Incidental Mutation 'R7055:Cdan1'
ID 547826
Institutional Source Beutler Lab
Gene Symbol Cdan1
Ensembl Gene ENSMUSG00000027284
Gene Name codanin 1
Synonyms 1500015A01Rik, codanin-1, CDA1, CDA-I
MMRRC Submission 045152-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7055 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 120546635-120561998 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120558342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 490 (I490T)
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 possibly damaging
Transcript: ENSMUST00000110700
AA Change: I490T

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: I490T

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: I490T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: I490T

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 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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,062,083 (GRCm39) S178P probably damaging Het
2610008E11Rik C T 10: 78,903,681 (GRCm39) E212K probably damaging Het
Abcc4 A T 14: 118,832,197 (GRCm39) L736* probably null Het
Acmsd A T 1: 127,681,570 (GRCm39) M178L probably benign Het
Adpgk T A 9: 59,220,476 (GRCm39) M266K possibly damaging Het
Aldh1b1 G A 4: 45,802,909 (GRCm39) R149H possibly damaging Het
Aox1 A G 1: 58,338,927 (GRCm39) T307A probably benign Het
C1galt1 T C 6: 7,866,585 (GRCm39) Y144H probably damaging Het
Cabin1 G C 10: 75,579,117 (GRCm39) Q440E probably benign Het
Casq2 A G 3: 102,049,561 (GRCm39) S231G probably damaging Het
Catsper2 TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT 2: 121,228,053 (GRCm39) probably benign Het
Cep170b T A 12: 112,702,149 (GRCm39) V314E probably damaging Het
Col4a4 T C 1: 82,496,757 (GRCm39) E413G unknown Het
Cyp3a25 A C 5: 145,929,801 (GRCm39) F189L probably benign Het
Dido1 T A 2: 180,303,002 (GRCm39) H1634L probably benign Het
Dnaja2 A C 8: 86,275,303 (GRCm39) V156G probably benign Het
Dpy19l4 T C 4: 11,290,291 (GRCm39) probably null Het
Eomes A T 9: 118,309,567 (GRCm39) N240I possibly damaging Het
Fads6 A G 11: 115,176,229 (GRCm39) F199L probably benign Het
Fbrs T C 7: 127,086,956 (GRCm39) probably null Het
Fndc4 T C 5: 31,451,522 (GRCm39) E153G probably benign Het
Fv1 TTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTC 4: 147,954,775 (GRCm39) probably null Het
Fzr1 T C 10: 81,206,057 (GRCm39) Y210C probably damaging Het
Gjc2 T A 11: 59,067,856 (GRCm39) M209L unknown Het
Gpr33 A G 12: 52,071,036 (GRCm39) M1T probably null Het
Gtf2a1 A T 12: 91,553,523 (GRCm39) I28N possibly damaging Het
Igf2r A C 17: 12,923,210 (GRCm39) Y1200D probably damaging Het
Ivd C T 2: 118,703,730 (GRCm39) T212I probably damaging Het
Jag1 A G 2: 136,957,409 (GRCm39) V101A probably benign Het
Kansl3 A T 1: 36,404,701 (GRCm39) V83D possibly damaging Het
Krt81 T A 15: 101,359,006 (GRCm39) I249F probably benign Het
Krtap21-1 G A 16: 89,200,591 (GRCm39) S17L unknown Het
Macf1 A T 4: 123,302,989 (GRCm39) H504Q probably benign Het
Map2 A G 1: 66,455,983 (GRCm39) T1499A probably damaging Het
Map3k9 T C 12: 81,770,982 (GRCm39) T892A probably damaging Het
Mcl1 G A 3: 95,567,110 (GRCm39) V178I probably benign Het
Mrs2 T A 13: 25,188,937 (GRCm39) M126L probably benign Het
Msantd1 C A 5: 35,075,005 (GRCm39) N9K probably benign Het
Myh9 C T 15: 77,659,398 (GRCm39) R116H probably damaging Het
Nfib A T 4: 82,248,662 (GRCm39) D308E probably benign Het
Nme2 T A 11: 93,846,416 (GRCm39) I11F probably damaging Het
Nmnat3 A G 9: 98,292,286 (GRCm39) D111G probably benign Het
Or5d37 T A 2: 87,924,045 (GRCm39) L78F probably damaging Het
Papss2 T C 19: 32,641,827 (GRCm39) W501R probably damaging Het
Parn A G 16: 13,443,998 (GRCm39) I384T possibly damaging Het
Pcdhb18 A G 18: 37,623,864 (GRCm39) D398G possibly damaging Het
Pdcl2 T C 5: 76,465,771 (GRCm39) N102D probably benign Het
Pdzrn3 C A 6: 101,128,735 (GRCm39) E644* probably null Het
Pi4ka T A 16: 17,134,879 (GRCm39) probably benign Het
Polg2 A G 11: 106,668,040 (GRCm39) F216L probably damaging Het
Prkcsh A G 9: 21,924,457 (GRCm39) *522W probably null Het
Prkcz G T 4: 155,374,091 (GRCm39) D108E probably benign Het
Pros1 T C 16: 62,748,465 (GRCm39) V646A possibly damaging Het
Ptprc A G 1: 138,017,309 (GRCm39) I483T probably damaging Het
Rabep2 T C 7: 126,044,485 (GRCm39) I527T possibly damaging Het
Rad50 T C 11: 53,578,929 (GRCm39) K543R probably benign Het
Samd4b A G 7: 28,103,458 (GRCm39) I553T probably benign Het
Sbpl A T 17: 24,172,276 (GRCm39) N214K unknown Het
Scgb2b11 C T 7: 31,909,907 (GRCm39) E60K possibly damaging Het
Sgk3 G A 1: 9,956,284 (GRCm39) E331K probably damaging Het
Snx6 A T 12: 54,830,864 (GRCm39) L32Q probably damaging Het
Srgap3 T A 6: 112,723,924 (GRCm39) Q512L probably damaging Het
Srsf12 A G 4: 33,226,157 (GRCm39) D135G probably damaging Het
Steap4 A G 5: 8,026,858 (GRCm39) T274A probably damaging Het
Svep1 A T 4: 58,064,275 (GRCm39) V3236D probably benign Het
Svep1 A T 4: 58,120,642 (GRCm39) F797Y probably benign Het
Tmem116 T C 5: 121,605,987 (GRCm39) L113P probably damaging Het
Tnfrsf1b A G 4: 144,951,457 (GRCm39) V161A probably damaging Het
Tnpo1 G T 13: 98,991,987 (GRCm39) Q622K possibly damaging Het
Top1mt A G 15: 75,550,523 (GRCm39) V28A probably benign Het
Trim25 T C 11: 88,890,750 (GRCm39) S146P probably benign Het
Tuba3b A G 6: 145,566,935 (GRCm39) D392G possibly damaging Het
Utrn C T 10: 12,623,665 (GRCm39) R191Q probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdfy2 T A 14: 63,137,748 (GRCm39) S84T probably benign Het
Zfp873 T A 10: 81,895,832 (GRCm39) F225I 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
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
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'- CAGAACAAGTGCATGGCATCC -3'
(R):5'- TATGGGGTTAAAGACTGGCACTG -3'

Sequencing Primer
(F):5'- CATCCCTGGGATTGAGAAGC -3'
(R):5'- CACTGTGGGCAGGCTTATCTTAAAC -3'
Posted On 2019-05-13