Incidental Mutation 'R6175:Wdr24'
ID 487725
Institutional Source Beutler Lab
Gene Symbol Wdr24
Ensembl Gene ENSMUSG00000025737
Gene Name WD repeat domain 24
Synonyms
MMRRC Submission 044317-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6175 (G1)
Quality Score 99.0078
Status Validated
Chromosome 17
Chromosomal Location 26042601-26047704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26045552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 429 (L429P)
Ref Sequence ENSEMBL: ENSMUSP00000026833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026832] [ENSMUST00000026833] [ENSMUST00000044911] [ENSMUST00000123582] [ENSMUST00000133595]
AlphaFold Q8CFJ9
Predicted Effect probably benign
Transcript: ENSMUST00000026832
SMART Domains Protein: ENSMUSP00000026832
Gene: ENSMUSG00000025736

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
JmjC 140 271 5.27e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000026833
AA Change: L429P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737
AA Change: L429P

DomainStartEndE-ValueType
Blast:WD40 19 53 6e-8 BLAST
WD40 68 103 2.13e1 SMART
WD40 109 149 5.77e-5 SMART
WD40 152 192 4.48e-2 SMART
WD40 196 236 1.48e-11 SMART
WD40 244 282 1.66e0 SMART
WD40 286 327 2.48e0 SMART
low complexity region 605 623 N/A INTRINSIC
Blast:RING 743 780 2e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000044911
SMART Domains Protein: ENSMUSP00000040431
Gene: ENSMUSG00000039615

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
TPR 27 60 2.43e1 SMART
TPR 61 94 1.48e-7 SMART
TPR 95 128 4.52e-3 SMART
low complexity region 168 180 N/A INTRINSIC
Ubox 231 294 1.27e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123560
Predicted Effect probably benign
Transcript: ENSMUST00000123582
SMART Domains Protein: ENSMUSP00000119840
Gene: ENSMUSG00000025736

DomainStartEndE-ValueType
low complexity region 158 172 N/A INTRINSIC
low complexity region 194 208 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175335
Predicted Effect probably benign
Transcript: ENSMUST00000152434
SMART Domains Protein: ENSMUSP00000119378
Gene: ENSMUSG00000025736

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133595
SMART Domains Protein: ENSMUSP00000122744
Gene: ENSMUSG00000025736

DomainStartEndE-ValueType
transmembrane domain 55 74 N/A INTRINSIC
JmjC 185 316 5.27e-2 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 97% (85/88)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,902,448 (GRCm39) K623E probably damaging Het
A530064D06Rik T A 17: 48,460,016 (GRCm39) S227C possibly damaging Het
Adam30 A T 3: 98,070,266 (GRCm39) I700F probably damaging Het
Adam5 A T 8: 25,276,167 (GRCm39) M500K probably benign Het
Adgb A T 10: 10,274,687 (GRCm39) S755T possibly damaging Het
Adgrv1 C T 13: 81,534,124 (GRCm39) G5819D probably damaging Het
Ank3 T A 10: 69,763,557 (GRCm39) Y17N probably damaging Het
Ano2 A T 6: 125,969,918 (GRCm39) M745L probably benign Het
Arap2 A G 5: 62,872,074 (GRCm39) probably null Het
Atg2a A T 19: 6,291,759 (GRCm39) probably benign Het
AU021092 G T 16: 5,038,312 (GRCm39) probably null Het
Bbs1 A T 19: 4,940,749 (GRCm39) L578Q probably damaging Het
Brd9 A T 13: 74,108,433 (GRCm39) E589D probably damaging Het
Calr4 A G 4: 109,101,442 (GRCm39) D108G probably benign Het
Ccdc82 A G 9: 13,272,798 (GRCm39) D429G probably damaging Het
Cdh22 G T 2: 164,988,550 (GRCm39) N268K probably damaging Het
Ceacam12 G A 7: 17,801,312 (GRCm39) G97D probably damaging Het
Clcn1 A G 6: 42,291,096 (GRCm39) D990G probably damaging Het
Cyp2c40 T C 19: 39,801,004 (GRCm39) T84A probably benign Het
Dnah7a G A 1: 53,472,181 (GRCm39) P3529S probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Efna3 GAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGC 3: 89,230,105 (GRCm39) probably benign Het
Ehd2 G A 7: 15,697,389 (GRCm39) Q4* probably null Het
Eml5 A G 12: 98,760,715 (GRCm39) V1726A possibly damaging Het
Esam A G 9: 37,439,544 (GRCm39) T10A probably benign Het
Fbxl6 A G 15: 76,422,633 (GRCm39) L95P probably benign Het
Fbxw18 T A 9: 109,505,947 (GRCm39) L441F probably damaging Het
Fbxw4 A G 19: 45,624,766 (GRCm39) S73P probably benign Het
Fndc1 T A 17: 7,991,479 (GRCm39) H739L unknown Het
Foxp1 G A 6: 98,943,037 (GRCm39) T237I probably damaging Het
Greb1 A T 12: 16,724,771 (GRCm39) I1801N probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hoxa13 G T 6: 52,236,908 (GRCm39) N281K probably damaging Het
Hspg2 A G 4: 137,296,829 (GRCm39) T4328A probably damaging Het
Htr2a C G 14: 74,882,474 (GRCm39) Y153* probably null Het
Iglv1 C A 16: 18,903,844 (GRCm39) A92S probably damaging Het
Itih1 A G 14: 30,653,152 (GRCm39) S759P probably damaging Het
Kctd1 G T 18: 15,102,688 (GRCm39) S831* probably null Het
Kif20a T A 18: 34,761,199 (GRCm39) S265T probably damaging Het
Kif22 T A 7: 126,630,228 (GRCm39) E436V possibly damaging Het
Kif27 A G 13: 58,459,051 (GRCm39) W927R probably damaging Het
Lcorl G A 5: 45,933,832 (GRCm39) P66L probably damaging Het
Lct A G 1: 128,255,451 (GRCm39) L197P probably damaging Het
Lefty1 T C 1: 180,762,714 (GRCm39) S14P unknown Het
Lnp1 A G 16: 56,737,855 (GRCm39) S78P possibly damaging Het
Map3k19 A T 1: 127,750,569 (GRCm39) H927Q probably benign Het
Meiosin C A 7: 18,834,814 (GRCm39) probably benign Het
Mta3 A G 17: 84,099,222 (GRCm39) T430A probably benign Het
Muc2 G T 7: 141,282,875 (GRCm39) C627F probably damaging Het
Myh13 A G 11: 67,245,588 (GRCm39) D1076G probably benign Het
Nck2 T A 1: 43,572,729 (GRCm39) M1K probably null Het
Nipal1 A G 5: 72,820,898 (GRCm39) N131S probably damaging Het
Nlrp9c T C 7: 26,077,426 (GRCm39) probably null Het
Nr2f2 A G 7: 70,007,946 (GRCm39) S179P probably damaging Het
Or1j16 A G 2: 36,530,063 (GRCm39) D4G probably benign Het
Or1j21 A T 2: 36,683,980 (GRCm39) H244L probably damaging Het
Or9g19 A T 2: 85,600,652 (GRCm39) N169I probably benign Het
Oxt G T 2: 130,418,163 (GRCm39) probably benign Het
Pank2 T A 2: 131,122,181 (GRCm39) Y235* probably null Het
Pear1 A G 3: 87,659,440 (GRCm39) L798P possibly damaging Het
Pex14 T C 4: 149,046,156 (GRCm39) H258R probably benign Het
Pmpcb A G 5: 21,962,031 (GRCm39) I487V probably benign Het
Ppie T C 4: 123,031,362 (GRCm39) E44G probably benign Het
Ppp1r9a A T 6: 4,905,639 (GRCm39) R65* probably null Het
Ralgapb T C 2: 158,288,075 (GRCm39) S371P probably damaging Het
Ros1 T C 10: 51,977,881 (GRCm39) H1455R probably benign Het
Sacs C A 14: 61,450,275 (GRCm39) T4107K possibly damaging Het
Sec24a G A 11: 51,622,718 (GRCm39) T386M probably damaging Het
Slc10a4 A T 5: 73,169,593 (GRCm39) Y207F possibly damaging Het
Slc30a10 T C 1: 185,187,508 (GRCm39) L83P probably damaging Het
Slc38a9 T A 13: 112,840,093 (GRCm39) L324* probably null Het
Slc7a9 A T 7: 35,165,277 (GRCm39) Q474L probably damaging Het
Smc5 C A 19: 23,191,534 (GRCm39) V875L possibly damaging Het
Snap91 T C 9: 86,707,053 (GRCm39) R246G probably damaging Het
Sned1 A G 1: 93,203,196 (GRCm39) probably null Het
Spink14 G A 18: 44,164,938 (GRCm39) G85E probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
St13 A G 15: 81,283,506 (GRCm39) probably null Het
Stk10 A G 11: 32,553,761 (GRCm39) M593V possibly damaging Het
Tafa1 A G 6: 96,092,721 (GRCm39) H35R probably benign Het
Tex21 C A 12: 76,245,707 (GRCm39) A530S probably benign Het
Tln2 T A 9: 67,131,363 (GRCm39) K1394N probably damaging Het
Trhr2 C A 8: 123,084,118 (GRCm39) R294L probably damaging Het
Unc79 A T 12: 103,149,708 (GRCm39) I2408F probably damaging Het
Wwp2 T A 8: 108,210,039 (GRCm39) I139N possibly damaging Het
Zfp111 G A 7: 23,897,554 (GRCm39) R686C unknown Het
Zfp268 A T 4: 145,350,811 (GRCm39) probably benign Het
Zyg11a A G 4: 108,046,878 (GRCm39) V532A probably benign Het
Other mutations in Wdr24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:Wdr24 APN 17 26,045,595 (GRCm39) missense probably benign 0.20
IGL01700:Wdr24 APN 17 26,044,802 (GRCm39) missense probably damaging 1.00
IGL01763:Wdr24 APN 17 26,045,164 (GRCm39) missense probably benign 0.20
IGL02567:Wdr24 APN 17 26,043,322 (GRCm39) missense probably damaging 0.99
IGL03100:Wdr24 APN 17 26,044,681 (GRCm39) missense possibly damaging 0.47
R0012:Wdr24 UTSW 17 26,046,087 (GRCm39) missense probably benign
R0799:Wdr24 UTSW 17 26,045,102 (GRCm39) missense probably damaging 1.00
R1015:Wdr24 UTSW 17 26,047,212 (GRCm39) missense probably benign 0.12
R1276:Wdr24 UTSW 17 26,046,441 (GRCm39) missense probably benign 0.02
R1297:Wdr24 UTSW 17 26,046,322 (GRCm39) missense possibly damaging 0.90
R1934:Wdr24 UTSW 17 26,043,240 (GRCm39) missense possibly damaging 0.89
R2030:Wdr24 UTSW 17 26,045,017 (GRCm39) missense probably benign 0.38
R2069:Wdr24 UTSW 17 26,045,256 (GRCm39) missense probably damaging 1.00
R2508:Wdr24 UTSW 17 26,043,273 (GRCm39) missense possibly damaging 0.52
R4601:Wdr24 UTSW 17 26,047,181 (GRCm39) splice site probably null
R4604:Wdr24 UTSW 17 26,047,479 (GRCm39) missense probably damaging 1.00
R4894:Wdr24 UTSW 17 26,045,101 (GRCm39) missense probably damaging 1.00
R5068:Wdr24 UTSW 17 26,044,753 (GRCm39) missense possibly damaging 0.77
R5088:Wdr24 UTSW 17 26,047,181 (GRCm39) splice site probably null
R5104:Wdr24 UTSW 17 26,043,565 (GRCm39) missense probably damaging 1.00
R5498:Wdr24 UTSW 17 26,043,535 (GRCm39) missense probably damaging 1.00
R5719:Wdr24 UTSW 17 26,047,314 (GRCm39) critical splice donor site probably null
R5892:Wdr24 UTSW 17 26,046,960 (GRCm39) missense probably benign 0.00
R5975:Wdr24 UTSW 17 26,046,102 (GRCm39) missense probably benign 0.37
R6084:Wdr24 UTSW 17 26,043,504 (GRCm39) missense probably damaging 0.99
R6106:Wdr24 UTSW 17 26,043,579 (GRCm39) missense probably benign
R6114:Wdr24 UTSW 17 26,043,579 (GRCm39) missense probably benign
R6116:Wdr24 UTSW 17 26,043,579 (GRCm39) missense probably benign
R6165:Wdr24 UTSW 17 26,045,395 (GRCm39) missense probably benign 0.18
R6331:Wdr24 UTSW 17 26,044,650 (GRCm39) missense possibly damaging 0.61
R6548:Wdr24 UTSW 17 26,046,899 (GRCm39) missense probably damaging 0.99
R6984:Wdr24 UTSW 17 26,047,209 (GRCm39) missense possibly damaging 0.93
R7485:Wdr24 UTSW 17 26,045,101 (GRCm39) missense probably damaging 1.00
R7583:Wdr24 UTSW 17 26,044,804 (GRCm39) missense probably null 1.00
R7770:Wdr24 UTSW 17 26,046,070 (GRCm39) missense probably benign 0.04
R8086:Wdr24 UTSW 17 26,045,101 (GRCm39) missense probably damaging 1.00
R8164:Wdr24 UTSW 17 26,044,923 (GRCm39) splice site probably null
R9210:Wdr24 UTSW 17 26,043,472 (GRCm39) missense probably benign 0.00
R9212:Wdr24 UTSW 17 26,043,472 (GRCm39) missense probably benign 0.00
R9567:Wdr24 UTSW 17 26,043,190 (GRCm39) missense probably damaging 0.98
R9667:Wdr24 UTSW 17 26,046,301 (GRCm39) missense possibly damaging 0.55
X0022:Wdr24 UTSW 17 26,043,246 (GRCm39) missense probably damaging 0.99
Z1177:Wdr24 UTSW 17 26,044,661 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- CTGTTAAGGAAAGCCTGGTGG -3'
(R):5'- GGCTAGTCTGGTTCCCATGATC -3'

Sequencing Primer
(F):5'- ACGTAAACCCTATGCTGGTG -3'
(R):5'- CCCATGATCTTTACACTGTCAAATAC -3'
Posted On 2017-10-10