Incidental Mutation 'IGL02498:Cdc42bpg'
ID295887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdc42bpg
Ensembl Gene ENSMUSG00000024769
Gene NameCDC42 binding protein kinase gamma (DMPK-like)
SynonymsMRCKgamma
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.356) question?
Stock #IGL02498
Quality Score
Status
Chromosome19
Chromosomal Location6306456-6325652 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 6322793 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 1504 (L1504S)
Ref Sequence ENSEMBL: ENSMUSP00000025681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025681]
Predicted Effect probably benign
Transcript: ENSMUST00000025681
AA Change: L1504S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025681
Gene: ENSMUSG00000024769
AA Change: L1504S

DomainStartEndE-ValueType
low complexity region 21 31 N/A INTRINSIC
S_TKc 71 337 1.63e-87 SMART
S_TK_X 338 400 7.85e-12 SMART
coiled coil region 444 551 N/A INTRINSIC
coiled coil region 630 675 N/A INTRINSIC
Pfam:DMPK_coil 743 801 4.6e-21 PFAM
low complexity region 861 873 N/A INTRINSIC
C1 878 926 1.78e-7 SMART
PH 947 1067 3.57e-10 SMART
Pfam:CNH 1096 1362 7.5e-56 PFAM
low complexity region 1401 1412 N/A INTRINSIC
low complexity region 1535 1551 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141854
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T C 1: 37,623,845 T991A probably benign Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abcc9 A T 6: 142,671,539 probably null Het
Abcg8 T C 17: 84,683,265 W12R probably benign Het
Ablim1 A T 19: 57,152,319 C155* probably null Het
Adam33 A G 2: 131,053,237 C658R probably damaging Het
Adamts2 A G 11: 50,773,308 H357R possibly damaging Het
Adamts2 G T 11: 50,777,196 K528N probably damaging Het
Arhgef12 G A 9: 42,982,043 P955S probably benign Het
Atp2b2 T A 6: 113,793,854 I365F probably damaging Het
AW112010 T C 19: 11,048,337 noncoding transcript Het
AY358078 T C 14: 51,803,487 S88P probably benign Het
Dgkg T A 16: 22,548,691 H593L probably damaging Het
Gm10463 T C 5: 32,131,398 probably benign Het
Grm1 A T 10: 10,719,979 L635Q probably damaging Het
Herc4 T C 10: 63,273,465 C160R probably benign Het
Hs6st1 G A 1: 36,103,740 R252H probably damaging Het
Litaf A G 16: 10,966,559 V29A possibly damaging Het
Lmo7 G A 14: 101,807,482 V57I probably benign Het
Loxl4 A T 19: 42,604,973 L253Q probably benign Het
Mon2 C T 10: 123,034,330 V458I probably benign Het
Ncstn G T 1: 172,068,592 F506L probably benign Het
Nedd8 T A 14: 55,663,816 D21V probably damaging Het
Oas1c T C 5: 120,805,526 T183A possibly damaging Het
Pcsk5 A T 19: 17,511,556 Y967N probably damaging Het
Phf2 A G 13: 48,805,239 S936P unknown Het
Pkd1 T C 17: 24,585,779 I3159T possibly damaging Het
Prrt3 C A 6: 113,497,827 V145F possibly damaging Het
Prx T A 7: 27,518,072 V666E probably damaging Het
Rapgef2 C T 3: 79,066,753 V1577M probably damaging Het
Sesn3 T C 9: 14,306,268 probably benign Het
Shoc2 T A 19: 54,027,776 L407* probably null Het
Slc6a12 A G 6: 121,361,070 M435V probably benign Het
Smarcc1 C T 9: 110,190,934 T623I probably damaging Het
Snx14 A G 9: 88,407,464 L245S probably damaging Het
Son T A 16: 91,656,825 M820K probably damaging Het
Sorcs1 T C 19: 50,678,168 T101A probably benign Het
Stoml2 C A 4: 43,031,045 V37L probably benign Het
Syde2 T A 3: 145,998,689 H465Q probably benign Het
Tmem164 T A X: 142,806,048 V40D possibly damaging Het
Trim37 A G 11: 87,185,050 E494G probably benign Het
Triobp A G 15: 78,961,043 D195G probably benign Het
Unc79 G A 12: 103,171,578 V2427M probably damaging Het
Usp27x T C X: 7,373,541 probably benign Het
Vmn2r113 T A 17: 22,958,375 V711D probably damaging Het
Zfp940 T C 7: 29,846,951 T7A probably damaging Het
Other mutations in Cdc42bpg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01149:Cdc42bpg APN 19 6312205 splice site probably benign
IGL01415:Cdc42bpg APN 19 6310851 missense probably damaging 1.00
IGL01517:Cdc42bpg APN 19 6318437 missense probably damaging 1.00
IGL01585:Cdc42bpg APN 19 6320432 missense possibly damaging 0.93
IGL01743:Cdc42bpg APN 19 6309823 critical splice donor site probably null
IGL01930:Cdc42bpg APN 19 6311368 missense probably damaging 1.00
IGL02092:Cdc42bpg APN 19 6316826 splice site probably benign
IGL02355:Cdc42bpg APN 19 6310809 missense possibly damaging 0.93
IGL02362:Cdc42bpg APN 19 6310809 missense possibly damaging 0.93
IGL03004:Cdc42bpg APN 19 6311383 missense probably benign 0.38
IGL03037:Cdc42bpg APN 19 6311200 missense probably damaging 1.00
PIT1430001:Cdc42bpg UTSW 19 6322552 splice site probably null
R0304:Cdc42bpg UTSW 19 6317248 missense probably damaging 0.99
R0367:Cdc42bpg UTSW 19 6311395 missense probably damaging 1.00
R0412:Cdc42bpg UTSW 19 6313457 missense probably damaging 1.00
R0742:Cdc42bpg UTSW 19 6318575 critical splice donor site probably null
R1026:Cdc42bpg UTSW 19 6317187 missense probably damaging 1.00
R1056:Cdc42bpg UTSW 19 6314021 missense probably benign 0.10
R1065:Cdc42bpg UTSW 19 6322826 missense probably damaging 1.00
R1476:Cdc42bpg UTSW 19 6313782 missense probably damaging 0.99
R1854:Cdc42bpg UTSW 19 6320807 missense possibly damaging 0.67
R1936:Cdc42bpg UTSW 19 6310309 missense probably damaging 1.00
R1962:Cdc42bpg UTSW 19 6306855 missense probably damaging 1.00
R2070:Cdc42bpg UTSW 19 6320488 missense probably damaging 1.00
R2167:Cdc42bpg UTSW 19 6317677 missense probably damaging 1.00
R3826:Cdc42bpg UTSW 19 6317645 missense probably damaging 0.99
R3829:Cdc42bpg UTSW 19 6317645 missense probably damaging 0.99
R4190:Cdc42bpg UTSW 19 6321681 missense probably damaging 1.00
R4249:Cdc42bpg UTSW 19 6315266 missense possibly damaging 0.65
R4499:Cdc42bpg UTSW 19 6320555 missense possibly damaging 0.69
R4731:Cdc42bpg UTSW 19 6311191 missense probably damaging 1.00
R4732:Cdc42bpg UTSW 19 6311191 missense probably damaging 1.00
R4733:Cdc42bpg UTSW 19 6311191 missense probably damaging 1.00
R4797:Cdc42bpg UTSW 19 6320447 missense probably damaging 1.00
R4831:Cdc42bpg UTSW 19 6311335 missense probably damaging 0.97
R4984:Cdc42bpg UTSW 19 6316223 missense possibly damaging 0.88
R5092:Cdc42bpg UTSW 19 6313220 missense probably benign 0.01
R5135:Cdc42bpg UTSW 19 6320618 missense probably damaging 1.00
R5183:Cdc42bpg UTSW 19 6321805 intron probably benign
R5208:Cdc42bpg UTSW 19 6321720 missense probably benign 0.01
R5240:Cdc42bpg UTSW 19 6315899 missense probably damaging 1.00
R5475:Cdc42bpg UTSW 19 6311071 missense probably damaging 0.99
R5703:Cdc42bpg UTSW 19 6322673 missense possibly damaging 0.87
R5876:Cdc42bpg UTSW 19 6310815 missense probably damaging 1.00
R6024:Cdc42bpg UTSW 19 6317496 missense probably damaging 1.00
R6266:Cdc42bpg UTSW 19 6311473 missense probably damaging 1.00
R6450:Cdc42bpg UTSW 19 6314488 splice site probably null
R6493:Cdc42bpg UTSW 19 6318455 missense probably damaging 0.96
R6983:Cdc42bpg UTSW 19 6321668 missense probably damaging 1.00
R7080:Cdc42bpg UTSW 19 6315189 missense probably damaging 0.97
R7125:Cdc42bpg UTSW 19 6322291 missense probably damaging 1.00
R7183:Cdc42bpg UTSW 19 6310797 missense probably damaging 1.00
R7317:Cdc42bpg UTSW 19 6314504 missense probably benign 0.11
R7426:Cdc42bpg UTSW 19 6318398 missense probably damaging 1.00
R7504:Cdc42bpg UTSW 19 6306784 missense possibly damaging 0.85
R7530:Cdc42bpg UTSW 19 6322275 missense probably benign 0.21
R7530:Cdc42bpg UTSW 19 6322276 missense probably benign 0.12
R7739:Cdc42bpg UTSW 19 6310815 missense probably damaging 1.00
R7903:Cdc42bpg UTSW 19 6313469 missense possibly damaging 0.94
R7986:Cdc42bpg UTSW 19 6313469 missense possibly damaging 0.94
Z1177:Cdc42bpg UTSW 19 6309746 missense probably damaging 1.00
Z1177:Cdc42bpg UTSW 19 6314522 missense possibly damaging 0.94
Z1177:Cdc42bpg UTSW 19 6314523 missense probably damaging 1.00
Posted On2015-04-16