Incidental Mutation 'R1029:Gm10553'
ID 226121
Institutional Source Beutler Lab
Gene Symbol Gm10553
Ensembl Gene ENSMUSG00000073631
Gene Name predicted gene 10553
Synonyms
MMRRC Submission 039131-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R1029 (G1)
Quality Score 49
Status Validated
Chromosome 1
Chromosomal Location 85077233-85078795 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85078170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 96 (S96P)
Ref Sequence ENSEMBL: ENSMUSP00000137265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097669] [ENSMUST00000160792] [ENSMUST00000161675] [ENSMUST00000161724]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000097669
AA Change: S96P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137265
Gene: ENSMUSG00000073631
AA Change: S96P

DomainStartEndE-ValueType
low complexity region 111 123 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159114
Predicted Effect probably benign
Transcript: ENSMUST00000160792
SMART Domains Protein: ENSMUSP00000125122
Gene: ENSMUSG00000089844

DomainStartEndE-ValueType
Pfam:Sp100 23 125 9.7e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161675
SMART Domains Protein: ENSMUSP00000123812
Gene: ENSMUSG00000089844

DomainStartEndE-ValueType
Pfam:Sp100 23 121 3.7e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161724
SMART Domains Protein: ENSMUSP00000123750
Gene: ENSMUSG00000089844

DomainStartEndE-ValueType
Pfam:Sp100 24 122 2.4e-40 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 94.5%
Validation Efficiency 92% (36/39)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik A G 11: 30,376,177 (GRCm39) L230S probably damaging Het
4930505A04Rik A G 11: 30,396,389 (GRCm39) probably benign Het
Atg2b A G 12: 105,602,032 (GRCm39) I1648T probably damaging Het
Ccdc110 T C 8: 46,394,817 (GRCm39) F236S probably damaging Het
Ccdc178 T C 18: 22,230,782 (GRCm39) D363G possibly damaging Het
Cntn5 T A 9: 9,831,577 (GRCm39) D601V probably damaging Het
Cog7 C T 7: 121,529,752 (GRCm39) probably null Het
Dnah7c A G 1: 46,651,881 (GRCm39) K1365E probably damaging Het
Dock9 T C 14: 121,837,096 (GRCm39) probably null Het
Ehd3 T A 17: 74,123,321 (GRCm39) I108N probably benign Het
Erbb4 A G 1: 68,348,773 (GRCm39) S535P probably damaging Het
Fam170a T C 18: 50,414,741 (GRCm39) V129A probably damaging Het
Gfra3 T C 18: 34,823,892 (GRCm39) T361A probably benign Het
Gm10295 A T 7: 71,000,448 (GRCm39) I44K unknown Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Hspa13 A T 16: 75,562,125 (GRCm39) Y25N probably damaging Het
Lrfn3 G A 7: 30,055,347 (GRCm39) P533S probably damaging Het
Lrp4 A G 2: 91,317,372 (GRCm39) probably benign Het
Mical3 T C 6: 120,911,639 (GRCm39) D1991G probably benign Het
Myoz1 A G 14: 20,700,600 (GRCm39) Y206H probably damaging Het
Or2at1 A T 7: 99,416,431 (GRCm39) I21F probably benign Het
Otog A G 7: 45,924,019 (GRCm39) E1126G probably damaging Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Prkdc A G 16: 15,472,613 (GRCm39) probably benign Het
Pttg1ip2 C T 5: 5,505,919 (GRCm39) A121T probably benign Het
Rab7 A G 6: 87,990,624 (GRCm39) S17P probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Sppl2a A G 2: 126,765,514 (GRCm39) S203P probably benign Het
Taar7a A G 10: 23,868,439 (GRCm39) I314T possibly damaging Het
Tgs1 T C 4: 3,593,471 (GRCm39) I453T probably damaging Het
Tmem117 C A 15: 94,909,217 (GRCm39) T210N probably benign Het
Trim55 A G 3: 19,698,906 (GRCm39) N45S probably damaging Het
Ugt2b34 G C 5: 87,052,246 (GRCm39) S250* probably null Het
Vmn2r67 G A 7: 84,785,974 (GRCm39) T677I probably damaging Het
Zfp335 C G 2: 164,734,598 (GRCm39) probably benign Het
Znrf1 T A 8: 112,263,986 (GRCm39) Y72N probably damaging Het
Other mutations in Gm10553
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02172:Gm10553 APN 1 85,078,015 (GRCm39) missense probably damaging 0.97
IGL02928:Gm10553 APN 1 85,077,933 (GRCm39) missense possibly damaging 0.66
R1145:Gm10553 UTSW 1 85,078,170 (GRCm39) missense probably benign
R1950:Gm10553 UTSW 1 85,078,141 (GRCm39) missense possibly damaging 0.90
R9646:Gm10553 UTSW 1 85,077,901 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GTTCTGTCCTCACATGACCCAACTG -3'
(R):5'- AGTGCCATCACCAAGCCGTTTC -3'

Sequencing Primer
(F):5'- GTTACATTACACAAGTGACCCTGG -3'
(R):5'- ATCACCAAGCCGTTTCCTTTC -3'
Posted On 2014-09-15