Incidental Mutation 'R1697:4930486L24Rik'
ID192353
Institutional Source Beutler Lab
Gene Symbol 4930486L24Rik
Ensembl Gene ENSMUSG00000050345
Gene NameRIKEN cDNA 4930486L24 gene
Synonyms
MMRRC Submission 039730-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #R1697 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location60842612-60864475 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 60845114 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 250 (D250E)
Ref Sequence ENSEMBL: ENSMUSP00000089157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091569] [ENSMUST00000225690]
Predicted Effect probably damaging
Transcript: ENSMUST00000091569
AA Change: D250E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000089157
Gene: ENSMUSG00000050345
AA Change: D250E

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Inhibitor_I29 29 88 1e-19 SMART
Pept_C1 114 332 7.93e-112 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000225690
Meta Mutation Damage Score 0.3890 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930571K23Rik A G 7: 125,369,029 noncoding transcript Het
9530053A07Rik T A 7: 28,154,347 C1579S probably damaging Het
Acsl3 T C 1: 78,705,397 probably benign Het
Acsl6 C A 11: 54,329,966 T244K probably damaging Het
Adam26b T A 8: 43,520,963 N334I probably damaging Het
Adgrl4 C T 3: 151,517,611 T608M probably damaging Het
Aldh2 A G 5: 121,578,341 probably null Het
Alms1 A G 6: 85,622,454 T1890A possibly damaging Het
C87977 A C 4: 144,208,592 I193S probably damaging Het
Capn7 C T 14: 31,360,160 T441M probably damaging Het
Cd9 A T 6: 125,464,404 C85S probably damaging Het
Chrm3 T C 13: 9,878,758 T81A probably damaging Het
Ctif A G 18: 75,624,305 probably benign Het
Dcc T A 18: 71,370,737 D950V probably damaging Het
Eif4g1 T C 16: 20,679,780 V422A probably damaging Het
Enthd1 A G 15: 80,452,923 S437P probably damaging Het
Fads1 A G 19: 10,194,100 probably benign Het
Fat3 T A 9: 15,944,880 I3869L probably benign Het
Fbxw5 T A 2: 25,502,461 V85E possibly damaging Het
Fem1b T C 9: 62,797,174 D268G possibly damaging Het
Focad T C 4: 88,408,988 L1772P probably damaging Het
Gm9573 A C 17: 35,620,648 probably benign Het
Gm9833 G A 3: 10,089,553 V461I possibly damaging Het
Gtf3a C A 5: 146,951,913 Q145K possibly damaging Het
Hacl1 T C 14: 31,621,000 probably null Het
Herc2 T A 7: 56,153,905 F2229L probably benign Het
Hs3st4 A T 7: 124,396,857 I249L probably benign Het
Iqsec1 A T 6: 90,809,770 Y7* probably null Het
Klk1b1 T A 7: 43,970,326 M103K probably benign Het
Krt5 A G 15: 101,710,585 V287A probably benign Het
Lgals12 T A 19: 7,604,165 Q59L possibly damaging Het
Loxl4 A G 19: 42,604,940 V264A possibly damaging Het
Lrmp A G 6: 145,137,615 probably benign Het
Lrp1b T C 2: 40,822,683 D3099G probably damaging Het
Mical3 G A 6: 121,007,408 T169I possibly damaging Het
Myh7b A C 2: 155,620,134 S317R probably damaging Het
Nrbp1 T A 5: 31,245,813 I210N probably damaging Het
Nsd1 A T 13: 55,214,059 probably null Het
Nupl1 A T 14: 60,244,670 probably benign Het
Olfr152 T A 2: 87,782,585 I15N possibly damaging Het
Olfr190 A G 16: 59,074,907 Y58H probably damaging Het
Olfr331 A T 11: 58,501,676 S293R probably damaging Het
Olfr346 C T 2: 36,688,247 L82F probably damaging Het
Olfr769 T C 10: 129,111,868 T186A probably benign Het
Pcnx2 A G 8: 125,850,348 Y982H probably damaging Het
Pias3 T C 3: 96,702,225 L312P probably damaging Het
Plekhm1 G A 11: 103,376,884 P754S probably damaging Het
Ppp2r5c T A 12: 110,545,623 L145* probably null Het
Ppp2r5c T A 12: 110,561,472 probably benign Het
Proser3 T C 7: 30,540,021 M553V probably benign Het
Shf G A 2: 122,368,682 P51S probably damaging Het
Smurf2 A T 11: 106,824,688 D664E possibly damaging Het
Spag9 G A 11: 93,996,565 A99T probably benign Het
Stim1 T G 7: 102,354,506 C49G probably damaging Het
Stk32c T C 7: 139,121,824 I238V probably benign Het
Tenm2 C T 11: 36,063,177 G1236R possibly damaging Het
Tfb2m T A 1: 179,544,899 E133V probably null Het
Tmem209 A T 6: 30,497,868 C143S probably benign Het
Tnr T G 1: 159,852,030 N191K probably benign Het
Vars C T 17: 34,998,222 A419T probably benign Het
Vmn2r111 T C 17: 22,548,060 S819G probably benign Het
Wls T C 3: 159,897,358 V136A probably benign Het
Ybx2 C T 11: 69,940,061 S217L probably benign Het
Zfp82 T C 7: 30,057,354 D37G probably benign Het
Other mutations in 4930486L24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:4930486L24Rik APN 13 60854859 missense probably benign 0.00
IGL01325:4930486L24Rik APN 13 60853533 missense probably damaging 1.00
IGL02290:4930486L24Rik APN 13 60853530 missense probably damaging 1.00
IGL02861:4930486L24Rik APN 13 60853332 splice site probably benign
PIT4514001:4930486L24Rik UTSW 13 60853514 critical splice donor site probably null
R0110:4930486L24Rik UTSW 13 60853506 splice site probably benign
R1396:4930486L24Rik UTSW 13 60853243 missense probably benign 0.00
R1471:4930486L24Rik UTSW 13 60853522 missense probably damaging 1.00
R1688:4930486L24Rik UTSW 13 60854881 missense probably benign 0.00
R3838:4930486L24Rik UTSW 13 60845227 missense probably damaging 1.00
R4714:4930486L24Rik UTSW 13 60844318 missense probably damaging 1.00
R4976:4930486L24Rik UTSW 13 60853573 nonsense probably null
R5072:4930486L24Rik UTSW 13 60853600 missense probably benign 0.00
R5107:4930486L24Rik UTSW 13 60853658 missense possibly damaging 0.62
R5699:4930486L24Rik UTSW 13 60853596 missense possibly damaging 0.92
R6092:4930486L24Rik UTSW 13 60853647 missense probably benign 0.01
R6787:4930486L24Rik UTSW 13 60853108 missense probably benign
R6800:4930486L24Rik UTSW 13 60845134 missense probably damaging 1.00
R7349:4930486L24Rik UTSW 13 60842903 missense possibly damaging 0.52
R7390:4930486L24Rik UTSW 13 60844338 missense probably benign 0.00
R7580:4930486L24Rik UTSW 13 60845226 missense probably damaging 0.97
R7589:4930486L24Rik UTSW 13 60842933 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTAAAGACAGTTGCTTGGTTGCAC -3'
(R):5'- TGGCAACGAATGAATCTCTTTCCCC -3'

Sequencing Primer
(F):5'- GCTTGGTTGCACACAAAAAATC -3'
(R):5'- AACGAATGAATCTCTTTCCCCTTAAC -3'
Posted On2014-05-14