Incidental Mutation 'R0165:Wdhd1'
ID 24125
Institutional Source Beutler Lab
Gene Symbol Wdhd1
Ensembl Gene ENSMUSG00000037572
Gene Name WD repeat and HMG-box DNA binding protein 1
Synonyms AND-1, D630024B06Rik
MMRRC Submission 038441-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0165 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 14
Chromosomal Location 47478401-47514314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47504525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 350 (S350P)
Ref Sequence ENSEMBL: ENSMUSP00000141182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111790] [ENSMUST00000111791] [ENSMUST00000111792] [ENSMUST00000187531]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000111790
AA Change: S350P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107420
Gene: ENSMUSG00000037572
AA Change: S350P

DomainStartEndE-ValueType
WD40 4 41 8.62e-4 SMART
WD40 83 122 8.91e-1 SMART
WD40 125 164 1.67e-10 SMART
WD40 217 258 6.19e-1 SMART
WD40 261 301 5.11e1 SMART
low complexity region 353 363 N/A INTRINSIC
Pfam:DUF3639 525 551 2.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111791
AA Change: S350P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107421
Gene: ENSMUSG00000037572
AA Change: S350P

DomainStartEndE-ValueType
WD40 4 41 8.62e-4 SMART
WD40 83 122 8.91e-1 SMART
WD40 125 164 1.67e-10 SMART
WD40 217 258 6.19e-1 SMART
WD40 261 301 5.11e1 SMART
low complexity region 353 363 N/A INTRINSIC
Pfam:Mcl1_mid 424 708 1.6e-103 PFAM
coiled coil region 802 834 N/A INTRINSIC
HMG 1003 1073 2.64e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111792
SMART Domains Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572

DomainStartEndE-ValueType
WD40 4 41 8.62e-4 SMART
WD40 83 122 8.91e-1 SMART
WD40 125 164 1.67e-10 SMART
WD40 217 258 6.19e-1 SMART
WD40 261 301 5.11e1 SMART
low complexity region 316 326 N/A INTRINSIC
Pfam:DUF3639 488 514 7.1e-13 PFAM
coiled coil region 765 797 N/A INTRINSIC
HMG 966 1036 2.64e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122699
Predicted Effect probably benign
Transcript: ENSMUST00000187531
AA Change: S350P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: S350P

DomainStartEndE-ValueType
WD40 4 41 8.62e-4 SMART
WD40 83 122 8.91e-1 SMART
WD40 125 164 1.67e-10 SMART
WD40 217 258 6.19e-1 SMART
WD40 261 301 5.11e1 SMART
low complexity region 353 363 N/A INTRINSIC
Pfam:DUF3639 525 551 3e-13 PFAM
coiled coil region 802 834 N/A INTRINSIC
HMG 1003 1073 2.64e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228742
Meta Mutation Damage Score 0.0670 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.2%
  • 20x: 91.4%
Validation Efficiency 96% (81/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,213,924 (GRCm39) I717T possibly damaging Het
6430571L13Rik A G 9: 107,223,383 (GRCm39) probably benign Het
Abca15 T A 7: 119,950,126 (GRCm39) probably benign Het
Abca6 A G 11: 110,110,430 (GRCm39) V573A possibly damaging Het
Adgrl2 A G 3: 148,558,499 (GRCm39) probably benign Het
Agap3 A G 5: 24,684,743 (GRCm39) T544A probably damaging Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Akr1c20 T C 13: 4,573,295 (GRCm39) T7A probably benign Het
Ankrd26 A G 6: 118,517,445 (GRCm39) S459P probably benign Het
Armh4 A G 14: 50,011,243 (GRCm39) S155P probably benign Het
Ascc3 T A 10: 50,718,223 (GRCm39) probably null Het
Brd1 T C 15: 88,613,980 (GRCm39) N305S probably damaging Het
Catip T A 1: 74,407,628 (GRCm39) L320Q possibly damaging Het
Cplane1 G A 15: 8,245,866 (GRCm39) V1413M probably damaging Het
Cttnbp2 G A 6: 18,435,409 (GRCm39) Q150* probably null Het
Cyp2d22 T G 15: 82,257,481 (GRCm39) N228T probably benign Het
Dapk1 T C 13: 60,909,407 (GRCm39) V1340A probably benign Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Ddhd1 G A 14: 45,833,049 (GRCm39) T849M probably damaging Het
Dnah6 A G 6: 72,998,306 (GRCm39) S3987P probably benign Het
Dst C A 1: 34,193,727 (GRCm39) probably benign Het
Epha2 T C 4: 141,049,203 (GRCm39) probably null Het
Ern2 T C 7: 121,779,002 (GRCm39) T281A probably benign Het
Extl1 A G 4: 134,085,014 (GRCm39) F652S probably damaging Het
Gckr A G 5: 31,484,292 (GRCm39) S541G possibly damaging Het
Gdap1l1 A G 2: 163,293,419 (GRCm39) probably null Het
Gm7535 T C 17: 18,131,437 (GRCm39) probably benign Het
Gmps T A 3: 63,901,375 (GRCm39) I398N probably damaging Het
Igf2r A G 17: 12,917,414 (GRCm39) V1556A probably benign Het
Il3ra T A 14: 14,350,967 (GRCm38) N283K probably benign Het
Ist1 A G 8: 110,401,998 (GRCm39) probably benign Het
Lama3 A T 18: 12,657,867 (GRCm39) I1934F probably damaging Het
Lars1 A T 18: 42,335,762 (GRCm39) M1118K possibly damaging Het
Lpin2 C T 17: 71,553,514 (GRCm39) S846L probably damaging Het
Lrrc4b C A 7: 44,111,739 (GRCm39) T537K probably damaging Het
Ltn1 G A 16: 87,202,407 (GRCm39) probably benign Het
Meiob A G 17: 25,054,135 (GRCm39) T401A probably benign Het
Mettl21e G A 1: 44,250,283 (GRCm39) T41M probably damaging Het
Miga1 C T 3: 151,996,480 (GRCm39) E323K probably damaging Het
Ndufs1 A T 1: 63,198,907 (GRCm39) probably null Het
Or5p62 T C 7: 107,771,882 (GRCm39) D23G probably benign Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Parp6 T C 9: 59,540,208 (GRCm39) Y274H probably damaging Het
Prom2 A T 2: 127,381,434 (GRCm39) probably benign Het
Prune2 T A 19: 17,099,974 (GRCm39) M1826K probably benign Het
Qki T A 17: 10,457,892 (GRCm39) D159V probably damaging Het
Rab12 A T 17: 66,807,312 (GRCm39) I139N probably damaging Het
Rab25 T A 3: 88,455,362 (GRCm39) E7D probably benign Het
Rala A T 13: 18,063,174 (GRCm39) V139E probably benign Het
Ralgapa2 A G 2: 146,230,407 (GRCm39) probably benign Het
Rbl2 T A 8: 91,800,804 (GRCm39) Y89N probably damaging Het
Rho A T 6: 115,909,188 (GRCm39) I75F probably damaging Het
Slc38a4 C A 15: 96,906,830 (GRCm39) A303S probably benign Het
Slc6a15 A G 10: 103,245,670 (GRCm39) D551G probably null Het
Smyd3 T C 1: 178,871,437 (GRCm39) N314S probably benign Het
Speer4f1 T A 5: 17,684,512 (GRCm39) L180* probably null Het
Stat6 T C 10: 127,493,096 (GRCm39) V576A probably damaging Het
Strn T C 17: 78,984,803 (GRCm39) D127G possibly damaging Het
Syne1 T C 10: 4,983,096 (GRCm39) R8610G probably benign Het
Tbc1d7 A C 13: 43,306,678 (GRCm39) probably null Het
Tcf3 C T 10: 80,248,831 (GRCm39) R548Q probably damaging Het
Tlr9 C A 9: 106,103,286 (GRCm39) A859D probably benign Het
Tmem106c T A 15: 97,866,020 (GRCm39) probably benign Het
Tmprss11c A T 5: 86,379,786 (GRCm39) probably benign Het
Tnfsf18 A G 1: 161,322,300 (GRCm39) R7G probably benign Het
Tnrc6b T A 15: 80,742,871 (GRCm39) probably null Het
Trpm7 A T 2: 126,639,433 (GRCm39) F1684I probably damaging Het
Ttbk1 C A 17: 46,789,864 (GRCm39) R133L possibly damaging Het
Ttn A G 2: 76,551,686 (GRCm39) S22962P probably damaging Het
Ube2q1 T A 3: 89,683,460 (GRCm39) L135Q probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vwce T C 19: 10,637,337 (GRCm39) probably benign Het
Zbtb21 A G 16: 97,752,604 (GRCm39) S560P probably damaging Het
Other mutations in Wdhd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Wdhd1 APN 14 47,488,239 (GRCm39) missense possibly damaging 0.87
IGL01789:Wdhd1 APN 14 47,512,274 (GRCm39) missense probably benign 0.10
IGL01981:Wdhd1 APN 14 47,498,907 (GRCm39) missense probably damaging 1.00
IGL02034:Wdhd1 APN 14 47,498,808 (GRCm39) missense probably benign 0.02
IGL02932:Wdhd1 APN 14 47,509,591 (GRCm39) critical splice donor site probably null
IGL02966:Wdhd1 APN 14 47,479,101 (GRCm39) missense possibly damaging 0.93
IGL03355:Wdhd1 APN 14 47,481,346 (GRCm39) missense possibly damaging 0.78
R0414:Wdhd1 UTSW 14 47,514,045 (GRCm39) missense probably benign
R0603:Wdhd1 UTSW 14 47,501,043 (GRCm39) missense probably damaging 1.00
R1503:Wdhd1 UTSW 14 47,484,857 (GRCm39) missense probably benign 0.00
R1539:Wdhd1 UTSW 14 47,482,507 (GRCm39) missense possibly damaging 0.63
R1541:Wdhd1 UTSW 14 47,505,649 (GRCm39) nonsense probably null
R1588:Wdhd1 UTSW 14 47,493,693 (GRCm39) missense probably damaging 1.00
R1686:Wdhd1 UTSW 14 47,493,672 (GRCm39) missense probably damaging 1.00
R1916:Wdhd1 UTSW 14 47,496,034 (GRCm39) missense possibly damaging 0.89
R1952:Wdhd1 UTSW 14 47,507,647 (GRCm39) missense probably damaging 1.00
R2320:Wdhd1 UTSW 14 47,511,485 (GRCm39) missense probably benign 0.06
R2421:Wdhd1 UTSW 14 47,496,041 (GRCm39) missense probably benign 0.00
R3731:Wdhd1 UTSW 14 47,485,349 (GRCm39) missense possibly damaging 0.89
R3818:Wdhd1 UTSW 14 47,481,258 (GRCm39) critical splice donor site probably null
R3836:Wdhd1 UTSW 14 47,482,511 (GRCm39) missense probably benign 0.01
R4789:Wdhd1 UTSW 14 47,506,149 (GRCm39) missense probably benign 0.01
R4963:Wdhd1 UTSW 14 47,506,146 (GRCm39) missense possibly damaging 0.66
R4994:Wdhd1 UTSW 14 47,506,111 (GRCm39) critical splice donor site probably null
R5225:Wdhd1 UTSW 14 47,488,273 (GRCm39) missense probably benign 0.01
R5347:Wdhd1 UTSW 14 47,506,181 (GRCm39) nonsense probably null
R5377:Wdhd1 UTSW 14 47,509,678 (GRCm39) missense probably benign 0.15
R6038:Wdhd1 UTSW 14 47,501,037 (GRCm39) missense possibly damaging 0.89
R6038:Wdhd1 UTSW 14 47,501,037 (GRCm39) missense possibly damaging 0.89
R6046:Wdhd1 UTSW 14 47,510,667 (GRCm39) nonsense probably null
R6156:Wdhd1 UTSW 14 47,505,653 (GRCm39) missense probably damaging 0.99
R6289:Wdhd1 UTSW 14 47,495,953 (GRCm39) missense possibly damaging 0.95
R6298:Wdhd1 UTSW 14 47,510,579 (GRCm39) missense possibly damaging 0.67
R6345:Wdhd1 UTSW 14 47,489,379 (GRCm39) missense probably damaging 0.99
R6405:Wdhd1 UTSW 14 47,481,324 (GRCm39) missense possibly damaging 0.91
R6500:Wdhd1 UTSW 14 47,488,217 (GRCm39) splice site probably null
R6564:Wdhd1 UTSW 14 47,485,499 (GRCm39) missense probably benign
R6897:Wdhd1 UTSW 14 47,485,587 (GRCm39) missense probably damaging 1.00
R7262:Wdhd1 UTSW 14 47,489,430 (GRCm39) missense probably benign 0.08
R7444:Wdhd1 UTSW 14 47,489,405 (GRCm39) nonsense probably null
R7496:Wdhd1 UTSW 14 47,511,481 (GRCm39) missense probably benign 0.39
R7503:Wdhd1 UTSW 14 47,488,248 (GRCm39) missense probably benign 0.25
R8317:Wdhd1 UTSW 14 47,500,994 (GRCm39) missense probably damaging 1.00
R8323:Wdhd1 UTSW 14 47,512,252 (GRCm39) missense possibly damaging 0.85
R8331:Wdhd1 UTSW 14 47,509,702 (GRCm39) splice site probably null
R8338:Wdhd1 UTSW 14 47,506,120 (GRCm39) missense probably benign
R8363:Wdhd1 UTSW 14 47,513,989 (GRCm39) missense probably damaging 1.00
R8944:Wdhd1 UTSW 14 47,504,470 (GRCm39) missense probably benign
R8946:Wdhd1 UTSW 14 47,482,752 (GRCm39) missense probably benign 0.01
R9045:Wdhd1 UTSW 14 47,511,409 (GRCm39) missense probably benign 0.01
R9428:Wdhd1 UTSW 14 47,489,427 (GRCm39) nonsense probably null
R9444:Wdhd1 UTSW 14 47,488,324 (GRCm39) missense possibly damaging 0.85
R9491:Wdhd1 UTSW 14 47,505,616 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- gccctctcTCTAACTTTTCCATTTCCGA -3'
(R):5'- CCTGACCAGAGCACAAAGCATTTAACAT -3'

Sequencing Primer
(F):5'- TGTACCTCTAGACGCTAATTAAGCC -3'
(R):5'- tggtgggtaggcagaagg -3'
Posted On 2013-04-16