Incidental Mutation 'R4206:Gin1'
ID 318895
Institutional Source Beutler Lab
Gene Symbol Gin1
Ensembl Gene ENSMUSG00000026333
Gene Name gypsy retrotransposon integrase 1
Synonyms 4930429M06, 4930429M06Rik, Zh2c2
MMRRC Submission 041035-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4206 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 97697897-97721434 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97720145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 380 (D380G)
Ref Sequence ENSEMBL: ENSMUSP00000027571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027571] [ENSMUST00000112844] [ENSMUST00000138142]
AlphaFold Q8K259
Predicted Effect possibly damaging
Transcript: ENSMUST00000027571
AA Change: D380G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027571
Gene: ENSMUSG00000026333
AA Change: D380G

DomainStartEndE-ValueType
low complexity region 63 73 N/A INTRINSIC
SCOP:d1exqa_ 112 208 2e-5 SMART
low complexity region 254 264 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112844
AA Change: D469G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000108464
Gene: ENSMUSG00000026333
AA Change: D469G

DomainStartEndE-ValueType
low complexity region 63 73 N/A INTRINSIC
PDB:4IKF|B 84 289 3e-8 PDB
SCOP:d1exqa_ 145 297 4e-16 SMART
low complexity region 343 353 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138142
Predicted Effect probably benign
Transcript: ENSMUST00000159041
SMART Domains Protein: ENSMUSP00000124284
Gene: ENSMUSG00000026335

DomainStartEndE-ValueType
low complexity region 37 44 N/A INTRINSIC
Pfam:NHL 50 78 4.2e-9 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,315,435 (GRCm39) K81R probably benign Het
Acacb T C 5: 114,351,712 (GRCm39) F1150L probably benign Het
Acat3 A G 17: 13,146,273 (GRCm39) Y237H possibly damaging Het
Arfgap3 T C 15: 83,206,869 (GRCm39) T240A probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Cabin1 T C 10: 75,590,675 (GRCm39) S23G possibly damaging Het
Cemip2 G T 19: 21,819,479 (GRCm39) R1090L probably damaging Het
Clasp1 A G 1: 118,506,636 (GRCm39) N949S probably damaging Het
Csrp1 T G 1: 135,673,065 (GRCm39) C61G probably damaging Het
Dgka A T 10: 128,557,064 (GRCm39) L637Q probably damaging Het
Dst G A 1: 34,251,328 (GRCm39) R1801H probably damaging Het
Edil3 T C 13: 89,328,397 (GRCm39) S284P probably damaging Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Ell2 A G 13: 75,910,067 (GRCm39) D139G probably damaging Het
Fam187a A G 11: 102,777,038 (GRCm39) R281G probably damaging Het
Gpr149 T G 3: 62,511,924 (GRCm39) D25A possibly damaging Het
Gyg1 A G 3: 20,206,901 (GRCm39) S90P probably benign Het
Hpx C T 7: 105,244,354 (GRCm39) M190I probably null Het
Irf2bpl C T 12: 86,929,810 (GRCm39) V288I probably benign Het
Lyst A G 13: 13,810,574 (GRCm39) H748R probably benign Het
Mmrn1 G A 6: 60,935,164 (GRCm39) G220D probably damaging Het
Mpdz A T 4: 81,299,999 (GRCm39) M333K probably benign Het
Muc5ac C T 7: 141,370,847 (GRCm39) S2556F possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Ntsr1 A G 2: 180,142,545 (GRCm39) D112G probably damaging Het
Or56b1 T A 7: 104,285,356 (GRCm39) N158K possibly damaging Het
Or7a42 T C 10: 78,791,117 (GRCm39) F26S probably benign Het
Or9s14 A C 1: 92,536,317 (GRCm39) T253P possibly damaging Het
Parg A G 14: 31,976,493 (GRCm39) K178R probably benign Het
Pde8b C A 13: 95,359,053 (GRCm39) C90F probably benign Het
Pld1 G A 3: 28,174,932 (GRCm39) V857I probably benign Het
Rad54l2 A C 9: 106,594,994 (GRCm39) V321G probably damaging Het
Rcn2 A G 9: 55,952,491 (GRCm39) Y112C possibly damaging Het
Rnf123 A T 9: 107,941,162 (GRCm39) D639E probably benign Het
Rufy2 C T 10: 62,840,551 (GRCm39) Q441* probably null Het
Scgb2b12 T C 7: 32,026,063 (GRCm39) Y43C probably damaging Het
Scrn3 T A 2: 73,149,845 (GRCm39) probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc22a8 T C 19: 8,585,597 (GRCm39) S321P probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tex2 A G 11: 106,458,398 (GRCm39) probably benign Het
Trip13 A G 13: 74,081,009 (GRCm39) I119T probably benign Het
Tsku C T 7: 98,002,205 (GRCm39) R42H probably damaging Het
Ttn A G 2: 76,602,911 (GRCm39) I16691T possibly damaging Het
Tyr A G 7: 87,078,276 (GRCm39) L528P possibly damaging Het
Ubxn2b T C 4: 6,204,565 (GRCm39) V142A probably damaging Het
Uggt2 C T 14: 119,286,674 (GRCm39) D221N probably damaging Het
Wnt4 A G 4: 137,023,654 (GRCm39) K207R possibly damaging Het
Zfp608 T C 18: 55,121,267 (GRCm39) R107G probably damaging Het
Other mutations in Gin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01479:Gin1 APN 1 97,720,097 (GRCm39) missense possibly damaging 0.95
IGL01508:Gin1 APN 1 97,705,162 (GRCm39) missense probably benign
IGL01874:Gin1 APN 1 97,710,797 (GRCm39) missense probably damaging 1.00
R0136:Gin1 UTSW 1 97,710,741 (GRCm39) missense possibly damaging 0.86
R0299:Gin1 UTSW 1 97,710,741 (GRCm39) missense possibly damaging 0.86
R1302:Gin1 UTSW 1 97,703,314 (GRCm39) nonsense probably null
R1607:Gin1 UTSW 1 97,713,875 (GRCm39) missense probably damaging 1.00
R1675:Gin1 UTSW 1 97,713,780 (GRCm39) nonsense probably null
R1739:Gin1 UTSW 1 97,713,829 (GRCm39) missense probably damaging 0.99
R1769:Gin1 UTSW 1 97,720,162 (GRCm39) missense probably benign 0.02
R1817:Gin1 UTSW 1 97,712,951 (GRCm39) splice site probably null
R1818:Gin1 UTSW 1 97,712,951 (GRCm39) splice site probably null
R1819:Gin1 UTSW 1 97,712,951 (GRCm39) splice site probably null
R1907:Gin1 UTSW 1 97,703,172 (GRCm39) unclassified probably benign
R2325:Gin1 UTSW 1 97,720,286 (GRCm39) missense probably damaging 1.00
R4571:Gin1 UTSW 1 97,712,801 (GRCm39) missense probably damaging 1.00
R4576:Gin1 UTSW 1 97,720,064 (GRCm39) missense probably damaging 1.00
R4670:Gin1 UTSW 1 97,712,565 (GRCm39) missense probably damaging 1.00
R4671:Gin1 UTSW 1 97,712,565 (GRCm39) missense probably damaging 1.00
R5659:Gin1 UTSW 1 97,703,257 (GRCm39) missense possibly damaging 0.95
R6360:Gin1 UTSW 1 97,720,264 (GRCm39) missense possibly damaging 0.90
R7035:Gin1 UTSW 1 97,720,100 (GRCm39) missense possibly damaging 0.92
R7229:Gin1 UTSW 1 97,712,876 (GRCm39) missense probably benign 0.02
R8269:Gin1 UTSW 1 97,710,929 (GRCm39) missense probably damaging 0.98
R8877:Gin1 UTSW 1 97,710,941 (GRCm39) missense possibly damaging 0.47
R9149:Gin1 UTSW 1 97,710,819 (GRCm39) missense probably damaging 1.00
R9480:Gin1 UTSW 1 97,705,198 (GRCm39) missense probably damaging 1.00
R9643:Gin1 UTSW 1 97,712,498 (GRCm39) missense probably benign 0.08
R9697:Gin1 UTSW 1 97,712,897 (GRCm39) missense probably benign 0.00
R9787:Gin1 UTSW 1 97,703,211 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTCCTCACTTAATGTCTAGCTAT -3'
(R):5'- CATTCTGTGCAAGCATTTTACATTAA -3'

Sequencing Primer
(F):5'- AAATTGGTTTCCCGAGCCAG -3'
(R):5'- GTGCAAGCATTTTACATTAATTTTGG -3'
Posted On 2015-06-10