Incidental Mutation 'R3932:Ctdnep1'
Institutional Source Beutler Lab
Gene Symbol Ctdnep1
Ensembl Gene ENSMUSG00000018559
Gene NameCTD nuclear envelope phosphatase 1
Synonyms2610507E10Rik, Dullard
MMRRC Submission 040919-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R3932 (G1)
Quality Score188
Status Validated
Chromosomal Location69981156-69990601 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 69989574 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018711] [ENSMUST00000108592] [ENSMUST00000108593] [ENSMUST00000141623]
Predicted Effect probably benign
Transcript: ENSMUST00000018711
SMART Domains Protein: ENSMUSP00000018711
Gene: ENSMUSG00000018567

Pfam:Atg8 13 116 1.8e-51 PFAM
Pfam:APG12 30 116 6.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108592
SMART Domains Protein: ENSMUSP00000104233
Gene: ENSMUSG00000018567

Pfam:Atg8 13 93 5.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108593
SMART Domains Protein: ENSMUSP00000104234
Gene: ENSMUSG00000018559

transmembrane domain 7 29 N/A INTRINSIC
CPDc 60 212 7.35e-76 SMART
low complexity region 214 224 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139007
Predicted Effect probably benign
Transcript: ENSMUST00000141623
SMART Domains Protein: ENSMUSP00000137199
Gene: ENSMUSG00000018559

CPDc 1 79 6.29e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152226
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 100% (52/52)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, abnormal extraembryonic tissue development, poorly developed head fold and trunk and severely reduced primordial germ cell numbers due to a failure to transit to mesoderm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b2 C T 7: 81,473,850 probably benign Het
Arl1 C T 10: 88,733,536 probably benign Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Atp10a T C 7: 58,827,104 M1189T possibly damaging Het
BC051142 A G 17: 34,443,443 T86A possibly damaging Het
Bcl2l14 A G 6: 134,423,808 D64G probably damaging Het
Cdc34b G A 11: 94,742,615 V214M probably benign Het
Cfap54 T C 10: 92,829,757 T2985A probably benign Het
Clcc1 T C 3: 108,673,366 M332T probably damaging Het
Coch T C 12: 51,603,338 I370T probably damaging Het
Edar C T 10: 58,610,342 C221Y probably damaging Het
Fam135b T A 15: 71,450,431 Q1295L probably benign Het
Fam184a C T 10: 53,699,301 A71T probably damaging Het
Fbxw10 A G 11: 62,869,157 probably benign Het
Frmd4a T C 2: 4,537,260 W247R probably damaging Het
Gcn1l1 A G 5: 115,587,834 H553R probably benign Het
Grin3a C T 4: 49,672,472 probably null Het
H2-Q6 C T 17: 35,425,566 probably benign Het
Hivep2 C A 10: 14,128,969 T437K probably benign Het
Hspg2 T C 4: 137,515,568 V670A probably damaging Het
Med10 A G 13: 69,809,982 N18D probably damaging Het
Mgat4b T A 11: 50,233,338 H368Q possibly damaging Het
Morn5 C A 2: 36,053,023 T45N probably damaging Het
Mrc2 G A 11: 105,348,431 probably null Het
Msl3 C T X: 168,671,817 A87T probably damaging Het
Myrf T C 19: 10,218,151 T432A probably damaging Het
Nav3 T A 10: 109,694,035 E2148D probably damaging Het
Nfe2l3 A G 6: 51,456,615 T236A possibly damaging Het
Odc1 T A 12: 17,548,800 F227Y probably benign Het
Olfr1444 T C 19: 12,862,630 M285T possibly damaging Het
Opa1 A T 16: 29,610,880 E401D probably damaging Het
Pdcd1 T C 1: 94,041,264 I110V probably benign Het
Pde5a G A 3: 122,760,896 E212K probably damaging Het
Plin4 A G 17: 56,106,704 I307T probably benign Het
Rag1 T C 2: 101,643,039 Y586C probably damaging Het
Rgs7bp T C 13: 105,052,998 M98V probably benign Het
Rgs9 A G 11: 109,275,813 probably benign Het
Rin3 A G 12: 102,390,083 D961G probably damaging Het
Rubcn A G 16: 32,829,259 probably null Het
Slc13a2 T A 11: 78,398,400 Y495F probably damaging Het
Tfec T A 6: 16,845,459 D67V probably damaging Het
Tmem28 G A X: 99,821,864 V266M possibly damaging Het
Tmem94 T C 11: 115,789,254 M30T probably benign Het
Tubgcp6 A G 15: 89,104,414 probably benign Het
Vmn2r10 C A 5: 109,002,222 A319S possibly damaging Het
Vmn2r85 T C 10: 130,418,467 M783V probably damaging Het
Zfp422 T C 6: 116,626,459 K193R probably benign Het
Zfp94 T G 7: 24,303,687 D110A probably benign Het
Other mutations in Ctdnep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03246:Ctdnep1 APN 11 69984330 unclassified probably benign
R0118:Ctdnep1 UTSW 11 69988731 critical splice donor site probably null
R1521:Ctdnep1 UTSW 11 69988635 missense probably damaging 1.00
R2980:Ctdnep1 UTSW 11 69988671 missense probably damaging 0.97
R4117:Ctdnep1 UTSW 11 69988671 missense probably damaging 0.97
R5383:Ctdnep1 UTSW 11 69984396 unclassified probably benign
R5485:Ctdnep1 UTSW 11 69981490 missense possibly damaging 0.93
R5913:Ctdnep1 UTSW 11 69988865 missense probably damaging 1.00
R6214:Ctdnep1 UTSW 11 69989508 missense probably damaging 1.00
R6706:Ctdnep1 UTSW 11 69984312 missense probably benign
R7733:Ctdnep1 UTSW 11 69990009 missense probably damaging 1.00
R8312:Ctdnep1 UTSW 11 69988701 missense probably benign
R8921:Ctdnep1 UTSW 11 69984485 missense probably damaging 0.97
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-04-17