Incidental Mutation 'PIT4418001:Ikbip'
ID 555599
Institutional Source Beutler Lab
Gene Symbol Ikbip
Ensembl Gene ENSMUSG00000019975
Gene Name IKBKB interacting protein
Synonyms 1200009F10Rik, 1700023M03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # PIT4418001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 90918802-90938469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90932395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 346 (H346Q)
Ref Sequence ENSEMBL: ENSMUSP00000020149 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020149] [ENSMUST00000020150]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020149
AA Change: H346Q

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000020149
Gene: ENSMUSG00000019975
AA Change: H346Q

DomainStartEndE-ValueType
low complexity region 42 58 N/A INTRINSIC
coiled coil region 80 154 N/A INTRINSIC
coiled coil region 175 257 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000020150
SMART Domains Protein: ENSMUSP00000020150
Gene: ENSMUSG00000019975

DomainStartEndE-ValueType
low complexity region 42 58 N/A INTRINSIC
coiled coil region 89 109 N/A INTRINSIC
coiled coil region 234 261 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.8%
  • 10x: 84.7%
  • 20x: 71.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 T C 6: 88,816,630 (GRCm39) Y100C possibly damaging Het
Adamtsl1 T C 4: 86,161,961 (GRCm39) Y365H probably damaging Het
Atad2b A T 12: 5,074,587 (GRCm39) I1049F probably benign Het
Atg9b A T 5: 24,590,513 (GRCm39) S859T possibly damaging Het
Banp G A 8: 122,732,365 (GRCm39) A380T probably damaging Het
Brinp3 C T 1: 146,777,161 (GRCm39) T536I probably damaging Het
Cacna1c T C 6: 118,631,384 (GRCm39) E1155G Het
Capn12 T C 7: 28,585,961 (GRCm39) S270P probably benign Het
Cbs A T 17: 31,834,495 (GRCm39) I498N possibly damaging Het
Cep68 T C 11: 20,189,731 (GRCm39) K427R probably benign Het
Cobl G A 11: 12,206,240 (GRCm39) T545I possibly damaging Het
Cr2 T A 1: 194,839,760 (GRCm39) M556L probably benign Het
Crebbp A G 16: 3,932,689 (GRCm39) S1068P probably benign Het
D2hgdh C T 1: 93,766,590 (GRCm39) H385Y possibly damaging Het
Dennd1b T C 1: 139,008,999 (GRCm39) L159P Het
Dnajb4 A T 3: 151,899,134 (GRCm39) F31I possibly damaging Het
Dnajc16 A G 4: 141,498,260 (GRCm39) F369S probably damaging Het
Dtl A T 1: 191,273,429 (GRCm39) L493H possibly damaging Het
Efcab5 T A 11: 77,022,877 (GRCm39) Q612L possibly damaging Het
Efr3b A T 12: 4,030,490 (GRCm39) L407Q possibly damaging Het
Ehbp1 T A 11: 22,003,494 (GRCm39) Q1085L probably damaging Het
Ell T C 8: 71,034,331 (GRCm39) V199A probably damaging Het
Elmod2 G T 8: 84,048,171 (GRCm39) T97K probably benign Het
Epn3 T C 11: 94,386,956 (GRCm39) E138G probably damaging Het
Esf1 A T 2: 140,001,697 (GRCm39) F383L probably benign Het
Fam193a A T 5: 34,597,879 (GRCm39) T559S probably damaging Het
Galr2 T C 11: 116,174,084 (GRCm39) V238A probably benign Het
Gm3476 T C 14: 6,118,411 (GRCm38) I237M probably benign Het
Gm5160 A T 18: 14,558,339 (GRCm39) I139F probably damaging Het
Gpr15 T C 16: 58,538,313 (GRCm39) T259A probably benign Het
Iffo1 A G 6: 125,126,746 (GRCm39) K293E possibly damaging Het
Il4ra G A 7: 125,175,510 (GRCm39) G573S probably benign Het
Ing2 A T 8: 48,122,125 (GRCm39) M141K probably benign Het
Itga6 T C 2: 71,664,414 (GRCm39) S517P probably benign Het
Itprid1 T G 6: 55,945,330 (GRCm39) S684A probably damaging Het
Kcnab1 A G 3: 65,265,741 (GRCm39) E295G probably benign Het
Klhl21 A C 4: 152,099,835 (GRCm39) Y515S possibly damaging Het
Lcn9 A T 2: 25,714,553 (GRCm39) Y139F probably damaging Het
Mcemp1 G T 8: 3,717,052 (GRCm39) L64F probably null Het
Mos T C 4: 3,870,814 (GRCm39) D334G possibly damaging Het
Myo9b T G 8: 71,775,591 (GRCm39) F338V probably damaging Het
Nefl G A 14: 68,323,979 (GRCm39) V406M probably damaging Het
Nfam1 C A 15: 82,885,689 (GRCm39) R181L probably damaging Het
Ntn5 A G 7: 45,335,925 (GRCm39) R119G probably damaging Het
Or12e10 G T 2: 87,640,938 (GRCm39) C258F probably damaging Het
Or5b101 A T 19: 13,005,095 (GRCm39) Y199* probably null Het
Or7a40 T C 16: 16,491,719 (GRCm39) N42S probably damaging Het
Plch2 A T 4: 155,073,960 (GRCm39) V914E probably damaging Het
Ppp1r12c T C 7: 4,504,266 (GRCm39) Q111R probably null Het
Ptchd3 T A 11: 121,732,566 (GRCm39) Y485* probably null Het
Ptchd4 T A 17: 42,813,980 (GRCm39) I627N probably damaging Het
Retnlb T C 16: 48,637,631 (GRCm39) V19A probably benign Het
Rimbp2 T A 5: 128,857,425 (GRCm39) T809S probably benign Het
Sema6c T A 3: 95,077,401 (GRCm39) D404E possibly damaging Het
Slc22a16 C T 10: 40,479,821 (GRCm39) A631V unknown Het
Snai3 A T 8: 123,183,073 (GRCm39) H157Q probably benign Het
Snx15 T C 19: 6,173,961 (GRCm39) Y52C probably damaging Het
Strbp T C 2: 37,535,504 (GRCm39) E68G probably benign Het
Sun1 T A 5: 139,212,343 (GRCm39) D155E probably damaging Het
Susd2 T C 10: 75,474,183 (GRCm39) D627G probably benign Het
Tas2r108 T A 6: 40,470,614 (GRCm39) I30K probably damaging Het
Tmc2 T C 2: 130,090,571 (GRCm39) V639A probably damaging Het
Trmt1 T C 8: 85,424,299 (GRCm39) Y445H probably damaging Het
Ttn A T 2: 76,597,554 (GRCm39) N19786K probably damaging Het
Vmn1r79 T G 7: 11,910,766 (GRCm39) V216G probably damaging Het
Wdr64 C A 1: 175,571,160 (GRCm39) Y331* probably null Het
Zfyve28 A T 5: 34,390,721 (GRCm39) V180E probably damaging Het
Zic4 C T 9: 91,261,447 (GRCm39) T234I possibly damaging Het
Other mutations in Ikbip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02008:Ikbip APN 10 90,929,119 (GRCm39) critical splice donor site probably null
IGL02166:Ikbip APN 10 90,931,652 (GRCm39) missense probably damaging 0.97
IGL02493:Ikbip APN 10 90,932,456 (GRCm39) missense probably damaging 0.99
IGL02591:Ikbip APN 10 90,932,154 (GRCm39) missense probably damaging 1.00
R1763:Ikbip UTSW 10 90,932,343 (GRCm39) missense probably damaging 1.00
R2031:Ikbip UTSW 10 90,932,474 (GRCm39) missense probably benign
R4436:Ikbip UTSW 10 90,937,751 (GRCm39) missense probably damaging 0.97
R4981:Ikbip UTSW 10 90,931,848 (GRCm39) missense probably benign
R6658:Ikbip UTSW 10 90,932,181 (GRCm39) missense probably benign 0.00
R6671:Ikbip UTSW 10 90,932,469 (GRCm39) splice site probably null
R7109:Ikbip UTSW 10 90,919,090 (GRCm39) missense probably benign 0.00
R7595:Ikbip UTSW 10 90,932,447 (GRCm39) missense probably benign
R7596:Ikbip UTSW 10 90,918,891 (GRCm39) unclassified probably benign
R7840:Ikbip UTSW 10 90,937,617 (GRCm39) missense possibly damaging 0.90
R8278:Ikbip UTSW 10 90,932,190 (GRCm39) missense probably benign 0.00
R8868:Ikbip UTSW 10 90,932,187 (GRCm39) missense possibly damaging 0.53
R8933:Ikbip UTSW 10 90,919,092 (GRCm39) missense probably benign 0.43
R9261:Ikbip UTSW 10 90,932,249 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- TCTCAGGATCTGATAGGGACAG -3'
(R):5'- ACTCCATATGGCGCACACTC -3'

Sequencing Primer
(F):5'- CTCAGGATCTGATAGGGACAGAAAGG -3'
(R):5'- CATCAGAAGGTGTGCAGTAT -3'
Posted On 2019-06-07