Incidental Mutation 'R6051:Gm5617'
ID 484094
Institutional Source Beutler Lab
Gene Symbol Gm5617
Ensembl Gene ENSMUSG00000042293
Gene Name predicted gene 5617
Synonyms
MMRRC Submission 044219-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.019) question?
Stock # R6051 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 48406742-48407272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48407187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 107 (L107P)
Ref Sequence ENSEMBL: ENSMUSP00000040380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048824] [ENSMUST00000170000] [ENSMUST00000213276] [ENSMUST00000214923]
AlphaFold Q91VN2
Predicted Effect possibly damaging
Transcript: ENSMUST00000048824
AA Change: L107P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040380
Gene: ENSMUSG00000042293
AA Change: L107P

DomainStartEndE-ValueType
Pfam:DUF4687 1 106 1.3e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170000
SMART Domains Protein: ENSMUSP00000126374
Gene: ENSMUSG00000042396

DomainStartEndE-ValueType
RRM 11 83 4.59e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213525
Predicted Effect probably benign
Transcript: ENSMUST00000214923
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,231,304 (GRCm39) A1021S possibly damaging Het
Abl2 A G 1: 156,469,655 (GRCm39) D869G probably damaging Het
Adamts9 G A 6: 92,836,907 (GRCm39) A615V possibly damaging Het
Adamts9 A G 6: 92,867,099 (GRCm39) Y96H probably damaging Het
Arhgef37 A G 18: 61,640,345 (GRCm39) I238T probably damaging Het
Atr T A 9: 95,790,422 (GRCm39) H1587Q possibly damaging Het
BB014433 T C 8: 15,092,179 (GRCm39) T225A possibly damaging Het
Bcas2 T C 3: 103,081,657 (GRCm39) Y87H possibly damaging Het
Brca1 C T 11: 101,415,072 (GRCm39) E160K probably damaging Het
Cd2ap T C 17: 43,107,219 (GRCm39) *638W probably null Het
Chd2 A T 7: 73,085,590 (GRCm39) D1681E probably benign Het
Cit C T 5: 115,984,464 (GRCm39) P12L probably benign Het
Cracdl G T 1: 37,663,306 (GRCm39) P864Q probably damaging Het
Crisp1 T C 17: 40,616,017 (GRCm39) Y120C possibly damaging Het
Cyp2c65 A G 19: 39,049,610 (GRCm39) D46G probably benign Het
Cyp2d34 A T 15: 82,500,971 (GRCm39) V387D probably damaging Het
E130311K13Rik T C 3: 63,823,062 (GRCm39) H194R probably benign Het
Egfr C A 11: 16,833,607 (GRCm39) T625N possibly damaging Het
Fat3 A G 9: 16,286,751 (GRCm39) V924A possibly damaging Het
Fgd6 T C 10: 93,973,427 (GRCm39) probably null Het
Galnt6 A T 15: 100,592,549 (GRCm39) C553S probably damaging Het
Hectd1 G T 12: 51,800,887 (GRCm39) T2035N probably benign Het
Hp1bp3 A G 4: 137,961,615 (GRCm39) T154A possibly damaging Het
Il10rb A G 16: 91,218,752 (GRCm39) T262A probably benign Het
Kansl1l A T 1: 66,765,885 (GRCm39) N704K probably null Het
Kbtbd12 T C 6: 88,594,930 (GRCm39) D300G possibly damaging Het
Lama4 G A 10: 38,943,898 (GRCm39) A734T probably benign Het
Mllt6 G T 11: 97,571,569 (GRCm39) G1069* probably null Het
Mns1 T C 9: 72,356,735 (GRCm39) L302P probably damaging Het
Muc5ac T A 7: 141,365,594 (GRCm39) C2039S possibly damaging Het
Myof A G 19: 38,012,809 (GRCm39) L42P probably damaging Het
Ncoa3 T C 2: 165,900,685 (GRCm39) L868S probably damaging Het
Ndc80 C T 17: 71,824,573 (GRCm39) G212E probably benign Het
Ntn4 A G 10: 93,581,657 (GRCm39) H610R probably benign Het
Nufip2 T A 11: 77,582,742 (GRCm39) Y219N probably damaging Het
Or51m1 T C 7: 103,578,084 (GRCm39) F18S probably damaging Het
Pbxip1 T C 3: 89,350,477 (GRCm39) S41P probably benign Het
Phactr2 A T 10: 13,137,555 (GRCm39) C196S probably null Het
Ppp3ca T A 3: 136,581,883 (GRCm39) Y140N probably damaging Het
Ptprb C A 10: 116,176,995 (GRCm39) Y1260* probably null Het
Rap1a C T 3: 105,657,613 (GRCm39) R2H possibly damaging Het
Rbbp8 G A 18: 11,871,664 (GRCm39) V794I probably benign Het
Rbks T C 5: 31,809,163 (GRCm39) N200S probably damaging Het
Relch G T 1: 105,648,997 (GRCm39) G712V probably damaging Het
Rnf186 G T 4: 138,695,277 (GRCm39) K272N probably damaging Het
Rtl1 G A 12: 109,559,458 (GRCm39) P794S probably damaging Het
Tbc1d30 T A 10: 121,132,750 (GRCm39) I205F probably damaging Het
Tkt C T 14: 30,290,153 (GRCm39) P261S probably benign Het
Trp53 G A 11: 69,480,434 (GRCm39) R267H possibly damaging Het
Ttc14 T C 3: 33,863,073 (GRCm39) probably benign Het
Ttn A G 2: 76,737,805 (GRCm39) S4245P probably benign Het
Vmn1r75 A T 7: 11,614,978 (GRCm39) I237F probably damaging Het
Vmn2r57 T A 7: 41,097,896 (GRCm39) H57L probably benign Het
Wdr62 T C 7: 29,960,809 (GRCm39) N40S possibly damaging Het
Xcr1 A T 9: 123,685,181 (GRCm39) F194I probably benign Het
Zmiz1 T A 14: 25,572,494 (GRCm39) M1K probably null Het
Other mutations in Gm5617
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2134:Gm5617 UTSW 9 48,407,117 (GRCm39) missense possibly damaging 0.86
R4629:Gm5617 UTSW 9 48,407,187 (GRCm39) missense possibly damaging 0.96
R4858:Gm5617 UTSW 9 48,406,968 (GRCm39) missense possibly damaging 0.92
R5318:Gm5617 UTSW 9 48,407,211 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- ACTAGGCTGGATCCGAATCAG -3'
(R):5'- GGATGGATATTAAGCCCCTCG -3'

Sequencing Primer
(F):5'- ATCCGAATCAGCCGGGAC -3'
(R):5'- AAAATGTGTGTCACTATGCCCGG -3'
Posted On 2017-07-14