Incidental Mutation 'IGL02173:Gm4737'
ID282997
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4737
Ensembl Gene ENSMUSG00000048087
Gene Namepredicted gene 4737
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.928) question?
Stock #IGL02173
Quality Score
Status
Chromosome16
Chromosomal Location46152985-46155077 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46154078 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 312 (N312S)
Ref Sequence ENSEMBL: ENSMUSP00000127198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059524]
Predicted Effect probably benign
Transcript: ENSMUST00000059524
AA Change: N312S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127198
Gene: ENSMUSG00000048087
AA Change: N312S

DomainStartEndE-ValueType
AdoHcyase 6 431 N/A SMART
AdoHcyase_NAD 191 352 1.49e-118 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,225,892 H68L possibly damaging Het
4930533K18Rik A G 10: 70,872,230 noncoding transcript Het
4933409G03Rik A G 2: 68,613,057 T182A unknown Het
Abca2 T A 2: 25,441,897 D1340E probably benign Het
Abcc12 G A 8: 86,566,442 A39V probably damaging Het
Acap2 T C 16: 31,108,147 R510G possibly damaging Het
Ace G T 11: 105,988,991 R719L probably benign Het
Adarb1 A C 10: 77,321,825 F263V probably damaging Het
Ambra1 T C 2: 91,917,668 S1130P probably benign Het
Aqp7 A T 4: 41,034,379 L260* probably null Het
Cntn5 G T 9: 9,748,396 S493R probably damaging Het
Crhr2 A G 6: 55,103,180 F138S probably damaging Het
D2hgdh T A 1: 93,829,889 D175E probably benign Het
Dtx4 G T 19: 12,473,257 Y530* probably null Het
Elp4 T A 2: 105,702,743 H419L probably damaging Het
Etv6 A G 6: 134,248,727 D218G possibly damaging Het
Exoc5 A G 14: 49,034,801 probably benign Het
Fyb C T 15: 6,580,695 P250S probably benign Het
Gaa A G 11: 119,274,913 Y84C probably damaging Het
Galns A T 8: 122,598,626 S262R probably damaging Het
Kctd16 T C 18: 40,530,853 I345T probably benign Het
Lats2 A G 14: 57,697,260 V671A probably damaging Het
Maml3 C A 3: 51,690,787 L179F probably damaging Het
Myo1f T C 17: 33,607,344 L1089P probably damaging Het
Nadsyn1 A T 7: 143,804,006 probably benign Het
Olfr1502 A G 19: 13,862,014 T74A probably benign Het
Olfr39 T C 9: 20,286,395 V240A probably benign Het
Olfr394 A G 11: 73,888,123 M83T possibly damaging Het
Olfr639 G A 7: 104,011,830 P291S probably damaging Het
Otog T C 7: 46,276,741 probably benign Het
Pcbd1 A G 10: 61,092,204 probably benign Het
Pced1a A G 2: 130,422,328 V164A possibly damaging Het
Pgd A G 4: 149,156,753 I233T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sec24d A T 3: 123,353,681 H733L probably damaging Het
Slc1a2 T A 2: 102,743,861 N205K probably benign Het
Sstr2 G T 11: 113,625,016 V254L probably damaging Het
Tm9sf2 G T 14: 122,143,423 V308F probably benign Het
Tor3a T C 1: 156,674,206 K34E probably benign Het
Tsta3 A G 15: 75,926,185 S233P probably damaging Het
Ubr4 T A 4: 139,437,070 probably null Het
Vmn1r56 A G 7: 5,196,118 S167P probably damaging Het
Zswim3 T A 2: 164,820,839 I413N probably damaging Het
Other mutations in Gm4737
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03347:Gm4737 APN 16 46154489 missense probably benign 0.01
R0326:Gm4737 UTSW 16 46153883 missense probably benign 0.03
R0552:Gm4737 UTSW 16 46154592 missense probably benign
R0610:Gm4737 UTSW 16 46153901 missense probably damaging 1.00
R1465:Gm4737 UTSW 16 46153848 missense probably benign 0.01
R1465:Gm4737 UTSW 16 46153848 missense probably benign 0.01
R1473:Gm4737 UTSW 16 46154819 missense probably damaging 1.00
R2997:Gm4737 UTSW 16 46153925 missense possibly damaging 0.83
R4546:Gm4737 UTSW 16 46153967 missense possibly damaging 0.81
R4818:Gm4737 UTSW 16 46154192 missense probably damaging 1.00
R6544:Gm4737 UTSW 16 46154784 missense probably benign
R7358:Gm4737 UTSW 16 46153838 missense probably damaging 1.00
R7689:Gm4737 UTSW 16 46154607 missense probably benign 0.12
Posted On2015-04-16