Incidental Mutation 'R4334:Gm3173'
ID 323707
Institutional Source Beutler Lab
Gene Symbol Gm3173
Ensembl Gene ENSMUSG00000079386
Gene Name predicted gene 3173
Synonyms
MMRRC Submission 041664-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R4334 (G1)
Quality Score 176
Status Not validated
Chromosome 14
Chromosomal Location 17950321-17955015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 15728364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 8 (I8L)
Ref Sequence ENSEMBL: ENSMUSP00000108396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112776] [ENSMUST00000164603] [ENSMUST00000166848]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000112776
AA Change: I8L

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108396
Gene: ENSMUSG00000079386
AA Change: I8L

DomainStartEndE-ValueType
Pfam:Takusan 1 73 3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164603
SMART Domains Protein: ENSMUSP00000125850
Gene: ENSMUSG00000079386

DomainStartEndE-ValueType
Pfam:Takusan 1 74 2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166848
SMART Domains Protein: ENSMUSP00000127993
Gene: ENSMUSG00000079386

DomainStartEndE-ValueType
Pfam:Takusan 1 74 1.4e-27 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,537,242 (GRCm39) V447E probably damaging Het
Adcyap1 T C 17: 93,509,696 (GRCm39) L49P probably benign Het
B4galt4 T C 16: 38,572,621 (GRCm39) I102T probably damaging Het
Cc2d2a A G 5: 43,840,476 (GRCm39) D110G probably benign Het
Ccdc141 C T 2: 77,000,776 (GRCm39) V19I probably damaging Het
Ccdc39 A G 3: 33,892,031 (GRCm39) L147P probably damaging Het
Cdc5l A T 17: 45,721,712 (GRCm39) D519E probably benign Het
Cdh23 G T 10: 60,220,838 (GRCm39) T1305K probably damaging Het
Cfi T A 3: 129,644,478 (GRCm39) V158D possibly damaging Het
Clstn2 T G 9: 97,345,581 (GRCm39) Y589S probably damaging Het
Dsp A G 13: 38,380,640 (GRCm39) K1863E possibly damaging Het
Enpp3 A T 10: 24,669,487 (GRCm39) M491K probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fkbp15 G A 4: 62,221,456 (GRCm39) A1170V possibly damaging Het
Foxa2 T C 2: 147,886,623 (GRCm39) N64S possibly damaging Het
Foxm1 T C 6: 128,342,930 (GRCm39) I88T probably damaging Het
Gpatch3 A G 4: 133,309,792 (GRCm39) D375G probably damaging Het
Herc2 T C 7: 55,876,402 (GRCm39) F4436L probably damaging Het
Htr3b G A 9: 48,856,809 (GRCm39) A223V probably damaging Het
Iars2 T A 1: 185,035,591 (GRCm39) T550S probably benign Het
Igsf9 A T 1: 172,321,779 (GRCm39) K149* probably null Het
Khnyn A G 14: 56,131,499 (GRCm39) D536G probably damaging Het
Kng1 T C 16: 22,898,370 (GRCm39) V409A possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Madd C T 2: 90,970,917 (GRCm39) V1508I probably benign Het
Micall2 T C 5: 139,699,105 (GRCm39) E527G probably damaging Het
Myo7b A G 18: 32,110,040 (GRCm39) S1141P probably damaging Het
Ncoa2 G A 1: 13,245,187 (GRCm39) P504S possibly damaging Het
Notch1 G A 2: 26,350,048 (GRCm39) T2364I probably benign Het
Pde4c T A 8: 71,202,475 (GRCm39) probably null Het
Pik3cb A G 9: 98,943,904 (GRCm39) L633P probably damaging Het
Ranbp2 T A 10: 58,299,816 (GRCm39) D483E probably damaging Het
Sh3tc2 A G 18: 62,123,392 (GRCm39) N718D probably damaging Het
Spast G A 17: 74,659,010 (GRCm39) A126T probably damaging Het
Ssc5d T C 7: 4,946,663 (GRCm39) S1006P probably benign Het
Tmprss6 T A 15: 78,343,627 (GRCm39) probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Unc79 C T 12: 103,045,233 (GRCm39) T803M probably benign Het
Vmn2r118 A T 17: 55,917,347 (GRCm39) F388L possibly damaging Het
Vmn2r71 T C 7: 85,269,042 (GRCm39) V415A probably benign Het
Wdr4 A T 17: 31,718,126 (GRCm39) F316Y possibly damaging Het
Zfp810 T C 9: 22,190,080 (GRCm39) Y276C probably benign Het
Other mutations in Gm3173
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Gm3173 APN 14 15,728,472 (GRCm39) critical splice donor site probably null
R6021:Gm3173 UTSW 14 15,728,458 (GRCm39) missense probably damaging 1.00
R6545:Gm3173 UTSW 14 15,728,395 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- AGCTTAGCAAACCAGCTGG -3'
(R):5'- GAGATGACGCACTCCATTCATG -3'

Sequencing Primer
(F):5'- CTTAGCAAACCAGCTGGAAGATAGC -3'
(R):5'- CATTCATGGAAGGAAATTGGGTTAAC -3'
Posted On 2015-06-24