Incidental Mutation 'IGL03107:Gpatch1'
ID419035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpatch1
Ensembl Gene ENSMUSG00000063808
Gene NameG patch domain containing 1
SynonymsGpatc1, 1300003A17Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03107
Quality Score
Status
Chromosome7
Chromosomal Location35276536-35318440 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 35303317 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Threonine at position 256 (N256T)
Ref Sequence ENSEMBL: ENSMUSP00000117475 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079693] [ENSMUST00000131143] [ENSMUST00000131213]
Predicted Effect probably benign
Transcript: ENSMUST00000079693
AA Change: N256T

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000078632
Gene: ENSMUSG00000063808
AA Change: N256T

DomainStartEndE-ValueType
Pfam:DUF1604 31 116 2.1e-39 PFAM
G_patch 150 191 4.72e-1 SMART
low complexity region 200 209 N/A INTRINSIC
low complexity region 456 478 N/A INTRINSIC
low complexity region 543 555 N/A INTRINSIC
low complexity region 651 665 N/A INTRINSIC
low complexity region 759 780 N/A INTRINSIC
low complexity region 803 816 N/A INTRINSIC
low complexity region 847 897 N/A INTRINSIC
low complexity region 899 909 N/A INTRINSIC
low complexity region 918 929 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131143
SMART Domains Protein: ENSMUSP00000121711
Gene: ENSMUSG00000063808

DomainStartEndE-ValueType
Pfam:DUF1604 29 98 2.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131213
AA Change: N256T

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117475
Gene: ENSMUSG00000063808
AA Change: N256T

DomainStartEndE-ValueType
Pfam:DUF1604 31 116 7.9e-40 PFAM
G_patch 150 191 4.72e-1 SMART
low complexity region 200 209 N/A INTRINSIC
low complexity region 456 478 N/A INTRINSIC
low complexity region 543 555 N/A INTRINSIC
low complexity region 651 665 N/A INTRINSIC
low complexity region 759 780 N/A INTRINSIC
low complexity region 803 816 N/A INTRINSIC
low complexity region 849 881 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153778
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik T A 11: 29,824,360 I366F probably damaging Het
A930003A15Rik T C 16: 19,883,768 noncoding transcript Het
Angpt4 A G 2: 151,943,422 M453V probably benign Het
Atr T A 9: 95,897,730 D1380E probably benign Het
Carmil1 A T 13: 24,094,455 M177K probably damaging Het
Cenpk T A 13: 104,242,772 I203N probably damaging Het
Cerk A T 15: 86,142,813 N165K probably benign Het
Col27a1 G A 4: 63,324,632 probably benign Het
Crb2 A T 2: 37,791,416 D757V probably benign Het
Csnk1a1 A G 18: 61,568,305 D91G probably damaging Het
Dnajc6 G T 4: 101,616,860 W486L probably damaging Het
Elmod1 C T 9: 53,934,223 probably benign Het
Ercc3 G T 18: 32,248,307 R392L possibly damaging Het
Fam135b C T 15: 71,463,561 V595I probably benign Het
Fermt1 A T 2: 132,933,139 S256T probably damaging Het
Fstl5 G T 3: 76,536,311 C321F probably damaging Het
Gpd2 T A 2: 57,355,569 S425R probably damaging Het
Igkv4-57-1 T G 6: 69,544,590 M43L probably benign Het
Itgae A G 11: 73,113,601 Q238R probably damaging Het
Lats1 T A 10: 7,712,746 D1042E probably benign Het
Lcn8 G A 2: 25,655,365 G156D probably damaging Het
Loxl4 A C 19: 42,605,279 V224G probably benign Het
Lrp2 T A 2: 69,454,833 D3827V probably damaging Het
Neb C A 2: 52,183,825 R231S probably benign Het
Olfr123 G A 17: 37,795,788 V115I probably benign Het
Olfr1458 A T 19: 13,103,037 M89K probably benign Het
Olfr213 T G 6: 116,540,939 M162R possibly damaging Het
Olfr801 A G 10: 129,669,940 M193T probably benign Het
Olfr969 T G 9: 39,796,179 M268R probably benign Het
Pappa T G 4: 65,204,703 S758R probably damaging Het
Pced1a G A 2: 130,422,835 T61I possibly damaging Het
Pik3cg T C 12: 32,200,595 D731G probably damaging Het
Plxnb1 G A 9: 109,104,986 D761N probably benign Het
Pmp22 T C 11: 63,158,309 V126A probably benign Het
Ppp6r2 G T 15: 89,268,545 R296S probably damaging Het
Prkcq A C 2: 11,260,786 H438P probably damaging Het
Ryr1 T A 7: 29,075,199 Y2339F probably damaging Het
Scaper T C 9: 55,858,402 probably benign Het
Scp2 T A 4: 108,098,115 I144F probably benign Het
Secisbp2 T C 13: 51,652,757 probably null Het
Sema5a T A 15: 32,669,408 Y693N probably damaging Het
Sin3b T A 8: 72,753,585 I905K probably damaging Het
Slc13a3 T A 2: 165,437,307 M195L probably benign Het
Strada A G 11: 106,164,037 probably benign Het
Stx18 G A 5: 38,136,311 V294M probably damaging Het
Tbpl2 A T 2: 24,093,833 N197K probably benign Het
Tdrd9 A T 12: 112,042,840 H1060L probably damaging Het
Tm4sf5 G A 11: 70,505,397 V23M possibly damaging Het
Tmem54 C A 4: 129,110,912 L187I probably damaging Het
Tmprss5 A G 9: 49,113,228 H281R possibly damaging Het
Trim30c A G 7: 104,382,613 Y332H possibly damaging Het
Uba6 T A 5: 86,127,774 probably benign Het
Unc80 C A 1: 66,631,454 P1912Q probably damaging Het
Other mutations in Gpatch1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Gpatch1 APN 7 35276813 critical splice acceptor site probably null
IGL01143:Gpatch1 APN 7 35301572 splice site probably benign
IGL01523:Gpatch1 APN 7 35308338 missense probably null 1.00
IGL01862:Gpatch1 APN 7 35295278 missense probably benign
IGL02349:Gpatch1 APN 7 35307255 missense probably damaging 1.00
IGL02792:Gpatch1 APN 7 35301593 missense probably damaging 0.96
IGL02926:Gpatch1 APN 7 35308269 missense probably damaging 1.00
IGL03099:Gpatch1 APN 7 35297523 missense possibly damaging 0.87
IGL03324:Gpatch1 APN 7 35299280 missense probably damaging 0.96
IGL03324:Gpatch1 APN 7 35293695 missense possibly damaging 0.81
R0066:Gpatch1 UTSW 7 35287227 missense probably damaging 1.00
R0066:Gpatch1 UTSW 7 35287227 missense probably damaging 1.00
R0137:Gpatch1 UTSW 7 35287242 missense probably damaging 1.00
R0347:Gpatch1 UTSW 7 35297631 missense probably benign 0.16
R0382:Gpatch1 UTSW 7 35301655 missense probably damaging 1.00
R0390:Gpatch1 UTSW 7 35281381 intron probably benign
R0791:Gpatch1 UTSW 7 35281376 intron probably benign
R1162:Gpatch1 UTSW 7 35303480 splice site probably benign
R1374:Gpatch1 UTSW 7 35291762 missense probably damaging 1.00
R1480:Gpatch1 UTSW 7 35303338 missense probably damaging 1.00
R1556:Gpatch1 UTSW 7 35295351 missense probably benign 0.00
R1682:Gpatch1 UTSW 7 35303387 missense possibly damaging 0.80
R1887:Gpatch1 UTSW 7 35303388 missense probably damaging 0.98
R1935:Gpatch1 UTSW 7 35295522 missense probably damaging 1.00
R1936:Gpatch1 UTSW 7 35295522 missense probably damaging 1.00
R2148:Gpatch1 UTSW 7 35299276 missense probably benign 0.16
R2205:Gpatch1 UTSW 7 35291772 missense probably damaging 1.00
R2215:Gpatch1 UTSW 7 35293827 missense possibly damaging 0.48
R2274:Gpatch1 UTSW 7 35288678 missense probably benign 0.00
R2275:Gpatch1 UTSW 7 35288678 missense probably benign 0.00
R4126:Gpatch1 UTSW 7 35293654 critical splice donor site probably null
R4705:Gpatch1 UTSW 7 35299305 splice site probably null
R5227:Gpatch1 UTSW 7 35309351 missense probably benign 0.09
R5567:Gpatch1 UTSW 7 35307215 missense probably damaging 0.99
R5810:Gpatch1 UTSW 7 35295371 missense probably benign 0.01
R5946:Gpatch1 UTSW 7 35291832 missense probably damaging 0.99
R6263:Gpatch1 UTSW 7 35303423 missense probably damaging 1.00
R6386:Gpatch1 UTSW 7 35291840 missense probably damaging 1.00
R6569:Gpatch1 UTSW 7 35291738 missense probably damaging 1.00
R6847:Gpatch1 UTSW 7 35293558 intron probably null
R7186:Gpatch1 UTSW 7 35295313 missense possibly damaging 0.86
R7259:Gpatch1 UTSW 7 35287121 critical splice donor site probably null
R7276:Gpatch1 UTSW 7 35297496 missense probably benign 0.00
R7516:Gpatch1 UTSW 7 35308200 missense probably benign 0.09
R7521:Gpatch1 UTSW 7 35293788 missense probably damaging 1.00
R7561:Gpatch1 UTSW 7 35309375 missense probably damaging 1.00
R7570:Gpatch1 UTSW 7 35293812 missense probably damaging 1.00
R7588:Gpatch1 UTSW 7 35291748 missense probably damaging 1.00
R7843:Gpatch1 UTSW 7 35281454 missense unknown
R7926:Gpatch1 UTSW 7 35281454 missense unknown
X0020:Gpatch1 UTSW 7 35295381 missense probably benign 0.09
Z1176:Gpatch1 UTSW 7 35310485
Posted On2016-08-02