Incidental Mutation 'R2980:Ctdnep1'
ID 257059
Institutional Source Beutler Lab
Gene Symbol Ctdnep1
Ensembl Gene ENSMUSG00000018559
Gene Name CTD nuclear envelope phosphatase 1
Synonyms Dullard, 2610507E10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2980 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69871994-69881427 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 69879497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 7 (A7D)
Ref Sequence ENSEMBL: ENSMUSP00000137199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018711] [ENSMUST00000108592] [ENSMUST00000108593] [ENSMUST00000141623]
AlphaFold Q3TP92
Predicted Effect probably benign
Transcript: ENSMUST00000018711
SMART Domains Protein: ENSMUSP00000018711
Gene: ENSMUSG00000018567

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Atg8 13 93 5.4e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108593
AA Change: A140D

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104234
Gene: ENSMUSG00000018559
AA Change: A140D

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 noncoding transcript
Transcript: ENSMUST00000131531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139007
Predicted Effect probably damaging
Transcript: ENSMUST00000141623
AA Change: A7D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137199
Gene: ENSMUSG00000018559
AA Change: A7D

DomainStartEndE-ValueType
CPDc 1 79 6.29e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144443
Meta Mutation Damage Score 0.6157 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,633,034 (GRCm39) I236T probably benign Het
Alms1 T C 6: 85,605,817 (GRCm39) L2489P probably damaging Het
Astn1 G T 1: 158,400,521 (GRCm39) probably null Het
BC051665 T C 13: 60,932,209 (GRCm39) T127A probably damaging Het
Blnk T C 19: 40,950,794 (GRCm39) Y119C probably damaging Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Ddx4 A T 13: 112,748,619 (GRCm39) D452E probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Jak1 T C 4: 101,036,978 (GRCm39) I221V probably damaging Het
Kremen1 G GGGT 11: 5,151,794 (GRCm39) probably benign Het
Sox21 T C 14: 118,472,962 (GRCm39) E29G probably damaging Het
Tox4 T C 14: 52,529,983 (GRCm39) S548P probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Zfy1 T C Y: 739,054 (GRCm39) N51D unknown 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
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
R9376:Ctdnep1 UTSW 11 69,875,594 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGAGTCTCAAGGGCCTTC -3'
(R):5'- CAAAGTGCAGTGCTGGAAAC -3'

Sequencing Primer
(F):5'- TTCCCCAGACACTGAGCG -3'
(R):5'- CAGAGGACTATGGAGCACACC -3'
Posted On 2015-01-11