Incidental Mutation 'R0423:D17Wsu92e'
ID 38611
Institutional Source Beutler Lab
Gene Symbol D17Wsu92e
Ensembl Gene ENSMUSG00000056692
Gene Name DNA segment, Chr 17, Wayne State University 92, expressed
Synonyms
MMRRC Submission 038625-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0423 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 27751232-27820558 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 27786233 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 117 (Y117D)
Ref Sequence ENSEMBL: ENSMUSP00000110513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075076] [ENSMUST00000114859] [ENSMUST00000114863]
AlphaFold Q3TT38
Predicted Effect probably damaging
Transcript: ENSMUST00000075076
AA Change: Y117D

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074585
Gene: ENSMUSG00000056692
AA Change: Y117D

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: Y117D

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110509
Gene: ENSMUSG00000056692
AA Change: Y117D

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: Y117D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110513
Gene: ENSMUSG00000056692
AA Change: Y117D

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 0.9087 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.9%
Validation Efficiency 99% (84/85)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007K13Rik T C 2: 28,466,024 (GRCm38) probably benign Het
4930432E11Rik A T 7: 29,562,400 (GRCm38) noncoding transcript Het
A630001G21Rik A G 1: 85,726,466 (GRCm38) I50T probably benign Het
Abhd12 T C 2: 150,838,392 (GRCm38) T264A possibly damaging Het
Acsm3 T C 7: 119,777,159 (GRCm38) Y370H probably damaging Het
Ank2 G T 3: 126,929,860 (GRCm38) Y3789* probably null Het
Anxa4 C T 6: 86,760,737 (GRCm38) A1T probably damaging Het
Apba1 T A 19: 23,944,998 (GRCm38) V810D probably damaging Het
Bank1 A G 3: 136,284,017 (GRCm38) I104T possibly damaging Het
Birc6 T C 17: 74,696,297 (GRCm38) Y4721H probably damaging Het
Bmpr2 A G 1: 59,868,510 (GRCm38) T921A probably benign Het
Ccdc102a A C 8: 94,905,926 (GRCm38) probably benign Het
Ccdc141 C A 2: 77,039,450 (GRCm38) D904Y probably damaging Het
Ccdc96 A G 5: 36,485,247 (GRCm38) K199R probably benign Het
Cdh10 G A 15: 18,986,879 (GRCm38) V399I probably benign Het
Cenpk A G 13: 104,234,225 (GRCm38) T85A probably benign Het
Col6a2 A C 10: 76,614,917 (GRCm38) V60G possibly damaging Het
Cops7b A G 1: 86,599,031 (GRCm38) D119G probably benign Het
Cstf2t A G 19: 31,084,276 (GRCm38) E404G possibly damaging Het
Ctnna2 A T 6: 77,653,069 (GRCm38) V134E probably damaging Het
Cwh43 A C 5: 73,416,742 (GRCm38) M250L probably benign Het
Daam2 T A 17: 49,469,421 (GRCm38) K813* probably null Het
Dhcr24 G A 4: 106,586,536 (GRCm38) probably benign Het
Dnah8 G T 17: 30,701,981 (GRCm38) R1182L probably benign Het
Doc2a C T 7: 126,848,658 (GRCm38) P25S probably damaging Het
Dst A G 1: 34,278,035 (GRCm38) S6823G possibly damaging Het
Espl1 T A 15: 102,303,986 (GRCm38) L509* probably null Het
Fbxw19 C T 9: 109,486,066 (GRCm38) V143I probably benign Het
Fbxw5 A G 2: 25,504,526 (GRCm38) T171A possibly damaging Het
Gfra2 C T 14: 70,896,081 (GRCm38) T117M probably damaging Het
Gm454 T A 5: 138,204,141 (GRCm38) noncoding transcript Het
Kcnq4 A G 4: 120,717,508 (GRCm38) S120P probably damaging Het
Krt84 A T 15: 101,528,720 (GRCm38) L336Q probably damaging Het
Lilra6 T A 7: 3,914,775 (GRCm38) probably benign Het
Mbnl2 G A 14: 120,325,324 (GRCm38) R29H probably damaging Het
Mcm3ap G A 10: 76,502,705 (GRCm38) G1389D probably benign Het
Mettl13 A T 1: 162,544,385 (GRCm38) I305N probably damaging Het
Muc6 A G 7: 141,652,283 (GRCm38) S30P probably benign Het
Myh7 T A 14: 54,979,189 (GRCm38) Q1237L probably benign Het
Myo9a T G 9: 59,895,336 (GRCm38) D2035E probably damaging Het
Nat10 A G 2: 103,748,227 (GRCm38) S211P probably damaging Het
Ntm T C 9: 29,179,099 (GRCm38) Y108C probably damaging Het
Olfr292 T C 7: 86,695,226 (GRCm38) Y257H possibly damaging Het
Olfr843 A T 9: 19,248,952 (GRCm38) L149* probably null Het
Pcdhb16 A G 18: 37,480,369 (GRCm38) D794G probably benign Het
Phlpp1 A G 1: 106,339,615 (GRCm38) T753A probably benign Het
Pnldc1 T C 17: 12,890,076 (GRCm38) Q511R possibly damaging Het
Ppip5k2 A G 1: 97,761,427 (GRCm38) S38P possibly damaging Het
Pygb A G 2: 150,823,984 (GRCm38) K593E probably benign Het
Rangap1 A T 15: 81,705,463 (GRCm38) F564I probably damaging Het
Rictor A T 15: 6,773,900 (GRCm38) I498F possibly damaging Het
Rnase12 A T 14: 51,057,156 (GRCm38) V22D probably benign Het
Rpl7l1 T A 17: 46,780,398 (GRCm38) M93L probably benign Het
Smg1 T C 7: 118,176,880 (GRCm38) R1396G possibly damaging Het
Snx19 C A 9: 30,435,837 (GRCm38) T692N probably damaging Het
Spag6 A G 2: 18,710,593 (GRCm38) D61G probably benign Het
Spen T A 4: 141,479,336 (GRCm38) N660I unknown Het
Sptan1 T G 2: 30,028,672 (GRCm38) C2246G probably null Het
Svopl A G 6: 38,036,707 (GRCm38) probably benign Het
Taf2 A T 15: 55,064,682 (GRCm38) N108K probably benign Het
Thbs4 T C 13: 92,756,571 (GRCm38) D703G probably damaging Het
Tle6 G T 10: 81,598,623 (GRCm38) N47K possibly damaging Het
Usp48 G T 4: 137,616,411 (GRCm38) V452L probably benign Het
Ust A T 10: 8,298,148 (GRCm38) S198T probably damaging Het
Wnk2 T A 13: 49,095,418 (GRCm38) M386L possibly damaging Het
Ywhaq T C 12: 21,391,381 (GRCm38) probably benign Het
Zfp11 C T 5: 129,658,238 (GRCm38) G53E possibly damaging Het
Zfp316 A G 5: 143,253,238 (GRCm38) S1009P probably damaging Het
Zfp963 A G 8: 69,744,506 (GRCm38) Y29H probably damaging Het
Zmym4 A G 4: 126,882,319 (GRCm38) probably benign Het
Zranb3 A G 1: 128,091,870 (GRCm38) I45T probably damaging 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
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
R4022:D17Wsu92e UTSW 17 27,786,262 (GRCm38) missense probably damaging 0.97
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'- CACTGCATTGTACGCAATGGCTTC -3'
(R):5'- ACAGTTCTCTGTGCTGAGTGACCC -3'

Sequencing Primer
(F):5'- CTAAGGAGGTGCTGTCCGAAC -3'
(R):5'- CTGAGTGACCCGAGACAGTATTAG -3'
Posted On 2013-05-23