Incidental Mutation 'R5815:Gm57859'
ID 449008
Institutional Source Beutler Lab
Gene Symbol Gm57859
Ensembl Gene ENSMUSG00000041623
Gene Name predicted gene, 57859
Synonyms D11Wsu47e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R5815 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 113575238-113585473 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 113578783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042227] [ENSMUST00000106621] [ENSMUST00000120194] [ENSMUST00000123466] [ENSMUST00000153732]
AlphaFold Q6PIX9
Predicted Effect possibly damaging
Transcript: ENSMUST00000042227
AA Change: D59E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042025
Gene: ENSMUSG00000041623
AA Change: D59E

DomainStartEndE-ValueType
low complexity region 273 283 N/A INTRINSIC
low complexity region 491 510 N/A INTRINSIC
transmembrane domain 529 548 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106621
AA Change: D59E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102232
Gene: ENSMUSG00000041623
AA Change: D59E

DomainStartEndE-ValueType
low complexity region 273 283 N/A INTRINSIC
low complexity region 491 510 N/A INTRINSIC
transmembrane domain 529 548 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000120194
SMART Domains Protein: ENSMUSP00000113652
Gene: ENSMUSG00000041629

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 22 48 N/A INTRINSIC
low complexity region 52 71 N/A INTRINSIC
Pfam:FAM104 75 185 3.1e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123466
AA Change: D59E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000153732
AA Change: D59E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid A G 11: 117,726,530 (GRCm39) D226G probably benign Het
Ago2 T C 15: 72,979,215 (GRCm39) probably null Het
Aldh1a1 C A 19: 20,608,034 (GRCm39) D285E probably benign Het
Alms1 T C 6: 85,599,820 (GRCm39) S1549P probably damaging Het
Apmap T C 2: 150,442,171 (GRCm39) S68G probably benign Het
Atp8a1 A T 5: 67,906,414 (GRCm39) I500N probably benign Het
B3gnt7 A C 1: 86,233,510 (GRCm39) D135A probably benign Het
Bms1 A T 6: 118,381,240 (GRCm39) L692H probably damaging Het
Cdk17 T A 10: 93,064,559 (GRCm39) V276E probably damaging Het
Cep290 A T 10: 100,393,970 (GRCm39) E2059V possibly damaging Het
Cpxm2 C A 7: 131,645,839 (GRCm39) G693V probably damaging Het
Crocc A T 4: 140,762,507 (GRCm39) V661E probably damaging Het
D1Pas1 A T 1: 186,700,206 (GRCm39) N45I probably damaging Het
Ddx19a C T 8: 111,705,781 (GRCm39) W223* probably null Het
Ddx60 C A 8: 62,416,756 (GRCm39) S567Y probably damaging Het
Dhx36 A T 3: 62,401,176 (GRCm39) N363K probably damaging Het
Gpr151 G A 18: 42,712,450 (GRCm39) T76M probably benign Het
Inhbc C T 10: 127,193,318 (GRCm39) V233I probably benign Het
Ippk C T 13: 49,599,839 (GRCm39) L233F probably damaging Het
Lama2 A G 10: 26,862,847 (GRCm39) V2972A probably damaging Het
Lrrc37a T C 11: 103,394,612 (GRCm39) Q271R probably benign Het
Mia2 A T 12: 59,220,892 (GRCm39) K1083N possibly damaging Het
Mphosph9 A C 5: 124,453,481 (GRCm39) L277R probably damaging Het
Myo7b A T 18: 32,099,341 (GRCm39) F1694I probably damaging Het
Obscn T C 11: 58,973,015 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2w6 T C 13: 21,842,707 (GRCm39) Y262C probably damaging Het
Pcdh10 A G 3: 45,347,156 (GRCm39) T984A probably benign Het
Pcdh20 T C 14: 88,708,312 (GRCm39) S39G probably benign Het
Pdia3 T A 2: 121,266,892 (GRCm39) Y467* probably null Het
Ptpn13 C A 5: 103,745,556 (GRCm39) probably null Het
Reln A G 5: 22,152,431 (GRCm39) M2345T probably damaging Het
Rnf126 A T 10: 79,602,603 (GRCm39) I20N probably benign Het
Satb1 A G 17: 52,089,981 (GRCm39) S289P possibly damaging Het
Scd4 A T 19: 44,326,003 (GRCm39) H119L probably damaging Het
Sco2 T C 15: 89,256,574 (GRCm39) T27A probably benign Het
Slc39a14 A T 14: 70,544,194 (GRCm39) I464N probably damaging Het
Slc4a8 T A 15: 100,686,092 (GRCm39) V220E probably benign Het
Themis3 C T 17: 66,862,699 (GRCm39) V420I possibly damaging Het
Tmf1 T A 6: 97,150,364 (GRCm39) T448S probably benign Het
Tspan33 G A 6: 29,710,688 (GRCm39) R87Q probably damaging Het
Vmn2r91 A T 17: 18,326,464 (GRCm39) M250L probably benign Het
Zc3h7a A T 16: 10,974,050 (GRCm39) V245D probably damaging Het
Other mutations in Gm57859
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Gm57859 APN 11 113,583,296 (GRCm39) missense probably benign 0.19
IGL01701:Gm57859 APN 11 113,579,927 (GRCm39) missense probably benign 0.27
R0483:Gm57859 UTSW 11 113,580,021 (GRCm39) missense possibly damaging 0.92
R0601:Gm57859 UTSW 11 113,578,712 (GRCm39) missense probably benign 0.38
R1567:Gm57859 UTSW 11 113,578,728 (GRCm39) missense probably damaging 0.99
R4834:Gm57859 UTSW 11 113,579,805 (GRCm39) missense probably benign 0.03
R4923:Gm57859 UTSW 11 113,579,805 (GRCm39) missense probably benign 0.03
R5194:Gm57859 UTSW 11 113,579,654 (GRCm39) missense possibly damaging 0.83
R5779:Gm57859 UTSW 11 113,578,818 (GRCm39) missense probably benign 0.02
R6174:Gm57859 UTSW 11 113,579,801 (GRCm39) missense possibly damaging 0.46
R6566:Gm57859 UTSW 11 113,578,824 (GRCm39) missense probably damaging 0.96
R6837:Gm57859 UTSW 11 113,579,439 (GRCm39) missense possibly damaging 0.90
R6974:Gm57859 UTSW 11 113,578,818 (GRCm39) missense probably benign 0.02
R7497:Gm57859 UTSW 11 113,583,223 (GRCm39) missense probably damaging 0.97
R9439:Gm57859 UTSW 11 113,583,229 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTTTACCTTCCAGGAAGAGCATG -3'
(R):5'- AAGGGGTTGTGACTCTCTGC -3'

Sequencing Primer
(F):5'- CATGGGTGCAGCCGAGC -3'
(R):5'- AGAGTCACCTCTGGCTTGG -3'
Posted On 2016-12-20