Incidental Mutation 'R1579:Cdan1'
ID 171265
Institutional Source Beutler Lab
Gene Symbol Cdan1
Ensembl Gene ENSMUSG00000027284
Gene Name codanin 1
Synonyms 1500015A01Rik, codanin-1, CDA1, CDA-I
MMRRC Submission 039616-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1579 (G1)
Quality Score 203
Status Not validated
Chromosome 2
Chromosomal Location 120546635-120561998 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120561220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 183 (F183L)
Ref Sequence ENSEMBL: ENSMUSP00000106328 (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: F183L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: F183L

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: F182L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: F182L

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: ENSMUST00000129384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150860
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
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T C 16: 3,724,039 (GRCm39) R162G probably benign Het
Adamtsl4 T A 3: 95,592,807 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,711,898 (GRCm39) L306H probably damaging Het
Aknad1 T A 3: 108,659,452 (GRCm39) Y155* probably null Het
Aldh6a1 C T 12: 84,488,622 (GRCm39) R88H possibly damaging Het
Apc2 G C 10: 80,147,179 (GRCm39) K715N probably damaging Het
Arhgap45 G A 10: 79,864,811 (GRCm39) V798M probably damaging Het
Calcrl T C 2: 84,163,881 (GRCm39) T437A probably benign Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cntnap4 A G 8: 113,608,462 (GRCm39) E1294G possibly damaging Het
Crybg3 C A 16: 59,350,561 (GRCm39) G2607V probably damaging Het
Dhx29 G T 13: 113,072,132 (GRCm39) probably null Het
Dmrtb1 T A 4: 107,541,322 (GRCm39) H13L probably damaging Het
Echdc2 A G 4: 108,031,006 (GRCm39) M162V probably benign Het
Entpd8 A G 2: 24,974,986 (GRCm39) D439G possibly damaging Het
Fastkd2 C G 1: 63,785,046 (GRCm39) H477Q probably null Het
Fbrs A G 7: 127,084,529 (GRCm39) E517G probably damaging Het
Gchfr A G 2: 119,002,502 (GRCm39) T71A possibly damaging Het
Hecw1 A T 13: 14,552,492 (GRCm39) C35S probably damaging Het
Izumo1r C T 9: 14,813,098 (GRCm39) R58H probably benign Het
Kif13a T C 13: 46,906,332 (GRCm39) E537G possibly damaging Het
Kif13b G A 14: 65,019,790 (GRCm39) probably null Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Lnpk A T 2: 74,378,340 (GRCm39) D140E probably damaging Het
Ltbp1 A G 17: 75,559,362 (GRCm39) M284V probably benign Het
Me3 A T 7: 89,495,050 (GRCm39) T323S possibly damaging Het
Mtus1 A G 8: 41,535,895 (GRCm39) V607A probably damaging Het
Myh14 A T 7: 44,305,118 (GRCm39) probably null Het
Myo1h T A 5: 114,485,496 (GRCm39) C545* probably null Het
Nbn T A 4: 15,964,289 (GRCm39) D121E probably damaging Het
Nox4 A G 7: 87,019,231 (GRCm39) Y408C probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or10q1b A G 19: 13,682,566 (GRCm39) D125G probably damaging Het
Or52d3 T A 7: 104,229,268 (GRCm39) Y138* probably null Het
Or5w20 G A 2: 87,727,286 (GRCm39) A248T probably benign Het
Osbpl5 T C 7: 143,262,939 (GRCm39) T150A possibly damaging Het
Pgap3 C A 11: 98,280,879 (GRCm39) M265I probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkd2l2 A T 18: 34,560,446 (GRCm39) N351I possibly damaging Het
Prkdc T A 16: 15,493,192 (GRCm39) Y700N probably benign Het
Pzp A G 6: 128,500,931 (GRCm39) probably null Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rptor A T 11: 119,786,827 (GRCm39) Q1264L probably benign Het
Scnn1a T C 6: 125,299,103 (GRCm39) F61S probably damaging Het
Tenm2 C A 11: 35,997,610 (GRCm39) W825C probably damaging Het
Tex264 A T 9: 106,559,116 (GRCm39) I70N possibly damaging Het
Tns2 G T 15: 102,019,645 (GRCm39) D504Y probably damaging Het
Trappc14 T C 5: 138,260,128 (GRCm39) I338V probably benign Het
Trpc2 T A 7: 101,733,447 (GRCm39) F132Y probably damaging Het
Trpm4 A G 7: 44,958,021 (GRCm39) F816S probably damaging Het
Uqcc1 G A 2: 155,763,641 (GRCm39) Q5* probably null Het
Usp36 G T 11: 118,175,771 (GRCm39) T130N probably damaging Het
Vav1 A G 17: 57,604,252 (GRCm39) M165V probably benign Het
Vmn1r64 A T 7: 5,886,803 (GRCm39) F247I probably damaging Het
Vmn2r26 G C 6: 124,016,706 (GRCm39) R390P probably benign Het
Vmn2r57 G T 7: 41,049,548 (GRCm39) H734N probably benign Het
Wfdc16 G T 2: 164,477,843 (GRCm39) H69N possibly damaging Het
Zfp316 C T 5: 143,239,317 (GRCm39) E901K probably damaging Het
Zfp334 T C 2: 165,223,719 (GRCm39) E108G probably damaging Het
Zfp407 T C 18: 84,227,763 (GRCm39) S1949G probably benign Het
Zfp408 A G 2: 91,476,473 (GRCm39) L227P probably benign Het
Zfp560 T C 9: 20,259,287 (GRCm39) H525R possibly damaging Het
Zfp609 G A 9: 65,611,754 (GRCm39) A403V possibly 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
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
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'- TCGAGAAGGCTTCGTTCTGCTG -3'
(R):5'- AAGGAATTCGTGCCGTTCCTGC -3'

Sequencing Primer
(F):5'- GCATCATTCCATCCATAACAGTTGG -3'
(R):5'- CTGAACTTCCTGAGGGAGCAG -3'
Posted On 2014-04-13