Incidental Mutation 'IGL03212:Gm5624'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5624
Ensembl Gene ENSMUSG00000092165
Gene Namepredicted gene 5624
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #IGL03212
Quality Score
Chromosomal Location44556795-44627938 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 44560710 bp
Amino Acid Change Asparagine to Lysine at position 103 (N103K)
Ref Sequence ENSEMBL: ENSMUSP00000136815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178184] [ENSMUST00000227882] [ENSMUST00000228629]
Predicted Effect unknown
Transcript: ENSMUST00000165769
AA Change: N146K
SMART Domains Protein: ENSMUSP00000126636
Gene: ENSMUSG00000092165
AA Change: N146K

Pfam:Takusan 57 137 1.2e-27 PFAM
coiled coil region 152 185 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178184
AA Change: N103K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000136815
Gene: ENSMUSG00000092165
AA Change: N103K

Pfam:Takusan 13 93 2.2e-27 PFAM
coiled coil region 109 142 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226445
Predicted Effect probably benign
Transcript: ENSMUST00000227882
AA Change: N102K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000228629
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,202,926 S657P probably benign Het
Atp2c1 T A 9: 105,445,267 N221I probably damaging Het
Atp5h G T 11: 115,415,771 H155N probably damaging Het
Cd55b A T 1: 130,411,442 N316K probably benign Het
Celsr1 A T 15: 85,930,677 M1861K probably benign Het
Cfap69 T G 5: 5,657,849 probably null Het
Col7a1 C A 9: 108,974,452 P2169Q unknown Het
Cyp2j5 G T 4: 96,663,818 H65N probably damaging Het
Dnah5 T C 15: 28,290,163 V1233A probably benign Het
Fn1 A T 1: 71,641,325 L407* probably null Het
Fpr-rs3 T C 17: 20,623,859 D340G probably benign Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Glmp T C 3: 88,328,357 S317P probably benign Het
Gm15448 T A 7: 3,823,133 Q287L probably benign Het
Gm5581 A T 6: 131,181,450 noncoding transcript Het
Gprin3 A G 6: 59,355,028 F98S probably benign Het
Ighmbp2 A G 19: 3,279,942 V104A probably damaging Het
Igkv4-79 A C 6: 69,043,230 S34A probably benign Het
Igsf10 G A 3: 59,328,165 P1532S probably benign Het
Myt1l A G 12: 29,827,820 K490R unknown Het
Olfr1176 T A 2: 88,339,672 Y36N probably damaging Het
Plxna1 T A 6: 89,331,903 T1198S probably damaging Het
Pramel6 A G 2: 87,510,425 D367G probably damaging Het
Rbm28 G T 6: 29,131,275 R10S probably damaging Het
Rdh10 T G 1: 16,107,827 C108G probably benign Het
Rfx7 C A 9: 72,619,161 T1211K probably benign Het
Slc24a5 C A 2: 125,080,830 T141N probably damaging Het
Smarca5 T A 8: 80,711,781 N642I possibly damaging Het
Smchd1 C A 17: 71,443,891 R344L probably damaging Het
Tmx3 T A 18: 90,538,518 I355N probably damaging Het
Tram1l1 G A 3: 124,321,914 G241D possibly damaging Het
Ubr4 A G 4: 139,409,763 T982A probably benign Het
Vmn2r52 T G 7: 10,159,547 H555P possibly damaging Het
Zbtb43 A T 2: 33,454,274 M313K probably benign Het
Zfp942 A T 17: 21,929,464 Y61* probably null Het
Other mutations in Gm5624
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Gm5624 APN 14 44559839 critical splice donor site probably null
IGL02682:Gm5624 APN 14 44560012 missense possibly damaging 0.86
IGL03145:Gm5624 APN 14 44560765 missense possibly damaging 0.50
R1800:Gm5624 UTSW 14 44561845 missense probably damaging 1.00
R6136:Gm5624 UTSW 14 44559876 missense probably benign 0.17
R6727:Gm5624 UTSW 14 44561875 missense possibly damaging 0.52
R7512:Gm5624 UTSW 14 44561855 missense
R7662:Gm5624 UTSW 14 44561933 missense possibly damaging 0.94
R7950:Gm5624 UTSW 14 44560733 missense
R8411:Gm5624 UTSW 14 44561890 missense
R8413:Gm5624 UTSW 14 44561890 missense
Posted On2016-08-02