Incidental Mutation 'R2848:A230050P20Rik'
ID251858
Institutional Source Beutler Lab
Gene Symbol A230050P20Rik
Ensembl Gene ENSMUSG00000038884
Gene NameRIKEN cDNA A230050P20 gene
Synonyms
MMRRC Submission 040441-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.320) question?
Stock #R2848 (G1)
Quality Score225
Status Not validated
Chromosome9
Chromosomal Location20868642-20874307 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 20873572 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 225 (H225L)
Ref Sequence ENSEMBL: ENSMUSP00000045384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043726] [ENSMUST00000043911]
Predicted Effect probably benign
Transcript: ENSMUST00000043726
SMART Domains Protein: ENSMUSP00000035784
Gene: ENSMUSG00000038742

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
coiled coil region 51 77 N/A INTRINSIC
coiled coil region 126 164 N/A INTRINSIC
low complexity region 180 197 N/A INTRINSIC
FBG 242 455 7.15e-88 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000043911
AA Change: H225L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045384
Gene: ENSMUSG00000038884
AA Change: H225L

DomainStartEndE-ValueType
Pfam:UPF0515 16 272 1.3e-127 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175820
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177067
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik A T 7: 126,830,722 F101Y possibly damaging Het
Abca17 G C 17: 24,289,507 T1018R probably damaging Het
Adamts14 T A 10: 61,218,435 Q606L probably damaging Het
Adgrf5 C A 17: 43,422,640 N118K possibly damaging Het
Baz2b A T 2: 59,924,666 Y1073N possibly damaging Het
Celf2 T C 2: 6,604,125 R282G probably damaging Het
Cntnap5c A T 17: 57,876,392 D31V probably damaging Het
Cobl A G 11: 12,378,342 L81P probably damaging Het
Cpsf1 A T 15: 76,602,851 L209Q probably damaging Het
Crocc G A 4: 141,018,756 A1684V probably damaging Het
Cyp4f37 T A 17: 32,629,125 C206S probably damaging Het
Diexf A T 1: 193,128,451 N81K probably benign Het
Dnah3 A G 7: 119,967,938 V2355A probably benign Het
Dnah6 T C 6: 73,129,331 K1756E probably benign Het
Fis1 T C 5: 136,963,117 I55T possibly damaging Het
Gm2381 G A 7: 42,820,407 P98S probably damaging Het
Gpr37 C T 6: 25,666,946 probably benign Het
Grin2a A G 16: 9,761,965 F145L possibly damaging Het
Htr4 T C 18: 62,428,126 S153P probably damaging Het
Igkv9-120 T A 6: 68,050,144 probably benign Het
Il12rb1 G A 8: 70,815,802 W396* probably null Het
Itga8 A T 2: 12,160,404 V798D probably damaging Het
Lfng T A 5: 140,611,867 D149E probably damaging Het
Magi2 A AG 5: 20,602,461 probably null Het
Mgam C A 6: 40,652,715 A86E possibly damaging Het
Myh4 A G 11: 67,248,633 N592S probably benign Het
Naa16 A G 14: 79,335,883 C816R probably damaging Het
Nek8 A G 11: 78,168,141 S513P probably damaging Het
Ociad1 A G 5: 73,294,351 probably null Het
Olfr1288 T C 2: 111,479,354 M190T probably benign Het
Olfr350 A G 2: 36,850,799 Y251C probably damaging Het
Olfr721-ps1 C T 14: 14,407,398 P57S probably damaging Het
Osbpl8 T A 10: 111,269,436 S251T probably benign Het
Pcdh7 G A 5: 57,720,276 G391E probably damaging Het
Pcdhga10 T A 18: 37,748,200 V338E possibly damaging Het
Pde4b C T 4: 102,601,545 A466V probably damaging Het
Peg10 C T 6: 4,756,912 probably benign Het
Poteg A T 8: 27,481,676 N406I probably benign Het
Ppargc1a A G 5: 51,473,809 F493L probably benign Het
Ptpra C A 2: 130,544,999 H603Q probably benign Het
Rnf10 T C 5: 115,249,112 D439G probably benign Het
Syt3 G A 7: 44,393,442 V383I probably benign Het
Tectb C G 19: 55,180,999 probably benign Het
Try5 C T 6: 41,313,476 V25I probably benign Het
Ttn G T 2: 76,919,207 Q3833K probably benign Het
Usp53 G A 3: 122,934,491 P814L probably benign Het
Vmn1r181 G T 7: 23,984,518 S136I possibly damaging Het
Vmn2r114 A T 17: 23,290,974 M844K probably benign Het
Vwa8 G T 14: 78,947,142 R360L probably benign Het
Xlr4b A T X: 73,215,332 Q25L probably null Het
Zfp532 T A 18: 65,656,626 H1045Q possibly damaging Het
Zfp985 G A 4: 147,583,011 W112* probably null Het
Other mutations in A230050P20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0669:A230050P20Rik UTSW 9 20873717 small deletion probably benign
R0943:A230050P20Rik UTSW 9 20872962 missense possibly damaging 0.81
R1500:A230050P20Rik UTSW 9 20873717 small deletion probably benign
R2483:A230050P20Rik UTSW 9 20873177 missense possibly damaging 0.93
R3055:A230050P20Rik UTSW 9 20873717 small deletion probably benign
R5089:A230050P20Rik UTSW 9 20868916 start codon destroyed probably benign 0.02
R5710:A230050P20Rik UTSW 9 20872896 missense possibly damaging 0.46
R7726:A230050P20Rik UTSW 9 20873165 missense possibly damaging 0.89
R7863:A230050P20Rik UTSW 9 20871376 missense possibly damaging 0.57
R7946:A230050P20Rik UTSW 9 20871376 missense possibly damaging 0.57
Predicted Primers PCR Primer
(F):5'- AGGTCCATATCCCCACTACCTG -3'
(R):5'- GTCTTCCTGTGTGCACCTAG -3'

Sequencing Primer
(F):5'- ACTACCTGTGAGTCTGTTTTTGTG -3'
(R):5'- TAGCCAGGGTCACTCTCG -3'
Posted On2014-12-04