Incidental Mutation 'R6892:4933421I07Rik'
ID538105
Institutional Source Beutler Lab
Gene Symbol 4933421I07Rik
Ensembl Gene ENSMUSG00000030463
Gene NameRIKEN cDNA 4933421I07 gene
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #R6892 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location42445462-42448120 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 42446407 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 139 (Q139R)
Ref Sequence ENSEMBL: ENSMUSP00000032648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032648]
Predicted Effect probably benign
Transcript: ENSMUST00000032648
AA Change: Q139R

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032648
Gene: ENSMUSG00000030463
AA Change: Q139R

DomainStartEndE-ValueType
Pfam:RasGEF_N 68 160 2.6e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
Validation Efficiency 96% (54/56)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1520401A03Rik A G 17: 23,712,354 L193P probably damaging Het
4930442H23Rik C A 10: 81,183,144 probably benign Het
A930002H24Rik C T 17: 63,863,764 V10M unknown Het
Acvr2a T A 2: 48,897,075 L394Q probably damaging Het
Ano6 T C 15: 95,967,624 Y830H probably damaging Het
Atp8b4 T A 2: 126,343,002 I914F possibly damaging Het
Cab39 A G 1: 85,848,377 D265G probably damaging Het
Capn5 A T 7: 98,135,941 W109R probably damaging Het
Cdk18 G T 1: 132,122,110 T44K probably benign Het
Cdt1 T A 8: 122,570,212 N248K probably damaging Het
Cpa4 G T 6: 30,583,629 R248L probably benign Het
Cpt1a G A 19: 3,371,660 V481M probably benign Het
Cyp3a11 G A 5: 145,860,448 L374F probably damaging Het
Dcdc2a A G 13: 25,056,460 N64D probably damaging Het
Dmxl1 G A 18: 49,920,902 R2525Q probably damaging Het
Dscaml1 G A 9: 45,683,830 V744M probably damaging Het
Dync1h1 G A 12: 110,638,901 E2391K probably benign Het
Ezh1 A T 11: 101,199,361 Y522* probably null Het
Fzd3 G C 14: 65,209,881 A533G possibly damaging Het
Gm14403 T G 2: 177,509,247 C329G probably damaging Het
Gm17067 A C 7: 42,710,675 probably null Het
Gm38119 A G 3: 92,738,222 C22R unknown Het
Gtf3c3 A G 1: 54,415,941 S588P probably benign Het
Ift140 A G 17: 25,020,546 E59G possibly damaging Het
Ints1 A T 5: 139,767,828 M683K probably damaging Het
Iws1 A G 18: 32,086,274 M470V probably damaging Het
Mptx1 A G 1: 174,332,265 R46G probably benign Het
Nhsl1 C T 10: 18,524,343 T439I probably damaging Het
Olfr517 A G 7: 108,868,515 L213P probably damaging Het
Peg3 C T 7: 6,708,899 S1108N possibly damaging Het
Pgm2 A G 4: 99,929,708 E48G probably benign Het
Pkhd1 G A 1: 20,523,515 T1458I probably damaging Het
Polr1a A T 6: 71,964,712 D1068V possibly damaging Het
Ptprq T C 10: 107,576,004 T1834A probably benign Het
Rapgef1 T C 2: 29,699,840 probably null Het
Rgl1 A T 1: 152,539,940 D409E probably benign Het
Rgsl1 G T 1: 153,821,499 Y558* probably null Het
Rock1 C T 18: 10,122,612 R403H probably benign Het
Scn11a T A 9: 119,806,969 D304V possibly damaging Het
Sdk1 A T 5: 142,046,298 I1043F probably benign Het
Sgms2 A G 3: 131,342,154 Y24H probably benign Het
Sppl2a A G 2: 126,913,575 I372T probably damaging Het
Sptbn1 A G 11: 30,142,187 M526T probably benign Het
Stxbp5l A T 16: 37,188,629 S683T possibly damaging Het
Syk A T 13: 52,632,898 R332S probably benign Het
Syne2 T A 12: 75,962,528 V2401E probably damaging Het
Tarm1 T C 7: 3,497,490 Y87C probably damaging Het
Tbc1d22b A G 17: 29,595,890 K378E possibly damaging Het
Tcte1 A G 17: 45,533,157 T20A probably benign Het
Tor1aip2 A T 1: 156,065,181 Y411F possibly damaging Het
Trim43c T A 9: 88,844,924 M267K probably benign Het
Ubr2 T G 17: 46,934,108 Y1664S probably damaging Het
Uhrf1bp1l G A 10: 89,805,123 V719I probably benign Het
Vmn1r41 C A 6: 89,747,181 Q235K possibly damaging Het
Wdr17 T C 8: 54,673,596 T401A probably damaging Het
Zfp454 A G 11: 50,873,198 L469P probably damaging Het
Other mutations in 4933421I07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:4933421I07Rik APN 7 42447699 missense probably benign
IGL01653:4933421I07Rik APN 7 42446974 missense probably damaging 1.00
IGL01918:4933421I07Rik APN 7 42447674 missense probably benign 0.39
IGL02514:4933421I07Rik APN 7 42447557 missense probably damaging 0.99
R1330:4933421I07Rik UTSW 7 42447594 missense probably benign 0.19
R2219:4933421I07Rik UTSW 7 42446345 missense probably damaging 1.00
R4779:4933421I07Rik UTSW 7 42448031 missense possibly damaging 0.92
R4952:4933421I07Rik UTSW 7 42447659 missense possibly damaging 0.59
R6026:4933421I07Rik UTSW 7 42446284 missense probably benign 0.06
R6141:4933421I07Rik UTSW 7 42448059 missense probably damaging 1.00
R6332:4933421I07Rik UTSW 7 42446243 missense possibly damaging 0.60
R7284:4933421I07Rik UTSW 7 42447980 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTCCTACCTTGTCAAGCAG -3'
(R):5'- CCTCCAAGGGACAGAAAGTG -3'

Sequencing Primer
(F):5'- TACCTTGTCAAGCAGCCAAC -3'
(R):5'- AAAGTGTCTGGAGTCCTCTGCAC -3'
Posted On2018-11-06