Incidental Mutation 'R5019:Nalf1'
ID 389095
Institutional Source Beutler Lab
Gene Symbol Nalf1
Ensembl Gene ENSMUSG00000079157
Gene Name NALCN channel auxiliary factor 1
Synonyms Fam155a
MMRRC Submission 042610-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R5019 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 9255902-9821161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9820240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 260 (V260A)
Ref Sequence ENSEMBL: ENSMUSP00000146609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110969] [ENSMUST00000208933]
AlphaFold Q8CCS2
Predicted Effect probably benign
Transcript: ENSMUST00000110969
AA Change: V260A

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106596
Gene: ENSMUSG00000079157
AA Change: V260A

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: ENSMUST00000196300
Predicted Effect probably benign
Transcript: ENSMUST00000207869
Predicted Effect probably benign
Transcript: ENSMUST00000208933
AA Change: V260A

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
Meta Mutation Damage Score 0.0915 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 92% (35/38)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C A 11: 110,056,760 (GRCm39) W20L probably benign Het
Adamts17 T A 7: 66,711,818 (GRCm39) Y81* probably null Het
Add3 A G 19: 53,231,002 (GRCm39) E559G probably damaging Het
Ahcyl2 A T 6: 29,859,738 (GRCm39) K6M possibly damaging Het
Asb3 A T 11: 31,031,415 (GRCm39) N345I possibly damaging Het
Carm1 T C 9: 21,490,807 (GRCm39) probably null Het
Ip6k2 T A 9: 108,674,945 (GRCm39) probably benign Het
Kdm4c T C 4: 74,261,772 (GRCm39) L649P probably damaging Het
Klra5 T C 6: 129,876,352 (GRCm39) T152A probably benign Het
Mars2 T C 1: 55,276,468 (GRCm39) S24P possibly damaging Het
Mfap2 A T 4: 140,742,569 (GRCm39) T142S probably damaging Het
Miga1 A C 3: 152,028,098 (GRCm39) S144A possibly damaging Het
Or2l5 A T 16: 19,334,285 (GRCm39) F34I probably damaging Het
Or4d2b A G 11: 87,779,801 (GRCm39) V307A probably benign Het
Pate12 C A 9: 36,343,198 (GRCm39) Q7K probably benign Het
Pcdhgb6 A G 18: 37,875,994 (GRCm39) D234G probably damaging Het
Pclo A G 5: 14,764,381 (GRCm39) N4285D unknown Het
Pex1 T C 5: 3,672,331 (GRCm39) S725P probably damaging Het
Pigg A G 5: 108,480,015 (GRCm39) Y430C probably damaging Het
Plcb2 A T 2: 118,542,617 (GRCm39) L818Q probably benign Het
Psmd5 A G 2: 34,755,965 (GRCm39) probably benign Het
Skint8 T C 4: 111,785,845 (GRCm39) V97A probably damaging Het
Tfap2b T C 1: 19,296,666 (GRCm39) V185A probably benign Het
Trim27 T C 13: 21,374,134 (GRCm39) F294L probably damaging Het
Trp53bp1 A T 2: 121,100,800 (GRCm39) probably null Het
Ttc28 T A 5: 111,249,930 (GRCm39) H293Q possibly damaging Het
Xkr5 T C 8: 18,992,126 (GRCm39) T88A probably benign Het
Xkr6 T G 14: 64,056,515 (GRCm39) I142S unknown Het
Zfp618 T C 4: 63,021,789 (GRCm39) Y252H probably damaging Het
Zfp790 C T 7: 29,529,192 (GRCm39) H626Y probably benign Het
Zfp809 A G 9: 22,148,998 (GRCm39) D84G probably benign 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
IGL02817:Nalf1 APN 8 9,257,994 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGATTAAACTTACAAAACCGGAGCC -3'
(R):5'- GCGCCTAGAGACTTGTTACC -3'

Sequencing Primer
(F):5'- AAAGGAACCCGCTGTGC -3'
(R):5'- TAGAGACTTGTTACCCCCAGG -3'
Posted On 2016-06-06