Incidental Mutation 'R5008:2310022A10Rik'
ID 390283
Institutional Source Beutler Lab
Gene Symbol 2310022A10Rik
Ensembl Gene ENSMUSG00000049643
Gene Name RIKEN cDNA 2310022A10 gene
Synonyms
MMRRC Submission 042599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R5008 (G1)
Quality Score 173
Status Validated
Chromosome 7
Chromosomal Location 27252658-27281524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 27278192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Arginine at position 242 (T242R)
Ref Sequence ENSEMBL: ENSMUSP00000140651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067386] [ENSMUST00000187032] [ENSMUST00000187960] [ENSMUST00000191126]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000067386
AA Change: T242R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066803
Gene: ENSMUSG00000049643
AA Change: T242R

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 noncoding transcript
Transcript: ENSMUST00000186501
Predicted Effect probably damaging
Transcript: ENSMUST00000187032
AA Change: T236R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139423
Gene: ENSMUSG00000049643
AA Change: T236R

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: T242R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140651
Gene: ENSMUSG00000049643
AA Change: T242R

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 unknown
Transcript: ENSMUST00000190656
AA Change: R154G
Predicted Effect probably benign
Transcript: ENSMUST00000191126
SMART Domains Protein: ENSMUSP00000139696
Gene: ENSMUSG00000049643

DomainStartEndE-ValueType
Blast:SAM 8 74 1e-22 BLAST
SCOP:d1b4fa_ 28 74 4e-5 SMART
low complexity region 138 150 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 97% (73/75)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A G 16: 88,570,663 (GRCm39) Y126H probably damaging Het
Catsperg1 A T 7: 28,894,859 (GRCm39) Y579* probably null Het
Chchd5 A T 2: 128,972,319 (GRCm39) probably null Het
Chd1l T C 3: 97,491,224 (GRCm39) N423D probably damaging Het
Cntnap1 G A 11: 101,079,567 (GRCm39) W1268* probably null Het
Col2a1 G A 15: 97,877,550 (GRCm39) A1011V probably benign Het
Cst11 A G 2: 148,612,325 (GRCm39) I104T probably benign Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dnaaf4 T C 9: 72,879,600 (GRCm39) probably benign Het
Dnah17 A G 11: 118,001,403 (GRCm39) F847L probably benign Het
Dspp A T 5: 104,323,439 (GRCm39) H194L possibly damaging Het
Dync2i2 C A 2: 29,922,781 (GRCm39) R322L probably benign Het
Frmd5 C A 2: 121,379,341 (GRCm39) R414L probably damaging Het
Galnt3 C A 2: 65,915,585 (GRCm39) R592L probably benign Het
Gm38706 T A 6: 130,461,580 (GRCm39) noncoding transcript Het
Gm38706 T A 6: 130,461,983 (GRCm39) noncoding transcript Het
Hivep3 A G 4: 119,956,114 (GRCm39) K1477E probably benign Het
Igsf3 C T 3: 101,358,233 (GRCm39) T708M probably damaging Het
Ikzf4 T G 10: 128,477,119 (GRCm39) E64A probably benign Het
Klhl28 C T 12: 65,004,001 (GRCm39) E171K probably damaging Het
Krt87 T A 15: 101,389,105 (GRCm39) I76F probably damaging Het
Lat2 A G 5: 134,631,991 (GRCm39) V152A probably benign Het
Lrp12 C T 15: 39,741,852 (GRCm39) D288N probably damaging Het
Mdp1 C T 14: 55,896,683 (GRCm39) R126Q probably damaging Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Muc6 G A 7: 141,223,981 (GRCm39) probably benign Het
Myh4 T A 11: 67,144,358 (GRCm39) S1243T probably benign Het
Myo3b T A 2: 70,088,412 (GRCm39) F892I probably damaging Het
Nckap5l T C 15: 99,323,731 (GRCm39) N924S possibly damaging Het
Npnt C T 3: 132,612,218 (GRCm39) C218Y probably damaging Het
Or2a20 T A 6: 43,193,991 (GRCm39) I48N probably damaging Het
Or2d2b A T 7: 106,705,288 (GRCm39) M260K probably damaging Het
Or7a42 T A 10: 78,791,905 (GRCm39) F289I probably damaging Het
Pfkm G A 15: 98,020,570 (GRCm39) C233Y probably benign Het
Pigq A G 17: 26,153,177 (GRCm39) V338A probably benign Het
Pld4 A T 12: 112,734,484 (GRCm39) N415I possibly damaging Het
Pmm1 A T 15: 81,842,095 (GRCm39) probably null Het
Polg G T 7: 79,109,822 (GRCm39) P394T probably damaging Het
Polq A T 16: 36,882,749 (GRCm39) I1359L probably benign Het
Pramel30 A G 4: 144,057,836 (GRCm39) S148G probably benign Het
Pros1 A G 16: 62,748,548 (GRCm39) N674D possibly damaging Het
Psme4 T A 11: 30,806,896 (GRCm39) probably benign Het
Rasa3 A T 8: 13,634,959 (GRCm39) C453* probably null Het
Repin1 T C 6: 48,573,542 (GRCm39) V101A probably damaging Het
Rnf186 A T 4: 138,694,540 (GRCm39) M27L probably benign Het
Rpa1 A G 11: 75,204,125 (GRCm39) probably null Het
Rph3a G T 5: 121,083,454 (GRCm39) N605K probably damaging Het
Rps18 A T 17: 34,171,258 (GRCm39) probably null Het
Scgn A G 13: 24,174,958 (GRCm39) I20T probably damaging Het
Skint6 A T 4: 112,848,452 (GRCm39) V652E possibly damaging Het
Slc23a2 T C 2: 131,943,414 (GRCm39) H29R probably damaging Het
Slc34a3 C T 2: 25,120,854 (GRCm39) V383I possibly damaging Het
Slc5a1 A G 5: 33,309,917 (GRCm39) M382V possibly damaging Het
Slc5a3 T A 16: 91,874,169 (GRCm39) S75R probably damaging Het
Stat5b G C 11: 100,693,309 (GRCm39) H111D probably benign Het
Tanc2 G A 11: 105,515,886 (GRCm39) M1I probably null Het
Tbcel C T 9: 42,327,419 (GRCm39) G328E probably damaging Het
Tecta C A 9: 42,284,358 (GRCm39) R909L possibly damaging Het
Tnip1 A T 11: 54,828,810 (GRCm39) M119K probably benign Het
Zbbx A C 3: 75,058,755 (GRCm39) S51A possibly damaging Het
Zc3h12c T C 9: 52,028,000 (GRCm39) N454S probably benign Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S probably benign 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
R5364:2310022A10Rik UTSW 7 27,278,192 (GRCm39) missense probably damaging 1.00
R6119:2310022A10Rik UTSW 7 27,265,138 (GRCm39) nonsense probably null
R6991:2310022A10Rik UTSW 7 27,279,871 (GRCm39) missense probably damaging 1.00
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'- AAGCGTGTGTCCCTACTAGG -3'
(R):5'- GACTGGGGCTAAGCTAAAAGTC -3'

Sequencing Primer
(F):5'- CCCTACTAGGACAGTTCTCACTGG -3'
(R):5'- CTGGGGCTAAGCTAAAAGTCAGATG -3'
Posted On 2016-06-06