Incidental Mutation 'R8938:2310002L09Rik'
ID 680778
Institutional Source Beutler Lab
Gene Symbol 2310002L09Rik
Ensembl Gene ENSMUSG00000028396
Gene Name RIKEN cDNA 2310002L09 gene
Synonyms
MMRRC Submission 068711-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R8938 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 73857608-73869083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73861424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 59 (S59P)
Ref Sequence ENSEMBL: ENSMUSP00000092633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030101] [ENSMUST00000095023]
AlphaFold Q9D7L5
Predicted Effect probably damaging
Transcript: ENSMUST00000030101
AA Change: S59P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030101
Gene: ENSMUSG00000028396
AA Change: S59P

DomainStartEndE-ValueType
transmembrane domain 173 195 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000095023
AA Change: S59P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092633
Gene: ENSMUSG00000028396
AA Change: S59P

DomainStartEndE-ValueType
transmembrane domain 174 196 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 G T 7: 45,816,418 (GRCm39) H241N Het
Acsm1 T C 7: 119,258,385 (GRCm39) S493P probably damaging Het
Agtr1a T C 13: 30,565,049 (GRCm39) I38T probably damaging Het
Ahnak T C 19: 8,989,099 (GRCm39) I3461T probably benign Het
Bbox1 T A 2: 110,100,529 (GRCm39) T223S probably benign Het
Brip1 T C 11: 86,039,227 (GRCm39) K436E possibly damaging Het
Cdhr1 T A 14: 36,809,405 (GRCm39) T299S probably benign Het
Cr2 T C 1: 194,853,424 (GRCm39) D18G probably damaging Het
Cyp51 T C 5: 4,150,202 (GRCm39) I174V probably benign Het
Dnah2 A T 11: 69,328,754 (GRCm39) Y3290N probably damaging Het
Fcho1 T G 8: 72,169,790 (GRCm39) K111T possibly damaging Het
Firrm C T 1: 163,789,541 (GRCm39) V665I probably benign Het
Gli2 A T 1: 118,763,935 (GRCm39) D1405E probably damaging Het
Gsg1l2 A G 11: 67,680,399 (GRCm39) H278R possibly damaging Het
H2-K2 T C 17: 34,216,294 (GRCm39) H284R probably damaging Het
Ighv1-62-1 C T 12: 115,350,735 (GRCm39) W5* probably null Het
Ighv1-81 T A 12: 115,883,988 (GRCm39) T88S probably benign Het
Igkv4-57 T A 6: 69,553,256 (GRCm39) M19L probably benign Het
Klk1b3 G T 7: 43,849,729 (GRCm39) W38L probably damaging Het
Lama3 T C 18: 12,689,762 (GRCm39) S2835P probably damaging Het
Lhx8 T C 3: 154,028,024 (GRCm39) N145S possibly damaging Het
Mfsd6 A T 1: 52,748,454 (GRCm39) L137H probably damaging Het
Mmp12 GTAATAATAATAATAATAAT GTAATAATAATAATAAT 9: 7,348,446 (GRCm39) probably benign Het
Mpst A T 15: 78,294,270 (GRCm39) M1L possibly damaging Het
Mrpl2 T A 17: 46,957,238 (GRCm39) probably benign Het
Mybpc3 T C 2: 90,954,294 (GRCm39) V224A probably damaging Het
Nol4l T C 2: 153,262,651 (GRCm39) D63G probably damaging Het
Or8g36 A T 9: 39,422,910 (GRCm39) Y35* probably null Het
Patz1 C T 11: 3,240,660 (GRCm39) T16I probably damaging Het
Pcdha3 A G 18: 37,080,154 (GRCm39) I299V probably benign Het
Pcdhb18 G T 18: 37,623,537 (GRCm39) R289L probably benign Het
Pcdhga6 A T 18: 37,841,562 (GRCm39) R427S probably benign Het
Pcdhga8 T A 18: 37,859,955 (GRCm39) V337E probably damaging Het
Pik3c2b T A 1: 133,016,068 (GRCm39) W877R probably benign Het
Plcg2 T C 8: 118,231,114 (GRCm39) probably null Het
Prp2 C A 6: 132,577,581 (GRCm39) H289Q unknown Het
Rac2 A G 15: 78,446,112 (GRCm39) L192P probably damaging Het
Rfx4 T A 10: 84,675,936 (GRCm39) Y51N probably damaging Het
Rptn A T 3: 93,302,332 (GRCm39) Q16L possibly damaging Het
Ryr1 C T 7: 28,801,358 (GRCm39) G802D probably damaging Het
Shroom3 T C 5: 93,090,930 (GRCm39) S1146P probably damaging Het
Stam T C 2: 14,133,984 (GRCm39) probably null Het
Vmn2r100 A G 17: 19,751,825 (GRCm39) M623V probably benign Het
Wdr90 G A 17: 26,076,146 (GRCm39) R104C Het
Xkr7 T C 2: 152,874,133 (GRCm39) F67L probably damaging Het
Zfp451 A T 1: 33,842,063 (GRCm39) probably benign Het
Zfp609 C T 9: 65,610,561 (GRCm39) A801T possibly damaging Het
Zfp974 A T 7: 27,610,311 (GRCm39) H471Q possibly damaging Het
Other mutations in 2310002L09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:2310002L09Rik APN 4 73,860,956 (GRCm39) missense possibly damaging 0.66
IGL01366:2310002L09Rik APN 4 73,868,937 (GRCm39) utr 5 prime probably benign
IGL02596:2310002L09Rik APN 4 73,868,904 (GRCm39) missense possibly damaging 0.94
R0841:2310002L09Rik UTSW 4 73,860,986 (GRCm39) missense probably benign
R2919:2310002L09Rik UTSW 4 73,868,845 (GRCm39) missense probably damaging 1.00
R6056:2310002L09Rik UTSW 4 73,861,115 (GRCm39) missense probably benign 0.00
R6795:2310002L09Rik UTSW 4 73,869,065 (GRCm39) start gained probably benign
R6889:2310002L09Rik UTSW 4 73,861,290 (GRCm39) missense probably benign 0.19
R7709:2310002L09Rik UTSW 4 73,861,091 (GRCm39) missense possibly damaging 0.52
R7793:2310002L09Rik UTSW 4 73,861,172 (GRCm39) missense probably benign 0.05
R8517:2310002L09Rik UTSW 4 73,861,206 (GRCm39) missense probably damaging 1.00
R8671:2310002L09Rik UTSW 4 73,861,166 (GRCm39) missense probably damaging 1.00
R8867:2310002L09Rik UTSW 4 73,861,087 (GRCm39) missense probably damaging 1.00
R9618:2310002L09Rik UTSW 4 73,868,934 (GRCm39) start codon destroyed probably null 0.46
Predicted Primers PCR Primer
(F):5'- CTACATCCTCAAACGTATCTGTGTC -3'
(R):5'- TAGCCAACGAGGTCTGACAC -3'

Sequencing Primer
(F):5'- CTCTTTCTAACACAAACCTAGATGG -3'
(R):5'- GCCAACGAGGTCTGACACTAATATG -3'
Posted On 2021-08-31