Incidental Mutation 'IGL01930:Wdr76'
ID180411
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr76
Ensembl Gene ENSMUSG00000027242
Gene NameWD repeat domain 76
Synonyms5830411K18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.192) question?
Stock #IGL01930
Quality Score
Status
Chromosome2
Chromosomal Location121506723-121544860 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121510822 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 116 (D116G)
Ref Sequence ENSEMBL: ENSMUSP00000106234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028676] [ENSMUST00000089926] [ENSMUST00000099473] [ENSMUST00000110602] [ENSMUST00000110603]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028676
AA Change: D18G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028676
Gene: ENSMUSG00000027242
AA Change: D18G

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 40 49 N/A INTRINSIC
low complexity region 93 109 N/A INTRINSIC
low complexity region 137 154 N/A INTRINSIC
WD40 205 244 8.59e-1 SMART
WD40 249 289 1.63e-4 SMART
WD40 292 331 1.98e1 SMART
WD40 336 375 4.75e1 SMART
WD40 383 423 9.24e-4 SMART
low complexity region 424 435 N/A INTRINSIC
WD40 479 520 2.28e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000089926
SMART Domains Protein: ENSMUSP00000087372
Gene: ENSMUSG00000068479

DomainStartEndE-ValueType
low complexity region 51 59 N/A INTRINSIC
low complexity region 64 84 N/A INTRINSIC
low complexity region 108 123 N/A INTRINSIC
coiled coil region 134 150 N/A INTRINSIC
Pfam:MFAP1 190 399 1.6e-81 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000099473
AA Change: D18G
SMART Domains Protein: ENSMUSP00000097072
Gene: ENSMUSG00000027242
AA Change: D18G

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 40 49 N/A INTRINSIC
low complexity region 109 125 N/A INTRINSIC
low complexity region 153 170 N/A INTRINSIC
WD40 221 260 8.59e-1 SMART
WD40 265 305 1.63e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110602
AA Change: D18G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106232
Gene: ENSMUSG00000027242
AA Change: D18G

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
low complexity region 40 49 N/A INTRINSIC
low complexity region 93 109 N/A INTRINSIC
low complexity region 137 154 N/A INTRINSIC
WD40 205 244 8.59e-1 SMART
WD40 249 289 1.63e-4 SMART
WD40 292 331 1.98e1 SMART
WD40 336 375 4.75e1 SMART
WD40 383 423 9.24e-4 SMART
low complexity region 424 435 N/A INTRINSIC
WD40 479 520 2.28e2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110603
AA Change: D116G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106234
Gene: ENSMUSG00000027242
AA Change: D116G

DomainStartEndE-ValueType
low complexity region 56 94 N/A INTRINSIC
low complexity region 97 114 N/A INTRINSIC
low complexity region 138 147 N/A INTRINSIC
low complexity region 191 207 N/A INTRINSIC
low complexity region 235 252 N/A INTRINSIC
WD40 303 342 8.59e-1 SMART
WD40 347 387 1.63e-4 SMART
WD40 390 429 1.98e1 SMART
WD40 434 473 4.75e1 SMART
WD40 481 521 9.24e-4 SMART
low complexity region 522 533 N/A INTRINSIC
WD40 577 618 2.28e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132373
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810011H11Rik G A 14: 32,816,857 E92K probably benign Het
4930433N12Rik C T 9: 3,134,875 noncoding transcript Het
Acsf3 A G 8: 122,780,346 Y126C probably benign Het
Akr1c20 T A 13: 4,507,648 probably benign Het
Cdan1 T C 2: 120,726,582 probably benign Het
Cdc42bpg C T 19: 6,311,368 A308V probably damaging Het
Dek T C 13: 47,088,135 I318V probably benign Het
Dvl1 A G 4: 155,856,188 M422V possibly damaging Het
Erbin G A 13: 103,841,172 L626F probably damaging Het
Fa2h A T 8: 111,349,304 V229E possibly damaging Het
Gfpt1 T A 6: 87,059,415 H193Q possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gpr162 A G 6: 124,861,612 L25P possibly damaging Het
Hsd3b5 T C 3: 98,622,159 T52A probably benign Het
Megf8 T A 7: 25,334,861 V668D probably damaging Het
Olfr418 T C 1: 173,270,610 V145A probably benign Het
Prkdc A G 16: 15,698,887 T1042A probably damaging Het
Rasgrf2 A G 13: 91,982,738 S735P probably damaging Het
Serpina3n T A 12: 104,408,972 L101H probably damaging Het
Sipa1l2 T C 8: 125,419,239 D1674G probably damaging Het
Sval3 A G 6: 41,972,521 N98D probably benign Het
Tbc1d16 G A 11: 119,156,075 R449C possibly damaging Het
Tm7sf3 A C 6: 146,610,933 I321S possibly damaging Het
Trappc13 A G 13: 104,148,078 probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr60 A G 12: 116,225,963 probably null Het
Zscan18 T C 7: 12,775,348 probably benign Het
Other mutations in Wdr76
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Wdr76 APN 2 121535497 missense probably benign 0.11
IGL03166:Wdr76 APN 2 121534306 missense possibly damaging 0.76
IGL03242:Wdr76 APN 2 121542470 missense probably damaging 0.98
R0048:Wdr76 UTSW 2 121535419 splice site probably benign
R0048:Wdr76 UTSW 2 121535419 splice site probably benign
R0049:Wdr76 UTSW 2 121519451 missense probably damaging 1.00
R1575:Wdr76 UTSW 2 121528921 missense probably damaging 1.00
R4400:Wdr76 UTSW 2 121528833 missense probably damaging 1.00
R4825:Wdr76 UTSW 2 121542494 missense probably benign 0.25
R5622:Wdr76 UTSW 2 121517735 missense probably damaging 1.00
R5895:Wdr76 UTSW 2 121528842 missense probably damaging 1.00
R6349:Wdr76 UTSW 2 121534231 missense possibly damaging 0.45
R7229:Wdr76 UTSW 2 121528920 missense probably damaging 0.99
Posted On2014-05-07