Incidental Mutation 'IGL01916:A430005L14Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A430005L14Rik
Ensembl Gene ENSMUSG00000047613
Gene NameRIKEN cDNA A430005L14 gene
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01916
Quality Score
Chromosomal Location153957237-153961925 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 153961540 bp
Amino Acid Change Phenylalanine to Leucine at position 214 (F214L)
Ref Sequence ENSEMBL: ENSMUSP00000054638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030893] [ENSMUST00000058393] [ENSMUST00000105645] [ENSMUST00000133607] [ENSMUST00000141493] [ENSMUST00000147826]
Predicted Effect probably benign
Transcript: ENSMUST00000030893
SMART Domains Protein: ENSMUSP00000030893
Gene: ENSMUSG00000029027

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 possibly damaging
Transcript: ENSMUST00000058393
AA Change: F214L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054638
Gene: ENSMUSG00000047613
AA Change: F214L

Pfam:UPF0688 6 228 9.9e-99 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000105645
AA Change: F176L

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133524
Predicted Effect probably benign
Transcript: ENSMUST00000133607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139967
Predicted Effect probably benign
Transcript: ENSMUST00000141493
Predicted Effect probably benign
Transcript: ENSMUST00000147826
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,794,111 T187A probably damaging Het
A830018L16Rik C A 1: 11,748,107 probably benign Het
Adgrd1 T C 5: 129,132,838 S342P probably benign Het
Aldh4a1 A G 4: 139,644,146 Y457C probably damaging Het
Ankrd7 A T 6: 18,868,251 E124V possibly damaging Het
Atad5 T A 11: 80,112,839 probably null Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Card14 T C 11: 119,343,145 Y854H probably benign Het
Ccdc85c T C 12: 108,207,844 H355R probably damaging Het
Ccr3 T A 9: 124,029,552 V308D probably damaging Het
Cep170 T C 1: 176,739,910 probably benign Het
Cmtr2 C A 8: 110,221,948 Q297K probably benign Het
Col19a1 A C 1: 24,534,241 L150R unknown Het
Cwf19l2 T C 9: 3,477,869 I858T possibly damaging Het
Cyp39a1 C T 17: 43,731,050 P383S probably damaging Het
Ddi2 C T 4: 141,695,398 probably benign Het
Dnah17 T G 11: 118,125,288 I342L probably benign Het
Efhc1 T C 1: 20,978,749 I462T probably damaging Het
Ephx4 A T 5: 107,406,030 probably null Het
Fam193b A G 13: 55,550,218 probably benign Het
Fbn1 T C 2: 125,315,446 N2306D possibly damaging Het
Folr1 A T 7: 101,858,740 H164Q probably benign Het
Fut10 T C 8: 31,235,706 V163A probably benign Het
Gal3st4 G A 5: 138,270,935 R83C probably damaging Het
Galnt16 T C 12: 80,592,490 probably null Het
Gata5 G A 2: 180,326,941 S380F possibly damaging Het
Gm1966 T G 7: 106,601,826 H737P probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4787 A T 12: 81,377,444 L647M probably benign Het
Hcfc2 A G 10: 82,734,383 K523E possibly damaging Het
Igkv6-15 A T 6: 70,406,474 Y114* probably null Het
Il10ra A T 9: 45,256,146 L369Q probably damaging Het
Il6st A G 13: 112,480,072 K51R possibly damaging Het
Kif26a C T 12: 112,176,894 P1194L possibly damaging Het
Kntc1 T G 5: 123,801,913 L1590R probably damaging Het
Lipo1 G T 19: 33,784,782 A105E probably damaging Het
Macf1 T A 4: 123,441,630 S4382C probably damaging Het
Macf1 C T 4: 123,476,037 E79K probably damaging Het
Nmnat2 T C 1: 153,094,046 I195T probably damaging Het
Olfr741 A G 14: 50,485,493 T12A probably benign Het
Pcdhb13 A G 18: 37,443,861 T431A possibly damaging Het
Pcgf3 G A 5: 108,486,179 G101D probably benign Het
Phip T C 9: 82,890,469 D1070G possibly damaging Het
Ren1 A G 1: 133,358,412 H231R probably benign Het
Sox9 C A 11: 112,784,674 Q230K probably benign Het
Stard9 T A 2: 120,668,016 Y154N probably damaging Het
Thnsl1 A T 2: 21,212,665 N410I possibly damaging Het
Tnfrsf21 A T 17: 43,039,803 E286V probably benign Het
Trbv13-1 A G 6: 41,116,312 R60G probably damaging Het
Ttc30a1 C A 2: 75,980,879 V287L probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wrn T A 8: 33,257,224 I1110F possibly damaging Het
Zfp777 G T 6: 48,025,342 R649S probably damaging Het
Zmym6 T A 4: 127,123,756 I1110N probably damaging Het
Other mutations in A430005L14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01628:A430005L14Rik APN 4 153960979 missense probably damaging 1.00
IGL02583:A430005L14Rik APN 4 153960935 missense possibly damaging 0.74
IGL03055:A430005L14Rik UTSW 4 153960635 missense probably benign 0.06
R1677:A430005L14Rik UTSW 4 153960900 missense probably damaging 0.97
R2001:A430005L14Rik UTSW 4 153959857 missense probably damaging 1.00
R5329:A430005L14Rik UTSW 4 153959827 missense probably benign 0.01
R5396:A430005L14Rik UTSW 4 153960953 frame shift probably null
R6422:A430005L14Rik UTSW 4 153960924 missense probably damaging 1.00
R7082:A430005L14Rik UTSW 4 153959764 missense probably damaging 1.00
R7092:A430005L14Rik UTSW 4 153960994 critical splice donor site probably null
R7561:A430005L14Rik UTSW 4 153960640 missense probably benign 0.01
Posted On2014-05-07