Incidental Mutation 'R6234:Gm5114'
ID504817
Institutional Source Beutler Lab
Gene Symbol Gm5114
Ensembl Gene ENSMUSG00000053742
Gene Namepredicted gene 5114
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #R6234 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location39407294-39413160 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 39409344 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 284 (T284S)
Ref Sequence ENSEMBL: ENSMUSP00000103652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108017]
Predicted Effect probably benign
Transcript: ENSMUST00000108017
AA Change: T284S

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103652
Gene: ENSMUSG00000053742
AA Change: T284S

DomainStartEndE-ValueType
Pfam:DUF4629 435 580 2.5e-65 PFAM
low complexity region 709 726 N/A INTRINSIC
Meta Mutation Damage Score 0.1263 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,983,471 T2475A probably benign Het
Adgb A C 10: 10,353,080 probably null Het
Aldoart1 A G 4: 72,852,172 I78T probably damaging Het
Bcl2l2 A G 14: 54,884,788 D136G probably benign Het
Cd34 A T 1: 194,948,000 I81F probably damaging Het
Chmp1b T A 18: 67,206,098 *200R probably null Het
Clic6 T C 16: 92,499,222 S257P probably benign Het
Cnga4 T G 7: 105,407,699 Y336* probably null Het
Dnase1l1 C T X: 74,277,038 probably null Homo
Eef1akmt2 T C 7: 132,827,856 T215A probably damaging Het
Fbrsl1 G A 5: 110,378,051 T95I probably damaging Het
Fer1l6 T C 15: 58,560,639 I345T probably damaging Het
Fmn1 T C 2: 113,365,655 F567L unknown Het
Gabrg1 A T 5: 70,842,141 L22I probably benign Het
Gfm1 A G 3: 67,435,514 D127G probably damaging Het
Gm5346 T G 8: 43,625,912 N425T probably benign Het
Gm813 T A 16: 58,614,671 D97V probably benign Het
Gm9925 A T 18: 74,065,237 probably benign Het
Hc T C 2: 35,028,046 I742V probably benign Het
Heatr5a A T 12: 51,877,454 M1992K possibly damaging Het
Homer3 T C 8: 70,291,165 probably null Het
Hsf5 C G 11: 87,617,294 T8S probably benign Het
Hspa4 C T 11: 53,262,939 E702K probably benign Het
Il21r A G 7: 125,632,585 D395G probably damaging Het
Kctd14 T A 7: 97,458,012 V190E probably damaging Het
Mamdc4 C G 2: 25,570,080 G57A probably damaging Het
Mroh2a T C 1: 88,234,612 probably null Het
Mroh2a T C 1: 88,256,754 V1453A probably benign Het
Mtch1 A T 17: 29,340,511 probably null Het
Nasp G A 4: 116,622,782 A31V possibly damaging Het
Neil3 G T 8: 53,608,739 D202E probably damaging Het
Nfkb1 C T 3: 135,626,710 V95I possibly damaging Het
Ptpra T A 2: 130,537,588 M327K probably damaging Het
Ptprg C A 14: 12,213,747 F263L probably damaging Het
Sap30 A G 8: 57,485,118 V155A probably damaging Het
Serpinb2 G A 1: 107,524,771 V360M probably damaging Het
Stradb A G 1: 58,988,548 H79R probably damaging Het
Svep1 A T 4: 58,113,458 probably null Het
Tcaf2 A T 6: 42,630,374 H215Q probably benign Het
Tdrd5 A T 1: 156,293,377 S227T possibly damaging Het
Timmdc1 A T 16: 38,518,499 Y76* probably null Het
Tmbim4 T A 10: 120,221,723 probably null Het
Tpr A G 1: 150,418,039 K854R probably benign Het
Trav6-5 A G 14: 53,491,375 T30A probably benign Het
Trrap T A 5: 144,839,713 probably null Het
Ube2o A T 11: 116,539,490 S1141T probably benign Het
Usp54 T A 14: 20,583,450 K339I probably damaging Het
Vwf T G 6: 125,657,165 V202G unknown Het
Wdr7 T C 18: 63,724,132 L93P probably damaging Het
Zfp871 CCACAC CC 17: 32,775,520 probably null Het
Other mutations in Gm5114
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Gm5114 APN 7 39410647 splice site probably benign
IGL01295:Gm5114 APN 7 39407817 missense probably damaging 1.00
IGL01349:Gm5114 APN 7 39409107 missense probably benign
IGL01633:Gm5114 APN 7 39408066 missense probably benign
IGL01634:Gm5114 APN 7 39408647 missense probably benign
IGL02072:Gm5114 APN 7 39411402 missense probably benign 0.00
FR4304:Gm5114 UTSW 7 39411105 missense probably benign
FR4304:Gm5114 UTSW 7 39411106 missense probably benign 0.00
R0034:Gm5114 UTSW 7 39408858 missense possibly damaging 0.83
R0127:Gm5114 UTSW 7 39408456 missense probably benign 0.00
R0328:Gm5114 UTSW 7 39408461 missense probably damaging 1.00
R0387:Gm5114 UTSW 7 39408809 missense probably benign 0.15
R0693:Gm5114 UTSW 7 39408764 missense probably benign 0.00
R1006:Gm5114 UTSW 7 39409086 missense probably damaging 1.00
R2039:Gm5114 UTSW 7 39409188 missense probably damaging 1.00
R3433:Gm5114 UTSW 7 39409197 missense probably benign 0.02
R3834:Gm5114 UTSW 7 39408737 missense possibly damaging 0.69
R4320:Gm5114 UTSW 7 39407627 missense probably damaging 1.00
R5214:Gm5114 UTSW 7 39408368 missense probably benign 0.19
R5443:Gm5114 UTSW 7 39408865 missense probably benign 0.00
R5471:Gm5114 UTSW 7 39409110 nonsense probably null
R5707:Gm5114 UTSW 7 39411276 missense probably benign 0.01
R6129:Gm5114 UTSW 7 39408600 missense possibly damaging 0.71
R6326:Gm5114 UTSW 7 39408155 missense probably benign
R6443:Gm5114 UTSW 7 39407717 missense possibly damaging 0.91
R6530:Gm5114 UTSW 7 39408090 missense probably damaging 1.00
R6743:Gm5114 UTSW 7 39408573 missense probably benign 0.42
R6770:Gm5114 UTSW 7 39408543 missense possibly damaging 0.94
R6885:Gm5114 UTSW 7 39408156 missense probably benign 0.01
R6980:Gm5114 UTSW 7 39409200 missense probably benign 0.01
R7100:Gm5114 UTSW 7 39408284 missense possibly damaging 0.52
R7215:Gm5114 UTSW 7 39411371 missense probably benign 0.02
R7254:Gm5114 UTSW 7 39408966 missense probably benign 0.35
R7343:Gm5114 UTSW 7 39408756 missense probably damaging 1.00
R7366:Gm5114 UTSW 7 39409344 missense possibly damaging 0.69
R7474:Gm5114 UTSW 7 39407980 missense probably benign 0.01
R7499:Gm5114 UTSW 7 39409065 missense possibly damaging 0.55
R8022:Gm5114 UTSW 7 39409376 missense probably benign
R8121:Gm5114 UTSW 7 39408128 missense probably benign 0.15
R8201:Gm5114 UTSW 7 39410949 missense probably damaging 0.98
R8212:Gm5114 UTSW 7 39411252 missense probably benign 0.18
R8321:Gm5114 UTSW 7 39410849 missense possibly damaging 0.85
Z1088:Gm5114 UTSW 7 39408447 missense probably damaging 1.00
Z1177:Gm5114 UTSW 7 39409326 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TCAGTGTCAGTGCAGTGCAG -3'
(R):5'- GCCAAATGCTGTGGTCTCTG -3'

Sequencing Primer
(F):5'- CAAGTCAGGGTGTTCCAAAGTC -3'
(R):5'- CCAAATGCTGTGGTCTCTGAAATG -3'
Posted On2018-02-28