Incidental Mutation 'R0432:Wdr49'
ID 38812
Institutional Source Beutler Lab
Gene Symbol Wdr49
Ensembl Gene ENSMUSG00000104301
Gene Name WD repeat domain 49
Synonyms EG213248
MMRRC Submission 038634-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R0432 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 75182295-75389463 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 75357329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 285 (R285S)
Ref Sequence ENSEMBL: ENSMUSP00000144789 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000193989] [ENSMUST00000203169] [ENSMUST00000204341]
AlphaFold A0A0N4SUK7
Predicted Effect possibly damaging
Transcript: ENSMUST00000178270
AA Change: R222S

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137584
Gene: ENSMUSG00000095162
AA Change: R222S

DomainStartEndE-ValueType
WD40 73 113 3.18e1 SMART
WD40 115 161 2.74e2 SMART
WD40 249 290 7.92e1 SMART
WD40 295 333 1.99e0 SMART
WD40 337 376 3.05e-4 SMART
Blast:WD40 423 448 1e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000193989
SMART Domains Protein: ENSMUSP00000144721
Gene: ENSMUSG00000104301

DomainStartEndE-ValueType
WD40 17 55 1.3e-2 SMART
WD40 59 98 2e-6 SMART
WD40 145 184 2.5e-2 SMART
WD40 187 228 3.6e-8 SMART
WD40 281 318 8.7e-6 SMART
WD40 365 412 2.2e-1 SMART
WD40 415 455 8.4e-4 SMART
WD40 471 512 3.1e-2 SMART
Blast:SERPIN 608 673 7e-12 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000203169
AA Change: R285S

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144789
Gene: ENSMUSG00000104301
AA Change: R285S

DomainStartEndE-ValueType
WD40 136 176 2e-1 SMART
WD40 178 224 1.8e0 SMART
WD40 312 353 5.1e-1 SMART
WD40 358 396 1.3e-2 SMART
WD40 400 439 2e-6 SMART
Blast:WD40 486 511 1e-7 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000204341
AA Change: R222S

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145379
Gene: ENSMUSG00000104301
AA Change: R222S

DomainStartEndE-ValueType
WD40 73 113 3.18e1 SMART
WD40 115 161 2.74e2 SMART
WD40 249 290 7.92e1 SMART
WD40 295 333 1.99e0 SMART
WD40 337 376 3.05e-4 SMART
Blast:WD40 423 448 1e-7 BLAST
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 99% (91/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family with nine WD repeats. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik A G 17: 36,206,708 (GRCm39) L110P probably damaging Het
4930522L14Rik A T 5: 109,884,785 (GRCm39) C358S probably damaging Het
Abca8b C A 11: 109,870,841 (GRCm39) V104F possibly damaging Het
Afap1l2 T C 19: 56,905,551 (GRCm39) probably benign Het
Ahctf1 A C 1: 179,611,726 (GRCm39) I548R probably damaging Het
Alox12b G T 11: 69,060,382 (GRCm39) G646V probably damaging Het
Aoah C T 13: 21,095,368 (GRCm39) probably benign Het
Arhgap39 C T 15: 76,619,086 (GRCm39) D833N probably damaging Het
Atxn1l A G 8: 110,458,325 (GRCm39) W646R probably damaging Het
Cabp2 T C 19: 4,134,903 (GRCm39) I28T possibly damaging Het
Cacna1b G A 2: 24,577,716 (GRCm39) T719I probably damaging Het
Camk1d A T 2: 5,449,946 (GRCm39) H70Q probably damaging Het
Car1 T C 3: 14,835,236 (GRCm39) T170A probably benign Het
Ccdc162 T C 10: 41,417,856 (GRCm39) T2113A probably benign Het
Cdc5l G A 17: 45,726,610 (GRCm39) R321W probably damaging Het
Cdh17 T A 4: 11,771,273 (GRCm39) C18* probably null Het
Cdk17 A T 10: 93,073,652 (GRCm39) probably benign Het
Chd9 T A 8: 91,721,078 (GRCm39) probably benign Het
Chrm5 T A 2: 112,310,000 (GRCm39) K372M possibly damaging Het
Clasp2 A G 9: 113,738,487 (GRCm39) T423A probably benign Het
Col11a1 A G 3: 113,999,550 (GRCm39) probably benign Het
Col27a1 T C 4: 63,143,848 (GRCm39) M512T possibly damaging Het
Dclk3 A G 9: 111,314,003 (GRCm39) D693G probably damaging Het
Dcun1d3 T A 7: 119,457,173 (GRCm39) K180* probably null Het
Dmxl2 T C 9: 54,324,235 (GRCm39) R876G probably benign Het
Dnmbp A T 19: 43,843,296 (GRCm39) Y432* probably null Het
Elapor2 G T 5: 9,490,966 (GRCm39) G659* probably null Het
Eml2 C T 7: 18,913,456 (GRCm39) Q125* probably null Het
Faap100 A C 11: 120,264,702 (GRCm39) probably benign Het
Foxp2 T C 6: 15,254,278 (GRCm39) probably benign Het
Gda A G 19: 21,394,471 (GRCm39) Y129H probably damaging Het
Gga3 G A 11: 115,481,350 (GRCm39) R207C probably damaging Het
Glg1 T C 8: 111,909,201 (GRCm39) I496M probably damaging Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gm10322 A T 10: 59,452,030 (GRCm39) H49L possibly damaging Het
Golga5 G T 12: 102,442,467 (GRCm39) V269F possibly damaging Het
Gramd2b G A 18: 56,607,141 (GRCm39) C85Y probably benign Het
Grhl1 C T 12: 24,632,918 (GRCm39) P153L probably benign Het
Hdac9 T C 12: 34,487,221 (GRCm39) Q60R probably damaging Het
Hdlbp T C 1: 93,353,054 (GRCm39) I414V probably damaging Het
Itpk1 C T 12: 102,572,337 (GRCm39) probably benign Het
Itsn1 T A 16: 91,612,408 (GRCm39) Y266N probably damaging Het
Lipe G A 7: 25,097,913 (GRCm39) P10L probably benign Het
Lrrc8a A G 2: 30,147,079 (GRCm39) E631G probably damaging Het
Lvrn T A 18: 47,038,366 (GRCm39) N973K possibly damaging Het
Man2c1 T A 9: 57,042,881 (GRCm39) H250Q probably damaging Het
Mup3 T C 4: 62,003,519 (GRCm39) T117A probably benign Het
Myo6 A C 9: 80,181,256 (GRCm39) probably benign Het
Nbn T A 4: 15,983,951 (GRCm39) probably benign Het
Ncapg T A 5: 45,829,770 (GRCm39) N157K probably damaging Het
Or4p7 C T 2: 88,222,377 (GRCm39) T262I probably damaging Het
Or5an1 T A 19: 12,261,267 (GRCm39) M285K probably damaging Het
Or5m12 T A 2: 85,734,501 (GRCm39) N299I probably damaging Het
Or5w14 G A 2: 87,541,774 (GRCm39) H159Y probably benign Het
Or9m1 T C 2: 87,733,304 (GRCm39) T239A probably damaging Het
P4ha1 T A 10: 59,184,079 (GRCm39) Y180* probably null Het
Pcdhb19 T A 18: 37,632,588 (GRCm39) F794L probably benign Het
Pdxdc1 T A 16: 13,672,264 (GRCm39) I379F probably damaging Het
Psme3 T A 11: 101,211,268 (GRCm39) S185T possibly damaging Het
Ptgr1 A G 4: 58,978,045 (GRCm39) S116P probably damaging Het
Ptpn23 A T 9: 110,218,078 (GRCm39) probably null Het
Rabgap1l A C 1: 160,549,775 (GRCm39) I277R probably benign Het
Rapgef1 C T 2: 29,569,828 (GRCm39) T93I possibly damaging Het
Rbp3 A T 14: 33,676,730 (GRCm39) D226V probably damaging Het
Rnf144a A T 12: 26,389,328 (GRCm39) C38S probably damaging Het
Rptor C T 11: 119,671,379 (GRCm39) Q281* probably null Het
Rragd T C 4: 33,004,332 (GRCm39) L208S probably damaging Het
Slc12a4 T C 8: 106,686,120 (GRCm39) E41G probably damaging Het
Slc16a1 G T 3: 104,560,735 (GRCm39) V347F probably benign Het
Slit1 G A 19: 41,731,732 (GRCm39) T39I probably damaging Het
Sra1 T C 18: 36,810,556 (GRCm39) N98S probably benign Het
Ssx2ip T C 3: 146,132,184 (GRCm39) L215P probably damaging Het
Syne2 A T 12: 75,995,838 (GRCm39) H2126L probably damaging Het
Tep1 TTTCTTCTTCTT TTTCTTCTT 14: 51,104,280 (GRCm39) probably benign Het
Tgfbi T C 13: 56,780,004 (GRCm39) probably benign Het
Tmem232 T C 17: 65,563,498 (GRCm39) M632V probably damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Tnnt3 T G 7: 142,065,823 (GRCm39) D153E probably benign Het
Tnrc6b T A 15: 80,807,647 (GRCm39) probably benign Het
Tpsab1 A G 17: 25,562,798 (GRCm39) probably benign Het
Usp34 T A 11: 23,351,505 (GRCm39) V1431D probably damaging Het
Wdr7 A G 18: 63,929,320 (GRCm39) Y1052C probably damaging Het
Zan A T 5: 137,380,578 (GRCm39) probably benign Het
Zfp652 G A 11: 95,654,565 (GRCm39) V323I possibly damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging Het
Zfp82 C T 7: 29,755,754 (GRCm39) E443K probably damaging Het
Zfp874b A G 13: 67,629,955 (GRCm39) S10P probably damaging Het
Zmynd19 A G 2: 24,848,134 (GRCm39) Y110C probably benign Het
Other mutations in Wdr49
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0266:Wdr49 UTSW 3 75,359,103 (GRCm39) missense possibly damaging 0.80
R0599:Wdr49 UTSW 3 75,357,197 (GRCm39) splice site probably null
R0599:Wdr49 UTSW 3 75,338,383 (GRCm39) splice site probably null
R0948:Wdr49 UTSW 3 75,358,158 (GRCm39) missense probably benign 0.06
R1341:Wdr49 UTSW 3 75,336,640 (GRCm39) missense probably damaging 1.00
R1526:Wdr49 UTSW 3 75,304,227 (GRCm39) missense probably benign 0.03
R1593:Wdr49 UTSW 3 75,304,248 (GRCm39) missense probably benign 0.00
R1603:Wdr49 UTSW 3 75,304,177 (GRCm39) nonsense probably null
R1874:Wdr49 UTSW 3 75,336,654 (GRCm39) missense probably damaging 1.00
R2986:Wdr49 UTSW 3 75,289,347 (GRCm39) missense probably benign 0.11
R3013:Wdr49 UTSW 3 75,358,154 (GRCm39) missense probably damaging 0.96
R3025:Wdr49 UTSW 3 75,240,663 (GRCm39) missense possibly damaging 0.94
R4027:Wdr49 UTSW 3 75,230,972 (GRCm39) missense probably benign 0.05
R4029:Wdr49 UTSW 3 75,230,972 (GRCm39) missense probably benign 0.05
R4030:Wdr49 UTSW 3 75,230,972 (GRCm39) missense probably benign 0.05
R4031:Wdr49 UTSW 3 75,230,972 (GRCm39) missense probably benign 0.05
R4578:Wdr49 UTSW 3 75,242,550 (GRCm39) missense probably benign 0.00
R6024:Wdr49 UTSW 3 75,209,133 (GRCm39) missense probably benign 0.02
R6141:Wdr49 UTSW 3 75,230,989 (GRCm39) missense probably benign
R6172:Wdr49 UTSW 3 75,205,487 (GRCm39) missense probably damaging 1.00
R6263:Wdr49 UTSW 3 75,388,824 (GRCm39) missense possibly damaging 0.84
R6501:Wdr49 UTSW 3 75,246,765 (GRCm39) missense probably benign 0.01
R6584:Wdr49 UTSW 3 75,245,065 (GRCm39) missense probably benign 0.01
R6698:Wdr49 UTSW 3 75,336,673 (GRCm39) missense probably benign 0.01
R6891:Wdr49 UTSW 3 75,240,590 (GRCm39) splice site probably null
R7202:Wdr49 UTSW 3 75,240,580 (GRCm39) missense probably benign 0.11
R7214:Wdr49 UTSW 3 75,265,751 (GRCm39) missense possibly damaging 0.63
R7572:Wdr49 UTSW 3 75,265,744 (GRCm39) missense possibly damaging 0.94
R7575:Wdr49 UTSW 3 75,358,193 (GRCm39) missense probably damaging 0.96
R7673:Wdr49 UTSW 3 75,358,214 (GRCm39) missense probably damaging 1.00
R7790:Wdr49 UTSW 3 75,182,335 (GRCm39) missense probably benign 0.16
R7958:Wdr49 UTSW 3 75,338,454 (GRCm39) missense probably benign 0.08
R8444:Wdr49 UTSW 3 75,358,997 (GRCm39) missense probably benign 0.00
R9183:Wdr49 UTSW 3 75,205,419 (GRCm39) missense probably benign 0.08
R9213:Wdr49 UTSW 3 75,205,419 (GRCm39) missense probably benign 0.08
R9374:Wdr49 UTSW 3 75,230,931 (GRCm39) missense probably benign
R9492:Wdr49 UTSW 3 75,240,669 (GRCm39) missense probably damaging 1.00
R9552:Wdr49 UTSW 3 75,230,931 (GRCm39) missense probably benign
R9595:Wdr49 UTSW 3 75,265,747 (GRCm39) missense probably damaging 1.00
R9655:Wdr49 UTSW 3 75,240,561 (GRCm39) missense probably damaging 1.00
R9717:Wdr49 UTSW 3 75,304,359 (GRCm39) missense probably benign 0.17
Z1176:Wdr49 UTSW 3 75,358,840 (GRCm39) missense probably damaging 1.00
Z1177:Wdr49 UTSW 3 75,357,210 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTATTCAAACCCAGTACCTTGCCG -3'
(R):5'- GCCAGACACTGAAGAGGCTTGAAC -3'

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