Incidental Mutation 'R6786:Cdin1'
ID 532350
Institutional Source Beutler Lab
Gene Symbol Cdin1
Ensembl Gene ENSMUSG00000040282
Gene Name CDAN1 interacting nuclease 1
Synonyms BC052040
MMRRC Submission 044900-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6786 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 115412197-115609249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115462462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 65 (I65V)
Ref Sequence ENSEMBL: ENSMUSP00000126772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110918] [ENSMUST00000166472]
AlphaFold Q3U4G0
Predicted Effect probably benign
Transcript: ENSMUST00000110918
AA Change: I65V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106543
Gene: ENSMUSG00000040282
AA Change: I65V

DomainStartEndE-ValueType
Pfam:TPD 131 270 1.3e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166472
AA Change: I65V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126772
Gene: ENSMUSG00000040282
AA Change: I65V

DomainStartEndE-ValueType
Pfam:TPD 132 275 2.2e-53 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency 96% (66/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two predicted helix-turn-helix domains. Mutations in this gene were found in families with congenital dyserythropoietic anemia type Ib. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a C A 4: 56,744,116 (GRCm39) Y214* probably null Het
Adnp2 A G 18: 80,172,960 (GRCm39) V483A probably benign Het
Aif1 C T 17: 35,390,472 (GRCm39) V93M probably damaging Het
Alpk2 A G 18: 65,439,705 (GRCm39) S563P probably benign Het
Ank2 A T 3: 126,752,581 (GRCm39) N378K probably damaging Het
Ano4 C T 10: 88,828,732 (GRCm39) probably null Het
Asxl3 G A 18: 22,658,497 (GRCm39) C2169Y probably damaging Het
Atp2b1 T C 10: 98,852,821 (GRCm39) C101R probably damaging Het
Bcs1l C T 1: 74,629,844 (GRCm39) R224C probably damaging Het
Car2 T C 3: 14,951,710 (GRCm39) probably benign Het
Cbln1 T C 8: 88,198,657 (GRCm39) N71S probably benign Het
Cdh8 T A 8: 99,950,579 (GRCm39) T224S probably benign Het
Cep131 G A 11: 119,956,218 (GRCm39) R1014W probably damaging Het
Cfap61 T C 2: 145,887,363 (GRCm39) S603P possibly damaging Het
Chd8 G T 14: 52,464,125 (GRCm39) L659I probably benign Het
Ckap5 G A 2: 91,387,920 (GRCm39) G255D probably benign Het
Clec18a C A 8: 111,807,572 (GRCm39) W126L probably benign Het
Cux1 T A 5: 136,596,085 (GRCm39) N4Y probably damaging Het
Dgcr8 A T 16: 18,101,693 (GRCm39) Y196* probably null Het
Dnah14 A T 1: 181,468,970 (GRCm39) I1267F probably benign Het
Dock7 T C 4: 98,949,529 (GRCm39) N438D probably benign Het
Dock8 A T 19: 25,160,386 (GRCm39) H1763L possibly damaging Het
Elp1 T C 4: 56,771,555 (GRCm39) D914G possibly damaging Het
Fpr-rs6 A T 17: 20,403,100 (GRCm39) M87K possibly damaging Het
Gabrg1 A G 5: 70,911,610 (GRCm39) S339P probably benign Het
Gm10801 AAGT AAGTAGT 2: 98,494,148 (GRCm39) probably null Het
Gm12695 A G 4: 96,651,058 (GRCm39) S132P probably damaging Het
Gm3443 T A 19: 21,533,128 (GRCm39) C31S probably damaging Het
Gzmf A T 14: 56,444,452 (GRCm39) F40L probably benign Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Lrguk A G 6: 34,072,522 (GRCm39) E604G probably benign Het
Marveld3 C A 8: 110,674,732 (GRCm39) K361N probably benign Het
Mgat4b A T 11: 50,121,525 (GRCm39) Y47F probably damaging Het
Mmel1 G T 4: 154,976,885 (GRCm39) E520* probably null Het
Msantd5f6 A T 4: 73,321,843 (GRCm39) M64K possibly damaging Het
Muc21 T C 17: 35,934,057 (GRCm39) probably benign Het
Myod1 A G 7: 46,027,741 (GRCm39) T294A probably benign Het
Nfix A T 8: 85,454,276 (GRCm39) S219T probably damaging Het
Nr4a2 A G 2: 57,001,920 (GRCm39) F115L probably benign Het
Numa1 A C 7: 101,641,845 (GRCm39) M98L probably benign Het
Or5b105 T C 19: 13,080,567 (GRCm39) I28V probably benign Het
P3h1 C T 4: 119,095,151 (GRCm39) L303F possibly damaging Het
Pias4 G A 10: 80,993,080 (GRCm39) T5I probably damaging Het
Pik3ip1 A G 11: 3,282,124 (GRCm39) N68S probably benign Het
Pkdrej T C 15: 85,702,850 (GRCm39) T1029A probably benign Het
Recql A T 6: 142,310,278 (GRCm39) D517E probably benign Het
Sall2 G T 14: 52,552,078 (GRCm39) H372Q probably damaging Het
Scn8a A C 15: 100,930,096 (GRCm39) I1436L probably benign Het
Slc4a5 T C 6: 83,273,729 (GRCm39) probably null Het
Stox2 A C 8: 47,639,500 (GRCm39) F898C probably damaging Het
Sumo2 A T 11: 115,414,601 (GRCm39) probably null Het
Sycp2 C T 2: 178,025,345 (GRCm39) E366K possibly damaging Het
Tanc1 A G 2: 59,622,150 (GRCm39) K423R probably benign Het
Tbx21 T A 11: 97,005,872 (GRCm39) Q31L possibly damaging Het
Tfap2a T A 13: 40,882,230 (GRCm39) N25I probably damaging Het
Tfdp1 C T 8: 13,420,485 (GRCm39) R105W probably damaging Het
Trav18 G A 14: 54,069,122 (GRCm39) V55I probably benign Het
Trgc1 A T 13: 19,400,646 (GRCm39) D125V unknown Het
Trim55 A G 3: 19,726,938 (GRCm39) D335G probably benign Het
Trim71 T A 9: 114,341,772 (GRCm39) T837S probably benign Het
Vmn1r56 T C 7: 5,198,961 (GRCm39) T219A probably benign Het
Vmn2r17 A T 5: 109,575,695 (GRCm39) T189S probably benign Het
Xaf1 A G 11: 72,197,461 (GRCm39) T146A probably benign Het
Zdbf2 T C 1: 63,343,679 (GRCm39) V686A possibly damaging Het
Zfp65 T C 13: 67,856,130 (GRCm39) H383R probably damaging Het
Zfp932 A G 5: 110,157,606 (GRCm39) T435A probably damaging Het
Zfp947 C T 17: 22,364,750 (GRCm39) G308D probably benign Het
Zswim3 T A 2: 164,662,771 (GRCm39) V417E probably damaging Het
Other mutations in Cdin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00660:Cdin1 APN 2 115,607,466 (GRCm39) missense possibly damaging 0.63
IGL02221:Cdin1 APN 2 115,469,547 (GRCm39) critical splice donor site probably null
IGL02486:Cdin1 APN 2 115,607,487 (GRCm39) missense possibly damaging 0.90
IGL03273:Cdin1 APN 2 115,462,472 (GRCm39) missense probably damaging 1.00
R0350:Cdin1 UTSW 2 115,607,411 (GRCm39) missense possibly damaging 0.79
R0499:Cdin1 UTSW 2 115,473,172 (GRCm39) missense probably damaging 1.00
R1479:Cdin1 UTSW 2 115,469,494 (GRCm39) missense probably benign 0.15
R1829:Cdin1 UTSW 2 115,473,173 (GRCm39) missense possibly damaging 0.69
R4736:Cdin1 UTSW 2 115,412,369 (GRCm39) missense probably benign 0.03
R4876:Cdin1 UTSW 2 115,500,539 (GRCm39) missense probably damaging 1.00
R4913:Cdin1 UTSW 2 115,500,568 (GRCm39) splice site probably null
R6834:Cdin1 UTSW 2 115,505,265 (GRCm39) missense probably benign 0.03
R6838:Cdin1 UTSW 2 115,607,471 (GRCm39) missense possibly damaging 0.81
R8893:Cdin1 UTSW 2 115,505,265 (GRCm39) missense probably benign 0.25
R9047:Cdin1 UTSW 2 115,607,504 (GRCm39) missense probably benign
R9787:Cdin1 UTSW 2 115,505,236 (GRCm39) missense probably damaging 1.00
X0028:Cdin1 UTSW 2 115,461,511 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGGAAAAGAAATCTTGCCAC -3'
(R):5'- ACACCATCGCCATATTCTTGAC -3'

Sequencing Primer
(F):5'- GGAAAAGAAATCTTGCCACCACCC -3'
(R):5'- TTCTTGACACATGCCAACTGAAG -3'
Posted On 2018-08-29