Incidental Mutation 'R9376:Ctdnep1'
ID 709640
Institutional Source Beutler Lab
Gene Symbol Ctdnep1
Ensembl Gene ENSMUSG00000018559
Gene Name CTD nuclear envelope phosphatase 1
Synonyms Dullard, 2610507E10Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9376 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 69871994-69881427 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69875594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 108 (V108A)
Ref Sequence ENSEMBL: ENSMUSP00000104234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108593] [ENSMUST00000108594] [ENSMUST00000108595] [ENSMUST00000141623] [ENSMUST00000142788] [ENSMUST00000143175] [ENSMUST00000147437]
AlphaFold Q3TP92
Predicted Effect probably damaging
Transcript: ENSMUST00000108593
AA Change: V108A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104234
Gene: ENSMUSG00000018559
AA Change: V108A

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
CPDc 60 212 7.35e-76 SMART
low complexity region 214 224 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108594
SMART Domains Protein: ENSMUSP00000104235
Gene: ENSMUSG00000018565

DomainStartEndE-ValueType
Pfam:Elong_Iki1 1 201 1.1e-12 PFAM
Pfam:Elong_Iki1 205 282 3.8e-10 PFAM
low complexity region 283 299 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108595
SMART Domains Protein: ENSMUSP00000104236
Gene: ENSMUSG00000018565

DomainStartEndE-ValueType
Pfam:Elong_Iki1 1 139 9.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127437
Predicted Effect probably benign
Transcript: ENSMUST00000141623
SMART Domains Protein: ENSMUSP00000137199
Gene: ENSMUSG00000018559

DomainStartEndE-ValueType
CPDc 1 79 6.29e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142788
SMART Domains Protein: ENSMUSP00000136063
Gene: ENSMUSG00000018565

DomainStartEndE-ValueType
Pfam:Elong_Iki1 1 63 1.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143175
Predicted Effect probably benign
Transcript: ENSMUST00000147437
SMART Domains Protein: ENSMUSP00000117394
Gene: ENSMUSG00000018565

DomainStartEndE-ValueType
Pfam:Elong_Iki1 1 115 1.7e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,893,438 (GRCm39) L1296H probably damaging Het
Abcb4 A T 5: 9,008,988 (GRCm39) D1215V probably damaging Het
Ache A C 5: 137,289,025 (GRCm39) I244L probably benign Het
Ankrd13d A T 19: 4,332,250 (GRCm39) V58D probably damaging Het
Ano3 A G 2: 110,496,782 (GRCm39) L789S probably damaging Het
Atp2a3 T C 11: 72,863,290 (GRCm39) V129A probably damaging Het
Cldn11 T C 3: 31,217,410 (GRCm39) S193P possibly damaging Het
Clpb A T 7: 101,360,625 (GRCm39) R218S probably benign Het
Cntln A G 4: 84,875,258 (GRCm39) S231G probably benign Het
Cntn4 T C 6: 106,639,591 (GRCm39) Y574H probably damaging Het
Col6a3 C T 1: 90,709,523 (GRCm39) R2498H unknown Het
Cyp2c67 A T 19: 39,627,178 (GRCm39) N217K probably damaging Het
Dao T A 5: 114,147,901 (GRCm39) M1K probably null Het
Dchs1 A G 7: 105,414,981 (GRCm39) probably null Het
Dennd4a A T 9: 64,819,974 (GRCm39) I1809L probably benign Het
Dnah7a T A 1: 53,568,058 (GRCm39) probably null Het
Epn1 A T 7: 5,086,720 (GRCm39) probably benign Het
Erich1 A G 8: 14,080,719 (GRCm39) S267P probably damaging Het
Gm17732 G T 18: 62,795,936 (GRCm39) V41L probably damaging Het
Gpaa1 C A 15: 76,218,826 (GRCm39) T556K possibly damaging Het
Gpr65 T A 12: 98,241,523 (GRCm39) S59T probably damaging Het
Hydin T C 8: 111,124,695 (GRCm39) V568A possibly damaging Het
Ifi205 T C 1: 173,854,221 (GRCm39) D144G probably benign Het
Itga1 T C 13: 115,107,112 (GRCm39) H993R probably benign Het
Itgax T C 7: 127,747,935 (GRCm39) L1075P possibly damaging Het
Itpr1 T A 6: 108,326,638 (GRCm39) V120E probably damaging Het
Kdm3b T C 18: 34,970,718 (GRCm39) S1762P probably damaging Het
Krt80 T A 15: 101,247,978 (GRCm39) T221S unknown Het
Lama2 T C 10: 26,994,620 (GRCm39) D1763G probably benign Het
Lrp5 T C 19: 3,670,286 (GRCm39) D606G probably benign Het
Map6d1 T C 16: 20,059,933 (GRCm39) D44G probably benign Het
Mtmr11 T A 3: 96,072,372 (GRCm39) I282K probably benign Het
Nalcn G A 14: 123,515,713 (GRCm39) T1696M possibly damaging Het
Nup214 T C 2: 31,924,244 (GRCm39) V1591A probably benign Het
Oas1f C A 5: 120,986,243 (GRCm39) Y65* probably null Het
Or1x6 T A 11: 50,939,662 (GRCm39) C243S probably damaging Het
Or2t43 T A 11: 58,457,683 (GRCm39) T163S possibly damaging Het
Or2t46 T C 11: 58,472,636 (GRCm39) V322A probably benign Het
Or51f1e A T 7: 102,746,971 (GRCm39) T8S probably benign Het
Or5p58 A T 7: 107,694,471 (GRCm39) I102K possibly damaging Het
Palld C T 8: 61,969,691 (GRCm39) R1211H unknown Het
Pigyl A G 9: 22,069,324 (GRCm39) I12V probably benign Het
Pno1 A T 11: 17,158,791 (GRCm39) D202E probably benign Het
Ppp5c A T 7: 16,743,849 (GRCm39) M195K probably damaging Het
Prrc2a A T 17: 35,369,598 (GRCm39) F1905Y possibly damaging Het
Ptpn11 C A 5: 121,282,681 (GRCm39) D435Y probably damaging Het
Rbm33 A G 5: 28,544,164 (GRCm39) Y140C probably damaging Het
Runx1t1 A G 4: 13,865,225 (GRCm39) E339G possibly damaging Het
Scube3 G T 17: 28,383,670 (GRCm39) K480N possibly damaging Het
Sephs1 T A 2: 4,910,469 (GRCm39) M313K probably benign Het
Tcaim T C 9: 122,655,995 (GRCm39) W304R probably damaging Het
Terf2ip C T 8: 112,738,514 (GRCm39) T134I probably damaging Het
Terf2ip A G 8: 112,744,528 (GRCm39) T282A probably benign Het
Tnfrsf18 G T 4: 156,112,448 (GRCm39) A102S probably benign Het
Trim10 A T 17: 37,184,168 (GRCm39) I254F probably benign Het
Triqk A G 4: 12,962,987 (GRCm39) T9A probably benign Het
Tshz2 G A 2: 169,726,013 (GRCm39) S203N probably benign Het
Zc3h13 G A 14: 75,561,128 (GRCm39) V573I unknown Het
Zfhx4 A G 3: 5,306,833 (GRCm39) K20E probably damaging Het
Zfhx4 A G 3: 5,465,395 (GRCm39) D1876G probably benign Het
Other mutations in Ctdnep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03246:Ctdnep1 APN 11 69,875,156 (GRCm39) unclassified probably benign
R0118:Ctdnep1 UTSW 11 69,879,557 (GRCm39) critical splice donor site probably null
R1521:Ctdnep1 UTSW 11 69,879,461 (GRCm39) missense probably damaging 1.00
R2980:Ctdnep1 UTSW 11 69,879,497 (GRCm39) missense probably damaging 0.97
R3932:Ctdnep1 UTSW 11 69,880,400 (GRCm39) unclassified probably benign
R4117:Ctdnep1 UTSW 11 69,879,497 (GRCm39) missense probably damaging 0.97
R5383:Ctdnep1 UTSW 11 69,875,222 (GRCm39) unclassified probably benign
R5485:Ctdnep1 UTSW 11 69,872,316 (GRCm39) missense possibly damaging 0.93
R5913:Ctdnep1 UTSW 11 69,879,691 (GRCm39) missense probably damaging 1.00
R6214:Ctdnep1 UTSW 11 69,880,334 (GRCm39) missense probably damaging 1.00
R6706:Ctdnep1 UTSW 11 69,875,138 (GRCm39) missense probably benign
R7733:Ctdnep1 UTSW 11 69,880,835 (GRCm39) missense probably damaging 1.00
R8312:Ctdnep1 UTSW 11 69,879,527 (GRCm39) missense probably benign
R8921:Ctdnep1 UTSW 11 69,875,311 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CAGAGTATGGAACGTTTGTGGC -3'
(R):5'- GGCTCTGTTCATTTAGAGAACCC -3'

Sequencing Primer
(F):5'- AACGTTTGTGGCAGTGCTCAC -3'
(R):5'- TGTTCATTTAGAGAACCCCAACTAC -3'
Posted On 2022-04-18