Incidental Mutation 'R7834:Wdr38'
ID 605831
Institutional Source Beutler Lab
Gene Symbol Wdr38
Ensembl Gene ENSMUSG00000035295
Gene Name WD repeat domain 38
Synonyms 1700123D08Rik
MMRRC Submission 045888-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R7834 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 38888287-38891600 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38890196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 110 (Q110L)
Ref Sequence ENSEMBL: ENSMUSP00000108493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039535] [ENSMUST00000080861] [ENSMUST00000112872]
AlphaFold Q9D994
Predicted Effect possibly damaging
Transcript: ENSMUST00000039535
AA Change: Q110L

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043834
Gene: ENSMUSG00000035295
AA Change: Q110L

DomainStartEndE-ValueType
WD40 15 54 9.67e-7 SMART
WD40 57 96 9.22e-13 SMART
WD40 99 138 4.4e-10 SMART
WD40 141 180 1.21e-7 SMART
WD40 186 224 9.97e-9 SMART
WD40 227 266 4.34e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080861
SMART Domains Protein: ENSMUSP00000079672
Gene: ENSMUSG00000062997

DomainStartEndE-ValueType
Pfam:Ribosomal_L29 7 63 2.7e-22 PFAM
low complexity region 95 108 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112872
AA Change: Q110L

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108493
Gene: ENSMUSG00000035295
AA Change: Q110L

DomainStartEndE-ValueType
WD40 15 54 9.67e-7 SMART
WD40 57 96 9.22e-13 SMART
WD40 99 138 4.4e-10 SMART
WD40 141 180 1.21e-7 SMART
WD40 186 224 9.97e-9 SMART
WD40 227 266 4.34e-9 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,115,068 (GRCm39) I626N probably damaging Het
Abcc12 T A 8: 87,258,179 (GRCm39) Y779F possibly damaging Het
Abcc12 C T 8: 87,284,859 (GRCm39) C252Y probably damaging Het
Adam22 A T 5: 8,180,535 (GRCm39) C521S probably damaging Het
Adcy5 C A 16: 34,977,570 (GRCm39) H368N probably benign Het
Akap13 T A 7: 75,392,390 (GRCm39) I2411N possibly damaging Het
Ankrd12 A G 17: 66,294,347 (GRCm39) F339S probably damaging Het
Bmp1 T A 14: 70,746,005 (GRCm39) R153W probably damaging Het
Bmp6 T C 13: 38,653,643 (GRCm39) F237L probably damaging Het
Cacna1c A G 6: 118,587,542 (GRCm39) S1628P Het
Ccdc141 T C 2: 76,889,889 (GRCm39) R468G possibly damaging Het
Cdc40 A T 10: 40,758,945 (GRCm39) S43T probably benign Het
Celf4 A G 18: 25,886,542 (GRCm39) M48T probably benign Het
Clec4g A T 8: 3,766,500 (GRCm39) M267K probably damaging Het
Col6a1 G T 10: 76,545,762 (GRCm39) S903R unknown Het
Creg2 A G 1: 39,689,802 (GRCm39) F103L probably damaging Het
Cul9 T C 17: 46,836,630 (GRCm39) probably null Het
Dchs1 G A 7: 105,414,774 (GRCm39) A756V probably benign Het
Diaph1 G A 18: 37,986,762 (GRCm39) probably benign Het
Dmxl1 G A 18: 50,054,044 (GRCm39) G2550D probably damaging Het
Dst G T 1: 34,233,186 (GRCm39) R3396I probably benign Het
Dync2h1 T C 9: 7,118,953 (GRCm39) T2171A probably benign Het
Fgd2 C T 17: 29,583,925 (GRCm39) T113M probably damaging Het
Galnt6 G T 15: 100,611,984 (GRCm39) S219R probably damaging Het
Gbp6 T A 5: 105,421,131 (GRCm39) E558V probably benign Het
Gnas A T 2: 174,140,783 (GRCm39) K377* probably null Het
Hars2 T C 18: 36,922,634 (GRCm39) I389T probably damaging Het
Hsp90ab1 T C 17: 45,882,091 (GRCm39) I123V possibly damaging Het
Igkv6-14 A T 6: 70,411,992 (GRCm39) N97K possibly damaging Het
Isg20 T C 7: 78,569,867 (GRCm39) L168P probably damaging Het
Kcna1 C T 6: 126,619,703 (GRCm39) D206N probably benign Het
Kcnn3 A G 3: 89,428,661 (GRCm39) I296V probably damaging Het
Kif18a G A 2: 109,127,119 (GRCm39) R351H probably damaging Het
Klra5 A T 6: 129,876,253 (GRCm39) probably null Het
Krt9 T C 11: 100,083,492 (GRCm39) T180A probably benign Het
Lhx8 T C 3: 154,017,174 (GRCm39) S323G probably null Het
Lpcat2 T A 8: 93,644,729 (GRCm39) L506H possibly damaging Het
Map2 A G 1: 66,455,647 (GRCm39) E1447G probably damaging Het
Mapk8ip2 A T 15: 89,345,576 (GRCm39) I779F probably damaging Het
Mcmdc2 G A 1: 9,982,399 (GRCm39) probably null Het
Mrps15 G A 4: 125,949,182 (GRCm39) E217K probably damaging Het
Muc5b G A 7: 141,412,807 (GRCm39) G1918R unknown Het
Mug2 T C 6: 122,013,241 (GRCm39) I336T probably benign Het
Myh10 T C 11: 68,676,652 (GRCm39) V878A probably damaging Het
Nomo1 T C 7: 45,706,162 (GRCm39) probably null Het
Ogdhl T A 14: 32,062,666 (GRCm39) I584N probably benign Het
Pdzrn3 G A 6: 101,128,156 (GRCm39) R837C probably damaging Het
Pkhd1 A G 1: 20,382,273 (GRCm39) M2626T probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Pml C A 9: 58,141,968 (GRCm39) R288L probably benign Het
Pnliprp2 T C 19: 58,762,591 (GRCm39) S399P probably benign Het
Prelp T C 1: 133,842,510 (GRCm39) T212A probably damaging Het
Ptpn13 T A 5: 103,610,014 (GRCm39) S4T probably damaging Het
Ptprb A C 10: 116,175,329 (GRCm39) E821A probably benign Het
Rabgap1 T C 2: 37,359,419 (GRCm39) probably benign Het
Reln C T 5: 22,244,633 (GRCm39) V782M possibly damaging Het
Rpl3l T C 17: 24,952,437 (GRCm39) V52A possibly damaging Het
Rrp1b T C 17: 32,270,698 (GRCm39) V219A probably benign Het
Rtn1 T A 12: 72,350,806 (GRCm39) I468F probably damaging Het
Safb T A 17: 56,900,881 (GRCm39) M129K unknown Het
Sall1 C A 8: 89,760,002 (GRCm39) S34I probably benign Het
Slc2a8 C T 2: 32,866,919 (GRCm39) G227D probably damaging Het
Slco4a1 G T 2: 180,107,470 (GRCm39) V295L probably benign Het
Slfn5 A T 11: 82,851,278 (GRCm39) Q525L possibly damaging Het
Speg C T 1: 75,361,571 (GRCm39) T195M probably damaging Het
Syne2 A T 12: 76,014,021 (GRCm39) T3071S probably benign Het
Syngr1 G T 15: 79,995,818 (GRCm39) W119L probably damaging Het
Tenm2 A G 11: 35,915,681 (GRCm39) L1951P probably damaging Het
Ulk4 C T 9: 121,092,734 (GRCm39) E168K possibly damaging Het
Ush2a G A 1: 188,465,637 (GRCm39) W2735* probably null Het
Usp17lb T A 7: 104,490,718 (GRCm39) T70S probably damaging Het
Vmn2r6 T G 3: 64,445,443 (GRCm39) N761H probably damaging Het
Vps13d A T 4: 144,835,143 (GRCm39) I2741K Het
Zfp872 A G 9: 22,111,406 (GRCm39) K295R probably damaging Het
Other mutations in Wdr38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Wdr38 APN 2 38,890,730 (GRCm39) missense probably damaging 1.00
IGL02019:Wdr38 APN 2 38,888,424 (GRCm39) missense probably damaging 0.97
IGL02020:Wdr38 APN 2 38,888,424 (GRCm39) missense probably damaging 0.97
IGL02137:Wdr38 APN 2 38,888,424 (GRCm39) missense probably damaging 0.97
IGL02138:Wdr38 APN 2 38,888,424 (GRCm39) missense probably damaging 0.97
IGL02172:Wdr38 APN 2 38,888,424 (GRCm39) missense probably damaging 0.97
IGL02178:Wdr38 APN 2 38,888,424 (GRCm39) missense probably damaging 0.97
IGL02422:Wdr38 APN 2 38,888,424 (GRCm39) missense probably damaging 0.97
IGL02423:Wdr38 APN 2 38,888,424 (GRCm39) missense probably damaging 0.97
IGL02525:Wdr38 APN 2 38,888,424 (GRCm39) missense probably damaging 0.97
IGL02526:Wdr38 APN 2 38,888,424 (GRCm39) missense probably damaging 0.97
IGL02621:Wdr38 APN 2 38,888,424 (GRCm39) missense probably damaging 0.97
IGL02623:Wdr38 APN 2 38,888,424 (GRCm39) missense probably damaging 0.97
IGL02624:Wdr38 APN 2 38,888,424 (GRCm39) missense probably damaging 0.97
IGL02625:Wdr38 APN 2 38,888,424 (GRCm39) missense probably damaging 0.97
PIT4696001:Wdr38 UTSW 2 38,889,984 (GRCm39) critical splice acceptor site probably null
R1473:Wdr38 UTSW 2 38,890,991 (GRCm39) missense probably benign 0.03
R1794:Wdr38 UTSW 2 38,890,741 (GRCm39) missense probably damaging 1.00
R3964:Wdr38 UTSW 2 38,889,362 (GRCm39) missense probably damaging 1.00
R6005:Wdr38 UTSW 2 38,891,333 (GRCm39) missense possibly damaging 0.57
R6432:Wdr38 UTSW 2 38,890,723 (GRCm39) missense probably damaging 1.00
R6513:Wdr38 UTSW 2 38,889,970 (GRCm39) splice site probably null
R7266:Wdr38 UTSW 2 38,890,276 (GRCm39) missense probably damaging 1.00
R7454:Wdr38 UTSW 2 38,888,352 (GRCm39) start gained probably benign
R8333:Wdr38 UTSW 2 38,889,361 (GRCm39) missense probably damaging 1.00
R9542:Wdr38 UTSW 2 38,890,210 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCAGGCCCAGTGAAGTCTTG -3'
(R):5'- CTGGAACCTGCATCTGATTGG -3'

Sequencing Primer
(F):5'- GCCCAGTGAAGTCTTGCTGTTTC -3'
(R):5'- AACCTGCATCTGATTGGGTGTG -3'
Posted On 2019-12-20