Incidental Mutation 'IGL03025:Cdan1'
ID 408118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdan1
Ensembl Gene ENSMUSG00000027284
Gene Name codanin 1
Synonyms 1500015A01Rik, codanin-1, CDA1, CDA-I
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03025
Quality Score
Status
Chromosome 2
Chromosomal Location 120546635-120561998 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120561222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 181 (E181G)
Ref Sequence ENSEMBL: ENSMUSP00000106329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028740] [ENSMUST00000057135] [ENSMUST00000085840] [ENSMUST00000110700] [ENSMUST00000110701] [ENSMUST00000154193]
AlphaFold Q8CC12
Predicted Effect probably benign
Transcript: ENSMUST00000028740
SMART Domains Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100

DomainStartEndE-ValueType
Pfam:Pkinase 90 347 7e-31 PFAM
Pfam:Pkinase_Tyr 90 348 8.2e-19 PFAM
low complexity region 369 383 N/A INTRINSIC
low complexity region 1143 1156 N/A INTRINSIC
low complexity region 1205 1242 N/A INTRINSIC
low complexity region 1254 1271 N/A INTRINSIC
low complexity region 1285 1309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000057135
SMART Domains Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100

DomainStartEndE-ValueType
Pfam:Pkinase 21 274 1.2e-32 PFAM
Pfam:Pkinase_Tyr 21 280 3.8e-19 PFAM
low complexity region 300 314 N/A INTRINSIC
low complexity region 1074 1087 N/A INTRINSIC
low complexity region 1136 1173 N/A INTRINSIC
low complexity region 1185 1202 N/A INTRINSIC
low complexity region 1216 1240 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085840
SMART Domains Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100

DomainStartEndE-ValueType
Pfam:Pkinase 21 274 1.2e-32 PFAM
Pfam:Pkinase_Tyr 21 280 3.8e-19 PFAM
low complexity region 300 314 N/A INTRINSIC
low complexity region 1074 1087 N/A INTRINSIC
low complexity region 1136 1173 N/A INTRINSIC
low complexity region 1185 1202 N/A INTRINSIC
low complexity region 1216 1240 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110700
AA Change: E182G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: E182G

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 damaging
Transcript: ENSMUST00000110701
AA Change: E181G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: E181G

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: ENSMUST00000126133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136725
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
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,315,405 (GRCm39) N91S possibly damaging Het
Adora1 T C 1: 134,130,807 (GRCm39) Y288C probably damaging Het
Avil A T 10: 126,849,446 (GRCm39) T581S probably benign Het
Cacna1h C T 17: 25,651,868 (GRCm39) W92* probably null Het
Calr3 A C 8: 73,188,735 (GRCm39) probably benign Het
Clca4a T C 3: 144,663,079 (GRCm39) N590S probably benign Het
Cnga1 T A 5: 72,762,756 (GRCm39) I253F probably benign Het
Cngb3 T G 4: 19,283,498 (GRCm39) probably benign Het
Cstf3 T A 2: 104,439,276 (GRCm39) Y30N possibly damaging Het
Cyp2a12 T A 7: 26,730,631 (GRCm39) S199T probably benign Het
Dlg1 A G 16: 31,624,545 (GRCm39) I412V probably benign Het
Fasn C T 11: 120,708,974 (GRCm39) V570M probably benign Het
Fhit A G 14: 10,421,534 (GRCm38) S85P probably damaging Het
Frmd5 T A 2: 121,383,825 (GRCm39) M369L probably benign Het
Ftdc2 A C 16: 58,458,076 (GRCm39) I75S probably damaging Het
Gatb T C 3: 85,483,181 (GRCm39) W63R probably damaging Het
Gga1 G T 15: 78,772,382 (GRCm39) L227F probably damaging Het
Itgb1 A G 8: 129,449,065 (GRCm39) N557S possibly damaging Het
Ltf T C 9: 110,854,169 (GRCm39) V328A possibly damaging Het
Nefh T C 11: 4,895,289 (GRCm39) E300G probably damaging Het
Nrip1 A G 16: 76,091,353 (GRCm39) V68A probably benign Het
Or1m1 T C 9: 18,666,665 (GRCm39) N89D probably benign Het
Pcdhb13 T G 18: 37,575,817 (GRCm39) V65G probably damaging Het
Pcdhb4 A T 18: 37,443,030 (GRCm39) Y780F possibly damaging Het
Plcd3 C T 11: 102,965,724 (GRCm39) E503K probably benign Het
Rbm6 T A 9: 107,651,918 (GRCm39) D903V possibly damaging Het
Rnf133 A G 6: 23,649,134 (GRCm39) M265T probably benign Het
Sbf1 T C 15: 89,173,848 (GRCm39) T1775A probably damaging Het
Serpina1f T A 12: 103,659,805 (GRCm39) D159V probably damaging Het
Skap1 C A 11: 96,593,508 (GRCm39) S118R probably damaging Het
Slc17a9 C A 2: 180,381,609 (GRCm39) probably null Het
Slc30a5 A G 13: 100,950,395 (GRCm39) S231P probably damaging Het
Stac2 A G 11: 97,934,548 (GRCm39) F52S probably damaging Het
Them7 T C 2: 105,128,150 (GRCm39) S44P probably benign Het
Tnmd A G X: 132,766,162 (GRCm39) probably benign Het
Trdmt1 A T 2: 13,528,246 (GRCm39) I105N probably damaging Het
Trpc1 C T 9: 95,592,313 (GRCm39) G554E probably damaging Het
Vmn1r37 A G 6: 66,708,740 (GRCm39) Y85C probably benign Het
Zim1 T C 7: 6,685,058 (GRCm39) T131A probably benign 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
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
R0001:Cdan1 UTSW 2 120,554,232 (GRCm39) missense probably benign 0.41
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
Posted On 2016-08-02