (GRCm39) M356K Het
Cenpm T C 15: 82,128,880 (GRCm39) M1V probably null Het
Ces2e A G 8: 105,658,538 (GRCm39) E401G probably benign Het
Cib3 C A 8: 72,961,041 (GRCm39) L65F probably damaging Het
Clip4 C G 17: 72,096,963 (GRCm39) T29R probably benign Het
Cnot7 A G 8: 40,953,874 (GRCm39) I131T probably damaging Het
Cntn5 A T 9: 9,673,415 (GRCm39) probably null Het
Col11a1 A C 3: 113,917,409 (GRCm39) H732P unknown Het
Coq4 A T 2: 29,685,420 (GRCm39) T145S possibly damaging Het
Cwf19l1 T C 19: 44,098,989 (GRCm39) D527G probably benign Het
Cyp3a25 T C 5: 145,923,735 (GRCm39) I303V probably damaging Het
Dab2 C T 15: 6,459,399 (GRCm39) T437I possibly damaging Het
Dnah6 G A 6: 73,004,423 (GRCm39) L3847F probably damaging Het
Dnmbp T C 19: 43,877,838 (GRCm39) E411G probably benign Het
Dpp8 T C 9: 64,944,517 (GRCm39) Y95H probably damaging Het
Emb T A 13: 117,408,590 (GRCm39) D310E possibly damaging Het
Eml4 C A 17: 83,732,766 (GRCm39) Q140K probably benign Het
Epb41l3 T C 17: 69,517,271 (GRCm39) S100P probably damaging Het
Fat4 A T 3: 39,035,263 (GRCm39) T2972S probably benign Het
Fignl2 T C 15: 100,951,079 (GRCm39) E401G unknown Het
Fryl T A 5: 73,349,105 (GRCm39) D19V unknown Het
Gck C T 11: 5,852,040 (GRCm39) G16R Het
Gm3371 T C 14: 44,648,145 (GRCm39) M1V probably null Het
Hlcs T A 16: 93,933,876 (GRCm39) K661* probably null Het
Il17re C G 6: 113,443,348 (GRCm39) P363A probably damaging Het
Kif24 C T 4: 41,423,601 (GRCm39) E217K possibly damaging Het
Klhdc7b T C 15: 89,272,907 (GRCm39) I605T probably damaging Het
Krt31 T C 11: 99,940,346 (GRCm39) T170A probably damaging Het
Lgals3bp T C 11: 118,287,669 (GRCm39) D126G probably benign Het
Lig1 T A 7: 13,035,344 (GRCm39) F601Y possibly damaging Het
Lrp6 A G 6: 134,484,471 (GRCm39) I384T probably damaging Het
Mfap5 A T 6: 122,502,993 (GRCm39) T102S probably benign Het
Mfsd6 A G 1: 52,702,446 (GRCm39) F600S possibly damaging Het
Nlrp4a G A 7: 26,149,604 (GRCm39) E404K probably damaging Het
Nme3 T C 17: 25,115,522 (GRCm39) L12P probably damaging Het
Nxpe5 A T 5: 138,249,493 (GRCm39) T428S probably benign Het
Or1e26 G A 11: 73,479,802 (GRCm39) T254I possibly damaging Het
Or4c122 T C 2: 89,079,430 (GRCm39) T191A probably benign Het
Prr5 C A 15: 84,641,259 (GRCm39) P175Q possibly damaging Het
Psmc6 T C 14: 45,572,375 (GRCm39) Y110H probably benign Het
Pthlh T A 6: 147,158,653 (GRCm39) R102S possibly damaging Het
Ric8b G T 10: 84,783,736 (GRCm39) S198I probably damaging Het
Rrp7a C A 15: 83,001,871 (GRCm39) R212S possibly damaging Het
Rubcnl T C 14: 75,279,792 (GRCm39) Y392H probably benign Het
Sag G A 1: 87,772,638 (GRCm39) V369I probably benign Het
Sar1b A G 11: 51,680,094 (GRCm39) E140G probably benign Het
Sema3d T A 5: 12,627,783 (GRCm39) M658K unknown Het
Skor2 C T 18: 76,948,600 (GRCm39) S774F possibly damaging Het
Slc1a6 G T 10: 78,650,265 (GRCm39) R501L probably damaging Het
Spata31d1b A G 13: 59,864,468 (GRCm39) M539V probably benign Het
Spocd1 T C 4: 129,823,602 (GRCm39) L133P Het
Sptlc1 A T 13: 53,521,968 (GRCm39) N96K possibly damaging Het
Stox1 A T 10: 62,501,946 (GRCm39) S205T probably damaging Het
Tec T C 5: 72,917,693 (GRCm39) M509V probably damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Ttc34 T A 4: 154,940,816 (GRCm39) L499Q probably damaging Het
Uqcc1 A G 2: 155,751,309 (GRCm39) C120R probably damaging Het
Usp39 C T 6: 72,321,996 (GRCm39) S46N possibly damaging Het
Zbtb5 T C 4: 44,994,724 (GRCm39) E220G probably benign Het
Zfp287 A T 11: 62,604,701 (GRCm39) C735* probably null 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
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
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'- GGAGCACTGATGATCAACCC -3'
(R):5'- CCCCAGACAACTCTCGTTTG -3'

Sequencing Primer
(F):5'- TGATGATCAACCCCAGCTTGG -3'
(R):5'- AACTCTCGTTTGCAAAGCG -3'
Posted On 2019-10-17