Incidental Mutation 'R6891:Wdr49'
ID 537196
Institutional Source Beutler Lab
Gene Symbol Wdr49
Ensembl Gene ENSMUSG00000104301
Gene Name WD repeat domain 49
Synonyms EG213248
MMRRC Submission 044985-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R6891 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 75182295-75389463 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 75240590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000193989]
AlphaFold A0A0N4SUK7
Predicted Effect probably null
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 97% (72/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 C T 9: 107,806,346 (GRCm39) A223V probably benign Het
Agbl5 G T 5: 31,052,522 (GRCm39) R61L probably damaging Het
Agmat A T 4: 141,483,192 (GRCm39) T209S probably benign Het
Ankrd34a G A 3: 96,505,335 (GRCm39) V180I probably benign Het
Anks1 C T 17: 28,276,398 (GRCm39) T1047M probably damaging Het
Arhgap21 T A 2: 20,855,142 (GRCm39) I1407F probably damaging Het
Armc1 C A 3: 19,189,205 (GRCm39) C183F probably damaging Het
Atg13 A G 2: 91,516,136 (GRCm39) M196T probably benign Het
AU040320 G T 4: 126,740,231 (GRCm39) S864I possibly damaging Het
Btn2a2 T C 13: 23,667,014 (GRCm39) D197G probably benign Het
Carmil1 A G 13: 24,325,706 (GRCm39) I208T probably benign Het
Cbs T A 17: 31,841,431 (GRCm39) R263S probably damaging Het
Ccdc7a C A 8: 129,753,119 (GRCm39) R204L probably damaging Het
Cdhr1 A T 14: 36,819,334 (GRCm39) probably null Het
Cers4 G A 8: 4,573,731 (GRCm39) R378Q probably damaging Het
Chst1 T G 2: 92,444,088 (GRCm39) L187V probably benign Het
Clec4e A T 6: 123,260,565 (GRCm39) N164K probably damaging Het
Cln3 T A 7: 126,181,975 (GRCm39) D29V possibly damaging Het
Crybg2 A G 4: 133,809,148 (GRCm39) S187G probably benign Het
Ddx1 A T 12: 13,286,096 (GRCm39) N285K probably benign Het
Dmxl2 A G 9: 54,387,664 (GRCm39) I58T probably damaging Het
Dock4 A G 12: 40,829,135 (GRCm39) Y1007C probably damaging Het
Eral1 C T 11: 77,966,559 (GRCm39) V234I possibly damaging Het
Fads2b C A 2: 85,319,149 (GRCm39) M384I possibly damaging Het
Fads2b T G 2: 85,319,157 (GRCm39) T382P probably damaging Het
Fam161b A G 12: 84,401,554 (GRCm39) F400S probably damaging Het
Fmnl3 T C 15: 99,223,754 (GRCm39) D314G probably damaging Het
Foxred2 A T 15: 77,839,909 (GRCm39) L127Q probably damaging Het
Gjd2 G A 2: 113,843,575 (GRCm39) A14V possibly damaging Het
Gon4l A G 3: 88,766,173 (GRCm39) probably null Het
Gpr151 T A 18: 42,711,985 (GRCm39) D231V probably benign Het
Gzf1 A T 2: 148,526,689 (GRCm39) K387* probably null Het
Hfm1 T A 5: 107,065,240 (GRCm39) K146N possibly damaging Het
Hgf G A 5: 16,809,920 (GRCm39) probably null Het
Isoc2b A G 7: 4,854,487 (GRCm39) S15P probably damaging Het
Itga5 A G 15: 103,265,970 (GRCm39) S126P probably damaging Het
Kat6b A G 14: 21,719,104 (GRCm39) D1152G probably benign Het
Kcna4 C T 2: 107,126,652 (GRCm39) S462F probably damaging Het
Kif24 A T 4: 41,394,168 (GRCm39) C902S probably benign Het
Lama2 A T 10: 27,204,068 (GRCm39) C523* probably null Het
Lama2 G C 10: 27,204,078 (GRCm39) S520* probably null Het
Ltf T C 9: 110,854,181 (GRCm39) V332A probably benign Het
Mapkap1 T C 2: 34,453,153 (GRCm39) F349L probably damaging Het
Mdm1 A G 10: 117,983,937 (GRCm39) N188D probably benign Het
Mfn1 T C 3: 32,631,252 (GRCm39) S730P possibly damaging Het
Mrgprd T A 7: 144,876,087 (GRCm39) D319E probably benign Het
Mrps9 C A 1: 42,944,573 (GRCm39) L364I probably damaging Het
Myo1h C T 5: 114,487,673 (GRCm39) R626C probably damaging Het
Nme3 T C 17: 25,115,829 (GRCm39) S61P probably benign Het
Or2g1 A G 17: 38,106,395 (GRCm39) Q20R probably benign Het
Or52e18 A G 7: 104,609,192 (GRCm39) I249T probably damaging Het
Pald1 A G 10: 61,184,311 (GRCm39) probably null Het
Papola A T 12: 105,775,950 (GRCm39) probably benign Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Plch1 T C 3: 63,605,504 (GRCm39) T1458A probably benign Het
Polr3e A G 7: 120,543,873 (GRCm39) Q659R probably damaging Het
Pramel38 C A 5: 94,365,978 (GRCm39) P32Q probably damaging Het
Shoc2 T C 19: 53,976,548 (GRCm39) V146A probably benign Het
Slc15a1 T C 14: 121,713,442 (GRCm39) T362A probably benign Het
Smpd3 A G 8: 106,991,300 (GRCm39) Y418H probably damaging Het
Sorcs1 A T 19: 50,213,557 (GRCm39) C723* probably null Het
Supt7l T A 5: 31,680,365 (GRCm39) N16Y probably damaging Het
Syngr2 T C 11: 117,703,499 (GRCm39) V105A probably damaging Het
Thrb T A 14: 17,981,899 (GRCm38) V8E probably benign Het
Tlx1 A T 19: 45,139,757 (GRCm39) I135F probably damaging Het
Tnfaip3 A G 10: 18,887,417 (GRCm39) I36T probably damaging Het
Troap A G 15: 98,980,569 (GRCm39) Y583C possibly damaging Het
Usp17lb T C 7: 104,490,307 (GRCm39) K207E probably benign Het
Vmn2r10 C T 5: 109,149,845 (GRCm39) V400M probably damaging Het
Wdr64 G T 1: 175,533,634 (GRCm39) W90L probably damaging Het
Yme1l1 A G 2: 23,085,401 (GRCm39) E662G probably damaging Het
Zfp334 C T 2: 165,224,644 (GRCm39) V68I probably benign Het
Other mutations in Wdr49
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0266:Wdr49 UTSW 3 75,359,103 (GRCm39) missense possibly damaging 0.80
R0432:Wdr49 UTSW 3 75,357,329 (GRCm39) missense possibly damaging 0.70
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
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'- GTGACTCACATCACTAGCTACC -3'
(R):5'- GGTCAGGAAAGATTTCAGTGC -3'

Sequencing Primer
(F):5'- CTAGTGATGGTACTGTGAGAAT -3'
(R):5'- GTCAGGAAAGATTTCAGTGCTATTG -3'
Posted On 2018-10-18