Incidental Mutation 'R3903:Gm595'
ID309285
Institutional Source Beutler Lab
Gene Symbol Gm595
Ensembl Gene ENSMUSG00000079606
Gene Namepredicted gene 595
SynonymsLOC209005
MMRRC Submission 040907-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #R3903 (G1)
Quality Score222
Status Validated
ChromosomeX
Chromosomal Location48841466-48877713 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 48841544 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 649 (N649S)
Ref Sequence ENSEMBL: ENSMUSP00000110578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114928]
Predicted Effect possibly damaging
Transcript: ENSMUST00000114928
AA Change: N649S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110578
Gene: ENSMUSG00000079606
AA Change: N649S

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 110 120 N/A INTRINSIC
coiled coil region 150 183 N/A INTRINSIC
low complexity region 308 329 N/A INTRINSIC
internal_repeat_1 335 462 1.55e-9 PROSPERO
internal_repeat_1 478 616 1.55e-9 PROSPERO
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amd1 C T 10: 40,290,457 R210H probably benign Het
Amt C T 9: 108,297,221 R62C possibly damaging Het
Ap3m1 T C 14: 21,036,664 Y185C probably null Het
Calcrl T A 2: 84,368,642 probably benign Het
Ccdc178 C T 18: 22,023,095 V573I possibly damaging Het
Cdh6 T C 15: 13,042,575 K499R probably benign Het
Col1a2 G A 6: 4,518,822 probably benign Het
Col6a1 C T 10: 76,711,341 R730H unknown Het
Cyp4f40 C A 17: 32,659,624 R47S possibly damaging Het
Eif4a2 AG A 16: 23,110,640 probably null Het
Gm8180 T A 14: 43,783,635 R39W probably null Het
Golm1 T C 13: 59,638,340 Q346R probably damaging Het
Grap T G 11: 61,660,325 probably null Het
Hormad2 A G 11: 4,427,237 probably benign Het
Hyal1 T C 9: 107,578,972 probably null Het
Kif12 A G 4: 63,167,976 V378A possibly damaging Het
Lrrk2 A T 15: 91,747,700 S1276C probably damaging Het
Lrrk2 G A 15: 91,747,701 S1276N probably damaging Het
Obscn T C 11: 59,131,646 R758G possibly damaging Het
Olfr1276 A T 2: 111,257,769 Y218F probably damaging Het
Olfr1356 T G 10: 78,847,298 I206L probably benign Het
Olfr898 C T 9: 38,349,658 Q186* probably null Het
Pabpc6 T C 17: 9,669,154 E156G probably benign Het
Rorb A G 19: 18,962,099 Y155H probably damaging Het
Samd9l T A 6: 3,376,830 K144* probably null Het
Scn1a A G 2: 66,318,132 I3T probably benign Het
Serpinb9 T C 13: 33,010,810 M183T possibly damaging Het
Wnk1 A G 6: 119,949,051 S1151P probably damaging Het
Xirp2 C T 2: 67,508,036 T207I probably benign Het
Zfp39 T C 11: 58,890,175 Y587C probably benign Het
Other mutations in Gm595
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03195:Gm595 APN X 48872948 missense possibly damaging 0.79
R3904:Gm595 UTSW X 48841544 missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- ACAGACGGTTGGTGGCATTC -3'
(R):5'- AATAATACCCCTTTGTATCAGGCAG -3'

Sequencing Primer
(F):5'- GTGGCATTCCTTCTGTGCTCAG -3'
(R):5'- ATACCCCTTTGTATCAGGCAGTGTAG -3'
Posted On2015-04-17