Incidental Mutation 'R5043:Gm6483'
ID393302
Institutional Source Beutler Lab
Gene Symbol Gm6483
Ensembl Gene ENSMUSG00000087153
Gene Namepredicted gene 6483
Synonyms
MMRRC Submission 042633-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.170) question?
Stock #R5043 (G1)
Quality Score195
Status Validated
Chromosome8
Chromosomal Location19682268-19698275 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 19693670 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 104 (T104A)
Gene Model predicted gene model for transcript(s):
Predicted Effect probably benign
Transcript: ENSMUST00000127799
AA Change: T104A

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119559
Gene: ENSMUSG00000087153
AA Change: T104A

DomainStartEndE-ValueType
CA 30 115 1.02e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133001
AA Change: *379W
Predicted Effect probably benign
Transcript: ENSMUST00000153710
AA Change: T104A

PolyPhen 2 Score 0.343 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116798
Gene: ENSMUSG00000087153
AA Change: T104A

DomainStartEndE-ValueType
CA 30 115 1.02e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155660
Meta Mutation Damage Score 0.048 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.4%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 145,044,100 Y106* probably null Het
1700061G19Rik A G 17: 56,885,198 Y587C probably damaging Het
Akap12 G C 10: 4,355,047 G619A probably damaging Het
Arhgap29 A G 3: 121,974,004 K32E probably benign Het
Capg T A 6: 72,558,254 Y253* probably null Het
Cntnap3 A T 13: 64,794,348 F189L probably damaging Het
Cp T C 3: 19,973,917 S496P probably benign Het
Cxcl11 T C 5: 92,363,152 probably null Het
Dennd3 T C 15: 73,527,936 L217P probably benign Het
Dip2c G T 13: 9,551,827 R274L possibly damaging Het
Dnah12 C T 14: 26,884,190 S3776L probably damaging Het
Emcn A G 3: 137,391,601 T94A possibly damaging Het
Fnip2 A T 3: 79,492,867 Y397* probably null Het
Gabrp T C 11: 33,568,072 N79D probably benign Het
Glmp T G 3: 88,326,676 probably benign Het
Gm12794 T C 4: 101,940,524 F40L possibly damaging Het
Gm5921 C T 9: 115,438,019 noncoding transcript Het
Ifi206 A T 1: 173,486,718 M52K probably damaging Het
Iqcc T C 4: 129,618,277 probably benign Het
Klra2 T A 6: 131,220,172 H288L probably benign Het
Myo5b T C 18: 74,638,153 probably null Het
Nisch A G 14: 31,176,465 probably benign Het
Nlrp4c A G 7: 6,066,825 N575S probably benign Het
Olfr354 A C 2: 36,906,965 R6S probably benign Het
Olfr913 A G 9: 38,594,841 I207V probably damaging Het
Phlda1 T A 10: 111,507,291 L296Q unknown Het
Rab36 G A 10: 75,051,005 E182K probably benign Het
Rasa3 G A 8: 13,570,368 T767M possibly damaging Het
Serpinb11 G A 1: 107,369,465 V24M probably damaging Het
Slc7a14 T G 3: 31,237,466 N221T probably damaging Het
Smg6 T C 11: 74,929,895 S331P possibly damaging Het
Snx1 C T 9: 66,097,436 A183T probably benign Het
Srpk2 T C 5: 23,524,517 T375A probably benign Het
Tecpr1 T C 5: 144,197,854 probably null Het
Topaz1 A T 9: 122,748,404 E126D probably benign Het
Ugt2b1 C G 5: 86,917,644 C512S possibly damaging Het
Ugt2b37 C T 5: 87,251,860 W263* probably null Het
Utp20 A T 10: 88,798,746 M750K possibly damaging Het
Yeats2 A T 16: 20,208,465 Q822L probably damaging Het
Zfp609 T C 9: 65,700,827 Y1257C probably damaging Het
Other mutations in Gm6483
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Gm6483 APN 8 19691647 splice site noncoding transcript
IGL01710:Gm6483 APN 8 19691613 missense probably damaging 1.00
IGL02275:Gm6483 APN 8 19691613 missense probably damaging 1.00
IGL02676:Gm6483 APN 8 19693659 exon noncoding transcript
R0617:Gm6483 UTSW 8 19693709 missense probably damaging 1.00
R4152:Gm6483 UTSW 8 19687910 splice site noncoding transcript
Predicted Primers PCR Primer
(F):5'- ATCTTTAGGTTCCCAGGATGTAAC -3'
(R):5'- ACACTGTTTAACTTTCCTCGGTGTG -3'

Sequencing Primer
(F):5'- ACAGCCCTTCCCAATATG -3'
(R):5'- AACTTTCCTCGGTGTGTTTTTAAGTC -3'
Posted On2016-06-15