Incidental Mutation 'IGL02583:A430005L14Rik'
ID 299434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A430005L14Rik
Ensembl Gene ENSMUSG00000047613
Gene Name RIKEN cDNA A430005L14 gene
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02583
Quality Score
Status
Chromosome 4
Chromosomal Location 154041694-154046382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 154045392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 140 (D140E)
Ref Sequence ENSEMBL: ENSMUSP00000121891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030893] [ENSMUST00000058393] [ENSMUST00000105645] [ENSMUST00000133607] [ENSMUST00000141493] [ENSMUST00000147826]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030893
SMART Domains Protein: ENSMUSP00000030893
Gene: ENSMUSG00000029027

DomainStartEndE-ValueType
CAD 9 81 2.48e-41 SMART
Pfam:DFF40 103 324 9.4e-97 PFAM
low complexity region 330 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000058393
AA Change: D178E

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000054638
Gene: ENSMUSG00000047613
AA Change: D178E

DomainStartEndE-ValueType
Pfam:UPF0688 6 228 9.9e-99 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105645
AA Change: D140E

PolyPhen 2 Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133524
Predicted Effect probably benign
Transcript: ENSMUST00000133607
Predicted Effect possibly damaging
Transcript: ENSMUST00000141493
AA Change: D140E

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139967
Predicted Effect probably benign
Transcript: ENSMUST00000147826
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930584F24Rik C T 5: 26,684,717 (GRCm39) noncoding transcript Het
Bod1l C T 5: 41,973,550 (GRCm39) probably null Het
Brms1 T A 19: 5,096,206 (GRCm39) V61D probably damaging Het
Card11 A T 5: 140,863,881 (GRCm39) N952K probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cimap2 A T 4: 106,468,602 (GRCm39) probably benign Het
Col15a1 T C 4: 47,279,866 (GRCm39) V697A probably benign Het
Col7a1 A T 9: 108,791,297 (GRCm39) I1118F unknown Het
Cyfip2 T C 11: 46,140,585 (GRCm39) E746G possibly damaging Het
Dach1 A G 14: 98,065,830 (GRCm39) probably benign Het
Dock11 G T X: 35,270,370 (GRCm39) G1023W possibly damaging Het
Fbxo10 T C 4: 45,044,754 (GRCm39) D453G probably damaging Het
Fhad1 T C 4: 141,738,955 (GRCm39) probably benign Het
Gm17415 A G 1: 93,349,801 (GRCm39) probably benign Het
Gm4781 A T 10: 100,232,507 (GRCm39) noncoding transcript Het
Gpatch2 A C 1: 186,965,514 (GRCm39) probably null Het
Gpatch2 G T 1: 186,965,515 (GRCm39) probably null Het
Greb1 A G 12: 16,756,296 (GRCm39) probably benign Het
Greb1l A G 18: 10,542,362 (GRCm39) Y1319C probably damaging Het
Ice1 C T 13: 70,753,854 (GRCm39) R744H possibly damaging Het
Kcnq2 T A 2: 180,723,295 (GRCm39) S694C probably benign Het
Krt35 C A 11: 99,983,360 (GRCm39) V448L possibly damaging Het
Lmo7 A G 14: 102,171,360 (GRCm39) probably benign Het
Megf8 T C 7: 25,055,218 (GRCm39) S1984P probably benign Het
Nlrp1a T C 11: 71,014,227 (GRCm39) Q341R probably benign Het
Or1p1 T A 11: 74,180,330 (GRCm39) L286Q probably damaging Het
Or51a6 T C 7: 102,603,918 (GRCm39) T297A possibly damaging Het
Osr1 C T 12: 9,629,675 (GRCm39) H183Y probably damaging Het
Paf1 T C 7: 28,095,596 (GRCm39) V202A probably damaging Het
Pde10a A G 17: 9,200,462 (GRCm39) K1071E probably benign Het
Pwp2 T C 10: 78,016,917 (GRCm39) R268G probably benign Het
Rwdd1 T A 10: 33,877,669 (GRCm39) K178* probably null Het
Scn10a A T 9: 119,520,506 (GRCm39) probably benign Het
Sema3g A G 14: 30,943,476 (GRCm39) probably null Het
Slc22a6 C A 19: 8,600,980 (GRCm39) A391E possibly damaging Het
Slc41a3 G A 6: 90,621,153 (GRCm39) G372S probably damaging Het
Sqor G T 2: 122,641,690 (GRCm39) K3N probably damaging Het
Srl T C 16: 4,310,244 (GRCm39) Q495R possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stxbp3 G T 3: 108,708,187 (GRCm39) D371E probably damaging Het
Tnfrsf19 C A 14: 61,261,659 (GRCm39) V47F probably damaging Het
Usp11 A T X: 20,584,284 (GRCm39) E622V probably benign Het
Vmn1r52 T A 6: 90,156,126 (GRCm39) Y143* probably null Het
Zfp280d A G 9: 72,229,727 (GRCm39) probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zmat1 T C X: 133,874,021 (GRCm39) T457A probably damaging Het
Other mutations in A430005L14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01628:A430005L14Rik APN 4 154,045,436 (GRCm39) missense probably damaging 1.00
IGL01916:A430005L14Rik APN 4 154,045,997 (GRCm39) missense possibly damaging 0.87
IGL03055:A430005L14Rik UTSW 4 154,045,092 (GRCm39) missense probably benign 0.06
R1677:A430005L14Rik UTSW 4 154,045,357 (GRCm39) missense probably damaging 0.97
R2001:A430005L14Rik UTSW 4 154,044,314 (GRCm39) missense probably damaging 1.00
R5329:A430005L14Rik UTSW 4 154,044,284 (GRCm39) missense probably benign 0.01
R5396:A430005L14Rik UTSW 4 154,045,410 (GRCm39) frame shift probably null
R6422:A430005L14Rik UTSW 4 154,045,381 (GRCm39) missense probably damaging 1.00
R7082:A430005L14Rik UTSW 4 154,044,221 (GRCm39) missense probably damaging 1.00
R7092:A430005L14Rik UTSW 4 154,045,451 (GRCm39) critical splice donor site probably null
R7561:A430005L14Rik UTSW 4 154,045,097 (GRCm39) missense probably benign 0.01
Z1176:A430005L14Rik UTSW 4 154,045,122 (GRCm39) frame shift probably null
Posted On 2015-04-16