Incidental Mutation 'R1935:Kbtbd4'
ID 215876
Institutional Source Beutler Lab
Gene Symbol Kbtbd4
Ensembl Gene ENSMUSG00000005505
Gene Name kelch repeat and BTB (POZ) domain containing 4
Synonyms 2510026C23Rik
MMRRC Submission 039953-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.419) question?
Stock # R1935 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 90735113-90740905 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90737895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 215 (V215A)
Ref Sequence ENSEMBL: ENSMUSP00000107089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005647] [ENSMUST00000090682] [ENSMUST00000111464]
AlphaFold Q8R179
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: V199A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088179
Gene: ENSMUSG00000005505
AA Change: V199A

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: V215A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107089
Gene: ENSMUSG00000005505
AA Change: V215A

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: ENSMUST00000144683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155621
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155372
Meta Mutation Damage Score 0.7029 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.6%
Validation Efficiency 95% (95/100)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 121,846,572 (GRCm39) V30M probably benign Het
Abcg8 C T 17: 85,002,417 (GRCm39) probably benign Het
Ablim1 T A 19: 57,204,397 (GRCm39) probably null Het
Acvr1c A T 2: 58,173,517 (GRCm39) N248K probably damaging Het
Adgrf3 A T 5: 30,407,304 (GRCm39) N207K probably benign Het
Anapc4 T A 5: 52,997,010 (GRCm39) D94E probably damaging Het
Arfgef2 A G 2: 166,705,523 (GRCm39) N918S probably benign Het
Arhgap45 A G 10: 79,866,788 (GRCm39) N1097S probably damaging Het
Atf2 G A 2: 73,676,563 (GRCm39) P184S probably damaging Het
Atg2a A G 19: 6,302,566 (GRCm39) Y963C probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Atrn T C 2: 130,799,955 (GRCm39) V444A probably damaging Het
Avpr1a G A 10: 122,285,695 (GRCm39) probably null Het
Best3 A C 10: 116,860,291 (GRCm39) Q517P probably benign Het
C3 A G 17: 57,525,829 (GRCm39) L851P probably damaging Het
Cacna2d2 T C 9: 107,386,455 (GRCm39) F194S probably damaging Het
Carns1 T C 19: 4,215,473 (GRCm39) E903G probably damaging Het
Chn1 A G 2: 73,455,245 (GRCm39) C39R probably damaging Het
Ciao1 A G 2: 127,088,380 (GRCm39) S148P possibly damaging Het
Clrn3 A C 7: 135,115,753 (GRCm39) I199S possibly damaging Het
Cngb1 C A 8: 96,026,320 (GRCm39) G154W probably damaging Het
Cnot2 G C 10: 116,334,320 (GRCm39) P274R possibly damaging Het
Cops7a G A 6: 124,939,359 (GRCm39) R97* probably null Het
Coro7 T C 16: 4,446,596 (GRCm39) E843G probably benign Het
Crocc T C 4: 140,761,369 (GRCm39) R755G possibly damaging Het
Crtam G C 9: 40,915,846 (GRCm39) P13A probably benign Het
Ddrgk1 G T 2: 130,505,480 (GRCm39) probably benign Het
Defb26 T A 2: 152,350,195 (GRCm39) K28N possibly damaging Het
Dnah8 G A 17: 30,945,870 (GRCm39) probably benign Het
Dnah8 A G 17: 30,854,479 (GRCm39) E47G unknown Het
Dnhd1 A T 7: 105,323,183 (GRCm39) M564L probably benign Het
Dusp15 A G 2: 152,787,341 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Eapp A T 12: 54,720,513 (GRCm39) M234K probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gfi1b T C 2: 28,500,125 (GRCm39) K302R possibly damaging Het
Gpatch1 A G 7: 34,994,947 (GRCm39) S440P probably damaging Het
Gpr6 T C 10: 40,947,477 (GRCm39) E35G probably benign Het
H2-Q1 A T 17: 35,542,469 (GRCm39) M305L probably benign Het
Hoxa10 C A 6: 52,211,350 (GRCm39) G189C possibly damaging Het
Klf16 G A 10: 80,412,739 (GRCm39) A99V probably benign Het
Lvrn A T 18: 47,011,387 (GRCm39) Y448F probably benign Het
Med19 A G 2: 84,516,002 (GRCm39) H177R possibly damaging Het
Mif G T 10: 75,695,681 (GRCm39) H41N possibly damaging Het
Mpl A G 4: 118,312,936 (GRCm39) M132T probably benign Het
Mtcl1 G T 17: 66,686,409 (GRCm39) H480Q probably benign Het
Myo18b T C 5: 112,908,222 (GRCm39) N2017S probably benign Het
Neurl4 C T 11: 69,797,959 (GRCm39) R740C probably damaging Het
Nlgn1 G T 3: 26,385,939 (GRCm39) probably benign Het
Or14j7 T A 17: 38,234,993 (GRCm39) C179S probably damaging Het
Or2ak6 T A 11: 58,593,172 (GRCm39) L215Q probably damaging Het
Or4c11 A C 2: 88,695,524 (GRCm39) M192L probably benign Het
Or6c214 A G 10: 129,590,584 (GRCm39) V245A probably damaging Het
Paip1 T A 13: 119,593,550 (GRCm39) M463K probably damaging Het
Parp3 T A 9: 106,351,931 (GRCm39) Y147F probably damaging Het
Pgrmc2 C A 3: 41,037,473 (GRCm39) probably benign Het
Phldb3 G A 7: 24,316,832 (GRCm39) A278T probably benign Het
Plxnb1 T C 9: 108,924,715 (GRCm39) probably null Het
Pom121 G A 5: 135,412,740 (GRCm39) R481C unknown Het
Psg22 A T 7: 18,453,635 (GRCm39) N149I probably damaging Het
Recql5 T C 11: 115,788,017 (GRCm39) Y434C probably benign Het
Rexo1 A G 10: 80,386,303 (GRCm39) S252P probably benign Het
Rtl1 A G 12: 109,558,354 (GRCm39) S1162P probably benign Het
Samd9l G T 6: 3,376,269 (GRCm39) Q331K probably benign Het
Sipa1l1 T C 12: 82,419,208 (GRCm39) Y629H probably damaging Het
Slc12a2 A T 18: 58,037,425 (GRCm39) I512L possibly damaging Het
Slc17a8 T C 10: 89,413,777 (GRCm39) M484V probably benign Het
Slc25a24 A T 3: 109,043,581 (GRCm39) E79D probably damaging Het
Snw1 T A 12: 87,506,247 (GRCm39) I218F probably damaging Het
Sorcs1 T C 19: 50,221,082 (GRCm39) D545G probably damaging Het
Sorcs2 A G 5: 36,228,731 (GRCm39) S104P possibly damaging Het
Spry4 A G 18: 38,723,142 (GRCm39) I207T possibly damaging Het
Tex101 A G 7: 24,367,650 (GRCm39) V234A probably benign Het
Thra T A 11: 98,653,899 (GRCm39) probably benign Het
Tmem161b T A 13: 84,441,585 (GRCm39) L210Q probably damaging Het
Tmem50a A G 4: 134,630,953 (GRCm39) probably benign Het
Tmem63b A G 17: 45,989,887 (GRCm39) probably null Het
Tnrc6c A G 11: 117,646,849 (GRCm39) D1450G possibly damaging Het
Trdmt1 A G 2: 13,516,420 (GRCm39) L386P probably damaging Het
Trip12 T C 1: 84,771,822 (GRCm39) S109G possibly damaging Het
Trit1 T C 4: 122,948,033 (GRCm39) I451T probably benign Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttn T A 2: 76,577,522 (GRCm39) D24457V probably damaging Het
Ttn A C 2: 76,715,834 (GRCm39) probably benign Het
Tubgcp4 A T 2: 121,009,147 (GRCm39) probably benign Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Vps72 T A 3: 95,029,851 (GRCm39) V290D probably benign Het
Zfp408 A T 2: 91,480,093 (GRCm39) M1K probably null Het
Zfy2 C A Y: 2,121,496 (GRCm39) M132I probably benign Het
Other mutations in Kbtbd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Kbtbd4 APN 2 90,736,252 (GRCm39) missense probably damaging 1.00
R0306:Kbtbd4 UTSW 2 90,744,530 (GRCm39) unclassified probably benign
R0533:Kbtbd4 UTSW 2 90,737,948 (GRCm39) missense probably benign 0.07
R0666:Kbtbd4 UTSW 2 90,744,459 (GRCm39) unclassified probably benign
R4207:Kbtbd4 UTSW 2 90,740,099 (GRCm39) missense probably damaging 0.99
R5658:Kbtbd4 UTSW 2 90,736,423 (GRCm39) missense probably benign 0.09
R5977:Kbtbd4 UTSW 2 90,736,487 (GRCm39) missense probably benign 0.39
R6546:Kbtbd4 UTSW 2 90,739,635 (GRCm39) missense probably damaging 1.00
R6653:Kbtbd4 UTSW 2 90,740,113 (GRCm39) nonsense probably null
R6714:Kbtbd4 UTSW 2 90,736,183 (GRCm39) unclassified probably benign
R7690:Kbtbd4 UTSW 2 90,736,240 (GRCm39) missense possibly damaging 0.69
R8090:Kbtbd4 UTSW 2 90,736,183 (GRCm39) unclassified probably benign
R9089:Kbtbd4 UTSW 2 90,737,909 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- AGAGCCCCTTTAAGATTGCCAT -3'
(R):5'- CCAAAATAGAGAGAAGGCCACT -3'

Sequencing Primer
(F):5'- GCCATTCATGAGACTGGATAGATTGC -3'
(R):5'- CACTGAGGGCCACTGAGGAATG -3'
Posted On 2014-07-14