Incidental Mutation 'R5171:Gm8765'
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ID398741
Institutional Source Beutler Lab
Gene Symbol Gm8765
Ensembl Gene ENSMUSG00000094918
Gene Namepredicted gene 8765
Synonyms
MMRRC Submission 042751-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #R5171 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location50698312-50703435 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 50700378 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 91 (T91S)
Ref Sequence ENSEMBL: ENSMUSP00000097118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099518]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099518
AA Change: T91S

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097118
Gene: ENSMUSG00000094918
AA Change: T91S

DomainStartEndE-ValueType
low complexity region 69 82 N/A INTRINSIC
Pfam:FAM75 95 418 1.1e-15 PFAM
SCOP:d1i5pa1 811 874 9e-3 SMART
Meta Mutation Damage Score 0.044 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C A 1: 130,742,847 Q269K probably benign Het
Acad9 T A 3: 36,074,398 I136N possibly damaging Het
Adtrp A G 13: 41,777,563 S183P probably damaging Het
Atp11b C T 3: 35,832,937 T690I probably damaging Het
Bcl2l12 G A 7: 44,991,394 probably benign Het
Btnl7-ps T A 17: 34,533,529 noncoding transcript Het
Ccl12 T C 11: 82,102,634 C33R probably damaging Het
Cdc25a T A 9: 109,877,161 S57R probably benign Het
Coro2a T A 4: 46,542,372 probably benign Het
Cpne6 T C 14: 55,512,148 V55A possibly damaging Het
Ddn A G 15: 98,806,326 S362P possibly damaging Het
Dmpk C G 7: 19,088,019 L301V probably benign Het
Dnase1l1 C T X: 74,277,038 probably null Het
Donson A G 16: 91,681,293 V258A possibly damaging Het
Gm3336 G A 8: 70,721,875 V163I probably benign Het
Gper1 C T 5: 139,426,658 R253C probably damaging Het
Gpsm1 T A 2: 26,327,464 probably benign Het
Hip1 A G 5: 135,440,302 S251P probably damaging Het
Ifi214 A G 1: 173,526,634 S157P possibly damaging Het
Igkv4-80 A C 6: 69,016,665 S81A probably benign Het
Kntc1 T C 5: 123,799,844 V1535A probably benign Het
Mbd3l1 A G 9: 18,485,134 N185S probably benign Het
Mnx1 T C 5: 29,474,853 Q252R unknown Het
Mroh3 A T 1: 136,191,656 L463Q possibly damaging Het
Myom1 T C 17: 71,099,972 V1030A possibly damaging Het
Olfr1134 T G 2: 87,656,544 I126L possibly damaging Het
Olfr411 T C 11: 74,346,814 T257A probably benign Het
Olfr988 T C 2: 85,353,770 D52G probably benign Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Ranbp17 A G 11: 33,217,419 Y1015H probably benign Het
Rasal1 C T 5: 120,663,764 T256I probably benign Het
Rexo5 T A 7: 119,823,779 I278N probably damaging Het
Rims2 T A 15: 39,437,103 S77T probably damaging Het
Sdk2 C T 11: 113,850,982 A804T probably benign Het
Slc24a2 T A 4: 86,996,634 I589F probably benign Het
Slc25a38 T A 9: 120,122,115 I217K probably benign Het
Slc5a7 T C 17: 54,276,676 T529A probably benign Het
Spata22 T A 11: 73,336,208 S83T probably damaging Het
Stac2 A T 11: 98,043,498 C127S possibly damaging Het
Tep1 T C 14: 50,824,802 H2531R probably benign Het
Tmem151a G T 19: 5,082,033 R382S probably damaging Het
Trim60 T C 8: 65,000,524 T358A probably benign Het
Unc13c T A 9: 73,757,954 M1048L probably benign Het
Usp29 T C 7: 6,962,075 S306P probably damaging Het
Zfp26 T C 9: 20,444,907 K35R probably benign Het
Zfp462 T A 4: 55,016,986 probably null Het
Other mutations in Gm8765
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Gm8765 APN 13 50700378 missense probably benign 0.18
IGL02452:Gm8765 APN 13 50703077 missense probably damaging 0.99
IGL02610:Gm8765 APN 13 50701712 missense possibly damaging 0.91
IGL03171:Gm8765 APN 13 50702352 missense probably benign 0.23
IGL03369:Gm8765 APN 13 50703164 missense possibly damaging 0.74
PIT4382001:Gm8765 UTSW 13 50700971 missense probably damaging 0.99
R0346:Gm8765 UTSW 13 50703310 missense probably benign 0.12
R1015:Gm8765 UTSW 13 50701628 missense possibly damaging 0.92
R1054:Gm8765 UTSW 13 50702396 missense probably benign 0.01
R1102:Gm8765 UTSW 13 50703082 missense probably benign 0.00
R1519:Gm8765 UTSW 13 50700407 critical splice donor site probably null
R1628:Gm8765 UTSW 13 50702288 missense probably benign 0.25
R1754:Gm8765 UTSW 13 50701087 missense probably damaging 0.98
R4212:Gm8765 UTSW 13 50700352 missense possibly damaging 0.94
R4672:Gm8765 UTSW 13 50703172 missense probably benign
R4780:Gm8765 UTSW 13 50701080 missense probably damaging 0.97
R4794:Gm8765 UTSW 13 50703239 missense probably benign 0.07
R6240:Gm8765 UTSW 13 50701417 missense probably damaging 0.97
R6366:Gm8765 UTSW 13 50701936 missense probably benign 0.01
R6421:Gm8765 UTSW 13 50701951 missense probably benign 0.35
R6644:Gm8765 UTSW 13 50702035 missense possibly damaging 0.54
R6678:Gm8765 UTSW 13 50701910 missense probably benign 0.14
R6788:Gm8765 UTSW 13 50703095 missense probably damaging 0.99
R7030:Gm8765 UTSW 13 50702983 missense possibly damaging 0.52
R7513:Gm8765 UTSW 13 50702873 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GAGAGATGAGGCCCCTTCATTC -3'
(R):5'- AGGATCAAGAGGCCCATCCATC -3'

Sequencing Primer
(F):5'- GAGGCCCCTTCATTCCCCTTG -3'
(R):5'- GAGGCCCATCCATCTGTGTAAATTTG -3'
Posted On2016-07-06