Incidental Mutation 'IGL02504:Ccdc162'
ID 296217
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc162
Ensembl Gene ENSMUSG00000075225
Gene Name coiled-coil domain containing 162
Synonyms 5033413D22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL02504
Quality Score
Status
Chromosome 10
Chromosomal Location 41538846-41716634 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41552388 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 692 (L692Q)
Ref Sequence ENSEMBL: ENSMUSP00000151415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019955] [ENSMUST00000099932] [ENSMUST00000179614] [ENSMUST00000189488] [ENSMUST00000219054]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000019955
AA Change: L128Q

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019955
Gene: ENSMUSG00000075225
AA Change: L128Q

DomainStartEndE-ValueType
coiled coil region 1 37 N/A INTRINSIC
low complexity region 116 138 N/A INTRINSIC
coiled coil region 177 217 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095227
AA Change: L315Q

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000092852
Gene: ENSMUSG00000075225
AA Change: L315Q

DomainStartEndE-ValueType
coiled coil region 140 179 N/A INTRINSIC
low complexity region 304 326 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099932
AA Change: L502Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097516
Gene: ENSMUSG00000075225
AA Change: L502Q

DomainStartEndE-ValueType
coiled coil region 327 366 N/A INTRINSIC
low complexity region 490 512 N/A INTRINSIC
coiled coil region 551 607 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164074
Predicted Effect probably damaging
Transcript: ENSMUST00000179614
AA Change: L692Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135966
Gene: ENSMUSG00000075225
AA Change: L692Q

DomainStartEndE-ValueType
coiled coil region 517 556 N/A INTRINSIC
low complexity region 680 702 N/A INTRINSIC
coiled coil region 741 797 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189488
AA Change: L1965Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140774
Gene: ENSMUSG00000075225
AA Change: L1965Q

DomainStartEndE-ValueType
low complexity region 328 347 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000219054
AA Change: L692Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 T A 4: 126,517,439 N142I probably benign Het
Asf1b A G 8: 83,955,829 M1V probably null Het
Astn1 T C 1: 158,502,408 C278R probably damaging Het
Cd207 T A 6: 83,677,806 probably benign Het
Chd5 T A 4: 152,363,322 N548K probably damaging Het
Col7a1 G A 9: 108,980,675 G2659D unknown Het
Cpa6 A T 1: 10,488,919 Y75N probably benign Het
Cspg4 G T 9: 56,885,772 V264L probably benign Het
Cyp3a25 T A 5: 145,993,331 I155L probably benign Het
Dock6 A G 9: 21,846,655 I51T probably benign Het
Dse G T 10: 34,152,800 Q765K probably benign Het
Fam219b A T 9: 57,538,068 M87L probably benign Het
Fat3 G A 9: 15,959,798 R3766C probably damaging Het
Fcnb A C 2: 28,076,594 M309R probably damaging Het
Fnbp4 C A 2: 90,768,543 N670K probably damaging Het
Fsip2 T A 2: 82,978,855 N1839K possibly damaging Het
G6pc2 A G 2: 69,226,595 H195R probably damaging Het
Gm14179 A T 11: 99,743,177 Het
Grm5 A G 7: 88,130,772 N1172S probably benign Het
Hsd17b14 A G 7: 45,556,375 T64A possibly damaging Het
Hspb7 G T 4: 141,421,820 E12D probably benign Het
Kdm2a T C 19: 4,356,771 N155D possibly damaging Het
Klhl24 A T 16: 20,115,943 R389* probably null Het
Kmt2b A G 7: 30,586,543 probably benign Het
Krt4 T A 15: 101,919,292 I469F unknown Het
Mto1 A T 9: 78,460,927 D451V probably damaging Het
Muc5b A T 7: 141,846,440 D477V unknown Het
Pcsk5 A G 19: 17,477,872 probably null Het
Ppil4 T A 10: 7,820,984 Y420* probably null Het
Ppp2r5d A T 17: 46,700,093 D27E probably benign Het
Prkd2 T C 7: 16,857,832 L596P probably damaging Het
Prr30 T C 14: 101,198,620 I169V probably benign Het
Rtl9 A T X: 143,102,291 T900S probably benign Het
Sash1 A G 10: 8,729,912 S905P probably benign Het
Scn2a G A 2: 65,683,884 G304D probably benign Het
Scp2d1 T C 2: 144,823,957 L72P probably damaging Het
Sept2 T A 1: 93,500,481 H166Q probably benign Het
Sgcb A G 5: 73,644,375 I49T probably damaging Het
Smyd4 T A 11: 75,390,681 W327R probably damaging Het
Sptbn1 C T 11: 30,142,293 E491K probably damaging Het
Tcaf1 A T 6: 42,679,279 H254Q probably benign Het
Tll1 A C 8: 64,070,237 D480E possibly damaging Het
Tlr3 G A 8: 45,397,907 T127M probably damaging Het
Trio A T 15: 27,847,390 C929* probably null Het
Ttn C T 2: 76,798,150 W12809* probably null Het
Ugt2b35 T A 5: 87,001,541 M217K possibly damaging Het
Unc13b T C 4: 43,263,031 V4261A probably damaging Het
Uqcrc2 T C 7: 120,643,031 I82T probably benign Het
Usp21 A G 1: 171,285,023 I266T probably benign Het
Veph1 A T 3: 66,172,130 H321Q probably damaging Het
Vmn1r29 A C 6: 58,307,670 Y125S probably benign Het
Other mutations in Ccdc162
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Ccdc162 APN 10 41581339 missense probably benign 0.01
IGL01366:Ccdc162 APN 10 41580306 missense possibly damaging 0.49
IGL01924:Ccdc162 APN 10 41569887 missense probably damaging 1.00
IGL02678:Ccdc162 APN 10 41561155 missense probably damaging 0.99
IGL02955:Ccdc162 APN 10 41561127 missense probably damaging 1.00
beeswax UTSW 10 41561226 missense possibly damaging 0.57
honeycomb UTSW 10 41644641 missense probably benign 0.35
FR4304:Ccdc162 UTSW 10 41556121 missense possibly damaging 0.49
R0432:Ccdc162 UTSW 10 41541860 missense probably benign 0.01
R0585:Ccdc162 UTSW 10 41586379 missense probably benign 0.03
R0645:Ccdc162 UTSW 10 41586411 splice site probably benign
R0731:Ccdc162 UTSW 10 41579143 missense probably damaging 1.00
R1426:Ccdc162 UTSW 10 41553182 missense possibly damaging 0.89
R1447:Ccdc162 UTSW 10 41580247 missense probably damaging 1.00
R1712:Ccdc162 UTSW 10 41539431 missense probably benign 0.35
R2138:Ccdc162 UTSW 10 41581297 missense probably benign 0.15
R2351:Ccdc162 UTSW 10 41555972 critical splice donor site probably null
R2394:Ccdc162 UTSW 10 41569898 missense probably damaging 1.00
R2431:Ccdc162 UTSW 10 41569845 missense probably benign
R2571:Ccdc162 UTSW 10 41552397 missense probably damaging 1.00
R2873:Ccdc162 UTSW 10 41655099 missense possibly damaging 0.68
R2926:Ccdc162 UTSW 10 41561207 start gained probably benign
R2999:Ccdc162 UTSW 10 41580290 missense probably benign 0.00
R3412:Ccdc162 UTSW 10 41539549 splice site probably benign
R3712:Ccdc162 UTSW 10 41587379 missense probably benign
R3736:Ccdc162 UTSW 10 41589568 splice site probably null
R4112:Ccdc162 UTSW 10 41656328 missense possibly damaging 0.77
R4557:Ccdc162 UTSW 10 41587388 missense probably benign 0.01
R4580:Ccdc162 UTSW 10 41561140 missense probably benign 0.02
R4685:Ccdc162 UTSW 10 41681686 missense possibly damaging 0.89
R4837:Ccdc162 UTSW 10 41673867 missense probably benign 0.00
R5155:Ccdc162 UTSW 10 41553580 splice site probably null
R5155:Ccdc162 UTSW 10 41579151 missense probably damaging 1.00
R5645:Ccdc162 UTSW 10 41552356 missense probably benign 0.06
R5656:Ccdc162 UTSW 10 41569934 missense probably benign 0.26
R5682:Ccdc162 UTSW 10 41556803 nonsense probably null
R5808:Ccdc162 UTSW 10 41655504 missense possibly damaging 0.62
R5909:Ccdc162 UTSW 10 41561115 missense probably damaging 1.00
R6000:Ccdc162 UTSW 10 41561163 missense possibly damaging 0.75
R6057:Ccdc162 UTSW 10 41634041 missense possibly damaging 0.72
R6211:Ccdc162 UTSW 10 41630145 nonsense probably null
R6264:Ccdc162 UTSW 10 41694468 missense probably benign 0.31
R6329:Ccdc162 UTSW 10 41663151 missense possibly damaging 0.76
R6349:Ccdc162 UTSW 10 41694400 missense probably damaging 0.97
R6398:Ccdc162 UTSW 10 41627149 missense probably damaging 1.00
R6453:Ccdc162 UTSW 10 41550825 missense probably damaging 1.00
R6602:Ccdc162 UTSW 10 41615980 missense probably benign 0.00
R6627:Ccdc162 UTSW 10 41663185 missense probably damaging 1.00
R6722:Ccdc162 UTSW 10 41644641 missense probably benign 0.35
R6750:Ccdc162 UTSW 10 41561226 missense possibly damaging 0.57
R6968:Ccdc162 UTSW 10 41673844 missense possibly damaging 0.55
R6970:Ccdc162 UTSW 10 41615958 missense probably benign 0.03
R6989:Ccdc162 UTSW 10 41581353 missense probably damaging 0.99
R7008:Ccdc162 UTSW 10 41552415 missense probably damaging 1.00
R7135:Ccdc162 UTSW 10 41673859 missense probably benign 0.00
R7139:Ccdc162 UTSW 10 41666721 missense possibly damaging 0.49
R7224:Ccdc162 UTSW 10 41561191 missense probably damaging 1.00
R7230:Ccdc162 UTSW 10 41678813 missense probably damaging 1.00
R7256:Ccdc162 UTSW 10 41556001 missense probably damaging 0.99
R7261:Ccdc162 UTSW 10 41561140 missense probably benign 0.02
R7390:Ccdc162 UTSW 10 41634048 missense probably benign
R7712:Ccdc162 UTSW 10 41627227 missense possibly damaging 0.56
R7726:Ccdc162 UTSW 10 41553075 missense probably benign 0.00
R7754:Ccdc162 UTSW 10 41587375 missense probably damaging 1.00
R7764:Ccdc162 UTSW 10 41690113 missense possibly damaging 0.95
R8053:Ccdc162 UTSW 10 41644581 missense probably benign
R8088:Ccdc162 UTSW 10 41623414 missense possibly damaging 0.68
R8094:Ccdc162 UTSW 10 41612868 missense probably benign 0.02
R8097:Ccdc162 UTSW 10 41634119 missense probably benign 0.03
R8377:Ccdc162 UTSW 10 41581310 missense probably benign 0.08
R8399:Ccdc162 UTSW 10 41539521 missense probably damaging 1.00
R8669:Ccdc162 UTSW 10 41552356 missense probably benign 0.06
R8772:Ccdc162 UTSW 10 41630037 missense probably damaging 0.99
R8810:Ccdc162 UTSW 10 41666741 missense probably benign 0.41
R8903:Ccdc162 UTSW 10 41655444 critical splice donor site probably null
R8928:Ccdc162 UTSW 10 41586249 splice site probably benign
R8950:Ccdc162 UTSW 10 41598511 missense probably benign 0.00
R8960:Ccdc162 UTSW 10 41553182 missense probably damaging 0.96
R8985:Ccdc162 UTSW 10 41556106 missense probably damaging 1.00
R9071:Ccdc162 UTSW 10 41581178 nonsense probably null
R9254:Ccdc162 UTSW 10 41612948 critical splice acceptor site probably null
R9297:Ccdc162 UTSW 10 41630114 missense probably benign
R9318:Ccdc162 UTSW 10 41630114 missense probably benign
R9518:Ccdc162 UTSW 10 41589576 missense probably damaging 1.00
R9525:Ccdc162 UTSW 10 41683226 missense probably damaging 0.99
R9539:Ccdc162 UTSW 10 41587411 missense possibly damaging 0.54
Z1176:Ccdc162 UTSW 10 41553131 missense probably benign 0.00
Z1176:Ccdc162 UTSW 10 41605108 missense possibly damaging 0.84
Z1176:Ccdc162 UTSW 10 41654997 missense possibly damaging 0.84
Z1176:Ccdc162 UTSW 10 41690092 missense probably benign 0.00
Z1177:Ccdc162 UTSW 10 41683195 missense probably benign 0.00
Posted On 2015-04-16