Incidental Mutation 'R3056:Gpatch11'
ID 265193
Institutional Source Beutler Lab
Gene Symbol Gpatch11
Ensembl Gene ENSMUSG00000050668
Gene Name G patch domain containing 11
Synonyms 2310002B06Rik, Ccdc75
MMRRC Submission 040565-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R3056 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 79142996-79155737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79151272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 228 (T228A)
Ref Sequence ENSEMBL: ENSMUSP00000126814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170759]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000170759
AA Change: T228A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126814
Gene: ENSMUSG00000050668
AA Change: T228A

DomainStartEndE-ValueType
G_patch 71 117 5.8e-14 SMART
DUF4187 195 263 1.51e-25 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,401,268 (GRCm39) I72T probably benign Het
Abca1 A T 4: 53,127,626 (GRCm39) M131K probably benign Het
Agbl1 C T 7: 76,416,232 (GRCm39) T751M possibly damaging Het
Asb14 A G 14: 26,636,146 (GRCm39) I510V possibly damaging Het
Bard1 A G 1: 71,127,390 (GRCm39) V73A possibly damaging Het
C6 T C 15: 4,769,355 (GRCm39) I187T probably damaging Het
Catsper3 T C 13: 55,956,709 (GRCm39) S376P unknown Het
Ccdc150 A G 1: 54,328,001 (GRCm39) N361S possibly damaging Het
Cntn5 A G 9: 10,419,076 (GRCm39) L7P probably benign Het
Cplane1 T C 15: 8,280,491 (GRCm39) S2805P unknown Het
Cxcr6 A T 9: 123,639,529 (GRCm39) I177F probably damaging Het
Dnah7b A G 1: 46,307,869 (GRCm39) D3061G possibly damaging Het
Epas1 T C 17: 87,138,409 (GRCm39) F835S probably damaging Het
Fat3 C T 9: 15,871,792 (GRCm39) R3533H probably benign Het
Fxr1 A G 3: 34,103,333 (GRCm39) E221G probably damaging Het
Greb1 G T 12: 16,738,592 (GRCm39) T1457K probably damaging Het
Ighm T A 12: 113,382,596 (GRCm39) probably benign Het
Ints12 G A 3: 132,815,126 (GRCm39) M444I possibly damaging Het
Lmx1b G A 2: 33,457,297 (GRCm39) Q168* probably null Het
Ltbp3 C A 19: 5,801,434 (GRCm39) N659K probably benign Het
Micos13 A G 17: 56,915,889 (GRCm39) F55S probably damaging Het
Mrpl20 G T 4: 155,888,329 (GRCm39) V43F possibly damaging Het
Nlgn1 T C 3: 25,487,860 (GRCm39) N825S possibly damaging Het
Or5d36 T A 2: 87,901,583 (GRCm39) T48S probably benign Het
Or5p67 A T 7: 107,922,757 (GRCm39) V42E possibly damaging Het
Or8k3b C A 2: 86,520,896 (GRCm39) C141F possibly damaging Het
Pccb C T 9: 100,912,250 (GRCm39) R79Q probably damaging Het
Peg10 G A 6: 4,755,029 (GRCm39) R270H possibly damaging Het
Pttg1ip2 A T 5: 5,507,283 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc4a4 T C 5: 89,373,807 (GRCm39) V971A probably damaging Het
Timm29 T C 9: 21,504,887 (GRCm39) M185T probably damaging Het
Tmem92 C T 11: 94,669,873 (GRCm39) C86Y probably benign Het
Tnfrsf8 C T 4: 145,011,895 (GRCm39) probably null Het
Tnks1bp1 T A 2: 84,900,344 (GRCm39) C1433* probably null Het
Utp14b T A 1: 78,642,442 (GRCm39) D113E possibly damaging Het
Vmn2r110 T A 17: 20,803,360 (GRCm39) Y405F probably damaging Het
Wiz A G 17: 32,576,671 (GRCm39) S628P probably benign Het
Xrcc4 T C 13: 90,210,196 (GRCm39) T83A probably benign Het
Other mutations in Gpatch11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02007:Gpatch11 APN 17 79,149,593 (GRCm39) missense probably benign
IGL02125:Gpatch11 APN 17 79,147,538 (GRCm39) missense probably benign 0.21
IGL02183:Gpatch11 APN 17 79,149,660 (GRCm39) critical splice donor site probably null
IGL02223:Gpatch11 APN 17 79,152,608 (GRCm39) missense probably benign 0.23
IGL02224:Gpatch11 APN 17 79,148,522 (GRCm39) splice site probably benign
IGL03116:Gpatch11 APN 17 79,151,282 (GRCm39) nonsense probably null
FR4340:Gpatch11 UTSW 17 79,149,603 (GRCm39) small insertion probably benign
FR4342:Gpatch11 UTSW 17 79,149,607 (GRCm39) small insertion probably benign
FR4449:Gpatch11 UTSW 17 79,149,610 (GRCm39) small insertion probably benign
FR4449:Gpatch11 UTSW 17 79,149,605 (GRCm39) small insertion probably benign
FR4449:Gpatch11 UTSW 17 79,149,597 (GRCm39) small insertion probably benign
FR4548:Gpatch11 UTSW 17 79,149,604 (GRCm39) small insertion probably benign
FR4737:Gpatch11 UTSW 17 79,149,609 (GRCm39) small insertion probably benign
FR4737:Gpatch11 UTSW 17 79,149,600 (GRCm39) small insertion probably benign
FR4976:Gpatch11 UTSW 17 79,149,601 (GRCm39) small insertion probably benign
FR4976:Gpatch11 UTSW 17 79,149,600 (GRCm39) small insertion probably benign
FR4976:Gpatch11 UTSW 17 79,149,599 (GRCm39) small insertion probably benign
FR4976:Gpatch11 UTSW 17 79,149,609 (GRCm39) small insertion probably benign
FR4976:Gpatch11 UTSW 17 79,149,602 (GRCm39) nonsense probably null
R1670:Gpatch11 UTSW 17 79,146,529 (GRCm39) missense possibly damaging 0.85
R1986:Gpatch11 UTSW 17 79,151,266 (GRCm39) missense probably benign 0.04
R2071:Gpatch11 UTSW 17 79,148,514 (GRCm39) critical splice donor site probably null
R4348:Gpatch11 UTSW 17 79,148,446 (GRCm39) missense probably damaging 1.00
R4352:Gpatch11 UTSW 17 79,148,446 (GRCm39) missense probably damaging 1.00
R5426:Gpatch11 UTSW 17 79,148,663 (GRCm39) missense possibly damaging 0.47
R5546:Gpatch11 UTSW 17 79,149,548 (GRCm39) nonsense probably null
R6681:Gpatch11 UTSW 17 79,147,528 (GRCm39) missense probably damaging 1.00
R7221:Gpatch11 UTSW 17 79,149,546 (GRCm39) missense possibly damaging 0.69
R7409:Gpatch11 UTSW 17 79,146,595 (GRCm39) missense probably damaging 1.00
R7662:Gpatch11 UTSW 17 79,146,484 (GRCm39) missense probably benign 0.44
R8906:Gpatch11 UTSW 17 79,145,289 (GRCm39) missense probably benign 0.17
R9265:Gpatch11 UTSW 17 79,146,547 (GRCm39) missense probably benign 0.11
R9277:Gpatch11 UTSW 17 79,148,446 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- TGCGGACAAGTGGTTAGTC -3'
(R):5'- AGTCACTATTTCTTTGCAACGTCG -3'

Sequencing Primer
(F):5'- TTAGTCAGCTGAGACATGCC -3'
(R):5'- GGCCCCACACTGTTAACTGAATG -3'
Posted On 2015-02-05