Incidental Mutation 'R2995:4931406B18Rik'
ID 257172
Institutional Source Beutler Lab
Gene Symbol 4931406B18Rik
Ensembl Gene ENSMUSG00000013353
Gene Name RIKEN cDNA 4931406B18 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R2995 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 43141468-43155364 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43148792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 43 (C43R)
Ref Sequence ENSEMBL: ENSMUSP00000131071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013497] [ENSMUST00000163474] [ENSMUST00000163619] [ENSMUST00000168213] [ENSMUST00000168883] [ENSMUST00000171174] [ENSMUST00000191516]
AlphaFold A2RSL7
Predicted Effect probably damaging
Transcript: ENSMUST00000013497
AA Change: C140R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000013497
Gene: ENSMUSG00000013353
AA Change: C140R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
PDB:2ZG3|A 24 185 9e-7 PDB
Blast:IG_like 119 185 3e-19 BLAST
low complexity region 186 205 N/A INTRINSIC
SCOP:d1iray3 219 297 6e-3 SMART
transmembrane domain 311 333 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163474
SMART Domains Protein: ENSMUSP00000126619
Gene: ENSMUSG00000013353

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:IG_like 23 111 3e-12 BLAST
SCOP:d1he7a_ 111 203 1e-3 SMART
Blast:IG_like 125 194 1e-5 BLAST
transmembrane domain 217 239 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163619
AA Change: C43R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131071
Gene: ENSMUSG00000013353
AA Change: C43R

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
PDB:2ZG3|A 17 88 1e-5 PDB
Blast:IG_like 22 88 2e-21 BLAST
low complexity region 89 104 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168213
SMART Domains Protein: ENSMUSP00000129928
Gene: ENSMUSG00000013353

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:IG_like 23 119 2e-13 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168636
Predicted Effect probably benign
Transcript: ENSMUST00000168883
Predicted Effect probably damaging
Transcript: ENSMUST00000171174
AA Change: C140R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129888
Gene: ENSMUSG00000013353
AA Change: C140R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Ig_2 113 216 5.6e-3 PFAM
Pfam:Ig_2 200 297 7.7e-3 PFAM
transmembrane domain 311 333 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000191516
AA Change: C140R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139468
Gene: ENSMUSG00000013353
AA Change: C140R

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Ig_2 113 216 5.6e-3 PFAM
Pfam:Ig_2 200 297 7.7e-3 PFAM
transmembrane domain 311 333 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Clpb T A 7: 101,428,531 (GRCm39) H430Q probably damaging Het
Eloa G T 4: 135,738,217 (GRCm39) H248N probably benign Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
Lhfpl2 A G 13: 94,310,966 (GRCm39) T79A probably benign Het
Prkaa2 T C 4: 104,909,204 (GRCm39) Y80C probably damaging Het
Slc4a3 T A 1: 75,529,306 (GRCm39) C541* probably null Het
Slc4a4 A T 5: 89,082,673 (GRCm39) E22V probably damaging Het
Stard5 T C 7: 83,281,951 (GRCm39) V36A probably damaging Het
Tchh CACGCGAGGAACGCGAGGAAC CACGCGAGGAAC 3: 93,355,057 (GRCm39) probably benign Het
Trpc6 G T 9: 8,544,467 (GRCm39) G12V probably benign Het
Other mutations in 4931406B18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:4931406B18Rik APN 7 43,153,599 (GRCm39) splice site probably benign
IGL01902:4931406B18Rik APN 7 43,147,267 (GRCm39) missense probably damaging 0.96
IGL02616:4931406B18Rik APN 7 43,150,437 (GRCm39) splice site probably null
IGL02677:4931406B18Rik APN 7 43,150,519 (GRCm39) nonsense probably null
IGL03030:4931406B18Rik APN 7 43,145,057 (GRCm39) missense possibly damaging 0.62
R0007:4931406B18Rik UTSW 7 43,147,466 (GRCm39) splice site probably benign
R0788:4931406B18Rik UTSW 7 43,148,623 (GRCm39) missense probably damaging 0.98
R1544:4931406B18Rik UTSW 7 43,147,543 (GRCm39) missense possibly damaging 0.92
R4656:4931406B18Rik UTSW 7 43,150,565 (GRCm39) missense probably benign 0.20
R5595:4931406B18Rik UTSW 7 43,147,296 (GRCm39) missense possibly damaging 0.92
R6288:4931406B18Rik UTSW 7 43,147,549 (GRCm39) missense probably damaging 1.00
R6389:4931406B18Rik UTSW 7 43,147,254 (GRCm39) missense possibly damaging 0.94
R6651:4931406B18Rik UTSW 7 43,147,496 (GRCm39) missense possibly damaging 0.81
R6912:4931406B18Rik UTSW 7 43,150,571 (GRCm39) missense possibly damaging 0.95
R7254:4931406B18Rik UTSW 7 43,147,623 (GRCm39) missense probably damaging 0.99
R7615:4931406B18Rik UTSW 7 43,147,273 (GRCm39) missense possibly damaging 0.64
R8167:4931406B18Rik UTSW 7 43,147,288 (GRCm39) missense possibly damaging 0.79
R9052:4931406B18Rik UTSW 7 43,147,631 (GRCm39) nonsense probably null
R9109:4931406B18Rik UTSW 7 43,148,702 (GRCm39) missense
R9182:4931406B18Rik UTSW 7 43,153,640 (GRCm39) missense probably damaging 0.97
R9201:4931406B18Rik UTSW 7 43,150,709 (GRCm39) missense possibly damaging 0.46
R9787:4931406B18Rik UTSW 7 43,150,695 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- GACCAGTTGTAGCTTGACCAC -3'
(R):5'- TGGCAATCCCAAGTTCTGTGG -3'

Sequencing Primer
(F):5'- TGACCACTTTACTGCTGGACAAG -3'
(R):5'- CCAAGTTCTGTGGGACCG -3'
Posted On 2015-01-11