Incidental Mutation 'R5837:Ccdc141'
ID 449628
Institutional Source Beutler Lab
Gene Symbol Ccdc141
Ensembl Gene ENSMUSG00000044033
Gene Name coiled-coil domain containing 141
Synonyms ENSMUSG00000075261, CAMDI, 2610301F02Rik
MMRRC Submission 044057-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5837 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 76840246-77000980 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 76938781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 275 (Q275K)
Ref Sequence ENSEMBL: ENSMUSP00000128736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049544] [ENSMUST00000164114]
AlphaFold E9Q8Q6
Predicted Effect noncoding transcript
Transcript: ENSMUST00000028406
Predicted Effect possibly damaging
Transcript: ENSMUST00000049544
AA Change: Q275K

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: Q275K

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: ENSMUST00000131660
Predicted Effect possibly damaging
Transcript: ENSMUST00000164114
AA Change: Q275K

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: Q275K

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
Meta Mutation Damage Score 0.0752 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 99% (72/73)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,323,371 (GRCm39) R113Q probably benign Het
Ank1 A G 8: 23,594,806 (GRCm39) N605D probably damaging Het
Apob A G 12: 8,053,277 (GRCm39) M1240V probably benign Het
Atf1 T A 15: 100,152,265 (GRCm39) I86N probably damaging Het
Best1 T A 19: 9,966,483 (GRCm39) probably null Het
Bet1l C A 7: 140,434,694 (GRCm39) R51L probably benign Het
Bpifa5 A G 2: 154,005,598 (GRCm39) Y60C probably damaging Het
Cep295 T A 9: 15,258,280 (GRCm39) H241L probably damaging Het
Commd7 A G 2: 153,471,144 (GRCm39) V36A possibly damaging Het
Cyld G A 8: 89,468,032 (GRCm39) S555N probably damaging Het
Cyp2j13 A T 4: 95,959,919 (GRCm39) I79N probably damaging Het
Dact2 A G 17: 14,416,515 (GRCm39) S562P probably damaging Het
Dnajc13 T A 9: 104,053,865 (GRCm39) I1664F possibly damaging Het
Ehmt1 A G 2: 24,753,926 (GRCm39) V277A probably damaging Het
Fbn1 A T 2: 125,221,054 (GRCm39) probably null Het
Galnt6 G A 15: 100,592,527 (GRCm39) T560M possibly damaging Het
Glra1 G T 11: 55,427,333 (GRCm39) probably null Het
Gm10762 C T 2: 128,809,077 (GRCm39) probably benign Het
Greb1 C T 12: 16,738,586 (GRCm39) R1459H probably damaging Het
Ift140 A G 17: 25,308,514 (GRCm39) K1048E probably damaging Het
Ilk T C 7: 105,390,378 (GRCm39) probably null Het
Lgi4 C T 7: 30,770,208 (GRCm39) probably benign Het
Loxhd1 A G 18: 77,374,105 (GRCm39) T59A possibly damaging Het
Lzic G T 4: 149,570,457 (GRCm39) probably null Het
Mef2d A G 3: 88,069,088 (GRCm39) T286A probably benign Het
Mycbp2 C A 14: 103,361,839 (GRCm39) C4447F probably damaging Het
Ncoa2 A G 1: 13,294,930 (GRCm39) probably benign Het
Nolc1 T C 19: 46,071,622 (GRCm39) probably benign Het
Npl T C 1: 153,379,271 (GRCm39) T271A probably benign Het
Nudt1 A G 5: 140,320,295 (GRCm39) R25G probably damaging Het
Nudt19 T C 7: 35,251,061 (GRCm39) E226G possibly damaging Het
Oc90 T C 15: 65,748,295 (GRCm39) D405G probably benign Het
Or10q1b T A 19: 13,682,324 (GRCm39) C44* probably null Het
Or1e1c A G 11: 73,266,474 (GRCm39) M300V probably benign Het
Or5as1 A T 2: 86,980,699 (GRCm39) F102Y probably benign Het
Or9k2b A T 10: 130,016,266 (GRCm39) L161H probably damaging Het
Pcdhb1 T C 18: 37,398,880 (GRCm39) I277T possibly damaging Het
Pcdhb9 C A 18: 37,535,851 (GRCm39) A615E probably damaging Het
Phrf1 C G 7: 140,839,974 (GRCm39) D1056E probably benign Het
Phyhip C A 14: 70,704,450 (GRCm39) A223E probably damaging Het
Polr2h T A 16: 20,536,682 (GRCm39) I4N probably damaging Het
Ppp1r12c C A 7: 4,500,403 (GRCm39) probably benign Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Psg17 T A 7: 18,554,140 (GRCm39) T37S possibly damaging Het
Ptprz1 T C 6: 23,001,417 (GRCm39) V1169A probably benign Het
Rabgap1l T C 1: 160,134,792 (GRCm39) probably benign Het
Rapgef3 C T 15: 97,655,223 (GRCm39) probably benign Het
Rbp3 C A 14: 33,676,230 (GRCm39) H59Q probably benign Het
Robo3 T A 9: 37,341,112 (GRCm39) probably null Het
Slco4c1 C T 1: 96,746,707 (GRCm39) E712K probably benign Het
Ssh3 T C 19: 4,316,428 (GRCm39) T168A probably benign Het
Stoml2 G T 4: 43,028,989 (GRCm39) N248K probably damaging Het
Tmigd1 A G 11: 76,806,911 (GRCm39) probably benign Het
Tnc T A 4: 63,931,451 (GRCm39) D753V probably damaging Het
Tnik A T 3: 28,722,202 (GRCm39) probably benign Het
Treml1 A G 17: 48,667,180 (GRCm39) S22G possibly damaging Het
Trmt2a C T 16: 18,067,326 (GRCm39) probably benign Het
Ttn T C 2: 76,547,718 (GRCm39) T32151A probably damaging Het
Utp25 A T 1: 192,800,701 (GRCm39) F373Y probably damaging Het
Vmn1r67 T C 7: 10,180,949 (GRCm39) I10T probably benign Het
Vmn2r116 T C 17: 23,606,054 (GRCm39) F322S probably damaging Het
Wdr19 A G 5: 65,360,300 (GRCm39) D35G probably benign Het
Zfp365 A T 10: 67,724,870 (GRCm39) H339Q probably damaging Het
Zfp677 A T 17: 21,617,648 (GRCm39) H235L probably damaging Het
Zpbp2 G A 11: 98,442,097 (GRCm39) probably benign Het
Other mutations in Ccdc141
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Ccdc141 APN 2 76,884,988 (GRCm39) missense probably damaging 0.98
IGL01396:Ccdc141 APN 2 76,958,669 (GRCm39) missense possibly damaging 0.87
IGL01408:Ccdc141 APN 2 76,876,023 (GRCm39) missense probably benign 0.01
IGL01633:Ccdc141 APN 2 76,919,593 (GRCm39) missense probably benign 0.01
IGL01982:Ccdc141 APN 2 76,861,003 (GRCm39) missense probably damaging 1.00
IGL02105:Ccdc141 APN 2 76,879,921 (GRCm39) critical splice donor site probably null
IGL02307:Ccdc141 APN 2 76,859,686 (GRCm39) missense probably damaging 1.00
IGL02645:Ccdc141 APN 2 76,905,211 (GRCm39) nonsense probably null
IGL02737:Ccdc141 APN 2 76,888,268 (GRCm39) missense probably damaging 0.97
IGL02740:Ccdc141 APN 2 76,884,953 (GRCm39) missense probably benign 0.05
IGL02949:Ccdc141 APN 2 76,857,938 (GRCm39) missense probably damaging 1.00
IGL03127:Ccdc141 APN 2 76,859,579 (GRCm39) critical splice donor site probably null
Verloren UTSW 2 76,857,992 (GRCm39) missense probably damaging 1.00
Verschied UTSW 2 76,938,700 (GRCm39) splice site probably benign
R0153:Ccdc141 UTSW 2 76,995,582 (GRCm39) intron probably benign
R0384:Ccdc141 UTSW 2 76,857,992 (GRCm39) missense probably damaging 1.00
R0423:Ccdc141 UTSW 2 76,869,794 (GRCm39) missense probably damaging 0.96
R0573:Ccdc141 UTSW 2 76,869,837 (GRCm39) missense probably benign 0.00
R1332:Ccdc141 UTSW 2 76,844,784 (GRCm39) missense probably damaging 1.00
R1336:Ccdc141 UTSW 2 76,844,784 (GRCm39) missense probably damaging 1.00
R1355:Ccdc141 UTSW 2 76,860,945 (GRCm39) missense probably damaging 1.00
R1416:Ccdc141 UTSW 2 76,845,140 (GRCm39) missense probably damaging 1.00
R1659:Ccdc141 UTSW 2 76,885,027 (GRCm39) missense probably benign 0.41
R1726:Ccdc141 UTSW 2 76,938,700 (GRCm39) splice site probably benign
R1799:Ccdc141 UTSW 2 76,842,015 (GRCm39) missense possibly damaging 0.88
R1837:Ccdc141 UTSW 2 76,842,009 (GRCm39) missense probably benign 0.00
R1839:Ccdc141 UTSW 2 76,842,009 (GRCm39) missense probably benign 0.00
R1918:Ccdc141 UTSW 2 76,845,047 (GRCm39) missense probably benign 0.00
R2019:Ccdc141 UTSW 2 76,841,909 (GRCm39) missense probably damaging 1.00
R2133:Ccdc141 UTSW 2 76,889,951 (GRCm39) missense probably benign 0.28
R2158:Ccdc141 UTSW 2 76,861,015 (GRCm39) missense probably damaging 1.00
R2256:Ccdc141 UTSW 2 76,962,606 (GRCm39) missense probably damaging 1.00
R2359:Ccdc141 UTSW 2 77,000,746 (GRCm39) missense probably damaging 1.00
R2382:Ccdc141 UTSW 2 76,905,342 (GRCm39) missense probably benign 0.11
R2382:Ccdc141 UTSW 2 76,841,886 (GRCm39) missense probably damaging 1.00
R3110:Ccdc141 UTSW 2 76,869,830 (GRCm39) missense probably benign 0.31
R3112:Ccdc141 UTSW 2 76,869,830 (GRCm39) missense probably benign 0.31
R4334:Ccdc141 UTSW 2 77,000,776 (GRCm39) missense probably damaging 1.00
R4493:Ccdc141 UTSW 2 76,962,641 (GRCm39) missense probably damaging 1.00
R4494:Ccdc141 UTSW 2 76,962,641 (GRCm39) missense probably damaging 1.00
R4628:Ccdc141 UTSW 2 76,890,024 (GRCm39) missense probably benign 0.02
R4748:Ccdc141 UTSW 2 76,888,324 (GRCm39) missense possibly damaging 0.67
R4810:Ccdc141 UTSW 2 76,876,099 (GRCm39) missense possibly damaging 0.73
R4824:Ccdc141 UTSW 2 76,954,680 (GRCm39) missense probably damaging 0.99
R4829:Ccdc141 UTSW 2 76,905,260 (GRCm39) missense probably damaging 0.99
R4920:Ccdc141 UTSW 2 76,998,907 (GRCm39) missense probably damaging 1.00
R5024:Ccdc141 UTSW 2 76,885,047 (GRCm39) missense probably benign 0.17
R5073:Ccdc141 UTSW 2 76,954,722 (GRCm39) splice site probably null
R5251:Ccdc141 UTSW 2 76,858,118 (GRCm39) missense probably damaging 1.00
R5252:Ccdc141 UTSW 2 76,962,593 (GRCm39) missense probably benign 0.03
R5534:Ccdc141 UTSW 2 76,888,241 (GRCm39) missense probably benign
R5539:Ccdc141 UTSW 2 76,845,437 (GRCm39) missense probably damaging 0.98
R5551:Ccdc141 UTSW 2 76,844,753 (GRCm39) missense probably damaging 1.00
R5784:Ccdc141 UTSW 2 76,859,671 (GRCm39) missense probably damaging 1.00
R5850:Ccdc141 UTSW 2 76,859,747 (GRCm39) missense probably damaging 0.98
R6050:Ccdc141 UTSW 2 76,842,075 (GRCm39) missense probably benign 0.33
R6263:Ccdc141 UTSW 2 76,938,807 (GRCm39) missense probably damaging 1.00
R6502:Ccdc141 UTSW 2 77,000,745 (GRCm39) missense probably damaging 1.00
R6580:Ccdc141 UTSW 2 76,842,099 (GRCm39) missense possibly damaging 0.50
R6865:Ccdc141 UTSW 2 76,859,579 (GRCm39) critical splice donor site probably null
R7014:Ccdc141 UTSW 2 76,962,641 (GRCm39) missense probably damaging 1.00
R7094:Ccdc141 UTSW 2 76,871,797 (GRCm39) missense possibly damaging 0.83
R7195:Ccdc141 UTSW 2 76,879,927 (GRCm39) missense probably benign 0.39
R7300:Ccdc141 UTSW 2 76,845,038 (GRCm39) missense probably benign 0.00
R7654:Ccdc141 UTSW 2 76,872,822 (GRCm39) missense probably benign 0.05
R7834:Ccdc141 UTSW 2 76,889,889 (GRCm39) missense possibly damaging 0.81
R7868:Ccdc141 UTSW 2 76,938,756 (GRCm39) missense probably damaging 0.99
R7986:Ccdc141 UTSW 2 76,845,461 (GRCm39) missense probably benign 0.01
R8059:Ccdc141 UTSW 2 76,875,095 (GRCm39) missense probably damaging 1.00
R8082:Ccdc141 UTSW 2 76,954,588 (GRCm39) missense probably damaging 0.99
R8439:Ccdc141 UTSW 2 76,889,894 (GRCm39) missense possibly damaging 0.82
R8508:Ccdc141 UTSW 2 76,962,588 (GRCm39) missense probably benign 0.01
R8695:Ccdc141 UTSW 2 76,879,963 (GRCm39) missense probably benign 0.03
R8880:Ccdc141 UTSW 2 76,845,556 (GRCm39) missense probably benign 0.28
R8992:Ccdc141 UTSW 2 76,844,739 (GRCm39) missense probably damaging 1.00
R9048:Ccdc141 UTSW 2 76,853,872 (GRCm39) missense probably damaging 1.00
R9260:Ccdc141 UTSW 2 76,844,795 (GRCm39) missense probably damaging 1.00
R9297:Ccdc141 UTSW 2 76,842,028 (GRCm39) missense probably benign 0.34
R9418:Ccdc141 UTSW 2 76,871,766 (GRCm39) missense probably benign 0.05
R9601:Ccdc141 UTSW 2 76,885,073 (GRCm39) missense possibly damaging 0.64
R9628:Ccdc141 UTSW 2 76,844,838 (GRCm39) missense probably damaging 1.00
R9763:Ccdc141 UTSW 2 76,869,919 (GRCm39) missense probably damaging 1.00
Z1088:Ccdc141 UTSW 2 76,958,616 (GRCm39) missense probably benign 0.03
Z1177:Ccdc141 UTSW 2 76,845,493 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AACGCTCTAGTGATCATTTCTATGC -3'
(R):5'- TTGCCCTTAAGCATTGAGAGG -3'

Sequencing Primer
(F):5'- TGCAATCTGTAAATGACTCAGCC -3'
(R):5'- AGAGAACATTAAATGCCTAGATGATG -3'
Posted On 2016-12-20