Incidental Mutation 'R7868:Ccdc141'
ID 607892
Institutional Source Beutler Lab
Gene Symbol Ccdc141
Ensembl Gene ENSMUSG00000044033
Gene Name coiled-coil domain containing 141
Synonyms ENSMUSG00000075261, CAMDI, 2610301F02Rik
MMRRC Submission 045920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7868 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 76840246-77000980 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76938756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 283 (D283G)
Ref Sequence ENSEMBL: ENSMUSP00000052945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049544] [ENSMUST00000164114]
AlphaFold E9Q8Q6
Predicted Effect probably damaging
Transcript: ENSMUST00000049544
AA Change: D283G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: D283G

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 possibly damaging
Transcript: ENSMUST00000164114
AA Change: D283G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: D283G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,478,257 (GRCm39) probably null Het
Acacb A G 5: 114,386,288 (GRCm39) E2274G probably benign Het
Adam7 A G 14: 68,770,090 (GRCm39) I21T possibly damaging Het
Aldh3b3 C T 19: 4,018,492 (GRCm39) R57* probably null Het
Arhgap22 T C 14: 33,086,473 (GRCm39) probably benign Het
B4galt5 G T 2: 167,143,340 (GRCm39) Y361* probably null Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Bsn G T 9: 107,992,098 (GRCm39) A1218D possibly damaging Het
Ccdc33 T A 9: 57,976,374 (GRCm39) I547F probably benign Het
Chdh A G 14: 29,753,288 (GRCm39) N66D probably benign Het
Ckap2l T A 2: 129,127,209 (GRCm39) Q323L probably damaging Het
Cpvl T A 6: 53,951,745 (GRCm39) I13F possibly damaging Het
Creb3l2 G A 6: 37,312,804 (GRCm39) P410L probably damaging Het
Dna2 T C 10: 62,805,643 (GRCm39) V960A probably benign Het
Dop1a G A 9: 86,384,037 (GRCm39) probably null Het
Dpysl5 A T 5: 30,902,760 (GRCm39) D64V probably damaging Het
Dysf A G 6: 84,091,081 (GRCm39) Q1041R probably benign Het
Efcab7 T C 4: 99,746,154 (GRCm39) V242A probably benign Het
Ehbp1 G A 11: 22,096,542 (GRCm39) R341* probably null Het
Eif1ad8 G T 12: 87,563,388 (GRCm39) probably benign Het
Fbxo32 A T 15: 58,077,986 (GRCm39) W8R probably damaging Het
Fpgs T C 2: 32,573,472 (GRCm39) N455D probably damaging Het
Fsip1 G A 2: 117,966,967 (GRCm39) Q453* probably null Het
Gm8257 T A 14: 44,894,754 (GRCm39) E12V probably damaging Het
Kdm3a A T 6: 71,572,473 (GRCm39) D1029E probably benign Het
Lipo4 T G 19: 33,488,968 (GRCm39) Q205P possibly damaging Het
Lpar6 A T 14: 73,476,435 (GRCm39) N132I probably damaging Het
Lrp1b C T 2: 41,339,246 (GRCm39) G866S Het
Man2c1 T C 9: 57,045,270 (GRCm39) F460L probably damaging Het
Map3k7cl T C 16: 87,378,100 (GRCm39) V72A probably damaging Het
Map4k1 A T 7: 28,699,387 (GRCm39) probably null Het
Matn1 A G 4: 130,682,311 (GRCm39) E496G probably damaging Het
Mfsd2a A T 4: 122,850,648 (GRCm39) V76E possibly damaging Het
Mmut C T 17: 41,257,934 (GRCm39) R367C probably damaging Het
Mtpap A G 18: 4,380,673 (GRCm39) E117G probably damaging Het
Muc17 T A 5: 137,175,625 (GRCm39) N15I Het
Ndufa10 A G 1: 92,388,169 (GRCm39) Y275H probably damaging Het
Nlrc4 A T 17: 74,755,047 (GRCm39) H56Q possibly damaging Het
Nrde2 G A 12: 100,097,446 (GRCm39) R785C possibly damaging Het
Nsun4 C A 4: 115,891,329 (GRCm39) C350F probably benign Het
Or10x1 A G 1: 174,196,551 (GRCm39) T23A probably benign Het
Or51f23b A G 7: 102,402,812 (GRCm39) L108P possibly damaging Het
Or8g2 T A 9: 39,821,282 (GRCm39) F61Y probably benign Het
Or9s14 G A 1: 92,536,237 (GRCm39) G226D possibly damaging Het
Pdcd7 T A 9: 65,254,261 (GRCm39) C280S probably damaging Het
Peak1 G T 9: 56,167,754 (GRCm39) T58K probably damaging Het
Phactr2 T C 10: 13,108,353 (GRCm39) E573G probably damaging Het
Pramel27 A G 4: 143,578,154 (GRCm39) H138R possibly damaging Het
Ptprz1 G A 6: 23,000,963 (GRCm39) A1018T not run Het
Ralgapa1 G T 12: 55,659,423 (GRCm39) D2032E probably benign Het
Rapgef4 T A 2: 72,031,481 (GRCm39) N488K probably benign Het
Slc1a2 A G 2: 102,591,530 (GRCm39) D420G probably benign Het
Smyd5 T A 6: 85,421,297 (GRCm39) L337Q probably damaging Het
Tenm4 G A 7: 96,555,587 (GRCm39) R2764H possibly damaging Het
Tex35 A T 1: 156,926,908 (GRCm39) Y195* probably null Het
Tln2 T C 9: 67,255,508 (GRCm39) K690E probably damaging Het
Trpc4 A G 3: 54,209,707 (GRCm39) T691A probably benign Het
Tsr1 T A 11: 74,791,158 (GRCm39) F246I possibly damaging Het
Ttn ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG 2: 76,746,150 (GRCm39) probably benign Het
Ubr4 A T 4: 139,187,344 (GRCm39) Y669F unknown Het
Uox A C 3: 146,316,029 (GRCm39) D12A probably benign Het
Wdr17 A G 8: 55,149,302 (GRCm39) probably null 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
R5837:Ccdc141 UTSW 2 76,938,781 (GRCm39) missense possibly damaging 0.56
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
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'- TAGCAGTTAATGGGCAGTGGC -3'
(R):5'- TGCCCTTAAGCATTGAGAGG -3'

Sequencing Primer
(F):5'- TAATGGGCAGTGGCGTTCCC -3'
(R):5'- CGTATGTAGAAAGAGATCGAATTGC -3'
Posted On 2019-12-20