Incidental Mutation 'IGL03055:A430005L14Rik'
ID 453379
Institutional Source Beutler Lab
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 # IGL03055 (G1)
Quality Score 93
Status Validated
Chromosome 4
Chromosomal Location 154041694-154046382 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 154045092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 40 (S40R)
Ref Sequence ENSEMBL: ENSMUSP00000101270 (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: S78R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000054638
Gene: ENSMUSG00000047613
AA Change: S78R

DomainStartEndE-ValueType
Pfam:UPF0688 6 228 9.9e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105645
AA Change: S40R

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
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
AA Change: S40R

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000147826
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900041M22Rik T A 11: 117,503,072 (GRCm39) noncoding transcript Het
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Aire A G 10: 77,878,903 (GRCm39) L48P probably damaging Het
Alkbh8 T C 9: 3,345,882 (GRCm39) probably benign Het
Aqp7 A G 4: 41,045,326 (GRCm39) M18T probably benign Het
Cchcr1 T A 17: 35,837,516 (GRCm39) M406K probably benign Het
Cdhr1 A T 14: 36,817,054 (GRCm39) D102E probably benign Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Clec16a T A 16: 10,559,645 (GRCm39) S973T probably damaging Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Csmd1 A G 8: 16,145,515 (GRCm39) Y1471H probably damaging Het
Dnah12 A G 14: 26,594,697 (GRCm39) Y3489C probably damaging Het
Ect2 T C 3: 27,191,211 (GRCm39) E464G probably damaging Het
Enpp2 C A 15: 54,729,481 (GRCm39) probably null Het
Erich2 G T 2: 70,339,529 (GRCm39) C28F possibly damaging Het
Fam135b A T 15: 71,493,883 (GRCm39) H15Q possibly damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Gfral T A 9: 76,115,831 (GRCm39) T48S probably benign Het
Itga10 A G 3: 96,557,836 (GRCm39) E293G probably damaging Het
Lrp2 A T 2: 69,288,792 (GRCm39) N3691K probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nefm T C 14: 68,360,358 (GRCm39) T371A probably damaging Het
Nkain3 C A 4: 20,778,308 (GRCm39) C3F probably benign Het
Nol4l G C 2: 153,278,190 (GRCm39) silent Het
Nprl3 C A 11: 32,198,230 (GRCm39) probably benign Het
Or52p1 A T 7: 104,267,413 (GRCm39) I176F probably damaging Het
Pate2 T C 9: 35,523,069 (GRCm39) probably benign Het
Pde4d A G 13: 110,071,879 (GRCm39) K128R probably damaging Het
Ptprt A G 2: 161,375,533 (GRCm39) L1329P probably damaging Het
Rapgef3 T C 15: 97,647,370 (GRCm39) probably benign Het
Rassf5 T C 1: 131,172,732 (GRCm39) I46V probably benign Het
Rin1 C T 19: 5,103,187 (GRCm39) T481I probably benign Het
Samd4b A G 7: 28,104,971 (GRCm39) L524P possibly damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Srebf1 T C 11: 60,097,902 (GRCm39) silent Het
Ssh2 C T 11: 77,299,021 (GRCm39) Q123* probably null Het
St18 G T 1: 6,872,959 (GRCm39) L231F probably damaging Het
Stk11 A C 10: 79,963,920 (GRCm39) D96A probably damaging Het
Svil A G 18: 5,108,615 (GRCm39) T1918A probably damaging Het
Thrap3 G A 4: 126,059,335 (GRCm39) probably null Het
Tlr1 C A 5: 65,083,939 (GRCm39) V213F probably benign Het
Trappc10 C T 10: 78,050,520 (GRCm39) R307Q probably damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Wnt6 G A 1: 74,822,013 (GRCm39) R198H probably damaging Het
Yipf2 A T 9: 21,501,019 (GRCm39) V98E probably benign Het
Zc3h15 A G 2: 83,491,515 (GRCm39) T248A possibly damaging Het
Zc3hav1 C T 6: 38,293,251 (GRCm39) probably null Het
Zfp697 T G 3: 98,332,810 (GRCm39) C79G possibly 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
IGL02583:A430005L14Rik APN 4 154,045,392 (GRCm39) missense possibly damaging 0.74
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
Predicted Primers PCR Primer
(F):5'- CCCTTAGCAGCAGAACAGACTG -3'
(R):5'- TGCTGTCCATCTGAAGCACG -3'

Sequencing Primer
(F):5'- AATGGGAGCCTCTGGGACTG -3'
(R):5'- TGTCCGGCAGAGCTGTCATC -3'
Posted On 2017-02-03