Incidental Mutation 'R6692:Gm765'
ID527912
Institutional Source Beutler Lab
Gene Symbol Gm765
Ensembl Gene ENSMUSG00000090667
Gene Namepredicted gene 765
SynonymsLOC330390
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #R6692 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location98235708-98342754 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 98248208 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Proline at position 38 (H38P)
Ref Sequence ENSEMBL: ENSMUSP00000127120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164491]
Predicted Effect possibly damaging
Transcript: ENSMUST00000164491
AA Change: H38P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127120
Gene: ENSMUSG00000090667
AA Change: H38P

DomainStartEndE-ValueType
Pfam:MDFI 13 189 1.8e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205146
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahcyl1 C T 3: 107,675,085 G54D probably damaging Het
Aldh1b1 T C 4: 45,803,427 C322R probably damaging Het
Cdc14b T C 13: 64,215,563 I258V probably damaging Het
Cenph T C 13: 100,772,735 I55V probably benign Het
Cep290 T A 10: 100,569,144 probably null Het
Ces2b A G 8: 104,837,287 Y431C probably damaging Het
Cyp4f17 T C 17: 32,506,976 S28P possibly damaging Het
Cyp4f40 C G 17: 32,675,742 T427S possibly damaging Het
Exoc2 A G 13: 30,935,507 I137T probably benign Het
Fam168b C A 1: 34,836,741 G21V probably damaging Het
G3bp1 T A 11: 55,493,509 D168E probably benign Het
Impg2 T A 16: 56,252,333 L376H probably damaging Het
Kdm4d A T 9: 14,463,065 M499K probably benign Het
Lonp1 C T 17: 56,619,230 V426M probably damaging Het
Lypla2 C A 4: 135,970,862 A26S probably benign Het
Map3k13 T C 16: 21,905,237 V323A possibly damaging Het
Mov10 A G 3: 104,818,044 L83P probably damaging Het
Mphosph9 G T 5: 124,260,116 A1039D probably damaging Het
Nedd1 T C 10: 92,698,337 K317R possibly damaging Het
Olfr1117-ps1 A G 2: 87,308,992 T68A possibly damaging Het
Pde3a T A 6: 141,479,346 S623T probably damaging Het
Pld1 T A 3: 28,041,199 M227K probably benign Het
Rell1 T G 5: 63,937,867 K85N probably damaging Het
Rhbdf1 T C 11: 32,215,652 T93A probably damaging Het
Sccpdh T A 1: 179,684,227 M88K possibly damaging Het
Siae T G 9: 37,642,799 probably null Het
Slc22a16 G A 10: 40,603,905 E637K unknown Het
Stk19 C T 17: 34,824,794 G95S probably benign Het
Stpg2 G A 3: 139,522,977 probably null Het
Sult2a5 T A 7: 13,624,132 F30I probably damaging Het
Svil A G 18: 5,082,853 E748G probably damaging Het
Swap70 T A 7: 110,269,919 H306Q probably benign Het
Try10 G A 6: 41,357,821 G227D probably damaging Het
Ttn T C 2: 76,896,369 probably benign Het
Ttn T A 2: 76,919,092 H3871L probably benign Het
Vmn1r231 T C 17: 20,890,483 I57V possibly damaging Het
Vpreb1 A G 16: 16,868,802 S75P probably damaging Het
Zkscan5 A G 5: 145,221,084 probably null Het
Other mutations in Gm765
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02184:Gm765 APN 6 98248098 missense possibly damaging 0.81
IGL02217:Gm765 APN 6 98248072 missense possibly damaging 0.93
R0508:Gm765 UTSW 6 98238044 utr 3 prime probably benign
R1375:Gm765 UTSW 6 98238299 missense possibly damaging 0.77
R1694:Gm765 UTSW 6 98238139 missense probably damaging 0.98
R1944:Gm765 UTSW 6 98248190 missense probably benign 0.01
R4906:Gm765 UTSW 6 98238119 missense probably damaging 1.00
R5472:Gm765 UTSW 6 98238276 missense probably damaging 1.00
R5680:Gm765 UTSW 6 98248226 missense probably damaging 0.99
R6285:Gm765 UTSW 6 98238173 missense probably damaging 1.00
R7354:Gm765 UTSW 6 98238281 missense probably damaging 0.97
Z1177:Gm765 UTSW 6 98238240 missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- CCGATGAACTGAAGTATTAGTTTGGAG -3'
(R):5'- GGTTTGCCCAACTCACCATC -3'

Sequencing Primer
(F):5'- AACTGAAGTATTAGTTTGGAGGTAGG -3'
(R):5'- ACTCACCATCTTAAAAACTGATGTAG -3'
Posted On2018-07-23