Incidental Mutation 'R9537:2310007B03Rik'
ID 719721
Institutional Source Beutler Lab
Gene Symbol 2310007B03Rik
Ensembl Gene ENSMUSG00000034159
Gene Name RIKEN cDNA 2310007B03 gene
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9537 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 93151349-93160948 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93153162 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 341 (K341E)
Ref Sequence ENSEMBL: ENSMUSP00000035332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043718] [ENSMUST00000143419]
AlphaFold Q8CEZ4
Predicted Effect possibly damaging
Transcript: ENSMUST00000043718
AA Change: K341E

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035332
Gene: ENSMUSG00000034159
AA Change: K341E

DomainStartEndE-ValueType
Mab-21 71 372 2.18e-52 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000143419
AA Change: K341E

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115971
Gene: ENSMUSG00000034159
AA Change: K341E

DomainStartEndE-ValueType
Mab-21 71 372 2.18e-52 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 A G 5: 49,960,865 Y1114H possibly damaging Het
Atp5j A G 16: 84,828,470 Y82H probably damaging Het
Bcl2a1d T G 9: 88,731,473 I83L probably benign Het
Bean1 CT C 8: 104,182,032 probably null Het
Bglap3 T C 3: 88,368,832 D71G probably benign Het
Bnip3l G A 14: 67,008,765 P7L possibly damaging Het
Chmp2b T C 16: 65,551,046 K15E probably benign Het
Chrm3 A T 13: 9,877,426 W525R probably damaging Het
Col7a1 A T 9: 108,955,352 K143* probably null Het
D6Ertd527e G C 6: 87,111,857 S334T unknown Het
Dnaic1 A G 4: 41,629,790 probably null Het
Dnhd1 G A 7: 105,695,533 G2028D probably damaging Het
Esyt3 C T 9: 99,317,239 R773Q probably damaging Het
Ffar1 T C 7: 30,860,600 T291A probably benign Het
Gm5767 G T 16: 8,683,313 C11F Het
Golga2 G T 2: 32,288,301 probably benign Het
Hapln2 T A 3: 88,024,473 probably null Het
Ing1 T C 8: 11,561,889 L203P probably benign Het
Med1 T C 11: 98,171,760 T171A possibly damaging Het
Mib2 A T 4: 155,657,495 L387H probably damaging Het
Mier1 A G 4: 103,162,561 N494S probably benign Het
Myof A G 19: 37,907,606 L1847P probably damaging Het
Ndst3 A T 3: 123,671,513 V270D Het
Nup160 T C 2: 90,729,744 L1271S possibly damaging Het
Osgep A T 14: 50,924,662 probably null Het
Ptgfr G T 3: 151,835,808 T21N possibly damaging Het
Ptgs1 T C 2: 36,230,727 S23P unknown Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,579,914 probably benign Het
Smu1 A G 4: 40,755,671 S65P probably benign Het
Spef2 T C 15: 9,601,799 Y1459C unknown Het
Spen A G 4: 141,471,704 V3204A probably benign Het
Spen TTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTG 4: 141,516,845 probably benign Het
Timm44 G A 8: 4,260,576 T392I possibly damaging Het
Tnc A T 4: 63,966,584 I1818N probably damaging Het
Trpm1 G T 7: 64,153,868 probably benign Het
Ttc14 A G 3: 33,803,198 Y231C probably damaging Het
Ube3b A G 5: 114,387,184 R23G probably damaging Het
Usp40 T C 1: 88,007,395 Y10C probably benign Het
Vmn2r107 C A 17: 20,374,887 S567R probably benign Het
Zfp112 T C 7: 24,127,087 Y831H probably damaging Het
Zfy2 T A Y: 2,108,596 T355S Het
Other mutations in 2310007B03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01954:2310007B03Rik APN 1 93152072 missense probably damaging 0.98
R0018:2310007B03Rik UTSW 1 93154605 missense probably benign 0.00
R0115:2310007B03Rik UTSW 1 93159725 missense possibly damaging 0.70
R0467:2310007B03Rik UTSW 1 93153044 missense probably damaging 1.00
R1452:2310007B03Rik UTSW 1 93152939 missense probably damaging 1.00
R1938:2310007B03Rik UTSW 1 93152008 makesense probably null
R3156:2310007B03Rik UTSW 1 93160042 missense possibly damaging 0.95
R4740:2310007B03Rik UTSW 1 93156168 missense probably benign 0.01
R5260:2310007B03Rik UTSW 1 93159978 missense probably damaging 0.99
R5283:2310007B03Rik UTSW 1 93159853 missense probably benign 0.02
R5645:2310007B03Rik UTSW 1 93152946 missense probably damaging 1.00
R6380:2310007B03Rik UTSW 1 93160891 splice site probably null
R6738:2310007B03Rik UTSW 1 93159985 missense probably benign 0.30
R7184:2310007B03Rik UTSW 1 93154515 missense probably benign 0.00
R7227:2310007B03Rik UTSW 1 93152014 missense probably benign 0.00
R7562:2310007B03Rik UTSW 1 93159967 missense probably damaging 1.00
R8001:2310007B03Rik UTSW 1 93154599 missense probably damaging 1.00
R8735:2310007B03Rik UTSW 1 93154486 critical splice donor site probably null
R8970:2310007B03Rik UTSW 1 93159811 missense probably benign 0.00
R9418:2310007B03Rik UTSW 1 93159988 missense probably benign 0.45
R9599:2310007B03Rik UTSW 1 93159846 missense possibly damaging 0.73
R9736:2310007B03Rik UTSW 1 93159939 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACCATTGTCGATGCGTGGTG -3'
(R):5'- ACTAAGGTTCAGCACAGGGTG -3'

Sequencing Primer
(F):5'- CGTGGTGGACGGCTGGG -3'
(R):5'- AGCTGTAGGAGGGCACTC -3'
Posted On 2022-07-18