Incidental Mutation 'R6991:2310022A10Rik'
ID 543839
Institutional Source Beutler Lab
Gene Symbol 2310022A10Rik
Ensembl Gene ENSMUSG00000049643
Gene Name RIKEN cDNA 2310022A10 gene
Synonyms
MMRRC Submission 045097-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R6991 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 27252658-27281524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27279871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 278 (V278D)
Ref Sequence ENSEMBL: ENSMUSP00000139423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067386] [ENSMUST00000187032] [ENSMUST00000187960]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000067386
AA Change: V284D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066803
Gene: ENSMUSG00000049643
AA Change: V284D

DomainStartEndE-ValueType
Blast:SAM 34 100 5e-20 BLAST
SCOP:d1b4fa_ 54 100 7e-5 SMART
low complexity region 164 176 N/A INTRINSIC
low complexity region 268 277 N/A INTRINSIC
low complexity region 300 325 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000187032
AA Change: V278D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139423
Gene: ENSMUSG00000049643
AA Change: V278D

DomainStartEndE-ValueType
Blast:SAM 28 92 4e-20 BLAST
SCOP:d1b4fa_ 48 94 6e-5 SMART
low complexity region 158 170 N/A INTRINSIC
low complexity region 262 271 N/A INTRINSIC
low complexity region 294 319 N/A INTRINSIC
low complexity region 378 386 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000187960
AA Change: V284D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140651
Gene: ENSMUSG00000049643
AA Change: V284D

DomainStartEndE-ValueType
Blast:SAM 34 98 4e-20 BLAST
SCOP:d1b4fa_ 54 100 6e-5 SMART
low complexity region 164 176 N/A INTRINSIC
low complexity region 268 277 N/A INTRINSIC
low complexity region 300 325 N/A INTRINSIC
low complexity region 384 392 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190656
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 G T 10: 4,307,122 (GRCm39) E1311* probably null Het
Ankdd1a T A 9: 65,415,957 (GRCm39) D186V probably benign Het
Birc6 A G 17: 74,869,090 (GRCm39) E346G probably damaging Het
Brd10 A G 19: 29,696,508 (GRCm39) L995S possibly damaging Het
Ccr7 A C 11: 99,036,130 (GRCm39) V264G probably damaging Het
Col7a1 T C 9: 108,812,987 (GRCm39) probably null Het
Coq8a T C 1: 180,006,633 (GRCm39) T132A probably benign Het
Cplane1 A G 15: 8,281,690 (GRCm39) E2843G unknown Het
Cyp2b10 G A 7: 25,616,780 (GRCm39) S407N probably benign Het
Ddi2 A G 4: 141,412,561 (GRCm39) V117A probably benign Het
Ddx42 G A 11: 106,129,970 (GRCm39) V421I probably damaging Het
Dip2c T A 13: 9,601,896 (GRCm39) L285* probably null Het
Dip2c C T 13: 9,684,868 (GRCm39) S1232F probably damaging Het
Dner T A 1: 84,454,123 (GRCm39) R402* probably null Het
Dpysl3 A T 18: 43,486,956 (GRCm39) I317N probably damaging Het
Dusp23 T A 1: 172,459,224 (GRCm39) Y146F probably benign Het
Eef1a2 C A 2: 180,790,421 (GRCm39) V412L possibly damaging Het
Epha7 C T 4: 28,821,489 (GRCm39) T218I probably damaging Het
Gigyf2 T A 1: 87,334,858 (GRCm39) C284S probably damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Hao2 T A 3: 98,784,068 (GRCm39) E327V probably damaging Het
Hdhd5 A G 6: 120,487,130 (GRCm39) V409A probably damaging Het
Kif9 T C 9: 110,323,690 (GRCm39) Y236H probably damaging Het
Kri1 T C 9: 21,199,050 (GRCm39) probably benign Het
Lig4 A T 8: 10,021,098 (GRCm39) V894E probably damaging Het
Lrriq1 T C 10: 103,023,319 (GRCm39) N982S probably damaging Het
Mapk8 T C 14: 33,132,841 (GRCm39) I32V possibly damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mstn T C 1: 53,101,100 (GRCm39) I59T probably benign Het
Mtrf1l T C 10: 5,763,384 (GRCm39) E315G probably damaging Het
Notch4 G T 17: 34,803,774 (GRCm39) E1515* probably null Het
Npw A C 17: 24,877,029 (GRCm39) V124G probably benign Het
Nxph3 A G 11: 95,402,244 (GRCm39) S57P probably damaging Het
Opn4 A T 14: 34,315,864 (GRCm39) L390M probably benign Het
Or12e10 G A 2: 87,640,787 (GRCm39) D208N possibly damaging Het
Or52e4 T C 7: 104,705,771 (GRCm39) I106T probably damaging Het
Or5b95 G T 19: 12,658,112 (GRCm39) L213F probably benign Het
Or5g23 T C 2: 85,438,592 (GRCm39) I221V possibly damaging Het
Or5p68 T A 7: 107,945,295 (GRCm39) N298Y possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pla2g2e G A 4: 138,607,986 (GRCm39) C62Y probably damaging Het
Plcb4 G A 2: 135,752,114 (GRCm39) V107M probably damaging Het
Pramel33 T A 5: 93,632,233 (GRCm39) N107I probably damaging Het
Prorsd1 A C 11: 29,464,486 (GRCm39) probably benign Het
Prox2 A G 12: 85,134,165 (GRCm39) L587P probably benign Het
Prr22 A G 17: 57,078,345 (GRCm39) D166G possibly damaging Het
Ptprz1 G A 6: 23,002,686 (GRCm39) R1592Q probably benign Het
Rarg C G 15: 102,150,350 (GRCm39) R74P probably damaging Het
Rcan1 A G 16: 92,194,251 (GRCm39) V54A probably benign Het
Rmdn2 A G 17: 79,928,739 (GRCm39) probably benign Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Serpina1a T C 12: 103,820,092 (GRCm39) T385A probably benign Het
Slc44a3 T C 3: 121,325,814 (GRCm39) Y12C probably benign Het
Smg1 C A 7: 117,767,091 (GRCm39) probably benign Het
Spock3 A G 8: 63,808,415 (GRCm39) *437W probably null Het
Sugct T A 13: 17,728,965 (GRCm39) Q220H probably benign Het
Tesk1 A G 4: 43,447,006 (GRCm39) T465A probably benign Het
Tnks C A 8: 35,301,647 (GRCm39) R1274I probably damaging Het
Trp53bp1 C T 2: 121,038,521 (GRCm39) R1439H probably damaging Het
Vmn1r16 G T 6: 57,299,869 (GRCm39) S251* probably null Het
Vmn2r15 T A 5: 109,441,180 (GRCm39) Q226L probably damaging Het
Vmn2r67 T G 7: 84,804,953 (GRCm39) Y53S possibly damaging Het
Vmn2r99 A G 17: 19,598,372 (GRCm39) N132S probably benign Het
Wdr73 T G 7: 80,541,604 (GRCm39) T313P probably benign Het
Zfp65 C T 13: 67,856,640 (GRCm39) R213Q probably damaging Het
Other mutations in 2310022A10Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02292:2310022A10Rik APN 7 27,263,982 (GRCm39) missense probably benign 0.05
IGL03261:2310022A10Rik APN 7 27,279,863 (GRCm39) nonsense probably null
R0305:2310022A10Rik UTSW 7 27,274,061 (GRCm39) missense probably damaging 1.00
R1080:2310022A10Rik UTSW 7 27,265,109 (GRCm39) missense probably benign
R1696:2310022A10Rik UTSW 7 27,260,022 (GRCm39) missense possibly damaging 0.94
R1773:2310022A10Rik UTSW 7 27,280,020 (GRCm39) missense probably damaging 0.98
R4171:2310022A10Rik UTSW 7 27,265,109 (GRCm39) missense probably benign
R4583:2310022A10Rik UTSW 7 27,274,017 (GRCm39) missense unknown
R4781:2310022A10Rik UTSW 7 27,271,076 (GRCm39) missense probably damaging 1.00
R4806:2310022A10Rik UTSW 7 27,265,070 (GRCm39) critical splice acceptor site probably null
R4998:2310022A10Rik UTSW 7 27,271,088 (GRCm39) missense probably damaging 1.00
R5000:2310022A10Rik UTSW 7 27,255,946 (GRCm39) missense probably benign 0.04
R5007:2310022A10Rik UTSW 7 27,278,192 (GRCm39) missense probably damaging 1.00
R5008:2310022A10Rik UTSW 7 27,278,192 (GRCm39) missense probably damaging 1.00
R5364:2310022A10Rik UTSW 7 27,278,192 (GRCm39) missense probably damaging 1.00
R6119:2310022A10Rik UTSW 7 27,265,138 (GRCm39) nonsense probably null
R7014:2310022A10Rik UTSW 7 27,278,198 (GRCm39) nonsense probably null
R7519:2310022A10Rik UTSW 7 27,274,155 (GRCm39) missense
R7787:2310022A10Rik UTSW 7 27,263,926 (GRCm39) missense probably damaging 1.00
R8244:2310022A10Rik UTSW 7 27,271,004 (GRCm39) missense probably damaging 1.00
R8525:2310022A10Rik UTSW 7 27,255,936 (GRCm39) missense possibly damaging 0.64
R9246:2310022A10Rik UTSW 7 27,279,961 (GRCm39) missense probably benign 0.06
R9500:2310022A10Rik UTSW 7 27,265,091 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- TGTCACTGAACTGTCATCTGAC -3'
(R):5'- TTGCCCAGTCTCTGAAGGATG -3'

Sequencing Primer
(F):5'- GAACTGTCATCTGACTTCTTAGAGGC -3'
(R):5'- CAGTCTCTGAAGGATGCTGAC -3'
Posted On 2019-05-13