Incidental Mutation 'IGL01013:Wdr76'
ID53438
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: 0.159) question?
Stock #IGL01013
Quality Score
Status
Chromosome2
Chromosomal Location121506723-121544860 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121535497 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 492 (S492P)
Ref Sequence ENSEMBL: ENSMUSP00000106234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028676] [ENSMUST00000099473] [ENSMUST00000110602] [ENSMUST00000110603]
Predicted Effect probably benign
Transcript: ENSMUST00000028676
AA Change: S394P

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028676
Gene: ENSMUSG00000027242
AA Change: S394P

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: ENSMUST00000099473
SMART Domains Protein: ENSMUSP00000097072
Gene: ENSMUSG00000027242

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 probably benign
Transcript: ENSMUST00000110602
AA Change: S394P

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106232
Gene: ENSMUSG00000027242
AA Change: S394P

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: ENSMUST00000110603
AA Change: S492P

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106234
Gene: ENSMUSG00000027242
AA Change: S492P

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 76,886,206 E499D possibly damaging Het
Abca1 A T 4: 53,038,185 L2059* probably null Het
Ankar T A 1: 72,650,989 I1228F possibly damaging Het
Appl1 A T 14: 26,949,476 Y340N possibly damaging Het
Atp8b4 C A 2: 126,323,087 R1103L probably benign Het
B4galt6 A G 18: 20,689,013 V308A probably damaging Het
Ccdc162 G A 10: 41,581,339 P1534L probably benign Het
Ccdc78 A G 17: 25,789,054 E313G possibly damaging Het
Cep57l1 G A 10: 41,740,869 R141* probably null Het
Cpsf1 G A 15: 76,599,297 Q883* probably null Het
Crot A G 5: 8,993,575 Y16H probably benign Het
Cyld T G 8: 88,742,362 L587R probably damaging Het
Fam114a1 G A 5: 65,031,395 probably null Het
Fam89b G T 19: 5,729,369 D53E probably benign Het
Fig4 T C 10: 41,267,786 M226V probably benign Het
Gm10722 A T 9: 3,002,230 Y184F probably damaging Het
Hp C A 8: 109,579,021 probably benign Het
Igsf9b G T 9: 27,334,304 R1189L probably damaging Het
Ilf3 A G 9: 21,399,691 N620D possibly damaging Het
Jakmip3 A C 7: 139,017,573 E228A possibly damaging Het
Kpna3 A T 14: 61,370,517 I413K probably damaging Het
Letm1 A T 5: 33,762,590 C202S possibly damaging Het
Lmod2 C A 6: 24,604,135 Q370K probably damaging Het
Map4k5 T C 12: 69,827,526 probably benign Het
Mcidas T A 13: 112,997,585 probably benign Het
Mme A G 3: 63,327,860 probably null Het
Mrc1 T C 2: 14,328,425 W1306R probably damaging Het
Mthfd1l C A 10: 4,030,716 Q473K probably damaging Het
Muc6 A T 7: 141,648,066 C719* probably null Het
Nsun7 T C 5: 66,283,601 I355T possibly damaging Het
Padi6 A G 4: 140,729,003 L560P probably damaging Het
Parl C A 16: 20,282,790 A285S possibly damaging Het
Pclo A T 5: 14,793,834 M4795L unknown Het
Polr2f A G 15: 79,146,129 Y56C probably damaging Het
Rasgrp2 A T 19: 6,404,383 H152L probably damaging Het
Rpl10l T C 12: 66,284,227 D44G probably benign Het
Slc25a16 A G 10: 62,944,433 probably null Het
Snrnp200 G A 2: 127,232,472 E1411K probably damaging Het
Tanc2 G A 11: 105,625,065 R3Q probably damaging Het
Tbc1d32 G T 10: 56,201,959 probably null Het
Tcf7l2 T C 19: 55,919,627 probably benign Het
Tnrc6c G T 11: 117,722,029 V498L probably benign Het
Tymp G A 15: 89,376,310 H102Y probably damaging Het
Zc3h12d T C 10: 7,839,956 I41T probably damaging Het
Other mutations in Wdr76
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01930:Wdr76 APN 2 121510822 missense possibly damaging 0.82
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 On2013-06-28