Incidental Mutation 'R1370:Cdan1'
ID 155920
Institutional Source Beutler Lab
Gene Symbol Cdan1
Ensembl Gene ENSMUSG00000027284
Gene Name codanin 1
Synonyms 1500015A01Rik, codanin-1, CDA1, CDA-I
MMRRC Submission 039434-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1370 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 120546635-120561998 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 120549620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110700] [ENSMUST00000110700] [ENSMUST00000110701] [ENSMUST00000110701] [ENSMUST00000140843] [ENSMUST00000154193] [ENSMUST00000180041]
AlphaFold Q8CC12
Predicted Effect probably benign
Transcript: ENSMUST00000070420
SMART Domains Protein: ENSMUSP00000070111
Gene: ENSMUSG00000033705

DomainStartEndE-ValueType
coiled coil region 97 138 N/A INTRINSIC
low complexity region 142 151 N/A INTRINSIC
low complexity region 157 174 N/A INTRINSIC
low complexity region 234 255 N/A INTRINSIC
Pfam:START 274 469 3.2e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000110700
SMART Domains Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284

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 null
Transcript: ENSMUST00000110700
SMART Domains Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284

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 null
Transcript: ENSMUST00000110701
SMART Domains Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284

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 probably null
Transcript: ENSMUST00000110701
SMART Domains Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284

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: ENSMUST00000126753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129384
Predicted Effect probably benign
Transcript: ENSMUST00000140843
SMART Domains Protein: ENSMUSP00000117178
Gene: ENSMUSG00000033705

DomainStartEndE-ValueType
FHA 63 115 2.8e-4 SMART
coiled coil region 334 354 N/A INTRINSIC
low complexity region 573 584 N/A INTRINSIC
low complexity region 866 871 N/A INTRINSIC
low complexity region 1023 1035 N/A INTRINSIC
low complexity region 1234 1248 N/A INTRINSIC
low complexity region 1765 1775 N/A INTRINSIC
low complexity region 2546 2559 N/A INTRINSIC
low complexity region 2953 2963 N/A INTRINSIC
low complexity region 3269 3281 N/A INTRINSIC
low complexity region 3421 3435 N/A INTRINSIC
coiled coil region 3767 3808 N/A INTRINSIC
low complexity region 3812 3821 N/A INTRINSIC
low complexity region 3827 3844 N/A INTRINSIC
low complexity region 3904 3925 N/A INTRINSIC
SCOP:d1jssa_ 3946 4142 1e-28 SMART
Blast:START 3947 4143 1e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141917
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
Predicted Effect probably benign
Transcript: ENSMUST00000180041
SMART Domains Protein: ENSMUSP00000136055
Gene: ENSMUSG00000033705

DomainStartEndE-ValueType
KISc 1 392 3.31e-143 SMART
low complexity region 398 409 N/A INTRINSIC
FHA 481 533 2.8e-4 SMART
coiled coil region 752 772 N/A INTRINSIC
low complexity region 991 1002 N/A INTRINSIC
low complexity region 1284 1289 N/A INTRINSIC
low complexity region 1441 1453 N/A INTRINSIC
low complexity region 1652 1666 N/A INTRINSIC
low complexity region 2183 2193 N/A INTRINSIC
low complexity region 2964 2977 N/A INTRINSIC
low complexity region 3371 3381 N/A INTRINSIC
low complexity region 3687 3699 N/A INTRINSIC
low complexity region 3839 3853 N/A INTRINSIC
coiled coil region 4185 4226 N/A INTRINSIC
low complexity region 4230 4239 N/A INTRINSIC
low complexity region 4245 4262 N/A INTRINSIC
low complexity region 4322 4343 N/A INTRINSIC
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.6%
  • 20x: 84.8%
Validation Efficiency 99% (80/81)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Adgra3 T C 5: 50,118,129 (GRCm39) I1140V possibly damaging Het
Adrb3 A T 8: 27,717,798 (GRCm39) probably null Het
Afap1 A G 5: 36,092,944 (GRCm39) D16G unknown Het
AI593442 T C 9: 52,589,308 (GRCm39) K90E probably damaging Het
Aicda A T 6: 122,538,144 (GRCm39) N101Y probably benign Het
Alx1 A G 10: 102,864,353 (GRCm39) S39P possibly damaging Het
Ankrd52 A G 10: 128,224,565 (GRCm39) D781G possibly damaging Het
Arhgef5 T A 6: 43,260,846 (GRCm39) F1424I probably damaging Het
Atp10b G A 11: 43,042,482 (GRCm39) W14* probably null Het
Bin1 A G 18: 32,562,756 (GRCm39) I416V probably benign Het
Bptf A T 11: 106,937,920 (GRCm39) S2724T probably damaging Het
Brf1 A T 12: 112,924,728 (GRCm39) probably null Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cd226 T A 18: 89,265,147 (GRCm39) S29T probably benign Het
Chaf1a A T 17: 56,371,032 (GRCm39) H639L probably benign Het
Chd1 G A 17: 17,607,742 (GRCm39) G430D probably benign Het
Ciao3 A G 17: 25,995,962 (GRCm39) E62G probably benign Het
Clca3a2 T C 3: 144,519,624 (GRCm39) probably benign Het
Clptm1 A G 7: 19,367,797 (GRCm39) V605A possibly damaging Het
Cmpk2 A G 12: 26,521,451 (GRCm39) D241G probably damaging Het
Cryzl1 A G 16: 91,489,546 (GRCm39) V266A possibly damaging Het
Cyp2c68 A G 19: 39,729,400 (GRCm39) L29P probably damaging Het
Dennd3 A C 15: 73,412,703 (GRCm39) probably benign Het
Dennd4c T A 4: 86,729,747 (GRCm39) I783N probably damaging Het
Dock10 A G 1: 80,518,060 (GRCm39) S1305P probably damaging Het
Eml6 T G 11: 29,783,085 (GRCm39) S599R probably benign Het
Gbp8 C T 5: 105,164,442 (GRCm39) A394T possibly damaging Het
H1f10 A G 6: 87,958,133 (GRCm39) I69T probably damaging Het
Herc2 T A 7: 55,818,621 (GRCm39) C2771S probably benign Het
Ism1 A T 2: 139,573,994 (GRCm39) I115F possibly damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Itgb8 C T 12: 119,134,738 (GRCm39) G443E probably benign Het
Kalrn T A 16: 33,795,954 (GRCm39) I1274F possibly damaging Het
Klk1b11 A G 7: 43,426,331 (GRCm39) I22V probably benign Het
Krt6b T C 15: 101,585,987 (GRCm39) D362G probably damaging Het
Lce1e A G 3: 92,615,150 (GRCm39) S66P unknown Het
Letm1 A T 5: 33,936,026 (GRCm39) probably null Het
Lrrcc1 G T 3: 14,613,174 (GRCm39) V299L probably benign Het
Mettl5 A T 2: 69,711,764 (GRCm39) probably null Het
Mrpl12 A G 11: 120,376,127 (GRCm39) S46G probably benign Het
Ndrg3 T C 2: 156,780,570 (GRCm39) E198G probably damaging Het
Or5ac16 A G 16: 59,022,043 (GRCm39) S249P probably damaging Het
Pcdh20 A G 14: 88,705,737 (GRCm39) I521T probably benign Het
Pdzph1 T C 17: 59,281,082 (GRCm39) D400G possibly damaging Het
Per2 A T 1: 91,373,279 (GRCm39) S170T possibly damaging Het
Pramel25 T A 4: 143,521,874 (GRCm39) L497I possibly damaging Het
Pros1 A G 16: 62,739,921 (GRCm39) K457E probably benign Het
Rer1 T A 4: 155,160,081 (GRCm39) M156L probably benign Het
Rerg A T 6: 137,034,799 (GRCm39) probably benign Het
Sel1l3 G T 5: 53,357,559 (GRCm39) H144Q possibly damaging Het
Septin2 G T 1: 93,426,828 (GRCm39) V146L probably damaging Het
Setd1b C T 5: 123,298,748 (GRCm39) probably benign Het
Sh3bp4 A T 1: 89,071,494 (GRCm39) Y114F probably benign Het
Slc44a5 C A 3: 153,948,796 (GRCm39) T188K probably benign Het
Slco6d1 A C 1: 98,350,819 (GRCm39) I100L probably benign Het
Slfn4 G T 11: 83,079,632 (GRCm39) D441Y probably damaging Het
Smg1 T C 7: 117,758,975 (GRCm39) probably benign Het
Snrpb2 A G 2: 142,907,086 (GRCm39) probably benign Het
Sspo T A 6: 48,425,560 (GRCm39) S60R probably benign Het
Stard9 T C 2: 120,527,958 (GRCm39) V1405A probably benign Het
Syt1 A G 10: 108,526,783 (GRCm39) L42P probably damaging Het
Tarbp1 T C 8: 127,175,069 (GRCm39) D789G probably benign Het
Tbcel A T 9: 42,361,358 (GRCm39) D63E probably damaging Het
Tdrd3 A T 14: 87,695,490 (GRCm39) probably benign Het
Tiam1 A T 16: 89,695,109 (GRCm39) I116N probably benign Het
Tsc22d1 A G 14: 76,675,104 (GRCm39) probably benign Het
Tsga10 G T 1: 37,874,534 (GRCm39) T117K probably damaging Het
Ttc3 A G 16: 94,219,496 (GRCm39) S492G possibly damaging Het
Ttn G T 2: 76,677,495 (GRCm39) probably benign Het
Wasf3 T C 5: 146,407,018 (GRCm39) probably benign Het
Zbtb37 C T 1: 160,859,592 (GRCm39) E238K probably benign Het
Zfp354c A G 11: 50,706,667 (GRCm39) I136T probably benign Het
Zfp384 G A 6: 125,013,416 (GRCm39) A479T probably benign Het
Zfp646 T A 7: 127,479,036 (GRCm39) N404K 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
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
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'- GGATGTTCTGTCCTTTCCAAGGTCAA -3'
(R):5'- GCATGTTAAGCTTTATCTCCAACCCCA -3'

Sequencing Primer
(F):5'- CTTTCCAAGGTCAATCCTAAATAAGC -3'
(R):5'- GGACTGCTATCCAGTCTTCAG -3'
Posted On 2014-02-11