Incidental Mutation 'R3695:B430306N03Rik'
ID 268958
Institutional Source Beutler Lab
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 # R3695 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 48622310-48632580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 48626194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 129 (T129I)
Ref Sequence ENSEMBL: ENSMUSP00000120251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049614] [ENSMUST00000125174] [ENSMUST00000129825]
AlphaFold Q6QX36
Predicted Effect possibly damaging
Transcript: ENSMUST00000049614
AA Change: T129I

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000054890
Gene: ENSMUSG00000043740
AA Change: T129I

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 possibly damaging
Transcript: ENSMUST00000125174
AA Change: T129I

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120251
Gene: ENSMUSG00000043740
AA Change: T129I

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG 26 122 2.96e-6 SMART
Predicted Effect silent
Transcript: ENSMUST00000129825
SMART Domains Protein: ENSMUSP00000122378
Gene: ENSMUSG00000043740

DomainStartEndE-ValueType
low complexity region 8 17 N/A INTRINSIC
IG 26 122 2.96e-6 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik A T X: 111,466,012 (GRCm39) L187F probably damaging Het
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atxn7l1 A G 12: 33,408,696 (GRCm39) N286S probably damaging Het
Cabp2 A G 19: 4,133,593 (GRCm39) T12A probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dmrta1 T A 4: 89,580,415 (GRCm39) Y458* probably null Het
Gabrr2 A G 4: 33,071,430 (GRCm39) D65G probably damaging Het
Grin3a G T 4: 49,792,704 (GRCm39) T343K possibly damaging Het
Hsp90ab1 T C 17: 45,882,403 (GRCm39) D97G probably damaging Het
Mageb4 G T X: 85,296,000 (GRCm39) R10S probably damaging Het
Mdm4 A G 1: 132,919,731 (GRCm39) L379S probably benign Het
Or8j3c T C 2: 86,253,987 (GRCm39) E11G probably damaging Het
Or8k40 A T 2: 86,584,215 (GRCm39) I289N probably damaging Het
Pde4b C T 4: 102,458,742 (GRCm39) A466V probably damaging Het
Pkd2l2 A G 18: 34,571,843 (GRCm39) N614S possibly damaging Het
Ppp2r2a C A 14: 67,257,199 (GRCm39) D344Y probably damaging Het
Rbm4 A G 19: 4,837,411 (GRCm39) Y358H probably damaging Het
Skic2 A G 17: 35,066,888 (GRCm39) F154S probably damaging Het
St3gal2 A G 8: 111,688,973 (GRCm39) D171G probably damaging Het
Strn T C 17: 78,964,421 (GRCm39) N515D probably damaging Het
Stxbp5l A T 16: 37,061,708 (GRCm39) Y367* probably null Het
Syk A G 13: 52,776,801 (GRCm39) probably null Het
Tgs1 A G 4: 3,604,949 (GRCm39) probably null Het
Tlr5 A T 1: 182,802,912 (GRCm39) R739W probably damaging Het
Tns2 G T 15: 102,021,184 (GRCm39) V942L probably null Het
Tsnaxip1 A G 8: 106,560,167 (GRCm39) T40A possibly damaging Het
Tub A G 7: 108,627,039 (GRCm39) S313G probably benign Het
Vmn2r77 A G 7: 86,450,044 (GRCm39) N97D probably damaging Het
Wscd2 T A 5: 113,689,078 (GRCm39) I28N possibly damaging 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
IGL03112:B430306N03Rik APN 17 48,623,834 (GRCm39) missense probably benign 0.06
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
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
Predicted Primers PCR Primer
(F):5'- CACAACACAGCATTGGTTTTCTG -3'
(R):5'- TGTGAGGTCTCAGGTTCAAC -3'

Sequencing Primer
(F):5'- ACACAGCATTGGTTTTCTGTGCAG -3'
(R):5'- TCAGAAGTGACTATCTGACTCCG -3'
Posted On 2015-02-19