Incidental Mutation 'IGL03107:Gpatch1'
ID 419035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpatch1
Ensembl Gene ENSMUSG00000063808
Gene Name G patch domain containing 1
Synonyms Gpatc1, 1300003A17Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03107
Quality Score
Status
Chromosome 7
Chromosomal Location 34975969-35017865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 35002742 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9DBM1
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
A930003A15Rik T C 16: 19,702,518 (GRCm39) noncoding transcript Het
Angpt4 A G 2: 151,785,342 (GRCm39) M453V probably benign Het
Atr T A 9: 95,779,783 (GRCm39) D1380E probably benign Het
Carmil1 A T 13: 24,278,438 (GRCm39) M177K probably damaging Het
Cenpk T A 13: 104,379,280 (GRCm39) I203N probably damaging Het
Cerk A T 15: 86,027,014 (GRCm39) N165K probably benign Het
Col27a1 G A 4: 63,242,869 (GRCm39) probably benign Het
Crb2 A T 2: 37,681,428 (GRCm39) D757V probably benign Het
Csnk1a1 A G 18: 61,701,376 (GRCm39) D91G probably damaging Het
Dnajc6 G T 4: 101,474,057 (GRCm39) W486L probably damaging Het
Elmod1 C T 9: 53,841,507 (GRCm39) probably benign Het
Ercc3 G T 18: 32,381,360 (GRCm39) R392L possibly damaging Het
Fam135b C T 15: 71,335,410 (GRCm39) V595I probably benign Het
Fem1al T A 11: 29,774,360 (GRCm39) I366F probably damaging Het
Fermt1 A T 2: 132,775,059 (GRCm39) S256T probably damaging Het
Fstl5 G T 3: 76,443,618 (GRCm39) C321F probably damaging Het
Gpd2 T A 2: 57,245,581 (GRCm39) S425R probably damaging Het
Igkv4-57-1 T G 6: 69,521,574 (GRCm39) M43L probably benign Het
Itgae A G 11: 73,004,427 (GRCm39) Q238R probably damaging Het
Lats1 T A 10: 7,588,510 (GRCm39) D1042E probably benign Het
Lcn8 G A 2: 25,545,377 (GRCm39) G156D probably damaging Het
Loxl4 A C 19: 42,593,718 (GRCm39) V224G probably benign Het
Lrp2 T A 2: 69,285,177 (GRCm39) D3827V probably damaging Het
Neb C A 2: 52,073,837 (GRCm39) R231S probably benign Het
Or2g1 G A 17: 38,106,679 (GRCm39) V115I probably benign Het
Or5b105 A T 19: 13,080,401 (GRCm39) M89K probably benign Het
Or6c211 A G 10: 129,505,809 (GRCm39) M193T probably benign Het
Or6d13 T G 6: 116,517,900 (GRCm39) M162R possibly damaging Het
Or8g54 T G 9: 39,707,475 (GRCm39) M268R probably benign Het
Pappa T G 4: 65,122,940 (GRCm39) S758R probably damaging Het
Pced1a G A 2: 130,264,755 (GRCm39) T61I possibly damaging Het
Pik3cg T C 12: 32,250,594 (GRCm39) D731G probably damaging Het
Plxnb1 G A 9: 108,934,054 (GRCm39) D761N probably benign Het
Pmp22 T C 11: 63,049,135 (GRCm39) V126A probably benign Het
Ppp6r2 G T 15: 89,152,748 (GRCm39) R296S probably damaging Het
Prkcq A C 2: 11,265,597 (GRCm39) H438P probably damaging Het
Ryr1 T A 7: 28,774,624 (GRCm39) Y2339F probably damaging Het
Scaper T C 9: 55,765,686 (GRCm39) probably benign Het
Scp2 T A 4: 107,955,312 (GRCm39) I144F probably benign Het
Secisbp2 T C 13: 51,806,793 (GRCm39) probably null Het
Sema5a T A 15: 32,669,554 (GRCm39) Y693N probably damaging Het
Sin3b T A 8: 73,480,213 (GRCm39) I905K probably damaging Het
Slc13a3 T A 2: 165,279,227 (GRCm39) M195L probably benign Het
Strada A G 11: 106,054,863 (GRCm39) probably benign Het
Stx18 G A 5: 38,293,655 (GRCm39) V294M probably damaging Het
Tbpl2 A T 2: 23,983,845 (GRCm39) N197K probably benign Het
Tdrd9 A T 12: 112,009,274 (GRCm39) H1060L probably damaging Het
Tm4sf5 G A 11: 70,396,223 (GRCm39) V23M possibly damaging Het
Tmem54 C A 4: 129,004,705 (GRCm39) L187I probably damaging Het
Tmprss5 A G 9: 49,024,528 (GRCm39) H281R possibly damaging Het
Trim30c A G 7: 104,031,820 (GRCm39) Y332H possibly damaging Het
Uba6 T A 5: 86,275,633 (GRCm39) probably benign Het
Unc80 C A 1: 66,670,613 (GRCm39) P1912Q probably damaging Het
Other mutations in Gpatch1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Gpatch1 APN 7 34,976,238 (GRCm39) critical splice acceptor site probably null
IGL01143:Gpatch1 APN 7 35,000,997 (GRCm39) splice site probably benign
IGL01523:Gpatch1 APN 7 35,007,763 (GRCm39) missense probably null 1.00
IGL01862:Gpatch1 APN 7 34,994,703 (GRCm39) missense probably benign
IGL02349:Gpatch1 APN 7 35,006,680 (GRCm39) missense probably damaging 1.00
IGL02792:Gpatch1 APN 7 35,001,018 (GRCm39) missense probably damaging 0.96
IGL02926:Gpatch1 APN 7 35,007,694 (GRCm39) missense probably damaging 1.00
IGL03099:Gpatch1 APN 7 34,996,948 (GRCm39) missense possibly damaging 0.87
IGL03324:Gpatch1 APN 7 34,993,120 (GRCm39) missense possibly damaging 0.81
IGL03324:Gpatch1 APN 7 34,998,705 (GRCm39) missense probably damaging 0.96
R0066:Gpatch1 UTSW 7 34,986,652 (GRCm39) missense probably damaging 1.00
R0066:Gpatch1 UTSW 7 34,986,652 (GRCm39) missense probably damaging 1.00
R0137:Gpatch1 UTSW 7 34,986,667 (GRCm39) missense probably damaging 1.00
R0347:Gpatch1 UTSW 7 34,997,056 (GRCm39) missense probably benign 0.16
R0382:Gpatch1 UTSW 7 35,001,080 (GRCm39) missense probably damaging 1.00
R0390:Gpatch1 UTSW 7 34,980,806 (GRCm39) intron probably benign
R0791:Gpatch1 UTSW 7 34,980,801 (GRCm39) intron probably benign
R1162:Gpatch1 UTSW 7 35,002,905 (GRCm39) splice site probably benign
R1374:Gpatch1 UTSW 7 34,991,187 (GRCm39) missense probably damaging 1.00
R1480:Gpatch1 UTSW 7 35,002,763 (GRCm39) missense probably damaging 1.00
R1556:Gpatch1 UTSW 7 34,994,776 (GRCm39) missense probably benign 0.00
R1682:Gpatch1 UTSW 7 35,002,812 (GRCm39) missense possibly damaging 0.80
R1887:Gpatch1 UTSW 7 35,002,813 (GRCm39) missense probably damaging 0.98
R1935:Gpatch1 UTSW 7 34,994,947 (GRCm39) missense probably damaging 1.00
R1936:Gpatch1 UTSW 7 34,994,947 (GRCm39) missense probably damaging 1.00
R2148:Gpatch1 UTSW 7 34,998,701 (GRCm39) missense probably benign 0.16
R2205:Gpatch1 UTSW 7 34,991,197 (GRCm39) missense probably damaging 1.00
R2215:Gpatch1 UTSW 7 34,993,252 (GRCm39) missense possibly damaging 0.48
R2274:Gpatch1 UTSW 7 34,988,103 (GRCm39) missense probably benign 0.00
R2275:Gpatch1 UTSW 7 34,988,103 (GRCm39) missense probably benign 0.00
R4126:Gpatch1 UTSW 7 34,993,079 (GRCm39) critical splice donor site probably null
R4705:Gpatch1 UTSW 7 34,998,730 (GRCm39) splice site probably null
R5227:Gpatch1 UTSW 7 35,008,776 (GRCm39) missense probably benign 0.09
R5567:Gpatch1 UTSW 7 35,006,640 (GRCm39) missense probably damaging 0.99
R5810:Gpatch1 UTSW 7 34,994,796 (GRCm39) missense probably benign 0.01
R5946:Gpatch1 UTSW 7 34,991,257 (GRCm39) missense probably damaging 0.99
R6263:Gpatch1 UTSW 7 35,002,848 (GRCm39) missense probably damaging 1.00
R6386:Gpatch1 UTSW 7 34,991,265 (GRCm39) missense probably damaging 1.00
R6569:Gpatch1 UTSW 7 34,991,163 (GRCm39) missense probably damaging 1.00
R6847:Gpatch1 UTSW 7 34,992,983 (GRCm39) splice site probably null
R7186:Gpatch1 UTSW 7 34,994,738 (GRCm39) missense possibly damaging 0.86
R7259:Gpatch1 UTSW 7 34,986,546 (GRCm39) critical splice donor site probably null
R7276:Gpatch1 UTSW 7 34,996,921 (GRCm39) missense probably benign 0.00
R7516:Gpatch1 UTSW 7 35,007,625 (GRCm39) missense probably benign 0.09
R7521:Gpatch1 UTSW 7 34,993,213 (GRCm39) missense probably damaging 1.00
R7561:Gpatch1 UTSW 7 35,008,800 (GRCm39) missense probably damaging 1.00
R7570:Gpatch1 UTSW 7 34,993,237 (GRCm39) missense probably damaging 1.00
R7588:Gpatch1 UTSW 7 34,991,173 (GRCm39) missense probably damaging 1.00
R7843:Gpatch1 UTSW 7 34,980,879 (GRCm39) missense unknown
R8353:Gpatch1 UTSW 7 34,976,704 (GRCm39) intron probably benign
R8430:Gpatch1 UTSW 7 35,007,634 (GRCm39) missense probably damaging 1.00
R8669:Gpatch1 UTSW 7 34,991,204 (GRCm39) missense probably damaging 1.00
X0020:Gpatch1 UTSW 7 34,994,806 (GRCm39) missense probably benign 0.09
Z1176:Gpatch1 UTSW 7 35,009,910 (GRCm39) missense probably damaging 1.00
Z1186:Gpatch1 UTSW 7 35,017,770 (GRCm39) missense probably benign
Z1186:Gpatch1 UTSW 7 34,997,079 (GRCm39) missense possibly damaging 0.91
Z1186:Gpatch1 UTSW 7 34,980,797 (GRCm39) missense unknown
Z1191:Gpatch1 UTSW 7 35,017,770 (GRCm39) missense probably benign
Z1191:Gpatch1 UTSW 7 34,997,079 (GRCm39) missense possibly damaging 0.91
Z1191:Gpatch1 UTSW 7 34,980,797 (GRCm39) missense unknown
Posted On 2016-08-02