Incidental Mutation 'R7701:Gm5111'
ID 593996
Institutional Source Beutler Lab
Gene Symbol Gm5111
Ensembl Gene ENSMUSG00000052730
Gene Name predicted gene 5111
Synonyms
MMRRC Submission 045762-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7701 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 48566379-48567518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48567027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 81 (I81V)
Ref Sequence ENSEMBL: ENSMUSP00000064804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009420] [ENSMUST00000064744] [ENSMUST00000118229] [ENSMUST00000135151] [ENSMUST00000154010] [ENSMUST00000163452] [ENSMUST00000204121] [ENSMUST00000204521]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000009420
SMART Domains Protein: ENSMUSP00000009420
Gene: ENSMUSG00000052751

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
ZnF_C2H2 285 307 5.21e-4 SMART
ZnF_C2H2 353 375 4.72e-2 SMART
ZnF_C2H2 381 403 1.26e-2 SMART
ZnF_C2H2 409 431 1.79e-2 SMART
ZnF_C2H2 437 459 4.24e-4 SMART
ZnF_C2H2 465 487 6.52e-5 SMART
ZnF_C2H2 493 515 2.61e-4 SMART
ZnF_C2H2 521 543 1.45e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000064744
AA Change: I81V
SMART Domains Protein: ENSMUSP00000064804
Gene: ENSMUSG00000052730
AA Change: I81V

DomainStartEndE-ValueType
low complexity region 160 174 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118229
SMART Domains Protein: ENSMUSP00000113548
Gene: ENSMUSG00000052751

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
ZnF_C2H2 285 307 5.21e-4 SMART
ZnF_C2H2 353 375 4.72e-2 SMART
ZnF_C2H2 381 403 1.26e-2 SMART
ZnF_C2H2 409 431 1.79e-2 SMART
ZnF_C2H2 437 459 4.24e-4 SMART
ZnF_C2H2 465 487 6.52e-5 SMART
ZnF_C2H2 493 515 2.61e-4 SMART
ZnF_C2H2 521 543 1.45e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135151
SMART Domains Protein: ENSMUSP00000118890
Gene: ENSMUSG00000052751

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
Pfam:zf-C2H2_6 284 300 1.4e-1 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154010
SMART Domains Protein: ENSMUSP00000121975
Gene: ENSMUSG00000052751

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
ZnF_C2H2 285 307 5.21e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163452
SMART Domains Protein: ENSMUSP00000132365
Gene: ENSMUSG00000052751

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
ZnF_C2H2 285 307 5.21e-4 SMART
ZnF_C2H2 353 375 4.72e-2 SMART
ZnF_C2H2 381 403 1.26e-2 SMART
ZnF_C2H2 409 431 1.79e-2 SMART
ZnF_C2H2 437 459 4.24e-4 SMART
ZnF_C2H2 465 487 6.52e-5 SMART
ZnF_C2H2 493 515 2.61e-4 SMART
ZnF_C2H2 521 543 1.45e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204121
Predicted Effect probably benign
Transcript: ENSMUST00000204521
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930470P17Rik T C 2: 170,443,225 (GRCm39) probably benign Het
4932414N04Rik G A 2: 68,561,548 (GRCm39) V292M possibly damaging Het
Actn1 A T 12: 80,221,328 (GRCm39) V575E possibly damaging Het
Arhgef1 T C 7: 24,612,003 (GRCm39) S129P probably benign Het
Aup1 T C 6: 83,032,908 (GRCm39) V214A probably benign Het
Bbs10 A G 10: 111,135,874 (GRCm39) E329G probably damaging Het
Brinp2 A G 1: 158,094,030 (GRCm39) probably null Het
Ccdc3 A G 2: 5,142,868 (GRCm39) T42A possibly damaging Het
Cd276 T C 9: 58,442,810 (GRCm39) N215S probably benign Het
Col24a1 T A 3: 145,020,772 (GRCm39) M381K probably benign Het
Col24a1 A G 3: 145,072,656 (GRCm39) probably null Het
Col6a4 A C 9: 105,960,087 (GRCm39) F19V probably benign Het
Crybg1 G T 10: 43,865,139 (GRCm39) A1446E probably benign Het
Dach1 C T 14: 98,140,670 (GRCm39) R496K probably damaging Het
Dchs2 A G 3: 83,253,513 (GRCm39) T2308A possibly damaging Het
Duxf1 A G 10: 58,058,885 (GRCm39) V623A possibly damaging Het
Dync1h1 G A 12: 110,585,080 (GRCm39) D828N probably damaging Het
Eif2a A T 3: 58,459,991 (GRCm39) H462L possibly damaging Het
Flot2 A G 11: 77,928,942 (GRCm39) probably null Het
Gas2 T G 7: 51,643,101 (GRCm39) Y263* probably null Het
Iqcm A G 8: 76,281,539 (GRCm39) I7M probably benign Het
Kank1 G A 19: 25,389,129 (GRCm39) probably null Het
Lnx2 A T 5: 146,961,333 (GRCm39) V533E probably damaging Het
Mapk8ip3 G T 17: 25,120,378 (GRCm39) P904T possibly damaging Het
Mcm5 C A 8: 75,850,551 (GRCm39) H596N probably benign Het
Miip A T 4: 147,947,371 (GRCm39) V237E probably null Het
Mob3a G A 10: 80,525,768 (GRCm39) A181V probably damaging Het
Mrpl38 G A 11: 116,026,104 (GRCm39) R99W probably benign Het
Naa25 A G 5: 121,564,042 (GRCm39) T486A probably benign Het
Or2z9 T A 8: 72,854,030 (GRCm39) L142Q probably damaging Het
Or5b102 A G 19: 13,041,445 (GRCm39) I223M probably damaging Het
Or8g4 A G 9: 39,662,597 (GRCm39) Y305C probably benign Het
Pcdha8 A T 18: 37,126,864 (GRCm39) N449Y probably damaging Het
Pcdhb6 A T 18: 37,467,562 (GRCm39) D161V probably damaging Het
Pdlim3 A G 8: 46,361,576 (GRCm39) D134G probably benign Het
Phpt1 A G 2: 25,464,799 (GRCm39) V18A probably benign Het
Prg4 T C 1: 150,333,293 (GRCm39) K177E possibly damaging Het
Psmb1 A G 17: 15,697,509 (GRCm39) F202S probably benign Het
Rab14 A G 2: 35,073,427 (GRCm39) F150L Het
Rgs14 A G 13: 55,527,138 (GRCm39) D169G probably damaging Het
Rreb1 C T 13: 38,114,092 (GRCm39) L484F possibly damaging Het
Rsph14 A T 10: 74,793,608 (GRCm39) Y264* probably null Het
Scly T C 1: 91,236,030 (GRCm39) I152T Het
Ska1 A T 18: 74,335,714 (GRCm39) H85Q probably damaging Het
Slc35b3 T C 13: 39,128,611 (GRCm39) M159V probably benign Het
Smok2b A G 17: 13,453,767 (GRCm39) probably benign Het
Spock1 G A 13: 57,735,472 (GRCm39) Q103* probably null Het
Topbp1 T C 9: 103,210,184 (GRCm39) V914A probably damaging Het
Tspan3 A T 9: 56,054,803 (GRCm39) Y41* probably null Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttn T G 2: 76,560,028 (GRCm39) I29458L possibly damaging Het
Tubgcp3 A G 8: 12,705,974 (GRCm39) S183P probably benign Het
Zfat C A 15: 68,052,757 (GRCm39) E346* probably null Het
Zfp341 T A 2: 154,476,000 (GRCm39) probably null Het
Zfp54 A G 17: 21,654,357 (GRCm39) T284A probably benign Het
Other mutations in Gm5111
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Gm5111 APN 6 48,566,620 (GRCm39) utr 5 prime probably benign
R1219:Gm5111 UTSW 6 48,567,328 (GRCm39) intron probably benign
R6261:Gm5111 UTSW 6 48,566,526 (GRCm39) unclassified probably benign
R6354:Gm5111 UTSW 6 48,567,268 (GRCm39) intron probably benign
R8867:Gm5111 UTSW 6 48,566,629 (GRCm39) critical splice donor site probably null
R9198:Gm5111 UTSW 6 48,567,037 (GRCm39) missense unknown
Z1176:Gm5111 UTSW 6 48,567,243 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GAGTCTTGCTTTGCAACCCC -3'
(R):5'- TGAAGAAGCCTTGTGATGGG -3'

Sequencing Primer
(F):5'- AAATCTAAGATCTTCCTGCCTTGG -3'
(R):5'- AAGCCTTGTGATGGGAGACTTTAAG -3'
Posted On 2019-11-12