Incidental Mutation 'R4022:D17Wsu92e'
ID 313323
Institutional Source Beutler Lab
Gene Symbol D17Wsu92e
Ensembl Gene ENSMUSG00000056692
Gene Name DNA segment, Chr 17, Wayne State University 92, expressed
Synonyms
MMRRC Submission 040956-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4022 (G1)
Quality Score 155
Status Validated
Chromosome 17
Chromosomal Location 27751232-27820558 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27786262 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 107 (E107G)
Ref Sequence ENSEMBL: ENSMUSP00000110513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075076] [ENSMUST00000114859] [ENSMUST00000114863]
AlphaFold Q3TT38
Predicted Effect possibly damaging
Transcript: ENSMUST00000075076
AA Change: E107G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074585
Gene: ENSMUSG00000056692
AA Change: E107G

DomainStartEndE-ValueType
Pfam:UBA_4 25 68 1.6e-13 PFAM
Pfam:N_BRCA1_IG 80 179 1.6e-37 PFAM
low complexity region 257 276 N/A INTRINSIC
low complexity region 282 291 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114859
AA Change: E107G

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110509
Gene: ENSMUSG00000056692
AA Change: E107G

DomainStartEndE-ValueType
Pfam:UBA_4 25 69 5.1e-15 PFAM
PDB:4OLE|D 74 180 2e-9 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000114863
AA Change: E107G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110513
Gene: ENSMUSG00000056692
AA Change: E107G

DomainStartEndE-ValueType
Pfam:UBA_4 25 69 2.2e-14 PFAM
PDB:4OLE|D 74 180 8e-9 PDB
low complexity region 257 276 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121414
Meta Mutation Damage Score 0.5655 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo T A 2: 26,843,800 (GRCm38) Y131F probably damaging Het
Adcy4 C T 14: 55,775,178 (GRCm38) probably null Het
Ago3 T A 4: 126,368,593 (GRCm38) N388I probably benign Het
Arfgef2 G T 2: 166,873,945 (GRCm38) V1385L probably benign Het
Camk2a A T 18: 60,963,928 (GRCm38) K28* probably null Het
Ccdc180 T A 4: 45,904,560 (GRCm38) Y385* probably null Het
Cd209g A T 8: 4,135,955 (GRCm38) Q46L possibly damaging Het
Cdh22 T C 2: 165,157,253 (GRCm38) T220A probably benign Het
Cltc A T 11: 86,720,348 (GRCm38) C562S probably damaging Het
Cyp2c55 T A 19: 39,035,434 (GRCm38) probably null Het
Cyp2d34 A G 15: 82,618,608 (GRCm38) V139A probably benign Het
Ddias G T 7: 92,861,478 (GRCm38) D105E possibly damaging Het
Dhx30 T C 9: 110,084,397 (GRCm38) D1223G possibly damaging Het
Dnajb11 A G 16: 22,869,446 (GRCm38) D238G probably damaging Het
Entpd7 G A 19: 43,691,158 (GRCm38) R50Q probably benign Het
Erbb2 T G 11: 98,435,297 (GRCm38) C966W probably benign Het
Exoc1 C T 5: 76,549,570 (GRCm38) T405I possibly damaging Het
Fbxo28 T C 1: 182,329,910 (GRCm38) N108S possibly damaging Het
Fhdc1 T C 3: 84,445,102 (GRCm38) E157G probably benign Het
Gstcd C T 3: 133,082,068 (GRCm38) V290M probably damaging Het
Hps3 A G 3: 20,035,261 (GRCm38) V2A possibly damaging Het
Itsn2 G A 12: 4,624,927 (GRCm38) R23H probably damaging Het
Kirrel C T 3: 87,089,151 (GRCm38) M380I probably null Het
Lax1 C T 1: 133,683,036 (GRCm38) G105S probably benign Het
Lin7c G T 2: 109,896,445 (GRCm38) probably null Het
Lrrn2 T C 1: 132,939,114 (GRCm38) V639A probably benign Het
Luzp1 T C 4: 136,542,193 (GRCm38) S576P probably benign Het
Mast4 G T 13: 102,853,869 (GRCm38) A48E probably damaging Het
Mast4 G A 13: 102,739,321 (GRCm38) R1112* probably null Het
Mat2a G A 6: 72,436,244 (GRCm38) R168C probably damaging Het
Megf8 T C 7: 25,337,775 (GRCm38) V700A probably damaging Het
Mroh2a G C 1: 88,246,042 (GRCm38) A871P probably damaging Het
Myh2 G T 11: 67,179,404 (GRCm38) E421* probably null Het
Olfr102 T A 17: 37,314,274 (GRCm38) I37L probably benign Het
Olfr181 T C 16: 58,926,120 (GRCm38) I150M possibly damaging Het
Pecam1 T C 11: 106,655,160 (GRCm38) N693D probably benign Het
Ppip5k1 C T 2: 121,337,627 (GRCm38) R715H probably damaging Het
Prune2 A G 19: 17,000,020 (GRCm38) T40A probably damaging Het
Ranbp17 G A 11: 33,479,189 (GRCm38) A352V probably benign Het
Reln T C 5: 22,227,630 (GRCm38) Q124R probably benign Het
Rnf17 C T 14: 56,460,001 (GRCm38) H451Y probably damaging Het
Ryr3 C G 2: 112,675,873 (GRCm38) R3443P probably damaging Het
Sall3 T A 18: 80,969,840 (GRCm38) E1127V probably benign Het
Sertad3 A G 7: 27,476,695 (GRCm38) N185D probably damaging Het
Sox1 A G 8: 12,396,719 (GRCm38) Y120C probably damaging Het
Spag17 A T 3: 100,049,230 (GRCm38) I881F probably benign Het
Spg20 G T 3: 55,117,736 (GRCm38) V251L probably damaging Het
Stard9 A G 2: 120,704,155 (GRCm38) E3631G probably benign Het
Syde2 A G 3: 146,015,725 (GRCm38) T848A probably benign Het
Tmem11 T C 11: 60,865,328 (GRCm38) D12G possibly damaging Het
Trim28 T C 7: 13,028,558 (GRCm38) probably benign Het
Tsen2 T A 6: 115,547,987 (GRCm38) V49E probably damaging Het
Tspan1 C T 4: 116,167,035 (GRCm38) M10I probably benign Het
Uncx A T 5: 139,546,689 (GRCm38) T170S probably damaging Het
Usp24 T C 4: 106,379,224 (GRCm38) probably benign Het
Vmn1r84 T C 7: 12,361,930 (GRCm38) I267V probably benign Het
Zfp488 T A 14: 33,971,153 (GRCm38) M18L probably benign Het
Other mutations in D17Wsu92e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:D17Wsu92e APN 17 27,767,919 (GRCm38) missense probably damaging 1.00
IGL01107:D17Wsu92e APN 17 27,786,069 (GRCm38) critical splice donor site probably null
IGL01805:D17Wsu92e APN 17 27,767,906 (GRCm38) splice site probably benign
detroit UTSW 17 27,794,070 (GRCm38) splice site probably null
michigander UTSW 17 27,767,986 (GRCm38) missense probably benign 0.12
R0423:D17Wsu92e UTSW 17 27,786,233 (GRCm38) missense probably damaging 1.00
R0833:D17Wsu92e UTSW 17 27,786,138 (GRCm38) missense probably damaging 1.00
R0836:D17Wsu92e UTSW 17 27,786,138 (GRCm38) missense probably damaging 1.00
R1055:D17Wsu92e UTSW 17 27,767,936 (GRCm38) missense probably damaging 1.00
R1251:D17Wsu92e UTSW 17 27,786,070 (GRCm38) critical splice donor site probably null
R1646:D17Wsu92e UTSW 17 27,793,960 (GRCm38) missense probably damaging 1.00
R4604:D17Wsu92e UTSW 17 27,820,315 (GRCm38) missense probably damaging 1.00
R5360:D17Wsu92e UTSW 17 27,794,046 (GRCm38) missense probably damaging 1.00
R6210:D17Wsu92e UTSW 17 27,767,986 (GRCm38) missense probably benign 0.12
R7201:D17Wsu92e UTSW 17 27,794,070 (GRCm38) splice site probably null
R7994:D17Wsu92e UTSW 17 27,767,943 (GRCm38) missense probably benign
R8057:D17Wsu92e UTSW 17 27,767,889 (GRCm38) missense unknown
R8767:D17Wsu92e UTSW 17 27,768,069 (GRCm38) missense probably benign 0.01
R9269:D17Wsu92e UTSW 17 27,786,075 (GRCm38) nonsense probably null
R9629:D17Wsu92e UTSW 17 27,793,939 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCCATCATGAGGACACACTC -3'
(R):5'- TGTTACCCACGGAACCATTTC -3'

Sequencing Primer
(F):5'- CTCCATAGTAGAGTCCAGTAGCAGTG -3'
(R):5'- GGAACCATTTCTCCCACCTCAC -3'
Posted On 2015-04-30