Incidental Mutation 'R9260:Ccdc141'
ID 702149
Institutional Source Beutler Lab
Gene Symbol Ccdc141
Ensembl Gene ENSMUSG00000044033
Gene Name coiled-coil domain containing 141
Synonyms ENSMUSG00000075261, CAMDI, 2610301F02Rik
MMRRC Submission 068962-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9260 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 76840246-77000980 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 76844795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 1424 (G1424V)
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: G1424V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052945
Gene: ENSMUSG00000044033
AA Change: G1424V

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: ENSMUST00000164114
AA Change: G1424V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128736
Gene: ENSMUSG00000044033
AA Change: G1424V

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 probably benign
Transcript: ENSMUST00000179868
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (77/77)
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
Atp1a4 A G 1: 172,074,359 (GRCm39) I298T probably damaging Het
Bmper T A 9: 23,318,016 (GRCm39) L545H probably benign Het
Cacnb3 A G 15: 98,537,438 (GRCm39) S39G probably benign Het
Casr T C 16: 36,330,326 (GRCm39) K336R probably benign Het
Cd101 A T 3: 100,920,599 (GRCm39) D437E probably benign Het
Chadl A G 15: 81,578,058 (GRCm39) S524P probably damaging Het
Cimap2 T C 4: 106,472,634 (GRCm39) K84E probably benign Het
Clec4a4 C T 6: 123,000,895 (GRCm39) R203* probably null Het
Cntnap4 A G 8: 113,500,276 (GRCm39) I523V probably benign Het
Cpb1 T A 3: 20,316,638 (GRCm39) Y304F probably damaging Het
Dnajc14 T G 10: 128,642,766 (GRCm39) S229R possibly damaging Het
Dnajc15 A G 14: 78,081,839 (GRCm39) V101A possibly damaging Het
Dpyd A T 3: 119,108,447 (GRCm39) Y830F possibly damaging Het
Ehbp1l1 A G 19: 5,769,278 (GRCm39) V675A probably benign Het
F10 G A 8: 13,105,638 (GRCm39) C413Y probably damaging Het
Fam47e C T 5: 92,735,384 (GRCm39) L206F probably damaging Het
Fpr1 A T 17: 18,098,006 (GRCm39) probably benign Het
Frem2 G C 3: 53,560,204 (GRCm39) S1434R probably damaging Het
Gli3 G T 13: 15,899,675 (GRCm39) V1021F probably damaging Het
Gm7168 A T 17: 14,169,488 (GRCm39) N285I probably benign Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Herc1 T A 9: 66,325,691 (GRCm39) C1388* probably null Het
Hikeshi T C 7: 89,579,776 (GRCm39) probably benign Het
Hjv T A 3: 96,435,579 (GRCm39) I279N probably damaging Het
Igfn1 T C 1: 135,907,694 (GRCm39) E217G probably benign Het
Ighv1-59 T C 12: 115,298,737 (GRCm39) T106A probably benign Het
Igkv6-23 T A 6: 70,237,457 (GRCm39) I95F probably damaging Het
Il31ra A T 13: 112,668,202 (GRCm39) S456T probably damaging Het
Ints3 T C 3: 90,308,468 (GRCm39) D610G probably damaging Het
Iqcg G A 16: 32,855,973 (GRCm39) Q201* probably null Het
Kat14 T A 2: 144,235,441 (GRCm39) D300E probably benign Het
Kbtbd13 T C 9: 65,298,852 (GRCm39) H28R possibly damaging Het
Kcnh2 A T 5: 24,528,069 (GRCm39) D866E probably damaging Het
Kdm4b A G 17: 56,701,775 (GRCm39) T595A probably benign Het
Lct C T 1: 128,227,704 (GRCm39) W1263* probably null Het
Micall2 T A 5: 139,695,453 (GRCm39) M905L unknown Het
Mkrn1 T C 6: 39,382,530 (GRCm39) probably benign Het
Mobp A G 9: 119,997,572 (GRCm39) T164A unknown Het
Mtrr T C 13: 68,728,674 (GRCm39) E42G possibly damaging Het
Muc5b T A 7: 141,405,255 (GRCm39) W888R unknown Het
Myh7 G A 14: 55,224,842 (GRCm39) A575V probably damaging Het
Nbea A C 3: 55,891,233 (GRCm39) L1612W possibly damaging Het
Notch3 A G 17: 32,362,216 (GRCm39) probably null Het
Nsun4 T C 4: 115,902,007 (GRCm39) Y153C probably damaging Het
Nup210 A G 6: 91,039,785 (GRCm39) I690T probably benign Het
Nyap2 T A 1: 81,064,835 (GRCm39) probably benign Het
Oaz1 T A 10: 80,662,603 (GRCm39) S4T possibly damaging Het
Optn C T 2: 5,045,076 (GRCm39) C222Y probably benign Het
Or11i1 A G 3: 106,729,510 (GRCm39) S122P probably damaging Het
Or4f17-ps1 T A 2: 111,358,271 (GRCm39) V222E Het
Or5ac19 T C 16: 59,089,677 (GRCm39) M118V probably damaging Het
Or6c76b G A 10: 129,692,458 (GRCm39) V24M probably benign Het
Or7a40 A T 16: 16,491,337 (GRCm39) C169* probably null Het
Osmr T A 15: 6,882,033 (GRCm39) H37L probably benign Het
Pccb G T 9: 100,877,643 (GRCm39) P287Q probably benign Het
Pclo T A 5: 14,764,287 (GRCm39) D4253E unknown Het
Pdcd6ip A T 9: 113,526,572 (GRCm39) probably null Het
Pde9a T C 17: 31,678,137 (GRCm39) probably null Het
Pdk2 C A 11: 94,930,260 (GRCm39) V59F probably damaging Het
Pgm1 T A 4: 99,827,186 (GRCm39) V362E probably damaging Het
Pmepa1 CCGGCGGCGGCGGCGGCGG CCGGCGGCGGCGGCGG 2: 173,117,943 (GRCm39) probably benign Het
Pold4 T C 19: 4,282,904 (GRCm39) F97S possibly damaging Het
Ppp5c C T 7: 16,740,886 (GRCm39) V361I probably benign Het
Prrt1 A G 17: 34,850,120 (GRCm39) Y178C probably damaging Het
Psmb11 A T 14: 54,863,033 (GRCm39) I84F probably damaging Het
Smg7 A G 1: 152,737,549 (GRCm39) S131P probably damaging Het
Snrnp200 T A 2: 127,078,428 (GRCm39) L1728Q probably damaging Het
Stbd1 A T 5: 92,753,456 (GRCm39) E315D probably damaging Het
Tcaf1 C T 6: 42,663,554 (GRCm39) G109R possibly damaging Het
Thap12 C T 7: 98,356,280 (GRCm39) R56* probably null Het
Ttn T C 2: 76,645,919 (GRCm39) E12848G probably benign Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Uqcrfs1 G A 13: 30,725,108 (GRCm39) A144V probably damaging Het
Usp13 T A 3: 32,955,909 (GRCm39) probably benign Het
Wdr19 T A 5: 65,363,789 (GRCm39) D67E possibly damaging Het
Zfp998 A T 13: 66,579,375 (GRCm39) H369Q unknown Het
Zkscan3 A T 13: 21,578,210 (GRCm39) W226R probably damaging Het
Zmym5 A C 14: 57,041,641 (GRCm39) F154C 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
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
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'- GACCAAAGCATGCAGGGTTG -3'
(R):5'- GCTGATTCTAACGTCACTAAAACCC -3'

Sequencing Primer
(F):5'- CAAAGCATGCAGGGTTGAGTGTC -3'
(R):5'- CAAGACAGGCTGCATGCTG -3'
Posted On 2022-03-25