Incidental Mutation 'IGL01474:Gm9774'
ID88392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm9774
Ensembl Gene ENSMUSG00000042165
Gene Namepredicted pseudogene 9774
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.592) question?
Stock #IGL01474
Quality Score
Status
Chromosome3
Chromosomal Location92428032-92429423 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 92428343 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 351 (Q351K)
Ref Sequence ENSEMBL: ENSMUSP00000141274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047300] [ENSMUST00000067102] [ENSMUST00000192538]
Predicted Effect probably benign
Transcript: ENSMUST00000047300
AA Change: Q253K

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000045065
Gene: ENSMUSG00000042165
AA Change: Q253K

DomainStartEndE-ValueType
Pfam:Proteasom_Rpn13 29 111 5.8e-36 PFAM
low complexity region 132 150 N/A INTRINSIC
Pfam:RPN13_C 170 283 7.5e-38 PFAM
low complexity region 292 305 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000067102
SMART Domains Protein: ENSMUSP00000063287
Gene: ENSMUSG00000054215

DomainStartEndE-ValueType
Pfam:SPRR2 2 65 1.8e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000192538
AA Change: Q351K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141274
Gene: ENSMUSG00000042165
AA Change: Q351K

DomainStartEndE-ValueType
Pfam:Proteasom_Rpn13 29 112 7.4e-35 PFAM
low complexity region 135 161 N/A INTRINSIC
low complexity region 173 254 N/A INTRINSIC
PDB:2KR0|A 255 407 4e-78 PDB
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A T 13: 91,772,783 K336I possibly damaging Het
Acsbg2 A G 17: 56,861,621 I166T possibly damaging Het
Bpifc T A 10: 86,000,639 M1L probably damaging Het
Ccnb2 T A 9: 70,419,023 N44I probably benign Het
Cdc73 C T 1: 143,671,332 V276M probably benign Het
Cnot7 A G 8: 40,507,449 probably null Het
Col11a1 T A 3: 114,217,134 probably benign Het
Coro1c T C 5: 113,882,155 probably benign Het
Crocc A G 4: 141,035,392 probably benign Het
Dync2h1 A T 9: 7,102,493 Y396N probably benign Het
Gm2888 T A 14: 3,032,041 D116E probably damaging Het
Gm29326 A T 7: 29,562,589 noncoding transcript Het
Greb1 A G 12: 16,684,501 V1496A probably benign Het
Hdac7 A G 15: 97,797,939 probably null Het
Hectd4 A G 5: 121,336,649 T2778A possibly damaging Het
Hist2h2bb A G 3: 96,269,809 probably benign Het
Hivep2 A T 10: 14,143,662 H2059L probably damaging Het
Ift88 A T 14: 57,478,074 I525F probably benign Het
Itga5 G A 15: 103,354,270 Q324* probably null Het
Klhl14 T G 18: 21,557,854 H513P probably damaging Het
Lama5 A T 2: 180,196,570 D837E probably damaging Het
Mrvi1 A T 7: 110,871,433 S898T possibly damaging Het
Muc6 C A 7: 141,651,307 C215F probably damaging Het
Myh15 A G 16: 49,132,098 K844E probably damaging Het
Neb A G 2: 52,328,905 V31A unknown Het
Nipbl A G 15: 8,311,209 I2009T possibly damaging Het
Olfr700 A G 7: 106,805,940 I174T probably benign Het
Piwil2 T C 14: 70,398,218 R536G probably benign Het
Pld3 A G 7: 27,532,619 V412A probably damaging Het
Prkaa2 A C 4: 105,049,332 probably null Het
Rdh9 T C 10: 127,790,945 L289P probably damaging Het
Rusc2 C T 4: 43,416,434 S580L probably damaging Het
Sidt2 A G 9: 45,946,982 probably null Het
Slc18b1 A T 10: 23,803,850 K92N probably benign Het
Slc20a2 G A 8: 22,535,557 V92M possibly damaging Het
Slc4a11 A T 2: 130,685,544 F644I probably damaging Het
Spata31d1d A T 13: 59,730,215 probably benign Het
Spef2 T C 15: 9,663,158 M846V probably benign Het
Syncrip T C 9: 88,480,747 T3A probably benign Het
Other mutations in Gm9774
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Gm9774 APN 3 92428400 missense probably benign 0.06
R0634:Gm9774 UTSW 3 92428809 nonsense probably null
R1791:Gm9774 UTSW 3 92428231 missense probably damaging 0.99
R2215:Gm9774 UTSW 3 92428423 missense probably damaging 0.97
R4077:Gm9774 UTSW 3 92428888 unclassified probably benign
R5221:Gm9774 UTSW 3 92428508 missense probably benign 0.00
R5481:Gm9774 UTSW 3 92429351 missense possibly damaging 0.94
R5589:Gm9774 UTSW 3 92428805 unclassified probably benign
R5611:Gm9774 UTSW 3 92428451 missense probably damaging 1.00
R5621:Gm9774 UTSW 3 92428357 missense probably damaging 1.00
R6012:Gm9774 UTSW 3 92429484 unclassified probably null
R6538:Gm9774 UTSW 3 92429255 missense possibly damaging 0.76
R6773:Gm9774 UTSW 3 92429249 missense probably damaging 0.99
R6995:Gm9774 UTSW 3 92429008 unclassified probably benign
R8055:Gm9774 UTSW 3 92428832 missense unknown
Z1088:Gm9774 UTSW 3 92429090 missense probably damaging 0.99
Posted On2013-11-18