Incidental Mutation 'IGL02817:Nalf1'
ID 360843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nalf1
Ensembl Gene ENSMUSG00000079157
Gene Name NALCN channel auxiliary factor 1
Synonyms Fam155a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # IGL02817
Quality Score
Status
Chromosome 8
Chromosomal Location 9255902-9821161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9257994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 385 (C385S)
Ref Sequence ENSEMBL: ENSMUSP00000106596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110969] [ENSMUST00000208933]
AlphaFold Q8CCS2
Predicted Effect probably damaging
Transcript: ENSMUST00000110969
AA Change: C385S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106596
Gene: ENSMUSG00000079157
AA Change: C385S

DomainStartEndE-ValueType
low complexity region 74 110 N/A INTRINSIC
low complexity region 132 164 N/A INTRINSIC
low complexity region 426 440 N/A INTRINSIC
low complexity region 449 459 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208855
Predicted Effect probably benign
Transcript: ENSMUST00000208933
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 A G 2: 34,990,661 (GRCm39) V12A probably damaging Het
Ash1l C A 3: 88,892,108 (GRCm39) P1329H probably damaging Het
Bpifb3 T C 2: 153,761,566 (GRCm39) V5A unknown Het
Cep350 A G 1: 155,804,588 (GRCm39) S832P probably damaging Het
Chd1 A T 17: 15,969,762 (GRCm39) H947L possibly damaging Het
Clec4b1 A T 6: 123,045,444 (GRCm39) H88L possibly damaging Het
Col4a1 A G 8: 11,270,259 (GRCm39) L859P probably damaging Het
Cyp2f2 T A 7: 26,828,740 (GRCm39) N203K probably damaging Het
Dgka G A 10: 128,566,097 (GRCm39) T351I probably benign Het
Dmc1 G A 15: 79,472,964 (GRCm39) T161I probably damaging Het
Dnah8 A G 17: 30,887,269 (GRCm39) N688D probably benign Het
Dpy19l3 A G 7: 35,392,233 (GRCm39) L653P probably damaging Het
Drc3 A G 11: 60,275,062 (GRCm39) E341G probably benign Het
Fcrl5 T G 3: 87,343,220 (GRCm39) V10G probably benign Het
Fgfr4 T C 13: 55,304,481 (GRCm39) probably null Het
Gli2 T C 1: 118,764,101 (GRCm39) H1350R possibly damaging Het
Gm3248 A G 14: 5,945,825 (GRCm38) S30P probably benign Het
Grik4 T C 9: 42,534,235 (GRCm39) N349S probably benign Het
Ifnar2 G T 16: 91,184,880 (GRCm39) K90N probably benign Het
Kcp A T 6: 29,496,968 (GRCm39) I547N probably damaging Het
L3mbtl4 A T 17: 68,937,249 (GRCm39) E423D probably benign Het
Mapkap1 T C 2: 34,453,130 (GRCm39) L341P probably damaging Het
Mdm1 A G 10: 118,000,251 (GRCm39) Q618R possibly damaging Het
Medag A T 5: 149,350,503 (GRCm39) R51* probably null Het
Myo1f G A 17: 33,823,532 (GRCm39) R1020K probably benign Het
Myrf T C 19: 10,202,816 (GRCm39) N153D probably benign Het
Naf1 T C 8: 67,336,177 (GRCm39) I368T probably damaging Het
Ncapd2 A G 6: 125,147,877 (GRCm39) probably null Het
Nsfl1c T A 2: 151,342,651 (GRCm39) S74T probably damaging Het
Or2a51 A T 6: 43,178,993 (GRCm39) R138S probably benign Het
Or6c68 A G 10: 129,157,764 (GRCm39) T91A probably benign Het
Or8h7 T C 2: 86,720,937 (GRCm39) N194S probably benign Het
Ptgfrn T A 3: 100,968,068 (GRCm39) E508D probably benign Het
Ryr3 C A 2: 112,674,968 (GRCm39) probably null Het
Snx27 A G 3: 94,410,770 (GRCm39) L460P probably damaging Het
Sp4 G T 12: 118,263,287 (GRCm39) T253K probably damaging Het
Trio T C 15: 27,902,967 (GRCm39) I165V probably benign Het
Txnl4b A G 8: 110,299,478 (GRCm39) Y146C probably damaging Het
Vmn1r42 A G 6: 89,822,518 (GRCm39) M17T probably damaging Het
Zer1 T C 2: 29,993,406 (GRCm39) I567V probably damaging Het
Other mutations in Nalf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01860:Nalf1 APN 8 9,257,831 (GRCm39) missense probably damaging 1.00
IGL02513:Nalf1 APN 8 9,257,930 (GRCm39) missense probably benign 0.44
IGL03194:Nalf1 APN 8 9,282,975 (GRCm39) missense probably damaging 1.00
R0842:Nalf1 UTSW 8 9,820,114 (GRCm39) missense probably benign 0.26
R1928:Nalf1 UTSW 8 9,820,217 (GRCm39) missense probably benign
R2004:Nalf1 UTSW 8 9,820,607 (GRCm39) missense probably benign 0.00
R4155:Nalf1 UTSW 8 9,283,023 (GRCm39) missense possibly damaging 0.87
R4783:Nalf1 UTSW 8 9,258,026 (GRCm39) missense probably damaging 1.00
R5019:Nalf1 UTSW 8 9,820,240 (GRCm39) missense probably benign 0.13
R5333:Nalf1 UTSW 8 9,820,762 (GRCm39) missense possibly damaging 0.46
R6798:Nalf1 UTSW 8 9,820,205 (GRCm39) nonsense probably null
R6956:Nalf1 UTSW 8 9,820,744 (GRCm39) missense probably benign 0.36
R7034:Nalf1 UTSW 8 9,820,589 (GRCm39) missense possibly damaging 0.95
R8039:Nalf1 UTSW 8 9,257,892 (GRCm39) missense probably benign 0.03
R8382:Nalf1 UTSW 8 9,257,972 (GRCm39) missense probably benign 0.05
R9299:Nalf1 UTSW 8 9,820,156 (GRCm39) missense probably damaging 1.00
R9342:Nalf1 UTSW 8 9,821,006 (GRCm39) missense probably damaging 0.99
R9658:Nalf1 UTSW 8 9,820,114 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18