Incidental Mutation 'R5512:2310057M21Rik'
ID 440100
Institutional Source Beutler Lab
Gene Symbol 2310057M21Rik
Ensembl Gene ENSMUSG00000040177
Gene Name RIKEN cDNA 2310057M21 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R5512 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 130943340-130964570 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130952389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 364 (V364A)
Ref Sequence ENSEMBL: ENSMUSP00000050128 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059438] [ENSMUST00000124096] [ENSMUST00000207354] [ENSMUST00000208526]
AlphaFold Q9D2Q3
Predicted Effect possibly damaging
Transcript: ENSMUST00000059438
AA Change: V364A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050128
Gene: ENSMUSG00000040177
AA Change: V364A

DomainStartEndE-ValueType
Pfam:DUF4506 59 198 1.8e-60 PFAM
low complexity region 320 328 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207117
Predicted Effect probably benign
Transcript: ENSMUST00000207354
Predicted Effect probably benign
Transcript: ENSMUST00000208526
AA Change: V364A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Adgre5 T C 8: 84,455,715 (GRCm39) N198D probably benign Het
Adgrf4 G T 17: 42,978,176 (GRCm39) T389K probably benign Het
Apc T A 18: 34,443,962 (GRCm39) probably benign Het
Appl2 T A 10: 83,441,682 (GRCm39) I524F probably damaging Het
Arhgef37 G A 18: 61,632,845 (GRCm39) Q531* probably null Het
Atp7b T C 8: 22,502,755 (GRCm39) T694A probably benign Het
Cacna1g T A 11: 94,334,968 (GRCm39) I780F probably damaging Het
Calcoco2 T C 11: 95,994,162 (GRCm39) K95E probably damaging Het
Cars1 T C 7: 143,123,870 (GRCm39) D388G possibly damaging Het
Ccdc150 A C 1: 54,393,806 (GRCm39) E690A probably damaging Het
Cdc73 G T 1: 143,578,354 (GRCm39) D3E probably damaging Het
Cdh23 C A 10: 60,370,165 (GRCm39) probably null Het
Cep170b T C 12: 112,699,919 (GRCm39) S143P possibly damaging Het
Cherp T C 8: 73,217,110 (GRCm39) I607V possibly damaging Het
CN725425 T A 15: 91,124,959 (GRCm39) H166Q probably benign Het
Dcaf6 A G 1: 165,227,404 (GRCm39) V241A possibly damaging Het
Dot1l C T 10: 80,624,825 (GRCm39) P881S possibly damaging Het
Drgx A G 14: 32,322,001 (GRCm39) H5R probably damaging Het
Dsg1c A T 18: 20,405,568 (GRCm39) N327I probably damaging Het
Fbxw7 G A 3: 84,862,216 (GRCm39) R182H probably damaging Het
Fkbp1b A T 12: 4,888,183 (GRCm39) V24E probably benign Het
Fut11 T C 14: 20,746,069 (GRCm39) S304P probably damaging Het
Ggt1 C T 10: 75,420,718 (GRCm39) T361I probably damaging Het
Gimap7 G T 6: 48,700,530 (GRCm39) A39S probably benign Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gm17541 G T 12: 4,739,452 (GRCm39) probably benign Het
Gmip T A 8: 70,270,540 (GRCm39) V750E probably benign Het
Gna14 A G 19: 16,585,492 (GRCm39) E290G probably benign Het
Gpnmb T C 6: 49,022,398 (GRCm39) V176A possibly damaging Het
Hhla1 T C 15: 65,795,865 (GRCm39) K447R probably benign Het
Hsd3b1 A G 3: 98,760,521 (GRCm39) Y157H probably benign Het
Iqgap2 G A 13: 95,811,884 (GRCm39) Q706* probably null Het
Krt222 A C 11: 99,125,781 (GRCm39) S283R probably damaging Het
Ldb2 G A 5: 44,637,586 (GRCm39) R241W probably damaging Het
Lrrc8d G A 5: 105,960,651 (GRCm39) E354K probably benign Het
Lrrc8d C G 5: 105,960,650 (GRCm39) F353L probably damaging Het
Masp2 A T 4: 148,698,526 (GRCm39) I536F probably damaging Het
Mptx1 A G 1: 174,160,315 (GRCm39) D207G probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Napsa A G 7: 44,222,040 (GRCm39) M1V probably null Het
Ncam1 A T 9: 49,420,999 (GRCm39) probably null Het
Nckap5 G A 1: 125,955,481 (GRCm39) P425L possibly damaging Het
Nol8 A G 13: 49,830,263 (GRCm39) S1116G probably benign Het
Nrde2 G T 12: 100,108,509 (GRCm39) Q361K probably benign Het
Nudt13 G A 14: 20,357,800 (GRCm39) G133D probably damaging Het
Ofcc1 G T 13: 40,360,286 (GRCm39) Q248K probably benign Het
Olfm4 A G 14: 80,258,787 (GRCm39) D345G probably benign Het
Or2t6 C A 14: 14,175,633 (GRCm38) G150C probably damaging Het
Or4k41 G A 2: 111,280,099 (GRCm39) V205I probably benign Het
Osbpl3 T G 6: 50,286,340 (GRCm39) K659N probably damaging Het
Pdk2 G A 11: 94,930,292 (GRCm39) T48M probably damaging Het
Phf11a A T 14: 59,524,999 (GRCm39) D68E probably benign Het
Purb A G 11: 6,425,702 (GRCm39) V62A probably damaging Het
Rabep2 A G 7: 126,037,971 (GRCm39) T248A possibly damaging Het
Rps19bp1 CCTTCTTCTTCTTCTTCTTCTT CCTTCTTCTTCTTCTTCTT 15: 80,145,250 (GRCm39) probably benign Het
Rtl1 C T 12: 109,557,805 (GRCm39) E1345K unknown Het
Sema3e G A 5: 14,280,194 (GRCm39) A358T probably damaging Het
Slc29a2 A G 19: 5,076,426 (GRCm39) I105V probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc6a5 G A 7: 49,591,573 (GRCm39) V513I probably damaging Het
Slco4a1 T A 2: 180,115,907 (GRCm39) F681Y possibly damaging Het
Sp1 A G 15: 102,339,445 (GRCm39) N775S possibly damaging Het
Sspo T A 6: 48,432,605 (GRCm39) V827D probably damaging Het
Taar7f C T 10: 23,926,321 (GRCm39) T305M possibly damaging Het
Tars2 A T 3: 95,657,728 (GRCm39) C238S probably damaging Het
Tasor2 A T 13: 3,645,517 (GRCm39) Y111N probably damaging Het
Tnks1bp1 C A 2: 84,893,178 (GRCm39) P373Q probably benign Het
Tnpo3 A G 6: 29,575,045 (GRCm39) L373P probably damaging Het
Unc45b A C 11: 82,805,898 (GRCm39) D135A possibly damaging Het
Vmn1r235 A T 17: 21,481,677 (GRCm39) M1L probably benign Het
Vmn2r66 T C 7: 84,657,149 (GRCm39) I85M probably damaging Het
Vmn2r80 T G 10: 79,004,066 (GRCm39) L93W probably benign Het
Vwf G T 6: 125,650,850 (GRCm39) probably benign Het
Ythdf3 A G 3: 16,238,086 (GRCm39) R9G probably damaging Het
Zfp229 A G 17: 21,964,017 (GRCm39) probably null Het
Zfp958 A C 8: 4,675,838 (GRCm39) probably null Het
Other mutations in 2310057M21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01769:2310057M21Rik APN 7 130,959,215 (GRCm39) missense probably benign 0.13
R0600:2310057M21Rik UTSW 7 130,959,389 (GRCm39) missense probably damaging 1.00
R0838:2310057M21Rik UTSW 7 130,963,535 (GRCm39) missense probably damaging 0.97
R1703:2310057M21Rik UTSW 7 130,945,431 (GRCm39) nonsense probably null
R2073:2310057M21Rik UTSW 7 130,959,242 (GRCm39) missense probably benign 0.00
R2206:2310057M21Rik UTSW 7 130,964,331 (GRCm39) missense probably benign 0.02
R4575:2310057M21Rik UTSW 7 130,964,325 (GRCm39) missense probably benign 0.13
R4620:2310057M21Rik UTSW 7 130,945,335 (GRCm39) nonsense probably null
R4704:2310057M21Rik UTSW 7 130,959,259 (GRCm39) missense probably damaging 0.99
R4947:2310057M21Rik UTSW 7 130,959,343 (GRCm39) missense probably damaging 1.00
R6137:2310057M21Rik UTSW 7 130,959,342 (GRCm39) missense probably damaging 1.00
R7227:2310057M21Rik UTSW 7 130,952,449 (GRCm39) missense probably damaging 1.00
R7748:2310057M21Rik UTSW 7 130,963,521 (GRCm39) missense probably benign 0.04
R7940:2310057M21Rik UTSW 7 130,952,767 (GRCm39) missense probably benign
X0062:2310057M21Rik UTSW 7 130,952,411 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- TGCAACATCAACCTATGCAGTC -3'
(R):5'- GGGTCACCTTATGCCACAAAAC -3'

Sequencing Primer
(F):5'- ATCAACCTATGCAGTCCGCTC -3'
(R):5'- CCCTTGAAAGTGATCTTAAAAACGC -3'
Posted On 2016-11-08