Incidental Mutation 'R6354:Gm5111'
ID 512960
Institutional Source Beutler Lab
Gene Symbol Gm5111
Ensembl Gene ENSMUSG00000052730
Gene Name predicted gene 5111
Synonyms
MMRRC Submission 044506-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R6354 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 48566379-48567518 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 48567268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009420] [ENSMUST00000064744] [ENSMUST00000118229] [ENSMUST00000135151] [ENSMUST00000154010] [ENSMUST00000204521] [ENSMUST00000163452] [ENSMUST00000204121]
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: R161K
SMART Domains Protein: ENSMUSP00000064804
Gene: ENSMUSG00000052730
AA Change: R161K

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 noncoding transcript
Transcript: ENSMUST00000130896
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 noncoding transcript
Transcript: ENSMUST00000150030
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204879
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: ENSMUST00000204521
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 noncoding transcript
Transcript: ENSMUST00000181661
Predicted Effect probably benign
Transcript: ENSMUST00000204121
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.5%
  • 20x: 95.3%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,685,042 (GRCm39) K152E probably benign Het
Adamts20 C A 15: 94,245,691 (GRCm39) C537F probably damaging Het
Apc A T 18: 34,445,581 (GRCm39) T808S probably benign Het
Atad3a A G 4: 155,838,402 (GRCm39) I205T possibly damaging Het
Casz1 G T 4: 149,036,999 (GRCm39) G1754C unknown Het
Ccdc62 C T 5: 124,082,267 (GRCm39) A232V probably damaging Het
Cdc27 C A 11: 104,425,574 (GRCm39) D81Y probably damaging Het
Cep126 A G 9: 8,099,928 (GRCm39) S869P probably damaging Het
Cfap251 C T 5: 123,440,818 (GRCm39) T1125I probably damaging Het
Ciita A T 16: 10,341,610 (GRCm39) K983N probably damaging Het
Cimap1a A G 7: 140,430,527 (GRCm39) probably null Het
Clstn1 A C 4: 149,727,673 (GRCm39) Q523P probably benign Het
Cpb2 T C 14: 75,495,145 (GRCm39) probably null Het
Crybg2 A G 4: 133,818,447 (GRCm39) D1710G probably benign Het
Csmd3 C T 15: 47,744,885 (GRCm39) G1370D probably damaging Het
Cwf19l1 G T 19: 44,115,912 (GRCm39) D172E probably benign Het
Cyp4a14 A G 4: 115,344,441 (GRCm39) F475L probably damaging Het
Fam98c C T 7: 28,852,272 (GRCm39) V298M probably damaging Het
Gcsh T C 8: 117,710,582 (GRCm39) N127S probably benign Het
Gimap4 T C 6: 48,663,814 (GRCm39) F10S possibly damaging Het
Gm4787 C T 12: 81,424,755 (GRCm39) A468T probably damaging Het
Gm7137 C A 10: 77,623,481 (GRCm39) probably benign Het
Inpp1 A G 1: 52,836,224 (GRCm39) S81P probably damaging Het
Iqce T C 5: 140,662,090 (GRCm39) probably null Het
Ivl CCTGCTGCTGCTGCT CCTGCTGCTGCT 3: 92,479,217 (GRCm39) probably benign Het
Krtap13 C A 16: 88,548,131 (GRCm39) C119F probably damaging Het
Lama2 G T 10: 27,088,064 (GRCm39) D904E probably damaging Het
Lrrc37a T A 11: 103,355,213 (GRCm39) I2535F unknown Het
Lrrc40 T A 3: 157,766,901 (GRCm39) L452* probably null Het
Meis1 A T 11: 18,966,184 (GRCm39) M63K possibly damaging Het
Mpo T A 11: 87,688,172 (GRCm39) I277N possibly damaging Het
Mtmr11 T A 3: 96,075,992 (GRCm39) F406I probably benign Het
Muc4 T C 16: 32,575,476 (GRCm39) S1411P probably benign Het
Or2y1b A T 11: 49,208,465 (GRCm39) I31F probably damaging Het
Or4c102 T A 2: 88,422,478 (GRCm39) I110N probably damaging Het
Or56a5 G A 7: 104,792,915 (GRCm39) T195I probably benign Het
Phf21a G A 2: 92,179,282 (GRCm39) G298R probably damaging Het
Phldb2 T C 16: 45,645,477 (GRCm39) Y368C probably damaging Het
Pik3cb G T 9: 98,955,696 (GRCm39) T407K probably benign Het
Robo3 A T 9: 37,328,513 (GRCm39) probably benign Het
Sgsm1 T G 5: 113,430,522 (GRCm39) T288P probably damaging Het
Slc5a7 A G 17: 54,584,061 (GRCm39) S410P probably damaging Het
Tmc6 A C 11: 117,665,062 (GRCm39) C404G probably benign Het
Tnrc6c A T 11: 117,640,440 (GRCm39) Q1410L possibly damaging Het
Trak1 A T 9: 121,280,792 (GRCm39) T384S probably null Het
Txlna A T 4: 129,528,205 (GRCm39) L244Q probably damaging Het
Ube3c T C 5: 29,868,581 (GRCm39) F939L probably damaging Het
Vmn2r65 T A 7: 84,589,574 (GRCm39) I781F probably benign Het
Vmn2r72 A G 7: 85,399,747 (GRCm39) probably null Het
Vps36 T C 8: 22,695,771 (GRCm39) S109P probably damaging Het
Wrn T C 8: 33,833,666 (GRCm39) I82M possibly damaging Het
Zbtb49 T C 5: 38,360,903 (GRCm39) R511G possibly damaging Het
Zeb1 A G 18: 5,772,743 (GRCm39) T1011A possibly damaging Het
Zfhx4 T C 3: 5,467,011 (GRCm39) S2390P probably benign Het
Zfp619 C A 7: 39,184,243 (GRCm39) T91K probably benign Het
Zfp644 A G 5: 106,784,619 (GRCm39) S643P 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
R7701:Gm5111 UTSW 6 48,567,027 (GRCm39) missense unknown
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'- GTGACAACCTGTTTCCATGAG -3'
(R):5'- GTTAGGTCTCCAACACAGTGG -3'

Sequencing Primer
(F):5'- TGTTTCCATGAGAACCAACCCTG -3'
(R):5'- GGGCTATATAGAGAAACCCTGTCTC -3'
Posted On 2018-04-27