Incidental Mutation 'R8508:Ccdc141'
ID 655680
Institutional Source Beutler Lab
Gene Symbol Ccdc141
Ensembl Gene ENSMUSG00000044033
Gene Name coiled-coil domain containing 141
Synonyms ENSMUSG00000075261, CAMDI, 2610301F02Rik
MMRRC Submission 067844-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8508 (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 A at 76962588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 119 (M119L)
Ref Sequence ENSEMBL: ENSMUSP00000052945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049544] [ENSMUST00000133503] [ENSMUST00000164114]
AlphaFold E9Q8Q6
Predicted Effect probably benign
Transcript: ENSMUST00000049544
AA Change: M119L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: M119L

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 probably benign
Transcript: ENSMUST00000133503
SMART Domains Protein: ENSMUSP00000120312
Gene: ENSMUSG00000044033

DomainStartEndE-ValueType
Blast:SPEC 26 60 4e-17 BLAST
low complexity region 61 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164114
AA Change: M119L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: M119L

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: 99.5%
  • 20x: 98.0%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T G 16: 90,852,500 (GRCm39) Y212S probably damaging Het
Angpt1 T C 15: 42,375,795 (GRCm39) N154D probably damaging Het
Angpt2 G A 8: 18,791,135 (GRCm39) R54* probably null Het
Ankrd27 T A 7: 35,301,051 (GRCm39) L117* probably null Het
Arhgap21 C T 2: 20,858,991 (GRCm39) M1234I probably benign Het
Arhgef33 A G 17: 80,674,764 (GRCm39) E387G probably damaging Het
Atp13a4 T A 16: 29,273,587 (GRCm39) K444* probably null Het
Atp6v1a G A 16: 43,922,225 (GRCm39) R338C probably damaging Het
Canx T C 11: 50,202,474 (GRCm39) D44G possibly damaging Het
Ckmt1 A C 2: 121,193,172 (GRCm39) Q299P possibly damaging Het
Dhx16 T C 17: 36,196,812 (GRCm39) S601P probably damaging Het
Dna2 A C 10: 62,786,673 (GRCm39) R140S probably damaging Het
Dock1 A G 7: 134,384,138 (GRCm39) T670A probably benign Het
Eif1ad10 T G 12: 88,216,455 (GRCm39) E139A unknown Het
Eogt A G 6: 97,120,959 (GRCm39) S85P possibly damaging Het
Fbf1 A T 11: 116,056,707 (GRCm39) M1K probably null Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Flnb G A 14: 7,950,394 (GRCm38) V2571I probably damaging Het
Gm43518 A G 5: 124,076,322 (GRCm39) E123G unknown Het
Gpatch2 A G 1: 187,036,552 (GRCm39) N374S probably benign Het
Hey1 G C 3: 8,729,836 (GRCm39) A207G probably benign Het
Hoxa11 T C 6: 52,222,782 (GRCm39) probably benign Het
Hydin G A 8: 111,308,650 (GRCm39) V3979I probably benign Het
Ighe C T 12: 113,235,413 (GRCm39) W277* probably null Het
Kmt2c G T 5: 25,519,120 (GRCm39) T2330K probably benign Het
Krt6a T A 15: 101,601,170 (GRCm39) K261M probably damaging Het
Lats2 A C 14: 57,960,162 (GRCm39) S161A probably benign Het
Med13l T A 5: 118,892,386 (GRCm39) D1936E probably benign Het
Mipol1 T C 12: 57,352,874 (GRCm39) V71A possibly damaging Het
Mphosph8 A T 14: 56,914,003 (GRCm39) K415* probably null Het
Npepps A G 11: 97,135,252 (GRCm39) probably null Het
Ntn4 A T 10: 93,576,966 (GRCm39) N545Y possibly damaging Het
Or11g1 A C 14: 50,651,132 (GRCm39) M44L probably benign Het
Or1n1b A G 2: 36,780,366 (GRCm39) S165P probably damaging Het
Or2m12 T C 16: 19,105,451 (GRCm39) D14G probably benign Het
Or9i2 A T 19: 13,815,766 (GRCm39) M257K possibly damaging Het
Osbpl2 T A 2: 179,797,136 (GRCm39) V358E possibly damaging Het
Pdcd11 C A 19: 47,108,245 (GRCm39) P1204Q probably damaging Het
Pnliprp2 A C 19: 58,751,806 (GRCm39) S184R probably damaging Het
Ppm1g G T 5: 31,361,872 (GRCm39) R373S probably damaging Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Rps18-ps5 A G 13: 28,441,694 (GRCm39) I26V probably benign Het
Setd5 T C 6: 113,098,048 (GRCm39) S696P probably damaging Het
Sgip1 A G 4: 102,772,268 (GRCm39) Q219R probably benign Het
Slc1a2 T C 2: 102,566,430 (GRCm39) probably null Het
Slc22a12 T C 19: 6,592,467 (GRCm39) T106A probably benign Het
Slc22a14 A G 9: 119,009,651 (GRCm39) L148P probably damaging Het
Slc2a9 A T 5: 38,539,421 (GRCm39) F375I probably damaging Het
Sorbs3 A T 14: 70,440,396 (GRCm39) D117E probably benign Het
Spata31d1e A G 13: 59,891,412 (GRCm39) L136P probably benign Het
Sphkap G A 1: 83,254,221 (GRCm39) T1176I probably damaging Het
Supt16 A T 14: 52,419,046 (GRCm39) V193D probably damaging Het
Sytl3 A G 17: 6,995,690 (GRCm39) T362A probably damaging Het
Tctn1 T A 5: 122,384,674 (GRCm39) Q410L probably benign Het
Trbc2 T C 6: 41,524,711 (GRCm39) Y133H Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Vmn2r120 A G 17: 57,832,843 (GRCm39) V112A probably benign Het
Zfp354b A T 11: 50,814,297 (GRCm39) S209R probably benign Het
Zfp362 T C 4: 128,668,399 (GRCm39) H391R probably damaging 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
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
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'- CACATGAGCATTCCCCAATAATTG -3'
(R):5'- TACACTGGATGGCAACTGATTTAC -3'

Sequencing Primer
(F):5'- TCCCCAATAATTGTATAGTGAGAGC -3'
(R):5'- CTGGATGGCAACTGATTTACATTTTC -3'
Posted On 2020-10-20