Incidental Mutation 'IGL01583:Kbtbd4'
ID91424
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kbtbd4
Ensembl Gene ENSMUSG00000005505
Gene Namekelch repeat and BTB (POZ) domain containing 4
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.563) question?
Stock #IGL01583
Quality Score
Status
Chromosome2
Chromosomal Location90904740-90911626 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 90905908 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 88 (S88P)
Ref Sequence ENSEMBL: ENSMUSP00000107089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005647] [ENSMUST00000090682] [ENSMUST00000111464]
Predicted Effect probably benign
Transcript: ENSMUST00000005647
SMART Domains Protein: ENSMUSP00000005647
Gene: ENSMUSG00000005510

DomainStartEndE-ValueType
Pfam:Complex1_30kDa 85 207 1.9e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000077874
SMART Domains Protein: ENSMUSP00000077036
Gene: ENSMUSG00000063235

DomainStartEndE-ValueType
PTPc_DSPc 118 252 9.8e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000090682
AA Change: S72P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088179
Gene: ENSMUSG00000005505
AA Change: S72P

DomainStartEndE-ValueType
BTB 45 142 1.43e-25 SMART
BACK 147 239 6.08e-10 SMART
SCOP:d1k3ia3 279 467 8e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111461
SMART Domains Protein: ENSMUSP00000107087
Gene: ENSMUSG00000063235

DomainStartEndE-ValueType
low complexity region 81 98 N/A INTRINSIC
low complexity region 114 133 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111464
AA Change: S88P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107089
Gene: ENSMUSG00000005505
AA Change: S88P

DomainStartEndE-ValueType
BTB 61 158 1.43e-25 SMART
BACK 163 255 6.08e-10 SMART
SCOP:d1k3ia3 295 483 9e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155372
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,296,409 M329K possibly damaging Het
Abce1 G A 8: 79,693,447 T300M probably damaging Het
Acap1 G A 11: 69,881,677 S536L probably damaging Het
Adcy5 C A 16: 35,283,513 probably benign Het
Ap2b1 G T 11: 83,324,611 R127L possibly damaging Het
Asxl3 T G 18: 22,516,597 S548A probably benign Het
Atm G A 9: 53,484,247 probably benign Het
Cep250 T C 2: 155,976,149 V807A probably damaging Het
Ces1g T A 8: 93,306,959 Y445F probably damaging Het
Cnksr3 A G 10: 7,120,512 Y241H probably benign Het
Col9a1 T C 1: 24,185,144 S136P unknown Het
Cux2 C A 5: 121,874,107 G422W probably damaging Het
Cyp1a2 A T 9: 57,682,372 M53K probably benign Het
Ddx20 T C 3: 105,686,670 D123G probably damaging Het
Dock4 T A 12: 40,810,467 L1284* probably null Het
Dpp9 A C 17: 56,211,666 L46R probably benign Het
Elavl1 A T 8: 4,301,699 V139E probably damaging Het
Fndc3b T C 3: 27,428,995 Y1018C probably damaging Het
Fubp1 A G 3: 152,215,624 N78D possibly damaging Het
Fubp3 C T 2: 31,611,743 probably benign Het
Gbx2 C A 1: 89,928,837 R277L probably damaging Het
Gm128 T C 3: 95,240,783 R67G possibly damaging Het
Gpc2 T A 5: 138,275,530 R469W probably damaging Het
Ifi30 G A 8: 70,764,762 probably benign Het
Kif23 A T 9: 61,935,468 Y216N probably damaging Het
Lgals4 A G 7: 28,841,548 D299G probably damaging Het
Lmx1b A G 2: 33,569,059 S161P probably benign Het
Lrcol1 T A 5: 110,354,578 S107T probably benign Het
Lrrc28 A T 7: 67,545,475 probably null Het
Ncoa4 T C 14: 32,172,927 V42A probably benign Het
Nkd2 C T 13: 73,821,480 S277N probably benign Het
Nlrp2 A T 7: 5,337,770 L15Q probably damaging Het
Nynrin T G 14: 55,870,511 L1025R probably damaging Het
Olfr101 C T 17: 37,299,738 R228H probably benign Het
Olfr1134 G T 2: 87,656,413 C169* probably null Het
Piwil4 A T 9: 14,734,487 F152I probably damaging Het
Plod3 T C 5: 136,996,148 S705P probably benign Het
Ppp2r2c T A 5: 36,868,822 M1K probably null Het
Rgs19 T C 2: 181,689,453 E129G probably damaging Het
Rpap2 T A 5: 107,620,195 S223T probably damaging Het
Shox2 T C 3: 66,973,771 probably benign Het
Slc30a4 T C 2: 122,685,217 I370V probably benign Het
Slco1b2 A G 6: 141,663,672 I269M possibly damaging Het
Slco1c1 A G 6: 141,540,067 Y142C probably damaging Het
Slco3a1 T C 7: 74,284,450 N658S probably benign Het
Sos1 A T 17: 80,433,900 S485R probably benign Het
Srpk1 A G 17: 28,606,317 L127P probably damaging Het
St3gal6 T A 16: 58,493,670 probably benign Het
Stk4 T A 2: 164,074,214 M1K probably null Het
Tbc1d12 A G 19: 38,882,732 E313G probably benign Het
Tbk1 A G 10: 121,557,229 I472T probably benign Het
Tiam1 G A 16: 89,789,280 R849W probably damaging Het
Tle3 A G 9: 61,410,025 T381A probably benign Het
Tmem82 T G 4: 141,614,643 T337P probably benign Het
Tmprss15 T C 16: 79,071,261 T220A probably benign Het
Ung A G 5: 114,137,308 K242E possibly damaging Het
Vmn1r211 A T 13: 22,852,401 M32K probably benign Het
Vps13d T G 4: 145,045,088 D956A probably damaging Het
Wdr64 T A 1: 175,767,156 probably null Het
Other mutations in Kbtbd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0306:Kbtbd4 UTSW 2 90914186 unclassified probably benign
R0533:Kbtbd4 UTSW 2 90907604 missense probably benign 0.07
R0666:Kbtbd4 UTSW 2 90914115 unclassified probably benign
R1935:Kbtbd4 UTSW 2 90907551 missense probably damaging 0.99
R4207:Kbtbd4 UTSW 2 90909755 missense probably damaging 0.99
R5658:Kbtbd4 UTSW 2 90906079 missense probably benign 0.09
R5977:Kbtbd4 UTSW 2 90906143 missense probably benign 0.39
R6546:Kbtbd4 UTSW 2 90909291 missense probably damaging 1.00
R6653:Kbtbd4 UTSW 2 90909769 nonsense probably null
R6714:Kbtbd4 UTSW 2 90905839 unclassified probably benign
R7690:Kbtbd4 UTSW 2 90905896 missense possibly damaging 0.69
R8090:Kbtbd4 UTSW 2 90905839 unclassified probably benign
Posted On2013-12-09