Incidental Mutation 'R8880:Ccdc141'
ID 676813
Institutional Source Beutler Lab
Gene Symbol Ccdc141
Ensembl Gene ENSMUSG00000044033
Gene Name coiled-coil domain containing 141
Synonyms ENSMUSG00000075261, CAMDI, 2610301F02Rik
MMRRC Submission 068748-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8880 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 76840246-77000980 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76845556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1170 (N1170K)
Ref Sequence ENSEMBL: ENSMUSP00000052945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049544] [ENSMUST00000164114]
AlphaFold E9Q8Q6
Predicted Effect probably benign
Transcript: ENSMUST00000049544
AA Change: N1170K

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: N1170K

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: N1170K

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: N1170K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (82/82)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik C T 14: 32,382,837 (GRCm39) V1043I probably benign Het
5031439G07Rik T A 15: 84,839,867 (GRCm39) I176F possibly damaging Het
Adam6b T A 12: 113,454,764 (GRCm39) M527K probably benign Het
Atp10b C T 11: 43,106,811 (GRCm39) T615I probably benign Het
Atxn2 A G 5: 121,948,973 (GRCm39) T1117A probably benign Het
AU021092 A T 16: 5,032,585 (GRCm39) probably benign Het
Bcam C T 7: 19,492,671 (GRCm39) V505M probably damaging Het
Bco2 A T 9: 50,461,962 (GRCm39) L14Q probably damaging Het
Caps2 T G 10: 112,030,824 (GRCm39) probably benign Het
Cblb T C 16: 51,986,368 (GRCm39) V537A probably benign Het
Ccdc154 T G 17: 25,389,129 (GRCm39) D442E probably benign Het
Col24a1 A G 3: 145,019,798 (GRCm39) I60V probably null Het
Crb1 A T 1: 139,164,886 (GRCm39) N1140K probably benign Het
Ddhd1 G A 14: 45,846,430 (GRCm39) P621S probably benign Het
Ddx46 A T 13: 55,814,033 (GRCm39) N663I probably benign Het
Dgki C T 6: 37,011,652 (GRCm39) probably benign Het
Disp2 T C 2: 118,621,239 (GRCm39) F657S probably damaging Het
Dnajc2 T C 5: 21,973,670 (GRCm39) E262G probably damaging Het
Dvl2 T A 11: 69,898,761 (GRCm39) L408Q possibly damaging Het
Egflam T C 15: 7,267,249 (GRCm39) D712G probably damaging Het
Entpd7 A G 19: 43,692,846 (GRCm39) probably benign Het
Epb41 A T 4: 131,695,104 (GRCm39) W28R Het
Fabp9 C T 3: 10,262,231 (GRCm39) probably benign Het
Fkbp15 T A 4: 62,232,602 (GRCm39) M657L probably benign Het
Gfy A C 7: 44,827,784 (GRCm39) L104R possibly damaging Het
Gm4884 A T 7: 40,693,911 (GRCm39) I627F probably damaging Het
Gm9195 A T 14: 72,691,320 (GRCm39) S1643T unknown Het
Gpsm2 C T 3: 108,610,335 (GRCm39) A42T possibly damaging Het
Gvin2 T C 7: 105,551,120 (GRCm39) K644R probably benign Het
Gys2 T C 6: 142,402,113 (GRCm39) Y242C probably damaging Het
Hbs1l A G 10: 21,185,868 (GRCm39) N430S probably damaging Het
Idh3b A T 2: 130,126,004 (GRCm39) probably benign Het
Igdcc3 C T 9: 65,088,550 (GRCm39) A384V probably benign Het
Ighv3-4 C T 12: 114,217,535 (GRCm39) D19N possibly damaging Het
Igkv19-93 G T 6: 68,713,494 (GRCm39) A45E probably damaging Het
Il10ra G A 9: 45,175,631 (GRCm39) T230M probably damaging Het
Kalrn A G 16: 34,038,305 (GRCm39) V1009A probably damaging Het
Kcnma1 G T 14: 23,417,718 (GRCm39) A837D probably damaging Het
Kif7 T A 7: 79,348,650 (GRCm39) R1231S probably benign Het
Klhdc1 A G 12: 69,298,817 (GRCm39) D134G possibly damaging Het
Klk14 T C 7: 43,343,459 (GRCm39) V97A probably damaging Het
Lamb3 G A 1: 193,003,363 (GRCm39) V101M possibly damaging Het
Lrrc7 C T 3: 157,867,381 (GRCm39) E787K probably damaging Het
Mep1a A G 17: 43,808,808 (GRCm39) I94T possibly damaging Het
Mtrex T A 13: 113,051,034 (GRCm39) K180N probably benign Het
Ncr1 C T 7: 4,341,336 (GRCm39) S109L probably benign Het
Nell2 A T 15: 95,129,329 (GRCm39) M678K probably damaging Het
Or12j5 C A 7: 140,084,172 (GRCm39) A67S probably benign Het
Or14c42-ps1 G A 7: 86,211,549 (GRCm39) C203Y unknown Het
Or2m13 A T 16: 19,226,396 (GRCm39) Y123* probably null Het
Or8g19 T A 9: 39,055,899 (GRCm39) F168I probably damaging Het
Pnpla1 A C 17: 29,098,438 (GRCm39) Y248S probably damaging Het
Pramel27 T C 4: 143,573,140 (GRCm39) probably null Het
Prdm10 T C 9: 31,264,742 (GRCm39) F726L probably damaging Het
Prdm16 T C 4: 154,613,370 (GRCm39) N19S probably damaging Het
Prss44 A G 9: 110,643,263 (GRCm39) R53G probably benign Het
Rasgrp1 C T 2: 117,115,425 (GRCm39) R721Q probably benign Het
Rassf1 A T 9: 107,434,740 (GRCm39) N149I probably damaging Het
Rbp3 A C 14: 33,678,796 (GRCm39) T915P probably benign Het
Reg3g A T 6: 78,444,788 (GRCm39) D63E probably benign Het
Relch T C 1: 105,592,220 (GRCm39) Y130H probably damaging Het
Rgs3 C A 4: 62,543,373 (GRCm39) T236K probably damaging Het
Rin2 T C 2: 145,690,772 (GRCm39) F147L probably damaging Het
Slc17a1 T C 13: 24,062,732 (GRCm39) I266T probably benign Het
Slc34a3 A T 2: 25,119,267 (GRCm39) N534K probably benign Het
Smc2 A T 4: 52,462,856 (GRCm39) E615D probably benign Het
Snx16 A C 3: 10,484,193 (GRCm39) D343E probably benign Het
St18 T A 1: 6,865,619 (GRCm39) Y32* probably null Het
Svep1 C T 4: 58,064,204 (GRCm39) V3260I possibly damaging Het
Synm C T 7: 67,386,456 (GRCm39) R402H possibly damaging Het
Tacc2 A T 7: 130,318,564 (GRCm39) E67V possibly damaging Het
Tarbp1 G T 8: 127,198,044 (GRCm39) N302K probably damaging Het
Tenm2 A G 11: 35,942,788 (GRCm39) S1294P probably damaging Het
Ttk T C 9: 83,751,304 (GRCm39) S794P probably damaging Het
Ulk1 G A 5: 110,934,288 (GRCm39) A999V probably damaging Het
Upf2 A G 2: 6,030,983 (GRCm39) I808V unknown Het
Ush2a A G 1: 188,460,733 (GRCm39) T2665A probably benign Het
Usp8 A G 2: 126,590,229 (GRCm39) K672E probably damaging Het
Vmn2r105 T A 17: 20,429,229 (GRCm39) I616F probably damaging Het
Vps33a T C 5: 123,707,506 (GRCm39) M154V probably damaging Het
Wdfy4 A C 14: 32,795,492 (GRCm39) Y2083* probably null Het
Zc3hav1 A G 6: 38,288,212 (GRCm39) F875L probably benign Het
Zfp979 T C 4: 147,697,836 (GRCm39) N291S probably benign Het
Zp2 T A 7: 119,742,835 (GRCm39) Y99F 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
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
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'- GCAGAGGAGCTGGTAAGTTC -3'
(R):5'- ATACACATCTGGAGTTCAGGGAC -3'

Sequencing Primer
(F):5'- CAGAGGAGCTGGTAAGTTCTTCTACC -3'
(R):5'- CATCTGGAGTTCAGGGACTCTGC -3'
Posted On 2021-07-15