Incidental Mutation 'IGL01024:Nudcd1'
ID 54013
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nudcd1
Ensembl Gene ENSMUSG00000038736
Gene Name NudC domain containing 1
Synonyms 4921532K09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.887) question?
Stock # IGL01024
Quality Score
Status
Chromosome 15
Chromosomal Location 44238623-44291703 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44284222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 55 (M55L)
Ref Sequence ENSEMBL: ENSMUSP00000042746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038719] [ENSMUST00000226606] [ENSMUST00000227843]
AlphaFold Q6PIP5
Predicted Effect probably benign
Transcript: ENSMUST00000038719
AA Change: M55L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000042746
Gene: ENSMUSG00000038736
AA Change: M55L

DomainStartEndE-ValueType
Pfam:CS 275 349 1.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227789
Predicted Effect probably benign
Transcript: ENSMUST00000227843
AA Change: M55L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228319
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,767,040 (GRCm39) V209A probably benign Het
Abca6 T A 11: 110,087,968 (GRCm39) Y1053F probably benign Het
Acot12 C T 13: 91,929,330 (GRCm39) Q386* probably null Het
Adamts16 A G 13: 70,943,603 (GRCm39) V336A probably benign Het
Ankrd49 A G 9: 14,694,099 (GRCm39) F23L probably damaging Het
Aspm A T 1: 139,405,862 (GRCm39) H1583L possibly damaging Het
Atp6v0a1 A G 11: 100,939,265 (GRCm39) I677V probably benign Het
Brinp1 A T 4: 68,680,731 (GRCm39) W600R probably damaging Het
Ccdc185 T C 1: 182,574,988 (GRCm39) E567G possibly damaging Het
Clip2 T C 5: 134,539,066 (GRCm39) D445G probably damaging Het
Elp5 T C 11: 69,859,248 (GRCm39) probably benign Het
Gm9376 A G 14: 118,504,570 (GRCm39) M1V probably null Het
Gtf2a1l A G 17: 88,978,719 (GRCm39) K40R probably damaging Het
Hdc A G 2: 126,445,766 (GRCm39) V246A probably benign Het
Hectd2 T A 19: 36,583,793 (GRCm39) F479L probably damaging Het
Hipk1 G T 3: 103,667,952 (GRCm39) N538K probably benign Het
Kif27 T A 13: 58,436,015 (GRCm39) E1259D possibly damaging Het
Klhdc2 T A 12: 69,352,610 (GRCm39) N256K probably benign Het
Krt71 C T 15: 101,645,109 (GRCm39) A401T probably damaging Het
Mapk3 A T 7: 126,363,946 (GRCm39) K312* probably null Het
Med12l G T 3: 58,980,762 (GRCm39) S365I probably damaging Het
Mgam A G 6: 40,619,944 (GRCm39) K11R probably benign Het
Nox3 A T 17: 3,733,290 (GRCm39) I187N probably damaging Het
Or1a1b A T 11: 74,097,481 (GRCm39) L187Q probably damaging Het
Or4f59 A T 2: 111,872,716 (GRCm39) F220L probably benign Het
Or8b57 A G 9: 40,004,029 (GRCm39) S78P probably damaging Het
Pard6g T C 18: 80,123,037 (GRCm39) probably benign Het
Pbrm1 G A 14: 30,774,217 (GRCm39) R461H probably damaging Het
Ppm1f C A 16: 16,741,633 (GRCm39) T369K probably benign Het
Ppp1r16b C T 2: 158,582,736 (GRCm39) probably benign Het
Pramel29 A T 4: 143,935,045 (GRCm39) I232K possibly damaging Het
Prom2 T C 2: 127,383,059 (GRCm39) N61S probably benign Het
Psmc2 T C 5: 22,006,196 (GRCm39) probably benign Het
Psme2 A G 14: 55,825,893 (GRCm39) probably benign Het
Ptprc T C 1: 138,008,650 (GRCm39) H655R probably damaging Het
Pxdn A C 12: 30,037,098 (GRCm39) N292T probably damaging Het
Rapgef2 T C 3: 78,977,445 (GRCm39) I1301V probably benign Het
Rnase11 T C 14: 51,287,321 (GRCm39) I78V probably benign Het
Rpl41 A G 10: 128,384,246 (GRCm39) probably benign Het
Sgf29 G A 7: 126,264,103 (GRCm39) R56Q possibly damaging Het
Sis A G 3: 72,819,209 (GRCm39) L1449S probably damaging Het
Slc34a2 T A 5: 53,224,972 (GRCm39) V371D possibly damaging Het
Son C A 16: 91,452,798 (GRCm39) T515K probably damaging Het
Tbx15 A T 3: 99,223,562 (GRCm39) D250V probably damaging Het
Thoc2l T G 5: 104,669,612 (GRCm39) V1378G probably benign Het
Tmem171 T A 13: 98,823,026 (GRCm39) probably null Het
Ugt2b36 C T 5: 87,228,728 (GRCm39) probably null Het
Vill G A 9: 118,899,418 (GRCm39) probably null Het
Vmn2r22 A G 6: 123,615,012 (GRCm39) F193L probably damaging Het
Vmn2r95 C T 17: 18,672,590 (GRCm39) probably benign Het
Vstm2a T A 11: 16,231,874 (GRCm39) V223D possibly damaging Het
Other mutations in Nudcd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01956:Nudcd1 APN 15 44,263,612 (GRCm39) missense probably damaging 1.00
IGL01996:Nudcd1 APN 15 44,269,357 (GRCm39) missense probably benign 0.41
R0333:Nudcd1 UTSW 15 44,264,683 (GRCm39) missense probably benign
R0960:Nudcd1 UTSW 15 44,291,047 (GRCm39) unclassified probably benign
R3409:Nudcd1 UTSW 15 44,284,207 (GRCm39) missense probably benign 0.17
R3410:Nudcd1 UTSW 15 44,284,207 (GRCm39) missense probably benign 0.17
R4771:Nudcd1 UTSW 15 44,268,878 (GRCm39) missense probably damaging 0.98
R4970:Nudcd1 UTSW 15 44,240,039 (GRCm39) nonsense probably null
R5112:Nudcd1 UTSW 15 44,240,039 (GRCm39) nonsense probably null
R5789:Nudcd1 UTSW 15 44,251,879 (GRCm39) nonsense probably null
R6353:Nudcd1 UTSW 15 44,284,158 (GRCm39) missense probably damaging 1.00
R7045:Nudcd1 UTSW 15 44,269,226 (GRCm39) missense probably benign 0.00
R7483:Nudcd1 UTSW 15 44,269,253 (GRCm39) missense possibly damaging 0.89
R7742:Nudcd1 UTSW 15 44,268,754 (GRCm39) missense probably benign 0.06
R8949:Nudcd1 UTSW 15 44,251,971 (GRCm39) missense probably benign 0.00
R9066:Nudcd1 UTSW 15 44,243,588 (GRCm39) missense probably damaging 1.00
R9201:Nudcd1 UTSW 15 44,263,473 (GRCm39) missense probably benign 0.00
R9438:Nudcd1 UTSW 15 44,269,321 (GRCm39) missense probably benign 0.15
Z1177:Nudcd1 UTSW 15 44,268,828 (GRCm39) missense probably benign 0.01
Posted On 2013-06-28