Incidental Mutation 'R2146:4933406M09Rik'
ID233797
Institutional Source Beutler Lab
Gene Symbol 4933406M09Rik
Ensembl Gene ENSMUSG00000050526
Gene NameRIKEN cDNA 4933406M09 gene
Synonyms
MMRRC Submission 040149-MU
Accession Numbers

NCBI RefSeq: NM_173771.4; MGI: 3045320

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2146 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location134385940-134390981 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 134390513 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 341 (M341K)
Ref Sequence ENSEMBL: ENSMUSP00000124251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162187]
Predicted Effect probably damaging
Transcript: ENSMUST00000162187
AA Change: M341K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124251
Gene: ENSMUSG00000050526
AA Change: M341K

DomainStartEndE-ValueType
Pfam:Glyco_transf_54 52 326 7.6e-79 PFAM
low complexity region 395 405 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (84/85)
Allele List at MGI

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

 

Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A T 6: 124,347,844 probably null Het
9530002B09Rik T A 4: 122,689,405 C13* probably null Het
Abca12 C A 1: 71,263,488 V2191L probably benign Het
Adamts18 G C 8: 113,845,003 A116G possibly damaging Het
Anxa2 TCCC TCC 9: 69,489,754 probably null Het
Arfgef1 C T 1: 10,199,878 A349T probably benign Het
Arhgap6 A G X: 168,796,500 T94A probably benign Het
Arhgef5 T C 6: 43,283,318 S1413P probably damaging Het
Atg4c C A 4: 99,221,226 N143K possibly damaging Het
BC005561 T C 5: 104,518,991 F460L probably benign Het
C1qtnf12 A G 4: 155,966,465 N297S probably benign Het
Cadps2 G T 6: 23,838,999 probably benign Het
Ccdc185 G T 1: 182,747,520 H535N possibly damaging Het
Ccdc57 A G 11: 120,885,225 probably benign Het
Cd163 A G 6: 124,309,208 H239R probably damaging Het
Ceacam2 G T 7: 25,527,943 C166* probably null Het
Ces5a T A 8: 93,534,699 E33D probably benign Het
Chl1 T C 6: 103,715,401 probably null Het
Chsy3 G A 18: 59,176,472 V266I probably benign Het
Cpa5 G T 6: 30,626,822 R251L probably damaging Het
Cps1 A C 1: 67,152,379 probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,741,236 probably null Het
Cstf1 T C 2: 172,375,763 Y99H probably damaging Het
Cyp2j11 G A 4: 96,316,358 T317I probably damaging Het
Dennd3 C T 15: 73,523,496 T146M probably damaging Het
Dennd3 A T 15: 73,555,060 H762L probably benign Het
Dnah2 T C 11: 69,515,761 M552V probably benign Het
Dnajc22 T C 15: 99,104,383 V303A probably benign Het
Dtx2 T G 5: 136,030,610 L458R probably benign Het
Elmsan1 G T 12: 84,173,035 P382T probably damaging Het
Fat3 A T 9: 15,990,512 F3072L probably benign Het
Fgf5 T C 5: 98,275,550 *265R probably null Het
Fndc11 A G 2: 181,222,125 E241G probably damaging Het
Glb1 T C 9: 114,450,648 Y375H probably damaging Het
Gm4922 T G 10: 18,783,516 Q486P probably benign Het
Gm5786 A T 12: 59,081,298 noncoding transcript Het
Hepacam2 A T 6: 3,463,378 probably benign Het
Ints9 G A 14: 64,986,343 G89R possibly damaging Het
Iqcm T A 8: 75,888,613 W441R probably damaging Het
Itga10 T C 3: 96,651,492 L382P possibly damaging Het
Itga10 G T 3: 96,653,723 G635W probably damaging Het
Kbtbd2 A G 6: 56,779,090 Y554H probably damaging Het
Kif1b T C 4: 149,184,309 K1649R probably damaging Het
L1cam A T X: 73,861,141 F536Y probably damaging Het
Magee1 A T X: 105,122,958 D783V probably damaging Het
Marveld3 A T 8: 109,959,802 V144E probably benign Het
Mcam T C 9: 44,136,635 V59A probably damaging Het
Mdga2 C T 12: 66,868,741 E47K probably damaging Het
Metrn T A 17: 25,796,627 E38V probably damaging Het
Mfrp T C 9: 44,103,718 L314P probably benign Het
Mospd2 A G X: 164,956,477 probably null Het
Mycbp2 G A 14: 103,155,922 H3068Y probably damaging Het
Myh6 C T 14: 54,953,771 R871H probably damaging Het
Nup214 C T 2: 32,034,466 S1669F probably damaging Het
Olfr1104 T A 2: 87,021,665 N293I probably damaging Het
Olfr1465 T C 19: 13,314,121 T55A probably benign Het
Olfr156 A G 4: 43,821,178 F61S probably damaging Het
Parvb A G 15: 84,232,168 K33E possibly damaging Het
Pdcd11 A G 19: 47,104,752 M490V probably benign Het
Pet2 T C X: 89,406,277 D82G possibly damaging Het
Pkd2 A C 5: 104,455,590 probably benign Het
Reps1 T A 10: 18,093,313 D206E probably benign Het
Rimkla T A 4: 119,474,582 M140L possibly damaging Het
Rnf13 T G 3: 57,802,486 I150S probably null Het
Rxfp4 C T 3: 88,652,893 A84T probably damaging Het
Serpinb8 T A 1: 107,605,927 D237E probably benign Het
Sgo2b T G 8: 63,928,023 T592P probably benign Het
Slc35d1 A T 4: 103,205,152 I228N probably damaging Het
Slc39a1 T G 3: 90,249,450 H104Q probably benign Het
Slc6a6 T C 6: 91,735,180 V230A probably benign Het
Slc9a3 A G 13: 74,121,603 E30G probably benign Het
Slc9c1 A G 16: 45,593,464 Y985C probably benign Het
Supt6 A G 11: 78,230,932 F298S probably damaging Het
Tada2a T C 11: 84,079,629 D432G probably damaging Het
Tmem131 C A 1: 36,812,609 V938L probably benign Het
Tnpo3 A G 6: 29,589,036 V105A probably benign Het
Ttc7 T C 17: 87,346,707 probably benign Het
Ttn T C 2: 76,897,188 probably benign Het
Usp16 T C 16: 87,473,187 probably null Het
Usp36 A G 11: 118,268,665 L486S probably benign Het
Uty T C Y: 1,239,816 I72V probably benign Het
Vps51 A G 19: 6,068,134 V777A probably benign Het
Zfp160 A G 17: 21,026,982 K598R probably benign Het
Zfp39 T C 11: 58,890,332 N535D probably benign Het
Zfp804a A G 2: 82,258,664 T946A 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
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
R6488:4933406M09Rik UTSW 1 134390888 missense probably damaging 1.00
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'- AGGACATTCCCACTCACTTG -3'
(R):5'- GTATTCCATGGGGCTGTAGC -3'

Sequencing Primer
(F):5'- GCTTCTCTCTGAGTTCAGGC -3'
(R):5'- GTAGCCCAGTAATAGTTGCCCATG -3'
Posted On2014-10-01