Incidental Mutation 'IGL01539:Gm5724'
ID90113
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5724
Ensembl Gene ENSMUSG00000084927
Gene Namepredicted gene 5724
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL01539
Quality Score
Status
Chromosome6
Chromosomal Location141708118-141773810 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 141727607 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 402 (S402P)
Ref Sequence ENSEMBL: ENSMUSP00000117177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000148411]
Predicted Effect possibly damaging
Transcript: ENSMUST00000148411
AA Change: S402P

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117177
Gene: ENSMUSG00000084927
AA Change: S402P

DomainStartEndE-ValueType
Pfam:MFS_1 22 405 3.4e-26 PFAM
KAZAL 438 484 1.71e0 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca4b T A 3: 144,926,157 M196L probably benign Het
Cyp4a14 T C 4: 115,487,177 N497S possibly damaging Het
Eif3b T C 5: 140,430,253 probably benign Het
Grin2c T C 11: 115,250,106 Q1062R probably benign Het
Ina A G 19: 47,015,464 E237G probably damaging Het
Lmx1b T C 2: 33,639,498 D83G possibly damaging Het
Macf1 A G 4: 123,395,908 probably benign Het
Muc6 T A 7: 141,650,041 M406L probably benign Het
Myo15b T C 11: 115,863,473 I933T probably benign Het
Olfr1226 A G 2: 89,193,492 F181L possibly damaging Het
Olfr773 T C 10: 129,186,935 N162S probably benign Het
Pde1b A T 15: 103,525,345 probably benign Het
Rab29 G A 1: 131,870,707 R75Q probably damaging Het
Scn10a A T 9: 119,638,698 I792N probably damaging Het
Serpinb6a A T 13: 33,930,134 V70D probably damaging Het
Spg20 A G 3: 55,117,302 D106G possibly damaging Het
Sucla2 A G 14: 73,591,121 E359G probably damaging Het
Sycp2 T C 2: 178,374,695 Y658C probably damaging Het
Tenm2 T A 11: 36,106,827 T811S possibly damaging Het
Trim66 C A 7: 109,455,066 M1312I probably benign Het
Tspan18 A G 2: 93,210,853 S135P probably damaging Het
Ube2j1 T C 4: 33,043,993 probably benign Het
Ubr1 A C 2: 120,926,013 V711G possibly damaging Het
Veph1 T C 3: 66,158,075 T524A probably benign Het
Vmn1r222 A T 13: 23,232,889 F51L probably benign Het
Vwf G T 6: 125,590,262 V338L possibly damaging Het
Zfp770 G T 2: 114,197,093 A165E probably damaging Het
Other mutations in Gm5724
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Gm5724 APN 6 141754429 missense probably benign 0.14
IGL01347:Gm5724 APN 6 141754466 nonsense probably null
IGL01613:Gm5724 APN 6 141713214 missense possibly damaging 0.67
IGL02060:Gm5724 APN 6 141754408 missense probably benign 0.00
IGL02063:Gm5724 APN 6 141738889 missense probably benign 0.01
IGL02126:Gm5724 APN 6 141739013 missense probably benign 0.29
IGL02214:Gm5724 APN 6 141723185 missense possibly damaging 0.50
IGL02630:Gm5724 APN 6 141723110 missense probably damaging 1.00
R0966:Gm5724 UTSW 6 141727573 missense probably benign 0.00
R1082:Gm5724 UTSW 6 141712133 missense probably damaging 1.00
R1433:Gm5724 UTSW 6 141765703 missense probably benign 0.00
R1571:Gm5724 UTSW 6 141754409 nonsense probably null
R1765:Gm5724 UTSW 6 141754358 splice site probably benign
R2055:Gm5724 UTSW 6 141725455 missense probably benign 0.33
R2174:Gm5724 UTSW 6 141727593 nonsense probably null
R2495:Gm5724 UTSW 6 141765777 missense probably benign 0.02
R2857:Gm5724 UTSW 6 141744538 missense probably benign 0.35
R3551:Gm5724 UTSW 6 141708596 missense probably benign 0.20
R3824:Gm5724 UTSW 6 141754374 missense possibly damaging 0.50
R3912:Gm5724 UTSW 6 141727636 missense probably damaging 0.97
R3942:Gm5724 UTSW 6 141727714 missense probably damaging 0.98
R4161:Gm5724 UTSW 6 141708596 missense probably benign 0.20
R4168:Gm5724 UTSW 6 141738947 missense probably benign 0.03
R4395:Gm5724 UTSW 6 141712118 missense probably benign 0.02
R4720:Gm5724 UTSW 6 141723222 missense probably damaging 1.00
R4732:Gm5724 UTSW 6 141723179 missense probably benign 0.01
R4733:Gm5724 UTSW 6 141723179 missense probably benign 0.01
R4794:Gm5724 UTSW 6 141767562 missense probably benign 0.11
R5062:Gm5724 UTSW 6 141767454 missense possibly damaging 0.46
R5389:Gm5724 UTSW 6 141740467 missense probably benign 0.12
R5419:Gm5724 UTSW 6 141736100 splice site probably null
R5423:Gm5724 UTSW 6 141744462 missense probably damaging 1.00
R5704:Gm5724 UTSW 6 141713254 missense probably benign 0.00
R5973:Gm5724 UTSW 6 141754456 missense probably benign 0.01
R6041:Gm5724 UTSW 6 141739038 missense probably benign 0.11
R6284:Gm5724 UTSW 6 141725393 missense probably damaging 1.00
R6395:Gm5724 UTSW 6 141723092 splice site probably null
R6993:Gm5724 UTSW 6 141765742 missense possibly damaging 0.94
R7149:Gm5724 UTSW 6 141744452 missense probably damaging 1.00
R7159:Gm5724 UTSW 6 141773778 start codon destroyed probably damaging 1.00
R7627:Gm5724 UTSW 6 141744545 missense probably damaging 1.00
R7784:Gm5724 UTSW 6 141713193 critical splice donor site probably null
R7873:Gm5724 UTSW 6 141727722 missense probably benign 0.44
R8670:Gm5724 UTSW 6 141765742 missense possibly damaging 0.94
R8720:Gm5724 UTSW 6 141723126 missense probably benign 0.01
X0020:Gm5724 UTSW 6 141754365 missense probably benign 0.00
Posted On2013-12-03