Incidental Mutation 'R4283:Gm10750'
ID 321940
Institutional Source Beutler Lab
Gene Symbol Gm10750
Ensembl Gene ENSMUSG00000074739
Gene Name predicted gene 10750
Synonyms
MMRRC Submission 041651-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R4283 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 148857652-148859157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148857916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 112 (F112L)
Ref Sequence ENSEMBL: ENSMUSP00000096872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099266]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000099266
AA Change: F112L
SMART Domains Protein: ENSMUSP00000096872
Gene: ENSMUSG00000074739
AA Change: F112L

DomainStartEndE-ValueType
low complexity region 75 89 N/A INTRINSIC
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik A G 11: 117,697,087 (GRCm39) T229A probably benign Het
Adgrg5 T G 8: 95,664,326 (GRCm39) V312G probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Camk2b A C 11: 5,937,099 (GRCm39) S327A probably benign Het
Card9 A G 2: 26,247,309 (GRCm39) I280T possibly damaging Het
Cd274 A T 19: 29,357,871 (GRCm39) M188L probably benign Het
Cga T C 4: 34,905,264 (GRCm39) probably null Het
Copg1 C T 6: 87,885,527 (GRCm39) T723M probably damaging Het
Cplx2 A G 13: 54,527,377 (GRCm39) E87G probably damaging Het
Crtc2 A G 3: 90,166,543 (GRCm39) probably benign Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Ghr C A 15: 3,362,930 (GRCm39) V181L possibly damaging Het
Gm17541 A G 12: 4,739,656 (GRCm39) probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hdac10 A G 15: 89,009,826 (GRCm39) L402P possibly damaging Het
Hsd17b12 G C 2: 93,863,931 (GRCm39) R304G unknown Het
Iqgap3 T C 3: 88,006,167 (GRCm39) V526A probably benign Het
Ncaph A G 2: 126,963,005 (GRCm39) probably benign Het
Ninl T C 2: 150,795,336 (GRCm39) probably benign Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pcsk4 C A 10: 80,165,287 (GRCm39) probably benign Het
Ptpn21 T C 12: 98,699,734 (GRCm39) E60G probably damaging Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Ric1 A G 19: 29,563,950 (GRCm39) Y568C probably damaging Het
Slc17a6 A G 7: 51,294,824 (GRCm39) Y177C probably damaging Het
Tas2r104 C T 6: 131,662,374 (GRCm39) A112T probably damaging Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tas2r143 T A 6: 42,378,007 (GRCm39) probably null Het
Tfeb A G 17: 48,100,699 (GRCm39) E305G probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Upf2 A G 2: 5,978,369 (GRCm39) N411S unknown Het
Vmn2r52 C T 7: 9,904,565 (GRCm39) G425R possibly damaging Het
Zfp28 A T 7: 6,396,700 (GRCm39) Q378H probably benign Het
Zfp429 A C 13: 67,538,914 (GRCm39) C177G probably damaging Het
Other mutations in Gm10750
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01721:Gm10750 APN 2 148,857,964 (GRCm39) missense unknown
R0107:Gm10750 UTSW 2 148,857,973 (GRCm39) missense unknown
R7935:Gm10750 UTSW 2 148,858,017 (GRCm39) missense unknown
R8535:Gm10750 UTSW 2 148,857,888 (GRCm39) missense unknown
R9294:Gm10750 UTSW 2 148,858,107 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTCCCTTCCATGGATGCTGG -3'
(R):5'- TTGATGGAATGCAGCAACAC -3'

Sequencing Primer
(F):5'- CCATGGATGCTGGTGCTGC -3'
(R):5'- ACAGCGTCCTGATGGCATTC -3'
Posted On 2015-06-20