Incidental Mutation 'IGL01982:Ccdc141'
ID182784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc141
Ensembl Gene ENSMUSG00000044033
Gene Namecoiled-coil domain containing 141
SynonymsENSMUSG00000075261, 2610301F02Rik, CAMDI
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.462) question?
Stock #IGL01982
Quality Score
Status
Chromosome2
Chromosomal Location77009902-77170636 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 77030659 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 925 (F925L)
Ref Sequence ENSEMBL: ENSMUSP00000128736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049544] [ENSMUST00000164114]
Predicted Effect probably damaging
Transcript: ENSMUST00000049544
AA Change: F925L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: F925L

DomainStartEndE-ValueType
SPEC 26 128 2.87e-1 SMART
Blast:SPEC 132 222 1e-40 BLAST
low complexity region 223 251 N/A INTRINSIC
SPEC 252 353 3.61e-1 SMART
Blast:SPEC 356 453 2e-49 BLAST
Blast:SPEC 461 562 1e-16 BLAST
low complexity region 569 583 N/A INTRINSIC
Blast:SPEC 688 772 7e-30 BLAST
low complexity region 773 785 N/A INTRINSIC
Blast:SPEC 790 894 2e-24 BLAST
Blast:SPEC 907 1009 4e-44 BLAST
Blast:SPEC 1012 1118 9e-63 BLAST
low complexity region 1203 1231 N/A INTRINSIC
Blast:IG 1305 1416 5e-54 BLAST
SCOP:d1g1ca_ 1406 1443 1e-9 SMART
Blast:IG 1416 1444 2e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154013
Predicted Effect probably damaging
Transcript: ENSMUST00000164114
AA Change: F925L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: F925L

DomainStartEndE-ValueType
SPEC 26 128 2.87e-1 SMART
Blast:SPEC 132 222 2e-40 BLAST
low complexity region 223 251 N/A INTRINSIC
SPEC 252 353 3.61e-1 SMART
Blast:SPEC 356 453 2e-49 BLAST
Blast:SPEC 461 562 1e-16 BLAST
low complexity region 569 583 N/A INTRINSIC
Blast:SPEC 688 772 7e-30 BLAST
low complexity region 773 785 N/A INTRINSIC
Blast:SPEC 790 894 3e-24 BLAST
Blast:SPEC 907 1009 4e-44 BLAST
Blast:SPEC 1012 1118 1e-62 BLAST
low complexity region 1203 1231 N/A INTRINSIC
IGc2 1422 1489 1.27e-5 SMART
transmembrane domain 1510 1529 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175840
Predicted Effect unknown
Transcript: ENSMUST00000179467
AA Change: F150L
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous knockout impairs migration of neurons in the somatosensory cortex, resulting in increased anxiety and hyperactivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T G 17: 33,066,315 E504D probably benign Het
Abca12 A C 1: 71,346,698 S254A probably benign Het
Abca7 T G 10: 80,002,641 L583R probably damaging Het
Acp1 A T 12: 30,911,492 L14H possibly damaging Het
Adar A G 3: 89,738,090 I3V probably benign Het
Adh4 C T 3: 138,429,027 probably benign Het
Aldh1l1 A G 6: 90,559,863 I103V probably benign Het
Asic3 C A 5: 24,417,721 T523N probably benign Het
Aspm T C 1: 139,491,588 V1732A probably benign Het
Atad3a C T 4: 155,753,927 R211Q possibly damaging Het
Bahcc1 A G 11: 120,287,473 Y2286C probably damaging Het
BC034090 T C 1: 155,223,332 E569G probably damaging Het
Bpifb3 A G 2: 153,925,601 N237S probably benign Het
Bysl C A 17: 47,611,071 probably null Het
C2cd6 T C 1: 59,067,773 probably benign Het
Cdca2 A T 14: 67,677,719 V697E probably damaging Het
Cers1 A G 8: 70,323,431 D324G probably damaging Het
Ctsq C T 13: 61,039,521 C11Y probably benign Het
Ctsq T A 13: 61,038,918 I91F probably benign Het
Cyp11b1 T C 15: 74,839,403 N142S possibly damaging Het
Cyp3a59 G T 5: 146,104,735 S363I probably benign Het
Eps15l1 A T 8: 72,379,075 D567E probably benign Het
Esf1 G A 2: 140,164,528 A233V probably benign Het
Fras1 A T 5: 96,739,248 I2630F possibly damaging Het
Fyb A T 15: 6,580,177 E77V probably null Het
Gjb6 C A 14: 57,124,573 W77L probably damaging Het
Gm21983 A G 7: 27,180,278 V88A possibly damaging Het
Gm8247 A G 14: 44,585,631 T52A probably damaging Het
Gpr108 T C 17: 57,237,877 K329E probably damaging Het
Gpr141 T A 13: 19,751,738 H289L probably benign Het
Ilvbl T C 10: 78,579,022 Y240H probably damaging Het
Kntc1 G A 5: 123,809,096 A1868T probably benign Het
Lrmda A C 14: 22,584,482 N112T probably damaging Het
Ly75 T C 2: 60,311,764 Y1334C probably damaging Het
Macc1 C A 12: 119,445,634 P46T probably benign Het
Madd A T 2: 91,175,707 F381Y probably damaging Het
Map3k20 C T 2: 72,298,333 Q38* probably null Het
Mcm4 A T 16: 15,630,420 D424E possibly damaging Het
Micu1 T A 10: 59,863,278 M463K possibly damaging Het
Mkrn2os A G 6: 115,585,531 L157P probably damaging Het
Nectin2 A G 7: 19,717,562 S516P probably damaging Het
Nme5 T A 18: 34,569,875 D120V probably damaging Het
Npy4r T C 14: 34,147,325 N2S possibly damaging Het
Nup107 A T 10: 117,759,340 probably benign Het
Omd T C 13: 49,589,497 Y8H possibly damaging Het
Ppp1r15a T C 7: 45,524,379 probably benign Het
Ppp2ca T C 11: 52,099,064 F6L probably benign Het
Rab1a T C 11: 20,224,717 S97P probably benign Het
Ranbp3l G A 15: 9,058,746 G359R probably damaging Het
Rnf213 A T 11: 119,443,268 H3101L probably damaging Het
Slc27a4 T C 2: 29,812,615 F509S probably damaging Het
Slco4a1 T C 2: 180,473,153 V623A probably benign Het
Spg20 T A 3: 55,128,490 probably null Het
Sptan1 A G 2: 30,019,968 D1780G probably damaging Het
Tgm7 G T 2: 121,093,625 Y605* probably null Het
Tmem106b T C 6: 13,071,969 probably benign Het
Trak2 G A 1: 58,926,655 A120V possibly damaging Het
Trappc8 G A 18: 20,874,712 probably benign Het
Trim66 T C 7: 109,458,763 T973A probably benign Het
Ttyh3 C A 5: 140,636,074 probably benign Het
Ugt2b37 A C 5: 87,242,432 I385S probably damaging Het
Usf3 A G 16: 44,218,817 N1220S possibly damaging Het
Utrn A T 10: 12,748,029 I155N probably damaging Het
Vps13b C T 15: 35,438,904 Q377* probably null Het
Washc2 A T 6: 116,236,189 E570D probably benign Het
Wscd1 T C 11: 71,766,873 V168A possibly damaging Het
Zfp386 T A 12: 116,059,168 C169S probably benign Het
Other mutations in Ccdc141
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Ccdc141 APN 2 77054644 missense probably damaging 0.98
IGL01396:Ccdc141 APN 2 77128325 missense possibly damaging 0.87
IGL01408:Ccdc141 APN 2 77045679 missense probably benign 0.01
IGL01633:Ccdc141 APN 2 77089249 missense probably benign 0.01
IGL02105:Ccdc141 APN 2 77049577 critical splice donor site probably null
IGL02307:Ccdc141 APN 2 77029342 missense probably damaging 1.00
IGL02645:Ccdc141 APN 2 77074867 nonsense probably null
IGL02737:Ccdc141 APN 2 77057924 missense probably damaging 0.97
IGL02740:Ccdc141 APN 2 77054609 missense probably benign 0.05
IGL02949:Ccdc141 APN 2 77027594 missense probably damaging 1.00
IGL03127:Ccdc141 APN 2 77029235 critical splice donor site probably null
R0153:Ccdc141 UTSW 2 77165238 intron probably benign
R0384:Ccdc141 UTSW 2 77027648 missense probably damaging 1.00
R0423:Ccdc141 UTSW 2 77039450 missense probably damaging 0.96
R0573:Ccdc141 UTSW 2 77039493 missense probably benign 0.00
R1332:Ccdc141 UTSW 2 77014440 missense probably damaging 1.00
R1336:Ccdc141 UTSW 2 77014440 missense probably damaging 1.00
R1355:Ccdc141 UTSW 2 77030601 missense probably damaging 1.00
R1416:Ccdc141 UTSW 2 77014796 missense probably damaging 1.00
R1659:Ccdc141 UTSW 2 77054683 missense probably benign 0.41
R1726:Ccdc141 UTSW 2 77108356 splice site probably benign
R1799:Ccdc141 UTSW 2 77011671 missense possibly damaging 0.88
R1837:Ccdc141 UTSW 2 77011665 missense probably benign 0.00
R1839:Ccdc141 UTSW 2 77011665 missense probably benign 0.00
R1918:Ccdc141 UTSW 2 77014703 missense probably benign 0.00
R2019:Ccdc141 UTSW 2 77011565 missense probably damaging 1.00
R2133:Ccdc141 UTSW 2 77059607 missense probably benign 0.28
R2158:Ccdc141 UTSW 2 77030671 missense probably damaging 1.00
R2256:Ccdc141 UTSW 2 77132262 missense probably damaging 1.00
R2359:Ccdc141 UTSW 2 77170402 missense probably damaging 1.00
R2382:Ccdc141 UTSW 2 77011542 missense probably damaging 1.00
R2382:Ccdc141 UTSW 2 77074998 missense probably benign 0.11
R3110:Ccdc141 UTSW 2 77039486 missense probably benign 0.31
R3112:Ccdc141 UTSW 2 77039486 missense probably benign 0.31
R4334:Ccdc141 UTSW 2 77170432 missense probably damaging 1.00
R4493:Ccdc141 UTSW 2 77132297 missense probably damaging 1.00
R4494:Ccdc141 UTSW 2 77132297 missense probably damaging 1.00
R4628:Ccdc141 UTSW 2 77059680 missense probably benign 0.02
R4748:Ccdc141 UTSW 2 77057980 missense possibly damaging 0.67
R4810:Ccdc141 UTSW 2 77045755 missense possibly damaging 0.73
R4824:Ccdc141 UTSW 2 77124336 missense probably damaging 0.99
R4829:Ccdc141 UTSW 2 77074916 missense probably damaging 0.99
R4920:Ccdc141 UTSW 2 77168563 missense probably damaging 1.00
R5024:Ccdc141 UTSW 2 77054703 missense probably benign 0.17
R5073:Ccdc141 UTSW 2 77124378 splice site probably null
R5251:Ccdc141 UTSW 2 77027774 missense probably damaging 1.00
R5252:Ccdc141 UTSW 2 77132249 missense probably benign 0.03
R5534:Ccdc141 UTSW 2 77057897 missense probably benign
R5539:Ccdc141 UTSW 2 77015093 missense probably damaging 0.98
R5551:Ccdc141 UTSW 2 77014409 missense probably damaging 1.00
R5784:Ccdc141 UTSW 2 77029327 missense probably damaging 1.00
R5837:Ccdc141 UTSW 2 77108437 missense possibly damaging 0.56
R5850:Ccdc141 UTSW 2 77029403 missense probably damaging 0.98
R6050:Ccdc141 UTSW 2 77011731 missense probably benign 0.33
R6263:Ccdc141 UTSW 2 77108463 missense probably damaging 1.00
R6502:Ccdc141 UTSW 2 77170401 missense probably damaging 1.00
R6580:Ccdc141 UTSW 2 77011755 missense possibly damaging 0.50
R6865:Ccdc141 UTSW 2 77029235 critical splice donor site probably null
Z1088:Ccdc141 UTSW 2 77128272 missense probably benign 0.03
Posted On2014-05-07