Incidental Mutation 'R6488:4933406M09Rik'
ID522466
Institutional Source Beutler Lab
Gene Symbol 4933406M09Rik
Ensembl Gene ENSMUSG00000050526
Gene NameRIKEN cDNA 4933406M09 gene
Synonyms
MMRRC Submission
Accession Numbers

NCBI RefSeq: NM_173771.4; MGI: 3045320

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6488 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location134385940-134390981 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 134390888 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 466 (V466D)
Ref Sequence ENSEMBL: ENSMUSP00000124251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162187]
Predicted Effect probably damaging
Transcript: ENSMUST00000162187
AA Change: V466D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124251
Gene: ENSMUSG00000050526
AA Change: V466D

DomainStartEndE-ValueType
Pfam:Glyco_transf_54 52 326 7.6e-79 PFAM
low complexity region 395 405 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
Validation Efficiency 96% (65/68)
Allele List at MGI

All alleles(6) : Targeted(2) Gene trapped(4)

 

Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,625,874 Q334* probably null Het
Abhd15 T C 11: 77,516,022 F275S possibly damaging Het
Adamts7 A G 9: 90,171,482 T27A probably benign Het
Ankar A G 1: 72,681,808 probably null Het
Ap2a2 T C 7: 141,602,307 V183A probably benign Het
Arhgef37 G A 18: 61,518,052 A134V probably benign Het
Col3a1 C A 1: 45,331,534 probably benign Het
Cxcr5 A G 9: 44,513,979 V127A probably damaging Het
Eif4b T A 15: 102,092,987 probably benign Het
Ext2 A G 2: 93,806,085 V228A probably damaging Het
Fam83h T C 15: 76,002,053 E1145G possibly damaging Het
Fcgbp A G 7: 28,093,538 D989G probably damaging Het
Fchsd1 T C 18: 37,967,268 probably null Het
Fcnb T C 2: 28,078,289 K219E probably damaging Het
Fndc7 T C 3: 108,870,575 E355G probably damaging Het
Glis3 T C 19: 28,298,853 H746R probably benign Het
Glod4 A G 11: 76,237,785 V74A probably damaging Het
Gm10436 T C 12: 88,177,587 H152R possibly damaging Het
Gpc6 T C 14: 117,964,713 I445T possibly damaging Het
Hdlbp T C 1: 93,428,224 D337G probably damaging Het
Hnf1a T C 5: 114,955,961 T190A probably benign Het
Iqgap1 G C 7: 80,730,326 T1129R probably benign Het
Kcnc3 T C 7: 44,595,182 F299L possibly damaging Het
Kif1bp C A 10: 62,559,658 probably null Het
Kif26b T C 1: 178,529,573 V4A unknown Het
Klra9 G T 6: 130,179,032 Y253* probably null Het
Krtap4-1 G T 11: 99,628,077 R36S unknown Het
Lman1l A G 9: 57,620,643 S10P possibly damaging Het
Lrpprc T C 17: 84,751,353 N693S probably damaging Het
Lrrc49 A T 9: 60,602,633 F157L probably damaging Het
Mettl22 T C 16: 8,487,361 F293L probably damaging Het
Mga T A 2: 119,960,907 N2424K probably damaging Het
Mpdz G T 4: 81,287,733 A1784E probably benign Het
Mpv17l G A 16: 13,946,588 probably null Het
Mtus1 G A 8: 41,041,508 S29L possibly damaging Het
Myo15 A T 11: 60,478,487 H691L possibly damaging Het
Nbea T C 3: 55,717,843 T2276A probably damaging Het
Npas4 A G 19: 4,985,983 S718P probably damaging Het
Ntrk2 T A 13: 58,861,356 N320K possibly damaging Het
Nup214 T A 2: 31,991,372 I414N possibly damaging Het
Oas2 A G 5: 120,738,363 F15S probably damaging Het
Olfr1474 T C 19: 13,471,617 Y216H probably damaging Het
Olfr625-ps1 T C 7: 103,683,078 I110T probably damaging Het
Pabpc6 A G 17: 9,669,599 Y8H probably damaging Het
Pbx1 T A 1: 168,191,395 N294Y probably damaging Het
Pcyt1a T C 16: 32,467,081 M190T probably damaging Het
Pogk T C 1: 166,399,422 I387V possibly damaging Het
Ppp6r2 T C 15: 89,268,538 L294P probably benign Het
Ptprn2 T A 12: 116,872,038 I331K probably benign Het
Ptpro T G 6: 137,393,675 Y591* probably null Het
Ptprz1 T A 6: 23,001,517 L1202* probably null Het
Rab37 A G 11: 115,157,963 T73A probably benign Het
Rad51ap2 T G 12: 11,458,160 S694R possibly damaging Het
Rb1cc1 T A 1: 6,270,727 D148E probably damaging Het
Rraga G A 4: 86,576,328 R137H probably damaging Het
Serpinf2 A G 11: 75,437,503 V73A probably benign Het
Siglec1 T C 2: 131,081,307 N506S probably damaging Het
Slc35e4 T C 11: 3,912,602 T196A possibly damaging Het
St6galnac3 C T 3: 153,411,757 A110T probably damaging Het
Thsd1 T C 8: 22,243,717 V260A probably benign Het
Tpbg T A 9: 85,844,485 V169D possibly damaging Het
Trav16n A G 14: 53,351,585 E106G probably benign Het
Vmn1r219 T C 13: 23,162,965 I108T probably benign Het
Vmn2r50 T C 7: 10,037,717 I686V probably damaging Het
Zdhhc20 C T 14: 57,840,832 R329K probably benign Het
Zfp64 A G 2: 168,935,209 probably null Het
Zfp941 C T 7: 140,812,750 R232H probably benign Het
Other mutations in 4933406M09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01554:4933406M09Rik APN 1 134389958 missense probably damaging 1.00
IGL01862:4933406M09Rik APN 1 134390611 missense probably benign 0.03
P0005:4933406M09Rik UTSW 1 134387908 missense probably benign 0.00
R0498:4933406M09Rik UTSW 1 134390872 missense possibly damaging 0.69
R0563:4933406M09Rik UTSW 1 134390039 missense probably benign 0.00
R0731:4933406M09Rik UTSW 1 134389975 missense probably benign
R1558:4933406M09Rik UTSW 1 134390774 missense probably damaging 1.00
R2146:4933406M09Rik UTSW 1 134390513 missense probably damaging 1.00
R2148:4933406M09Rik UTSW 1 134390513 missense probably damaging 1.00
R2901:4933406M09Rik UTSW 1 134390924 missense probably damaging 0.99
R3897:4933406M09Rik UTSW 1 134390438 missense possibly damaging 0.92
R4543:4933406M09Rik UTSW 1 134389793 missense probably benign 0.31
R4937:4933406M09Rik UTSW 1 134389976 missense probably benign 0.00
R5490:4933406M09Rik UTSW 1 134389928 missense probably damaging 1.00
R5684:4933406M09Rik UTSW 1 134389922 missense probably benign 0.04
R5823:4933406M09Rik UTSW 1 134390917 missense probably damaging 0.98
R7177:4933406M09Rik UTSW 1 134390425 missense probably benign 0.08
R7201:4933406M09Rik UTSW 1 134390468 missense possibly damaging 0.69
R7671:4933406M09Rik UTSW 1 134390062 missense probably benign 0.27
R7749:4933406M09Rik UTSW 1 134390512 missense probably benign 0.45
Predicted Primers PCR Primer
(F):5'- GCTACAGCCCCATGGAATAC -3'
(R):5'- CTGACTACACAGCTCTCCTGAC -3'

Sequencing Primer
(F):5'- TGGAATACCCCCAACGCTGTG -3'
(R):5'- ACAGGCCGATCTTACAGAGGTTC -3'
Posted On2018-06-06