Incidental Mutation 'IGL01588:Gpatch2'
ID91512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpatch2
Ensembl Gene ENSMUSG00000039210
Gene NameG patch domain containing 2
Synonyms5830433G22Rik, Gpatc2, 5830436K05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL01588
Quality Score
Status
Chromosome1
Chromosomal Location187215508-187351704 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 187230794 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 261 (S261C)
Ref Sequence ENSEMBL: ENSMUSP00000137801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044812] [ENSMUST00000065573] [ENSMUST00000110943] [ENSMUST00000159748] [ENSMUST00000160471] [ENSMUST00000160481] [ENSMUST00000160570]
Predicted Effect probably damaging
Transcript: ENSMUST00000044812
AA Change: S261C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048979
Gene: ENSMUSG00000039210
AA Change: S261C

DomainStartEndE-ValueType
low complexity region 61 73 N/A INTRINSIC
low complexity region 107 118 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
low complexity region 205 214 N/A INTRINSIC
low complexity region 250 265 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000065573
AA Change: S261C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065009
Gene: ENSMUSG00000039210
AA Change: S261C

DomainStartEndE-ValueType
low complexity region 61 73 N/A INTRINSIC
low complexity region 107 118 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
low complexity region 205 214 N/A INTRINSIC
low complexity region 250 265 N/A INTRINSIC
G_patch 464 510 3.95e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097443
SMART Domains Protein: ENSMUSP00000095052
Gene: ENSMUSG00000039210

DomainStartEndE-ValueType
low complexity region 61 73 N/A INTRINSIC
low complexity region 107 118 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
low complexity region 205 214 N/A INTRINSIC
low complexity region 250 265 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110943
AA Change: S261C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106568
Gene: ENSMUSG00000039210
AA Change: S261C

DomainStartEndE-ValueType
low complexity region 61 73 N/A INTRINSIC
low complexity region 107 118 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
low complexity region 205 214 N/A INTRINSIC
low complexity region 250 265 N/A INTRINSIC
G_patch 427 473 3.95e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159748
AA Change: S261C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137858
Gene: ENSMUSG00000039210
AA Change: S261C

DomainStartEndE-ValueType
low complexity region 61 73 N/A INTRINSIC
low complexity region 107 118 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
low complexity region 205 214 N/A INTRINSIC
low complexity region 250 265 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000160471
AA Change: S238C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124407
Gene: ENSMUSG00000039210
AA Change: S238C

DomainStartEndE-ValueType
low complexity region 38 50 N/A INTRINSIC
low complexity region 84 95 N/A INTRINSIC
low complexity region 132 142 N/A INTRINSIC
low complexity region 182 191 N/A INTRINSIC
low complexity region 227 242 N/A INTRINSIC
G_patch 441 487 3.95e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160481
AA Change: S261C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137801
Gene: ENSMUSG00000039210
AA Change: S261C

DomainStartEndE-ValueType
low complexity region 61 73 N/A INTRINSIC
low complexity region 107 118 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
low complexity region 205 214 N/A INTRINSIC
low complexity region 250 265 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160570
SMART Domains Protein: ENSMUSP00000125750
Gene: ENSMUSG00000039210

DomainStartEndE-ValueType
G_patch 133 179 3.95e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161260
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aspm T A 1: 139,478,162 S1596T probably benign Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Csn2 T C 5: 87,694,649 H165R probably benign Het
Dido1 A G 2: 180,688,875 V260A probably benign Het
Ece1 C T 4: 137,957,206 probably benign Het
Garem1 T G 18: 21,129,797 R653S probably damaging Het
Ing4 A G 6: 125,043,986 N24D possibly damaging Het
Klhdc7a A T 4: 139,966,946 V230D probably damaging Het
Ly96 G A 1: 16,709,454 V116I probably benign Het
Myom1 C T 17: 71,117,437 T1427M possibly damaging Het
Nedd1 C A 10: 92,686,262 V638L probably benign Het
Olfr1161 T C 2: 88,025,073 V117A probably benign Het
Olfr653 C T 7: 104,579,943 S99F probably damaging Het
Olfr948 G A 9: 39,318,832 Q261* probably null Het
Pbx2 T C 17: 34,595,618 probably benign Het
Phlpp1 A T 1: 106,380,389 H1132L probably damaging Het
Plpp5 T A 8: 25,724,168 H237Q probably damaging Het
Stard13 C T 5: 151,045,237 R856H probably damaging Het
Sult1e1 T C 5: 87,576,243 K285R probably benign Het
Ubxn8 C T 8: 33,621,559 V269M probably damaging Het
Usp29 A T 7: 6,962,611 K484N probably benign Het
Whrn C T 4: 63,472,778 V80M probably damaging Het
Znhit6 A G 3: 145,596,207 probably benign Het
Other mutations in Gpatch2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02324:Gpatch2 APN 1 187225739 missense probably damaging 1.00
IGL02493:Gpatch2 APN 1 187233128 splice site probably benign
IGL02583:Gpatch2 APN 1 187233317 splice site probably null
IGL02583:Gpatch2 APN 1 187233318 splice site probably null
IGL02632:Gpatch2 APN 1 187225981 missense probably damaging 1.00
R0100:Gpatch2 UTSW 1 187225817 missense probably damaging 1.00
R1801:Gpatch2 UTSW 1 187225831 missense probably benign 0.03
R1966:Gpatch2 UTSW 1 187322301 missense probably damaging 1.00
R3870:Gpatch2 UTSW 1 187322294 missense probably damaging 1.00
R4028:Gpatch2 UTSW 1 187226140 missense possibly damaging 0.53
R4471:Gpatch2 UTSW 1 187233140 missense probably damaging 1.00
R5346:Gpatch2 UTSW 1 187225868 missense probably benign 0.00
R6338:Gpatch2 UTSW 1 187225514 missense probably damaging 0.99
R6936:Gpatch2 UTSW 1 187233236 missense probably benign 0.04
R7185:Gpatch2 UTSW 1 187226197 missense probably damaging 1.00
R7708:Gpatch2 UTSW 1 187232766 missense probably benign
R7885:Gpatch2 UTSW 1 187225501 critical splice acceptor site probably null
R7968:Gpatch2 UTSW 1 187225501 critical splice acceptor site probably null
Z1177:Gpatch2 UTSW 1 187225691 missense probably damaging 1.00
Posted On2013-12-09