Incidental Mutation 'IGL00927:Ndc1'
ID 27249
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ndc1
Ensembl Gene ENSMUSG00000028614
Gene Name NDC1 transmembrane nucleoporin
Synonyms sks, 2810475A17Rik, Tmem48
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # IGL00927
Quality Score
Status
Chromosome 4
Chromosomal Location 107225244-107273543 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 107241977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030357] [ENSMUST00000125342] [ENSMUST00000139560] [ENSMUST00000149366]
AlphaFold Q8VCB1
Predicted Effect probably benign
Transcript: ENSMUST00000030357
Predicted Effect probably benign
Transcript: ENSMUST00000125342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132950
Predicted Effect probably benign
Transcript: ENSMUST00000139560
SMART Domains Protein: ENSMUSP00000120365
Gene: ENSMUSG00000028614

DomainStartEndE-ValueType
Pfam:Ndc1_Nup 20 666 1.7e-137 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149366
SMART Domains Protein: ENSMUSP00000137180
Gene: ENSMUSG00000028614

DomainStartEndE-ValueType
Pfam:Ndc1_Nup 19 511 3.7e-136 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150800
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutations in this gene produce background sensitive growth rates and skeletal anomalies. Both females and males are sterile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,674 (GRCm39) T92A probably damaging Het
Ankhd1 A G 18: 36,765,125 (GRCm39) S1007G probably benign Het
Cabp4 A T 19: 4,189,406 (GRCm39) S50R possibly damaging Het
Camp A T 9: 109,678,336 (GRCm39) L56Q probably damaging Het
Cblb A G 16: 51,986,461 (GRCm39) N568S probably benign Het
Ccr6 C A 17: 8,474,825 (GRCm39) T10K probably benign Het
Chit1 T C 1: 134,072,992 (GRCm39) F106S probably damaging Het
Cyb561d1 A G 3: 108,106,943 (GRCm39) L34P probably damaging Het
Dcun1d1 A T 3: 35,975,114 (GRCm39) probably benign Het
Deup1 A G 9: 15,521,967 (GRCm39) probably benign Het
Erich1 A G 8: 14,083,518 (GRCm39) F184S probably damaging Het
Fmnl3 A G 15: 99,235,509 (GRCm39) probably null Het
Grk2 T C 19: 4,337,982 (GRCm39) N508S probably benign Het
Herc4 A G 10: 63,109,316 (GRCm39) I184V probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift56 T C 6: 38,359,155 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,381 (GRCm39) A61T possibly damaging Het
Kmt2d G A 15: 98,742,890 (GRCm39) probably benign Het
Lrrc7 C A 3: 157,866,727 (GRCm39) V1005L possibly damaging Het
Lrrtm1 A T 6: 77,221,046 (GRCm39) M168L probably benign Het
Nphs1 A G 7: 30,160,164 (GRCm39) probably benign Het
Or52w1 A T 7: 105,018,454 (GRCm39) Y298F probably damaging Het
Pbld2 T C 10: 62,907,734 (GRCm39) V200A probably benign Het
Pcdhb21 A G 18: 37,647,606 (GRCm39) Y245C probably damaging Het
Pcm1 A G 8: 41,740,918 (GRCm39) T1055A probably damaging Het
Plcl2 C T 17: 50,913,948 (GRCm39) S319L probably benign Het
Plekha8 C A 6: 54,606,822 (GRCm39) Y372* probably null Het
Ralb T A 1: 119,399,506 (GRCm39) N184I probably benign Het
Robo3 C T 9: 37,339,050 (GRCm39) probably null Het
Slc41a1 T A 1: 131,766,914 (GRCm39) L144H probably damaging Het
Smg1 C T 7: 117,739,855 (GRCm39) G3364D probably damaging Het
Spmap2 A G 10: 79,412,433 (GRCm39) S329P probably damaging Het
Vmn1r123 T A 7: 20,896,216 (GRCm39) V36D possibly damaging Het
Zbtb7c T C 18: 76,278,921 (GRCm39) S460P possibly damaging Het
Zscan30 T C 18: 24,104,834 (GRCm39) noncoding transcript Het
Other mutations in Ndc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Ndc1 APN 4 107,246,694 (GRCm39) missense probably benign 0.23
IGL01340:Ndc1 APN 4 107,231,344 (GRCm39) missense probably damaging 1.00
IGL01376:Ndc1 APN 4 107,232,394 (GRCm39) missense probably damaging 1.00
IGL01954:Ndc1 APN 4 107,253,001 (GRCm39) missense probably damaging 1.00
IGL02290:Ndc1 APN 4 107,252,192 (GRCm39) splice site probably benign
IGL03251:Ndc1 APN 4 107,237,856 (GRCm39) missense possibly damaging 0.50
R1168:Ndc1 UTSW 4 107,253,009 (GRCm39) missense probably benign 0.02
R1541:Ndc1 UTSW 4 107,228,485 (GRCm39) nonsense probably null
R1605:Ndc1 UTSW 4 107,225,293 (GRCm39) missense probably damaging 0.96
R1612:Ndc1 UTSW 4 107,252,265 (GRCm39) splice site probably benign
R1716:Ndc1 UTSW 4 107,241,992 (GRCm39) missense probably damaging 1.00
R3522:Ndc1 UTSW 4 107,250,355 (GRCm39) missense probably damaging 0.99
R4036:Ndc1 UTSW 4 107,268,269 (GRCm39) missense probably benign 0.22
R4698:Ndc1 UTSW 4 107,268,334 (GRCm39) missense probably benign 0.06
R4794:Ndc1 UTSW 4 107,247,419 (GRCm39) missense probably benign 0.03
R5053:Ndc1 UTSW 4 107,231,415 (GRCm39) missense probably damaging 1.00
R5097:Ndc1 UTSW 4 107,231,358 (GRCm39) missense probably benign 0.01
R5158:Ndc1 UTSW 4 107,232,362 (GRCm39) missense probably damaging 1.00
R5217:Ndc1 UTSW 4 107,246,773 (GRCm39) missense probably benign
R5579:Ndc1 UTSW 4 107,237,901 (GRCm39) missense possibly damaging 0.74
R5666:Ndc1 UTSW 4 107,246,723 (GRCm39) missense possibly damaging 0.52
R5855:Ndc1 UTSW 4 107,240,904 (GRCm39) missense probably damaging 1.00
R6180:Ndc1 UTSW 4 107,268,395 (GRCm39) missense possibly damaging 0.65
R6525:Ndc1 UTSW 4 107,225,304 (GRCm39) missense probably benign 0.01
R8065:Ndc1 UTSW 4 107,247,595 (GRCm39) missense probably benign 0.01
R8067:Ndc1 UTSW 4 107,247,595 (GRCm39) missense probably benign 0.01
R8100:Ndc1 UTSW 4 107,240,802 (GRCm39) missense possibly damaging 0.94
R8428:Ndc1 UTSW 4 107,226,017 (GRCm39) missense probably benign 0.00
R8952:Ndc1 UTSW 4 107,247,623 (GRCm39) missense probably benign 0.00
R8953:Ndc1 UTSW 4 107,238,890 (GRCm39) missense probably damaging 1.00
R9489:Ndc1 UTSW 4 107,247,863 (GRCm39) critical splice donor site probably null
R9606:Ndc1 UTSW 4 107,246,686 (GRCm39) missense probably damaging 0.97
Z1176:Ndc1 UTSW 4 107,243,799 (GRCm39) missense probably damaging 0.99
Posted On 2013-04-17