Incidental Mutation 'R6692:Nedd1'
ID 527920
Institutional Source Beutler Lab
Gene Symbol Nedd1
Ensembl Gene ENSMUSG00000019988
Gene Name neural precursor cell expressed, developmentally down-regulated gene 1
Synonyms
MMRRC Submission 044810-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R6692 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 92520608-92558282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92534199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 317 (K317R)
Ref Sequence ENSEMBL: ENSMUSP00000020163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020163]
AlphaFold P33215
Predicted Effect possibly damaging
Transcript: ENSMUST00000020163
AA Change: K317R

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020163
Gene: ENSMUSG00000019988
AA Change: K317R

DomainStartEndE-ValueType
WD40 21 63 5.97e-1 SMART
WD40 67 105 9.75e-3 SMART
WD40 108 147 6.19e-5 SMART
WD40 149 191 6.42e-1 SMART
WD40 194 235 9.1e-3 SMART
WD40 238 276 2.24e-2 SMART
low complexity region 555 568 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214417
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215970
Meta Mutation Damage Score 0.0594 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcyl1 C T 3: 107,582,401 (GRCm39) G54D probably damaging Het
Aldh1b1 T C 4: 45,803,427 (GRCm39) C322R probably damaging Het
Cdc14b T C 13: 64,363,377 (GRCm39) I258V probably damaging Het
Cenph T C 13: 100,909,243 (GRCm39) I55V probably benign Het
Cep290 T A 10: 100,405,006 (GRCm39) probably null Het
Ces2b A G 8: 105,563,919 (GRCm39) Y431C probably damaging Het
Cyp4f17 T C 17: 32,725,950 (GRCm39) S28P possibly damaging Het
Cyp4f40 C G 17: 32,894,716 (GRCm39) T427S possibly damaging Het
Exoc2 A G 13: 31,119,490 (GRCm39) I137T probably benign Het
Fam168b C A 1: 34,875,822 (GRCm39) G21V probably damaging Het
G3bp1 T A 11: 55,384,335 (GRCm39) D168E probably benign Het
Impg2 T A 16: 56,072,696 (GRCm39) L376H probably damaging Het
Kdm4d A T 9: 14,374,361 (GRCm39) M499K probably benign Het
Lonp1 C T 17: 56,926,230 (GRCm39) V426M probably damaging Het
Lypla2 C A 4: 135,698,173 (GRCm39) A26S probably benign Het
Map3k13 T C 16: 21,723,987 (GRCm39) V323A possibly damaging Het
Mdfic2 T G 6: 98,225,169 (GRCm39) H38P possibly damaging Het
Mov10 A G 3: 104,725,360 (GRCm39) L83P probably damaging Het
Mphosph9 G T 5: 124,398,179 (GRCm39) A1039D probably damaging Het
Or10ag55-ps1 A G 2: 87,139,336 (GRCm39) T68A possibly damaging Het
Pde3a T A 6: 141,425,072 (GRCm39) S623T probably damaging Het
Pld1 T A 3: 28,095,348 (GRCm39) M227K probably benign Het
Rell1 T G 5: 64,095,210 (GRCm39) K85N probably damaging Het
Rhbdf1 T C 11: 32,165,652 (GRCm39) T93A probably damaging Het
Sccpdh T A 1: 179,511,792 (GRCm39) M88K possibly damaging Het
Siae T G 9: 37,554,095 (GRCm39) probably null Het
Slc22a16 G A 10: 40,479,901 (GRCm39) E637K unknown Het
Stk19 C T 17: 35,043,770 (GRCm39) G95S probably benign Het
Stpg2 G A 3: 139,228,738 (GRCm39) probably null Het
Sult2a5 T A 7: 13,358,057 (GRCm39) F30I probably damaging Het
Svil A G 18: 5,082,853 (GRCm39) E748G probably damaging Het
Swap70 T A 7: 109,869,126 (GRCm39) H306Q probably benign Het
Try10 G A 6: 41,334,755 (GRCm39) G227D probably damaging Het
Ttn T C 2: 76,726,713 (GRCm39) probably benign Het
Ttn T A 2: 76,749,436 (GRCm39) H3871L probably benign Het
Vmn1r231 T C 17: 21,110,745 (GRCm39) I57V possibly damaging Het
Vpreb1a A G 16: 16,686,666 (GRCm39) S75P probably damaging Het
Zkscan5 A G 5: 145,157,894 (GRCm39) probably null Het
Other mutations in Nedd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00764:Nedd1 APN 10 92,530,836 (GRCm39) splice site probably benign
IGL00988:Nedd1 APN 10 92,525,548 (GRCm39) missense possibly damaging 0.71
IGL01563:Nedd1 APN 10 92,534,031 (GRCm39) critical splice donor site probably null
IGL01588:Nedd1 APN 10 92,522,124 (GRCm39) missense probably benign 0.12
IGL01988:Nedd1 APN 10 92,550,021 (GRCm39) missense probably benign 0.39
IGL02706:Nedd1 APN 10 92,522,147 (GRCm39) missense possibly damaging 0.88
IGL02938:Nedd1 APN 10 92,525,519 (GRCm39) nonsense probably null
IGL03011:Nedd1 APN 10 92,525,503 (GRCm39) missense possibly damaging 0.92
Brainless UTSW 10 92,526,635 (GRCm39) missense probably benign 0.01
R0125:Nedd1 UTSW 10 92,527,791 (GRCm39) missense possibly damaging 0.93
R0173:Nedd1 UTSW 10 92,534,745 (GRCm39) missense probably benign 0.30
R0244:Nedd1 UTSW 10 92,552,127 (GRCm39) intron probably benign
R0645:Nedd1 UTSW 10 92,527,693 (GRCm39) splice site probably null
R0791:Nedd1 UTSW 10 92,555,476 (GRCm39) missense probably damaging 1.00
R1490:Nedd1 UTSW 10 92,536,660 (GRCm39) missense probably damaging 1.00
R1522:Nedd1 UTSW 10 92,555,476 (GRCm39) missense probably damaging 1.00
R1797:Nedd1 UTSW 10 92,534,601 (GRCm39) missense possibly damaging 0.46
R1984:Nedd1 UTSW 10 92,550,022 (GRCm39) missense possibly damaging 0.63
R2474:Nedd1 UTSW 10 92,555,465 (GRCm39) missense probably damaging 0.99
R2877:Nedd1 UTSW 10 92,549,988 (GRCm39) missense possibly damaging 0.89
R2883:Nedd1 UTSW 10 92,530,860 (GRCm39) missense probably damaging 0.98
R4694:Nedd1 UTSW 10 92,555,444 (GRCm39) missense probably benign 0.00
R4798:Nedd1 UTSW 10 92,534,772 (GRCm39) missense probably benign 0.00
R4830:Nedd1 UTSW 10 92,522,120 (GRCm39) missense probably damaging 1.00
R4963:Nedd1 UTSW 10 92,530,893 (GRCm39) missense probably damaging 1.00
R5174:Nedd1 UTSW 10 92,547,074 (GRCm39) missense possibly damaging 0.77
R5329:Nedd1 UTSW 10 92,522,102 (GRCm39) missense probably damaging 1.00
R5404:Nedd1 UTSW 10 92,552,054 (GRCm39) missense probably benign 0.04
R5534:Nedd1 UTSW 10 92,530,894 (GRCm39) missense probably benign 0.01
R6045:Nedd1 UTSW 10 92,530,962 (GRCm39) nonsense probably null
R6154:Nedd1 UTSW 10 92,534,104 (GRCm39) missense possibly damaging 0.65
R6512:Nedd1 UTSW 10 92,527,737 (GRCm39) missense probably benign
R6693:Nedd1 UTSW 10 92,534,199 (GRCm39) missense possibly damaging 0.88
R6943:Nedd1 UTSW 10 92,547,168 (GRCm39) missense probably damaging 1.00
R7011:Nedd1 UTSW 10 92,526,635 (GRCm39) missense probably benign 0.01
R7406:Nedd1 UTSW 10 92,547,185 (GRCm39) splice site probably null
R7455:Nedd1 UTSW 10 92,536,787 (GRCm39) missense probably benign 0.01
R7587:Nedd1 UTSW 10 92,534,592 (GRCm39) missense probably benign 0.01
R7745:Nedd1 UTSW 10 92,550,034 (GRCm39) missense probably benign
R8104:Nedd1 UTSW 10 92,527,778 (GRCm39) missense probably damaging 1.00
R8209:Nedd1 UTSW 10 92,527,797 (GRCm39) missense probably benign
R8226:Nedd1 UTSW 10 92,527,797 (GRCm39) missense probably benign
R8925:Nedd1 UTSW 10 92,558,258 (GRCm39) start gained probably benign
R8927:Nedd1 UTSW 10 92,558,258 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TAAGAGTTCCGTAACAAGGCAG -3'
(R):5'- TAGAGCAAAGTTCAGATATAGCAGC -3'

Sequencing Primer
(F):5'- TCTCTGACATAAGCAACATTACCTG -3'
(R):5'- GTTCAGATATAGCAGCAATCTTCAG -3'
Posted On 2018-07-23