Incidental Mutation 'R0610:Wbp1l'
ID54671
Institutional Source Beutler Lab
Gene Symbol Wbp1l
Ensembl Gene ENSMUSG00000047731
Gene NameWW domain binding protein 1 like
Synonyms
MMRRC Submission 038799-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0610 (G1)
Quality Score210
Status Validated
Chromosome19
Chromosomal Location46599084-46657389 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 46654670 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 370 (I370N)
Ref Sequence ENSEMBL: ENSMUSP00000096975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099376] [ENSMUST00000111855] [ENSMUST00000132202] [ENSMUST00000138302]
Predicted Effect probably damaging
Transcript: ENSMUST00000099376
AA Change: I370N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096975
Gene: ENSMUSG00000047731
AA Change: I370N

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:WBP-1 59 160 1.2e-52 PFAM
low complexity region 163 214 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111855
AA Change: I333N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107486
Gene: ENSMUSG00000047731
AA Change: I333N

DomainStartEndE-ValueType
Pfam:WBP-1 22 123 1.1e-52 PFAM
low complexity region 126 177 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132202
SMART Domains Protein: ENSMUSP00000121821
Gene: ENSMUSG00000047731

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:WBP-1 43 72 1.7e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138302
AA Change: I354N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117929
Gene: ENSMUSG00000047731
AA Change: I354N

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:WBP-1 43 144 1.2e-52 PFAM
low complexity region 147 198 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156649
Meta Mutation Damage Score 0.1786 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 99% (97/98)
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,993,056 T141S probably benign Het
4930578I06Rik G A 14: 63,986,265 R21* probably null Het
9530003J23Rik A G 10: 117,237,730 F66S probably benign Het
Abca15 A G 7: 120,365,786 E757G possibly damaging Het
Abca5 T C 11: 110,301,527 T720A probably benign Het
Actr5 T A 2: 158,632,456 probably null Het
Adgrl3 T C 5: 81,693,716 probably benign Het
Adra1a A G 14: 66,637,792 D72G probably damaging Het
Ahnak G T 19: 9,007,878 L2175F probably benign Het
AK157302 A G 13: 21,495,663 T120A possibly damaging Het
Apol7a G A 15: 77,389,254 A336V probably benign Het
Asic1 C A 15: 99,698,899 H525Q probably benign Het
Atxn7l2 T C 3: 108,204,774 D335G possibly damaging Het
Bpgm G T 6: 34,504,349 R227L possibly damaging Het
Calm4 T A 13: 3,838,320 V142E possibly damaging Het
Catsperg1 A T 7: 29,190,619 L721Q probably damaging Het
Cdh26 A G 2: 178,449,898 I83M probably damaging Het
Cep295 A C 9: 15,322,754 S2249A possibly damaging Het
Cln3 A G 7: 126,580,189 F139L probably damaging Het
Cmpk2 T A 12: 26,478,056 L424Q possibly damaging Het
Col12a1 A T 9: 79,707,848 V53E probably benign Het
Csmd1 G A 8: 15,918,208 R3140C possibly damaging Het
Dagla A G 19: 10,271,558 W11R probably damaging Het
Dbx2 C T 15: 95,624,897 V310M probably benign Het
Disp2 T A 2: 118,792,236 C1150S probably benign Het
Dock3 T C 9: 107,023,788 D326G probably damaging Het
Dph1 G T 11: 75,185,957 probably benign Het
Dyrk1b C A 7: 28,186,634 T594K probably damaging Het
Evx2 C A 2: 74,655,987 A353S probably benign Het
Fam71f1 T A 6: 29,326,577 V231E probably benign Het
Gm4737 T C 16: 46,153,901 E371G probably damaging Het
Gm4788 G A 1: 139,701,846 T799I probably benign Het
Greb1 A C 12: 16,696,442 S1276A probably benign Het
Hhipl1 T A 12: 108,319,402 C490* probably null Het
Hmmr G T 11: 40,715,902 T231K probably damaging Het
Hspa4l A C 3: 40,779,400 E526D probably benign Het
Ibsp A G 5: 104,310,134 E179G probably benign Het
Ift140 C T 17: 25,035,803 A150V probably benign Het
Igf2bp2 A G 16: 22,070,309 S416P probably benign Het
Ighe T C 12: 113,271,743 K294E unknown Het
Ino80 G A 2: 119,382,960 R1249C probably damaging Het
Iqca C A 1: 90,142,731 G133V probably null Het
Kng2 T A 16: 23,000,594 N231Y possibly damaging Het
Lca5 A T 9: 83,399,739 C331S probably benign Het
Lrrc1 A G 9: 77,472,206 I101T possibly damaging Het
Lrrk2 A T 15: 91,815,416 I2489L probably benign Het
Mapk9 A C 11: 49,863,573 N51T probably benign Het
Marf1 C T 16: 14,142,534 A549T probably damaging Het
Nek2 T A 1: 191,822,515 V113D probably damaging Het
Nr4a3 C A 4: 48,051,903 A248E probably benign Het
Nrp1 T C 8: 128,502,618 I859T probably damaging Het
Olfm5 A T 7: 104,154,445 Y195* probably null Het
Olfr354 T A 2: 36,907,659 W238R probably damaging Het
Olfr71 T A 4: 43,706,400 H56L possibly damaging Het
Olfr955 A G 9: 39,469,823 L301P probably damaging Het
Oxtr C T 6: 112,477,177 R42Q probably benign Het
Pcnx2 A G 8: 125,839,687 W1006R probably damaging Het
Pdpk1 T C 17: 24,098,171 probably null Het
Ryr2 T A 13: 11,622,952 H3731L probably damaging Het
Sdr16c5 T G 4: 4,016,116 E103D possibly damaging Het
Setdb2 A C 14: 59,417,470 S324A possibly damaging Het
Slc17a3 C T 13: 23,855,858 S293F probably damaging Het
Slc17a8 A T 10: 89,576,626 I499K probably damaging Het
Slc2a9 T A 5: 38,379,942 I389F probably damaging Het
Slc30a1 T C 1: 191,909,424 V394A probably damaging Het
Slc41a2 A G 10: 83,283,728 I390T possibly damaging Het
Slco1a1 A G 6: 141,918,461 probably null Het
Slit2 A G 5: 48,275,674 K1053E possibly damaging Het
Smarca2 T A 19: 26,691,391 L930Q probably damaging Het
Snx6 T C 12: 54,751,789 H387R probably damaging Het
Sox5 A T 6: 143,833,439 M622K possibly damaging Het
Ston1 C A 17: 88,635,281 N38K possibly damaging Het
Strbp C T 2: 37,584,077 V658I probably damaging Het
Strn3 T C 12: 51,610,448 probably null Het
Suco T G 1: 161,859,503 D96A probably benign Het
Suco A G 1: 161,864,032 probably benign Het
Sytl2 A T 7: 90,380,853 probably benign Het
Tmem41b T A 7: 109,981,083 M25L probably benign Het
Tmem41b T A 7: 109,981,085 D91V probably damaging Het
Tmem50b C T 16: 91,583,286 A68T probably damaging Het
Tmprss11e G A 5: 86,707,347 Q400* probably null Het
Tnfsf13b G A 8: 10,031,661 probably null Het
Trappc8 A G 18: 20,837,188 V916A probably damaging Het
Trdn G T 10: 33,474,453 V673F probably damaging Het
Trim28 G T 7: 13,025,784 probably benign Het
Txnrd2 T C 16: 18,472,882 V427A probably damaging Het
Uggt1 T C 1: 36,165,506 probably benign Het
Vmn1r36 A G 6: 66,716,420 L51P probably damaging Het
Vmn1r63 T A 7: 5,803,064 M190L possibly damaging Het
Vmn2r116 T A 17: 23,387,312 N399K probably damaging Het
Vmn2r117 T C 17: 23,475,514 N453S probably benign Het
Zfp445 T C 9: 122,852,981 K632E probably benign Het
Zfp850 C T 7: 27,989,394 R463H probably damaging Het
Zyg11a A G 4: 108,204,857 L249P probably damaging Het
Other mutations in Wbp1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Wbp1l APN 19 46644369 missense probably damaging 1.00
IGL01602:Wbp1l APN 19 46654400 missense possibly damaging 0.92
IGL01605:Wbp1l APN 19 46654400 missense possibly damaging 0.92
IGL01820:Wbp1l APN 19 46652483 missense probably damaging 1.00
IGL02058:Wbp1l APN 19 46652520 nonsense probably null
IGL02117:Wbp1l APN 19 46644437 missense probably benign 0.26
IGL02245:Wbp1l APN 19 46654618 missense possibly damaging 0.52
IGL02321:Wbp1l APN 19 46654310 missense probably benign 0.01
IGL03126:Wbp1l APN 19 46644399 missense probably damaging 0.96
PIT4810001:Wbp1l UTSW 19 46654322 missense probably benign 0.07
R1636:Wbp1l UTSW 19 46644444 missense probably damaging 1.00
R3978:Wbp1l UTSW 19 46653957 splice site probably null
R3980:Wbp1l UTSW 19 46653957 splice site probably null
R5387:Wbp1l UTSW 19 46644457 critical splice donor site probably null
R5524:Wbp1l UTSW 19 46654256 missense possibly damaging 0.94
R5889:Wbp1l UTSW 19 46654180 nonsense probably null
R5935:Wbp1l UTSW 19 46654180 nonsense probably null
R5942:Wbp1l UTSW 19 46654430 missense probably damaging 1.00
R5964:Wbp1l UTSW 19 46654180 nonsense probably null
R5966:Wbp1l UTSW 19 46654180 nonsense probably null
R6480:Wbp1l UTSW 19 46654319 missense probably damaging 0.96
R7290:Wbp1l UTSW 19 46623437 intron probably benign
R7297:Wbp1l UTSW 19 46654400 missense possibly damaging 0.92
R7363:Wbp1l UTSW 19 46654130 missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- CACGCTCATAGATGATGCTCTGGAC -3'
(R):5'- TGTGTTTCTCAGCCAGGCAGGTAG -3'

Sequencing Primer
(F):5'- GACTTCTGTGACAGCTGTCA -3'
(R):5'- ACACCCTGAATTTGTACCTGGAG -3'
Posted On2013-07-11