Incidental Mutation 'R0001:Cdan1'
ID 32220
Institutional Source Beutler Lab
Gene Symbol Cdan1
Ensembl Gene ENSMUSG00000027284
Gene Name codanin 1
Synonyms 1500015A01Rik, codanin-1, CDA1, CDA-I
MMRRC Submission 038297-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0001 (G1)
Quality Score 172
Status Validated
Chromosome 2
Chromosomal Location 120546635-120561998 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120554232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 939 (R939L)
Ref Sequence ENSEMBL: ENSMUSP00000106329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110700] [ENSMUST00000110701] [ENSMUST00000154193]
AlphaFold Q8CC12
Predicted Effect probably benign
Transcript: ENSMUST00000110700
AA Change: R939L

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: R939L

DomainStartEndE-ValueType
low complexity region 25 42 N/A INTRINSIC
low complexity region 78 99 N/A INTRINSIC
low complexity region 102 151 N/A INTRINSIC
low complexity region 154 180 N/A INTRINSIC
low complexity region 326 337 N/A INTRINSIC
low complexity region 561 576 N/A INTRINSIC
low complexity region 724 735 N/A INTRINSIC
Pfam:Codanin-1_C 786 906 2.4e-48 PFAM
low complexity region 1157 1171 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110701
AA Change: R939L

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: R939L

DomainStartEndE-ValueType
low complexity region 77 98 N/A INTRINSIC
low complexity region 101 150 N/A INTRINSIC
low complexity region 153 179 N/A INTRINSIC
low complexity region 326 337 N/A INTRINSIC
low complexity region 561 576 N/A INTRINSIC
low complexity region 724 735 N/A INTRINSIC
Pfam:Codanin-1_C 789 904 2.4e-41 PFAM
low complexity region 1164 1178 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152692
Predicted Effect probably benign
Transcript: ENSMUST00000154193
SMART Domains Protein: ENSMUSP00000116900
Gene: ENSMUSG00000033705

DomainStartEndE-ValueType
low complexity region 63 77 N/A INTRINSIC
coiled coil region 409 450 N/A INTRINSIC
low complexity region 454 463 N/A INTRINSIC
low complexity region 469 486 N/A INTRINSIC
low complexity region 546 567 N/A INTRINSIC
SCOP:d1jssa_ 588 784 4e-29 SMART
Blast:START 589 785 6e-12 BLAST
Meta Mutation Damage Score 0.1182 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 99% (76/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,288,534 (GRCm39) probably benign Het
A4galt A G 15: 83,112,490 (GRCm39) F98L probably benign Het
Abca4 T G 3: 121,874,660 (GRCm39) probably benign Het
Acacb C T 5: 114,342,894 (GRCm39) probably benign Het
Agbl1 A T 7: 76,069,611 (GRCm39) H367L probably damaging Het
Apoa4 C A 9: 46,154,190 (GRCm39) Q264K probably benign Het
Camsap2 A T 1: 136,210,626 (GRCm39) probably benign Het
Ceacam18 G A 7: 43,286,300 (GRCm39) V58I possibly damaging Het
Ciita A T 16: 10,332,297 (GRCm39) probably benign Het
Clk4 T A 11: 51,159,592 (GRCm39) probably benign Het
Cntnap2 T C 6: 46,507,105 (GRCm39) D215G probably benign Het
Col11a2 T C 17: 34,280,586 (GRCm39) S1218P probably benign Het
Col20a1 T C 2: 180,626,205 (GRCm39) probably benign Het
Ctsb A G 14: 63,373,071 (GRCm39) E76G probably benign Het
Ctu2 T C 8: 123,205,659 (GRCm39) C161R probably benign Het
Dhx29 T C 13: 113,101,090 (GRCm39) L1211P probably damaging Het
Dhx9 G T 1: 153,338,382 (GRCm39) T759K probably damaging Het
Dmxl1 T C 18: 50,021,964 (GRCm39) probably benign Het
Dpysl3 C T 18: 43,491,440 (GRCm39) E226K possibly damaging Het
Eif2d A T 1: 131,095,864 (GRCm39) K453* probably null Het
Epha7 T C 4: 28,961,279 (GRCm39) probably benign Het
Fat3 T C 9: 16,289,169 (GRCm39) D118G probably damaging Het
Fhip2a T A 19: 57,370,188 (GRCm39) H477Q probably benign Het
Foxn4 T A 5: 114,398,931 (GRCm39) Q159L probably damaging Het
Frs2 G T 10: 116,910,781 (GRCm39) H194N possibly damaging Het
Fut8 A T 12: 77,522,089 (GRCm39) *576L probably null Het
Galns T C 8: 123,322,622 (GRCm39) probably benign Het
Gamt G A 10: 80,094,895 (GRCm39) probably benign Het
Gpn1 T A 5: 31,652,961 (GRCm39) probably benign Het
Ipcef1 G T 10: 6,850,600 (GRCm39) H330Q probably damaging Het
Itga4 A C 2: 79,156,931 (GRCm39) Y1024S probably damaging Het
Jak2 A G 19: 29,259,787 (GRCm39) I229V probably benign Het
Katnal1 A G 5: 148,858,085 (GRCm39) S42P probably damaging Het
Kcnu1 A T 8: 26,349,298 (GRCm39) D142V probably damaging Het
Lig3 C T 11: 82,681,417 (GRCm39) R470W probably damaging Het
Mgat4c A G 10: 102,224,817 (GRCm39) S344G probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mipol1 C T 12: 57,507,625 (GRCm39) probably benign Het
Mki67 C T 7: 135,300,901 (GRCm39) V1378M probably damaging Het
Mki67 T A 7: 135,302,748 (GRCm39) D762V probably damaging Het
Mmp9 A G 2: 164,790,303 (GRCm39) T43A probably benign Het
Muc6 T C 7: 141,227,841 (GRCm39) T1316A possibly damaging Het
Naip5 A G 13: 100,351,158 (GRCm39) probably null Het
Naip5 C A 13: 100,359,622 (GRCm39) S538I probably benign Het
Nek3 A T 8: 22,648,628 (GRCm39) probably benign Het
Nlrp1b A G 11: 71,052,585 (GRCm39) S948P probably damaging Het
Nyap2 A T 1: 81,169,822 (GRCm39) H193L probably benign Het
Or52h1 T A 7: 103,828,680 (GRCm39) K312* probably null Het
Or9s23 A G 1: 92,501,183 (GRCm39) K97E possibly damaging Het
Patl2 G A 2: 121,956,191 (GRCm39) probably benign Het
Pcdhb11 A T 18: 37,557,042 (GRCm39) R791W probably benign Het
Pkd1l3 C A 8: 110,355,265 (GRCm39) probably benign Het
Pkn2 A T 3: 142,534,749 (GRCm39) V73D probably benign Het
Pknox1 A T 17: 31,818,610 (GRCm39) H281L probably damaging Het
Polr3a A G 14: 24,502,257 (GRCm39) probably benign Het
Prss38 A G 11: 59,264,006 (GRCm39) probably benign Het
Rad54l2 A G 9: 106,585,416 (GRCm39) F783S probably damaging Het
Rbm5 T C 9: 107,619,623 (GRCm39) R125G probably damaging Het
Rnpep A G 1: 135,200,223 (GRCm39) probably benign Het
Slc1a5 T A 7: 16,527,562 (GRCm39) probably null Het
Slc22a4 G A 11: 53,918,829 (GRCm39) probably benign Het
Spink12 T C 18: 44,240,763 (GRCm39) C50R probably damaging Het
Spmip5 G A 19: 58,777,603 (GRCm39) A61V probably damaging Het
Svep1 G A 4: 58,066,460 (GRCm39) T3208I possibly damaging Het
Tgm5 G T 2: 120,908,127 (GRCm39) D16E probably damaging Het
Tpp2 A G 1: 44,010,886 (GRCm39) N558D probably benign Het
Trappc9 A T 15: 72,835,511 (GRCm39) L507Q probably damaging Het
Trpm3 A T 19: 22,692,695 (GRCm39) Q262L possibly damaging Het
Ttn A G 2: 76,607,316 (GRCm39) probably benign Het
Ttn G A 2: 76,662,433 (GRCm39) probably benign Het
Ubr4 T A 4: 139,179,099 (GRCm39) L3316Q probably damaging Het
Uckl1 T A 2: 181,216,448 (GRCm39) Y136F probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vps39 A G 2: 120,148,534 (GRCm39) V870A probably benign Het
Zdhhc25 A G 15: 88,485,112 (GRCm39) D149G probably benign Het
Zfp648 C T 1: 154,081,032 (GRCm39) T397M probably damaging Het
Zic2 C A 14: 122,716,369 (GRCm39) T435K probably damaging Het
Other mutations in Cdan1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01592:Cdan1 APN 2 120,556,466 (GRCm39) missense probably damaging 1.00
IGL01660:Cdan1 APN 2 120,556,134 (GRCm39) missense possibly damaging 0.63
IGL01930:Cdan1 APN 2 120,557,063 (GRCm39) intron probably benign
IGL02597:Cdan1 APN 2 120,555,720 (GRCm39) missense probably benign 0.08
IGL03025:Cdan1 APN 2 120,561,222 (GRCm39) missense probably damaging 1.00
IGL03130:Cdan1 APN 2 120,558,393 (GRCm39) missense possibly damaging 0.94
IGL03388:Cdan1 APN 2 120,560,992 (GRCm39) utr 3 prime probably benign
FR4737:Cdan1 UTSW 2 120,555,452 (GRCm39) missense probably damaging 0.96
R0650:Cdan1 UTSW 2 120,556,526 (GRCm39) missense probably benign 0.00
R0781:Cdan1 UTSW 2 120,551,083 (GRCm39) missense probably damaging 1.00
R0881:Cdan1 UTSW 2 120,551,466 (GRCm39) missense probably damaging 1.00
R1110:Cdan1 UTSW 2 120,551,083 (GRCm39) missense probably damaging 1.00
R1345:Cdan1 UTSW 2 120,549,620 (GRCm39) critical splice donor site probably null
R1370:Cdan1 UTSW 2 120,549,620 (GRCm39) critical splice donor site probably null
R1503:Cdan1 UTSW 2 120,560,056 (GRCm39) missense probably damaging 1.00
R1579:Cdan1 UTSW 2 120,561,220 (GRCm39) missense probably damaging 0.98
R1664:Cdan1 UTSW 2 120,550,987 (GRCm39) missense probably damaging 0.99
R1749:Cdan1 UTSW 2 120,560,280 (GRCm39) missense probably damaging 0.96
R1765:Cdan1 UTSW 2 120,551,230 (GRCm39) missense probably damaging 1.00
R1806:Cdan1 UTSW 2 120,561,907 (GRCm39) utr 3 prime probably benign
R1856:Cdan1 UTSW 2 120,555,417 (GRCm39) missense probably benign
R2202:Cdan1 UTSW 2 120,551,241 (GRCm39) missense probably damaging 1.00
R2203:Cdan1 UTSW 2 120,551,241 (GRCm39) missense probably damaging 1.00
R2204:Cdan1 UTSW 2 120,551,241 (GRCm39) missense probably damaging 1.00
R3957:Cdan1 UTSW 2 120,561,501 (GRCm39) utr 3 prime probably benign
R3957:Cdan1 UTSW 2 120,556,113 (GRCm39) missense probably damaging 1.00
R4060:Cdan1 UTSW 2 120,556,224 (GRCm39) missense probably benign 0.00
R4324:Cdan1 UTSW 2 120,555,460 (GRCm39) missense probably damaging 0.97
R4379:Cdan1 UTSW 2 120,557,099 (GRCm39) missense probably damaging 1.00
R4611:Cdan1 UTSW 2 120,561,201 (GRCm39) missense probably damaging 0.96
R4695:Cdan1 UTSW 2 120,558,864 (GRCm39) missense probably damaging 1.00
R4866:Cdan1 UTSW 2 120,561,928 (GRCm39) utr 3 prime probably benign
R5183:Cdan1 UTSW 2 120,560,061 (GRCm39) missense probably damaging 0.96
R5347:Cdan1 UTSW 2 120,560,546 (GRCm39) missense possibly damaging 0.95
R5789:Cdan1 UTSW 2 120,560,016 (GRCm39) missense probably benign 0.22
R5958:Cdan1 UTSW 2 120,554,383 (GRCm39) missense possibly damaging 0.80
R6608:Cdan1 UTSW 2 120,557,161 (GRCm39) missense possibly damaging 0.78
R7055:Cdan1 UTSW 2 120,558,342 (GRCm39) missense probably damaging 0.97
R7065:Cdan1 UTSW 2 120,549,402 (GRCm39) missense probably benign 0.00
R7225:Cdan1 UTSW 2 120,555,393 (GRCm39) missense probably benign
R7238:Cdan1 UTSW 2 120,560,783 (GRCm39) missense probably benign
R7316:Cdan1 UTSW 2 120,558,813 (GRCm39) critical splice donor site probably null
R7325:Cdan1 UTSW 2 120,555,185 (GRCm39) missense probably benign 0.25
R7432:Cdan1 UTSW 2 120,553,236 (GRCm39) missense probably damaging 1.00
R7517:Cdan1 UTSW 2 120,558,405 (GRCm39) missense probably damaging 1.00
R7691:Cdan1 UTSW 2 120,560,048 (GRCm39) missense probably damaging 1.00
R8004:Cdan1 UTSW 2 120,561,924 (GRCm39) missense unknown
R8324:Cdan1 UTSW 2 120,557,806 (GRCm39) missense probably benign 0.07
R8465:Cdan1 UTSW 2 120,558,921 (GRCm39) missense possibly damaging 0.93
R8556:Cdan1 UTSW 2 120,553,471 (GRCm39) missense probably damaging 1.00
R8932:Cdan1 UTSW 2 120,561,568 (GRCm39) nonsense probably null
R9462:Cdan1 UTSW 2 120,560,060 (GRCm39) missense possibly damaging 0.87
R9718:Cdan1 UTSW 2 120,554,650 (GRCm39) missense probably damaging 1.00
X0050:Cdan1 UTSW 2 120,554,626 (GRCm39) missense probably benign 0.29
Z1088:Cdan1 UTSW 2 120,560,817 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCTGTAGGAAGGAGAAACCCACC -3'
(R):5'- TGGAGTAAGAACCCTAGTCTCAGCC -3'

Sequencing Primer
(F):5'- AGCCTTACATTACAGACTTCCAATTC -3'
(R):5'- CTTTAACCTGTTGCCAAACTAAGC -3'
Posted On 2013-05-09