Incidental Mutation 'IGL03112:B430306N03Rik'
ID 419226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B430306N03Rik
Ensembl Gene ENSMUSG00000043740
Gene Name RIKEN cDNA B430306N03 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL03112
Quality Score
Status
Chromosome 17
Chromosomal Location 48622310-48632580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 48623834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 45 (S45L)
Ref Sequence ENSEMBL: ENSMUSP00000122378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049614] [ENSMUST00000125174] [ENSMUST00000129825] [ENSMUST00000170941]
AlphaFold Q6QX36
Predicted Effect probably benign
Transcript: ENSMUST00000049614
AA Change: S45L

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000054890
Gene: ENSMUSG00000043740
AA Change: S45L

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG 26 122 2.96e-6 SMART
transmembrane domain 155 177 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124205
Predicted Effect probably benign
Transcript: ENSMUST00000125174
AA Change: S45L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000120251
Gene: ENSMUSG00000043740
AA Change: S45L

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG 26 122 2.96e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129825
AA Change: S45L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000122378
Gene: ENSMUSG00000043740
AA Change: S45L

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG 26 122 2.96e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170941
SMART Domains Protein: ENSMUSP00000128215
Gene: ENSMUSG00000071068

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 129 3.13e-5 SMART
low complexity region 181 199 N/A INTRINSIC
transmembrane domain 268 290 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted, other(2)
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T C 8: 43,974,549 (GRCm39) N151S probably benign Het
Adgre1 G A 17: 57,755,029 (GRCm39) probably null Het
Apol11a T A 15: 77,401,509 (GRCm39) L332Q probably damaging Het
Cend1 G A 7: 141,007,640 (GRCm39) T60M probably benign Het
Col6a3 C A 1: 90,739,242 (GRCm39) E329* probably null Het
Col9a3 A G 2: 180,249,435 (GRCm39) R266G possibly damaging Het
Defb48 C T 14: 63,221,854 (GRCm39) probably benign Het
Eps8l2 T G 7: 140,941,649 (GRCm39) L640R probably damaging Het
Exoc2 T A 13: 31,090,570 (GRCm39) probably benign Het
Fam149a C T 8: 45,801,580 (GRCm39) V514M possibly damaging Het
Fbxo25 A T 8: 13,971,034 (GRCm39) D74V probably benign Het
Gm11733 A G 11: 117,377,966 (GRCm39) *126W probably null Het
Grm8 C T 6: 27,363,262 (GRCm39) C751Y probably damaging Het
Kctd16 A T 18: 40,391,853 (GRCm39) D147V probably benign Het
Lclat1 A T 17: 73,546,742 (GRCm39) T220S probably damaging Het
Lgi1 T A 19: 38,272,478 (GRCm39) H116Q possibly damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Lsm4 T A 8: 71,130,656 (GRCm39) I60N probably damaging Het
Morn1 T A 4: 155,177,601 (GRCm39) Y178N probably damaging Het
Mybl2 A G 2: 162,904,456 (GRCm39) E89G probably damaging Het
Myo18b T C 5: 113,021,856 (GRCm39) E512G probably benign Het
Myrfl A T 10: 116,639,311 (GRCm39) S583T probably benign Het
Nek6 A G 2: 38,450,914 (GRCm39) I106V probably damaging Het
Oas1a A T 5: 121,036,412 (GRCm39) D338E possibly damaging Het
Or10ag52 T A 2: 87,043,944 (GRCm39) I236N probably damaging Het
Or4a76 G A 2: 89,460,678 (GRCm39) T188I probably benign Het
Or6c1 A G 10: 129,517,792 (GRCm39) V272A probably benign Het
Pitrm1 C A 13: 6,615,044 (GRCm39) Q508K probably benign Het
S100b A G 10: 76,095,808 (GRCm39) D62G probably damaging Het
Sesn3 A G 9: 14,221,557 (GRCm39) H119R probably damaging Het
Sez6l T A 5: 112,621,333 (GRCm39) E247V probably damaging Het
Shoc1 G T 4: 59,049,355 (GRCm39) Q1069K probably benign Het
Shq1 C A 6: 100,550,574 (GRCm39) E455* probably null Het
Slc9b1 T A 3: 135,103,433 (GRCm39) M521K probably damaging Het
Supt16 A G 14: 52,413,855 (GRCm39) F543L probably damaging Het
Tcf25 T C 8: 124,109,258 (GRCm39) probably benign Het
Usp48 C A 4: 137,335,375 (GRCm39) Q183K probably damaging Het
Vmn1r178 G A 7: 23,593,086 (GRCm39) G45S probably damaging Het
Vmn1r237 T A 17: 21,534,368 (GRCm39) Y30* probably null Het
Other mutations in B430306N03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:B430306N03Rik APN 17 48,628,101 (GRCm39) missense probably damaging 1.00
IGL02149:B430306N03Rik APN 17 48,624,020 (GRCm39) missense probably benign 0.02
IGL02221:B430306N03Rik APN 17 48,631,223 (GRCm39) utr 3 prime probably benign
IGL03223:B430306N03Rik APN 17 48,623,896 (GRCm39) missense probably damaging 1.00
1mM(1):B430306N03Rik UTSW 17 48,629,431 (GRCm39) splice site probably benign
R1917:B430306N03Rik UTSW 17 48,631,176 (GRCm39) missense probably benign 0.44
R2086:B430306N03Rik UTSW 17 48,623,810 (GRCm39) missense probably damaging 1.00
R3052:B430306N03Rik UTSW 17 48,623,938 (GRCm39) missense probably damaging 0.98
R3695:B430306N03Rik UTSW 17 48,626,194 (GRCm39) missense possibly damaging 0.86
R6319:B430306N03Rik UTSW 17 48,623,771 (GRCm39) missense probably damaging 1.00
R6453:B430306N03Rik UTSW 17 48,623,764 (GRCm39) missense probably damaging 0.97
R6523:B430306N03Rik UTSW 17 48,626,193 (GRCm39) missense possibly damaging 0.53
R7140:B430306N03Rik UTSW 17 48,629,483 (GRCm39) nonsense probably null
R7905:B430306N03Rik UTSW 17 48,623,988 (GRCm39) missense probably benign 0.10
R7973:B430306N03Rik UTSW 17 48,623,483 (GRCm39) missense probably benign 0.09
R8907:B430306N03Rik UTSW 17 48,628,100 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02