Incidental Mutation 'R9419:Gm5114'
ID 712226
Institutional Source Beutler Lab
Gene Symbol Gm5114
Ensembl Gene ENSMUSG00000053742
Gene Name predicted gene 5114
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R9419 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 39056718-39062584 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39057540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 693 (H693R)
Ref Sequence ENSEMBL: ENSMUSP00000103652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108017]
AlphaFold W4VSN8
Predicted Effect possibly damaging
Transcript: ENSMUST00000108017
AA Change: H693R

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103652
Gene: ENSMUSG00000053742
AA Change: H693R

DomainStartEndE-ValueType
Pfam:DUF4629 435 580 2.5e-65 PFAM
low complexity region 709 726 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (47/47)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700064H15Rik T C 3: 19,682,685 (GRCm39) T30A unknown Het
Abca12 A G 1: 71,342,649 (GRCm39) Y944H possibly damaging Het
Adgrv1 T C 13: 81,656,887 (GRCm39) N2869S probably benign Het
Ank1 C A 8: 23,574,825 (GRCm39) Q140K probably damaging Het
Aspm T A 1: 139,384,923 (GRCm39) M189K probably benign Het
Atp2b1 G T 10: 98,837,178 (GRCm39) R539L possibly damaging Het
Camsap1 A G 2: 25,845,304 (GRCm39) S152P Het
Catsperd A T 17: 56,958,821 (GRCm39) I276L probably benign Het
Cbarp A G 10: 79,967,861 (GRCm39) V460A probably damaging Het
Ccdc168 T C 1: 44,096,935 (GRCm39) I1388V probably benign Het
Cd40 A T 2: 164,904,162 (GRCm39) probably benign Het
Cdk11b A T 4: 155,724,302 (GRCm39) T307S unknown Het
Chfr C T 5: 110,317,056 (GRCm39) T643I probably damaging Het
Cnbd1 T C 4: 19,098,156 (GRCm39) Q88R probably benign Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Ghdc G T 11: 100,661,081 (GRCm39) A28D probably damaging Het
H2-M1 G T 17: 36,981,231 (GRCm39) A268E probably damaging Het
Hsf5 A G 11: 87,528,935 (GRCm39) N557D probably benign Het
Ighg2c A G 12: 113,251,015 (GRCm39) probably benign Het
Il17ra C A 6: 120,458,255 (GRCm39) Q469K possibly damaging Het
Ipo8 T A 6: 148,686,064 (GRCm39) N809Y probably benign Het
Klra10 T A 6: 130,256,435 (GRCm39) Q73L probably damaging Het
Lamb2 T C 9: 108,356,959 (GRCm39) V3A unknown Het
Map3k9 T C 12: 81,827,341 (GRCm39) Y103C probably damaging Het
Map4 T C 9: 109,882,029 (GRCm39) S298P possibly damaging Het
Mtus2 T A 5: 148,243,451 (GRCm39) N1254K probably damaging Het
Nap1l5 T A 6: 58,883,952 (GRCm39) M1L probably benign Het
Nfxl1 G A 5: 72,716,641 (GRCm39) probably benign Het
Nmd3 T C 3: 69,643,349 (GRCm39) I227T probably benign Het
Or8c10 T G 9: 38,279,162 (GRCm39) C97G probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Ptchd3 G A 11: 121,732,356 (GRCm39) M415I possibly damaging Het
Rab28 A T 5: 41,793,182 (GRCm39) S154R possibly damaging Het
Rin1 A G 19: 5,103,735 (GRCm39) E567G probably damaging Het
Rrbp1 A C 2: 143,811,436 (GRCm39) V806G probably benign Het
Sec63 T A 10: 42,679,901 (GRCm39) L326Q probably damaging Het
Serinc2 T C 4: 130,149,315 (GRCm39) T296A probably damaging Het
Skint10 G A 4: 112,572,981 (GRCm39) L272F probably damaging Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Stag1 A G 9: 100,811,967 (GRCm39) Q815R probably benign Het
Stat3 A G 11: 100,780,357 (GRCm39) M735T possibly damaging Het
Stat3 A G 11: 100,784,738 (GRCm39) I576T probably benign Het
Styxl2 T C 1: 165,927,755 (GRCm39) Q619R probably damaging Het
Syne1 T C 10: 5,155,071 (GRCm39) K5623E probably benign Het
Tas1r2 T C 4: 139,387,036 (GRCm39) V165A possibly damaging Het
Tcaf3 A T 6: 42,573,716 (GRCm39) D165E probably benign Het
Tex2 G A 11: 106,457,835 (GRCm39) Q532* probably null Het
Utrn T C 10: 12,564,125 (GRCm39) E1245G probably damaging Het
Other mutations in Gm5114
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Gm5114 APN 7 39,060,071 (GRCm39) splice site probably benign
IGL01295:Gm5114 APN 7 39,057,241 (GRCm39) missense probably damaging 1.00
IGL01349:Gm5114 APN 7 39,058,531 (GRCm39) missense probably benign
IGL01633:Gm5114 APN 7 39,057,490 (GRCm39) missense probably benign
IGL01634:Gm5114 APN 7 39,058,071 (GRCm39) missense probably benign
IGL02072:Gm5114 APN 7 39,060,826 (GRCm39) missense probably benign 0.00
FR4304:Gm5114 UTSW 7 39,060,530 (GRCm39) missense probably benign 0.00
FR4304:Gm5114 UTSW 7 39,060,529 (GRCm39) missense probably benign
R0034:Gm5114 UTSW 7 39,058,282 (GRCm39) missense possibly damaging 0.83
R0127:Gm5114 UTSW 7 39,057,880 (GRCm39) missense probably benign 0.00
R0328:Gm5114 UTSW 7 39,057,885 (GRCm39) missense probably damaging 1.00
R0387:Gm5114 UTSW 7 39,058,233 (GRCm39) missense probably benign 0.15
R0693:Gm5114 UTSW 7 39,058,188 (GRCm39) missense probably benign 0.00
R1006:Gm5114 UTSW 7 39,058,510 (GRCm39) missense probably damaging 1.00
R2039:Gm5114 UTSW 7 39,058,612 (GRCm39) missense probably damaging 1.00
R3433:Gm5114 UTSW 7 39,058,621 (GRCm39) missense probably benign 0.02
R3834:Gm5114 UTSW 7 39,058,161 (GRCm39) missense possibly damaging 0.69
R4320:Gm5114 UTSW 7 39,057,051 (GRCm39) missense probably damaging 1.00
R5214:Gm5114 UTSW 7 39,057,792 (GRCm39) missense probably benign 0.19
R5443:Gm5114 UTSW 7 39,058,289 (GRCm39) missense probably benign 0.00
R5471:Gm5114 UTSW 7 39,058,534 (GRCm39) nonsense probably null
R5707:Gm5114 UTSW 7 39,060,700 (GRCm39) missense probably benign 0.01
R6129:Gm5114 UTSW 7 39,058,024 (GRCm39) missense possibly damaging 0.71
R6234:Gm5114 UTSW 7 39,058,768 (GRCm39) missense probably benign 0.19
R6326:Gm5114 UTSW 7 39,057,579 (GRCm39) missense probably benign
R6443:Gm5114 UTSW 7 39,057,141 (GRCm39) missense possibly damaging 0.91
R6530:Gm5114 UTSW 7 39,057,514 (GRCm39) missense probably damaging 1.00
R6743:Gm5114 UTSW 7 39,057,997 (GRCm39) missense probably benign 0.42
R6770:Gm5114 UTSW 7 39,057,967 (GRCm39) missense possibly damaging 0.94
R6885:Gm5114 UTSW 7 39,057,580 (GRCm39) missense probably benign 0.01
R6980:Gm5114 UTSW 7 39,058,624 (GRCm39) missense probably benign 0.01
R7100:Gm5114 UTSW 7 39,057,708 (GRCm39) missense possibly damaging 0.52
R7215:Gm5114 UTSW 7 39,060,795 (GRCm39) missense probably benign 0.02
R7254:Gm5114 UTSW 7 39,058,390 (GRCm39) missense probably benign 0.35
R7343:Gm5114 UTSW 7 39,058,180 (GRCm39) missense probably damaging 1.00
R7366:Gm5114 UTSW 7 39,058,768 (GRCm39) missense possibly damaging 0.69
R7474:Gm5114 UTSW 7 39,057,404 (GRCm39) missense probably benign 0.01
R7499:Gm5114 UTSW 7 39,058,489 (GRCm39) missense possibly damaging 0.55
R8022:Gm5114 UTSW 7 39,058,800 (GRCm39) missense probably benign
R8121:Gm5114 UTSW 7 39,057,552 (GRCm39) missense probably benign 0.15
R8201:Gm5114 UTSW 7 39,060,373 (GRCm39) missense probably damaging 0.98
R8212:Gm5114 UTSW 7 39,060,676 (GRCm39) missense probably benign 0.18
R8321:Gm5114 UTSW 7 39,060,273 (GRCm39) missense possibly damaging 0.85
R8725:Gm5114 UTSW 7 39,060,657 (GRCm39) missense probably benign 0.17
R8752:Gm5114 UTSW 7 39,057,927 (GRCm39) missense probably damaging 0.99
R8891:Gm5114 UTSW 7 39,057,718 (GRCm39) missense probably benign 0.05
R8934:Gm5114 UTSW 7 39,060,553 (GRCm39) missense probably benign 0.14
R8969:Gm5114 UTSW 7 39,058,732 (GRCm39) missense probably damaging 1.00
R9158:Gm5114 UTSW 7 39,060,486 (GRCm39) missense probably damaging 0.97
R9453:Gm5114 UTSW 7 39,058,242 (GRCm39) missense probably damaging 0.99
Z1088:Gm5114 UTSW 7 39,057,871 (GRCm39) missense probably damaging 1.00
Z1177:Gm5114 UTSW 7 39,058,750 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GAGATGAAGCTCTGTAGGGTAC -3'
(R):5'- CAAAAGCCCAGGGAAGCTTC -3'

Sequencing Primer
(F):5'- TGTAGGGTACAGGCCTCGAG -3'
(R):5'- CCCAGGGAAGCTTCAGAGAGC -3'
Posted On 2022-05-16