Incidental Mutation 'R6502:Ccdc141'
ID 519769
Institutional Source Beutler Lab
Gene Symbol Ccdc141
Ensembl Gene ENSMUSG00000044033
Gene Name coiled-coil domain containing 141
Synonyms ENSMUSG00000075261, CAMDI, 2610301F02Rik
MMRRC Submission 044634-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6502 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 76840246-77000980 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77000745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 29 (V29A)
Ref Sequence ENSEMBL: ENSMUSP00000052945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049544] [ENSMUST00000111833] [ENSMUST00000133503] [ENSMUST00000164114]
AlphaFold E9Q8Q6
Predicted Effect noncoding transcript
Transcript: ENSMUST00000028406
Predicted Effect probably damaging
Transcript: ENSMUST00000049544
AA Change: V29A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: V29A

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 damaging
Transcript: ENSMUST00000111833
AA Change: V29A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107464
Gene: ENSMUSG00000044033
AA Change: V29A

DomainStartEndE-ValueType
Blast:SPEC 26 60 4e-16 BLAST
low complexity region 61 75 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131660
Predicted Effect probably damaging
Transcript: ENSMUST00000133503
AA Change: V29A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120312
Gene: ENSMUSG00000044033
AA Change: V29A

DomainStartEndE-ValueType
Blast:SPEC 26 60 4e-17 BLAST
low complexity region 61 76 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000164114
AA Change: V29A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: V29A

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A T 6: 124,333,908 (GRCm39) I24K probably benign Het
Adamts9 A T 6: 92,849,316 (GRCm39) C467S probably damaging Het
Adcy7 G A 8: 89,052,107 (GRCm39) R925Q probably damaging Het
Akap6 G A 12: 53,186,998 (GRCm39) G1471S probably damaging Het
Ap2b1 T C 11: 83,233,505 (GRCm39) V506A probably damaging Het
Apob A G 12: 8,051,814 (GRCm39) I1113M probably damaging Het
Arsg A T 11: 109,408,162 (GRCm39) N105Y probably damaging Het
Blm T A 7: 80,131,223 (GRCm39) Y872F probably damaging Het
Btaf1 A T 19: 36,961,017 (GRCm39) N797Y probably benign Het
Camsap1 T C 2: 25,846,320 (GRCm39) E201G probably damaging Het
Ccdc122 T A 14: 77,279,509 (GRCm39) probably null Homo
Cd244a T A 1: 171,405,447 (GRCm39) D277E probably benign Het
Cfap157 T C 2: 32,670,690 (GRCm39) Y186C probably damaging Het
Ciita C T 16: 10,329,774 (GRCm39) A686V probably damaging Het
Clptm1l T C 13: 73,765,884 (GRCm39) probably null Het
Col16a1 C T 4: 129,949,787 (GRCm39) P50L probably damaging Het
Crisp3 A T 17: 40,546,804 (GRCm39) V38D probably damaging Het
Cyfip2 T C 11: 46,112,173 (GRCm39) E1010G probably damaging Het
Dvl3 G A 16: 20,346,133 (GRCm39) E488K probably damaging Het
Eed C A 7: 89,626,237 (GRCm39) E45D probably benign Het
Eln A G 5: 134,754,628 (GRCm39) probably benign Het
Fah T A 7: 84,244,043 (GRCm39) I239F probably damaging Het
Fbxw5 T A 2: 25,392,448 (GRCm39) Y77N possibly damaging Het
Garnl3 T C 2: 32,896,833 (GRCm39) E602G possibly damaging Het
Gkn3 A T 6: 87,365,786 (GRCm39) M11K probably benign Het
Glt1d1 A G 5: 127,784,045 (GRCm39) Y333C probably damaging Het
Gm10762 A T 2: 128,809,090 (GRCm39) Y86* probably null Het
Gm14496 A G 2: 181,642,386 (GRCm39) M686V probably benign Het
Gse1 T A 8: 121,280,428 (GRCm39) probably null Het
Herc4 C A 10: 63,153,197 (GRCm39) T1035K probably benign Het
Hmcn2 T A 2: 31,272,490 (GRCm39) N1323K probably damaging Het
Hnrnpd T A 5: 100,114,025 (GRCm39) E3D probably damaging Het
Htr7 T A 19: 35,947,010 (GRCm39) I335F probably damaging Het
Ift70b T A 2: 75,767,448 (GRCm39) N435I possibly damaging Het
Itgae A T 11: 73,036,418 (GRCm39) I1119F probably benign Het
Lcn11 T C 2: 25,669,103 (GRCm39) F137S probably benign Het
Lrp3 T G 7: 34,903,413 (GRCm39) D311A possibly damaging Het
Lrrc1 G T 9: 77,349,473 (GRCm39) D364E probably damaging Het
Lrrc37a T A 11: 103,383,005 (GRCm39) E2456V unknown Het
Lrriq1 T C 10: 103,063,045 (GRCm39) Y87C probably damaging Het
Mcc A T 18: 44,601,457 (GRCm39) L449* probably null Het
Mcc A T 18: 44,601,458 (GRCm39) L624M probably damaging Het
Mcm9 T C 10: 53,488,935 (GRCm39) T496A probably damaging Het
Myef2 T A 2: 124,958,602 (GRCm39) D109V probably damaging Het
Myom3 C T 4: 135,489,824 (GRCm39) probably benign Het
Nanos1 G T 19: 60,744,977 (GRCm39) G92W possibly damaging Het
Ncor1 T A 11: 62,272,240 (GRCm39) K84* probably null Het
Neb T A 2: 52,181,094 (GRCm39) D1171V probably benign Het
Notch3 A G 17: 32,377,191 (GRCm39) W267R probably damaging Het
Or5d39 A T 2: 87,980,360 (GRCm39) M1K probably null Het
Or8d1 A C 9: 38,766,933 (GRCm39) T192P probably damaging Het
Per2 A G 1: 91,355,485 (GRCm39) S758P probably benign Het
Pi4k2a A G 19: 42,079,371 (GRCm39) Q144R probably benign Het
Pirb A T 7: 3,720,392 (GRCm39) V327E probably benign Het
Pla2g4a C T 1: 149,748,367 (GRCm39) W272* probably null Het
Plekha4 T A 7: 45,180,000 (GRCm39) M1K probably null Het
Ppt2 A G 17: 34,844,894 (GRCm39) C117R probably damaging Het
Prph A T 15: 98,954,267 (GRCm39) I222F probably damaging Het
Rbm43 T C 2: 51,815,588 (GRCm39) D211G probably damaging Het
Rims2 A G 15: 39,398,251 (GRCm39) D1072G probably benign Het
Rnf123 G T 9: 107,945,531 (GRCm39) Q380K possibly damaging Het
Rnf145 T C 11: 44,415,932 (GRCm39) F49S probably damaging Het
Sall4 A G 2: 168,597,628 (GRCm39) I404T probably damaging Het
Slc25a39 G A 11: 102,295,286 (GRCm39) P228L probably damaging Het
Tbc1d14 T C 5: 36,677,825 (GRCm39) T377A possibly damaging Het
Tbc1d17 A G 7: 44,491,049 (GRCm39) I555T probably benign Het
Tmem131l A T 3: 83,829,715 (GRCm39) S980T probably damaging Het
Tmem14a G T 1: 21,299,662 (GRCm39) L97F possibly damaging Het
Tmem98 T C 11: 80,703,461 (GRCm39) V26A probably benign Het
Tmppe G T 9: 114,234,720 (GRCm39) G340W probably damaging Het
Tsc1 T C 2: 28,555,613 (GRCm39) S237P probably damaging Het
Ubr4 C T 4: 139,171,982 (GRCm39) R2992W probably damaging Het
Ugt2a2 A G 5: 87,608,318 (GRCm39) V673A possibly damaging Het
Vmn2r19 T C 6: 123,293,067 (GRCm39) Y370H possibly damaging Het
Vmn2r20 A G 6: 123,373,342 (GRCm39) F500S possibly damaging Het
Zc3h7b A G 15: 81,653,252 (GRCm39) Y47C probably benign Het
Zdhhc13 A G 7: 48,465,308 (GRCm39) E406G possibly damaging Het
Zfp418 T C 7: 7,185,599 (GRCm39) S521P possibly 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
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'- TTTTACCCTGAAAAGCAGCTGC -3'
(R):5'- ATCAGTGTGAACAGAGGCGC -3'

Sequencing Primer
(F):5'- AAGCAGCTGCCAACTTGTTG -3'
(R):5'- TTCCCTGAAAGAGTCCCGGTAG -3'
Posted On 2018-06-06