Incidental Mutation 'R5529:Zbtb40'
ID 433566
Institutional Source Beutler Lab
Gene Symbol Zbtb40
Ensembl Gene ENSMUSG00000060862
Gene Name zinc finger and BTB domain containing 40
Synonyms
MMRRC Submission 043087-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R5529 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 136707043-136776112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136710474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1222 (F1222L)
Ref Sequence ENSEMBL: ENSMUSP00000061899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049583]
AlphaFold Q6PCS8
Predicted Effect possibly damaging
Transcript: ENSMUST00000049583
AA Change: F1222L

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061899
Gene: ENSMUSG00000060862
AA Change: F1222L

DomainStartEndE-ValueType
low complexity region 8 14 N/A INTRINSIC
BTB 24 117 3.39e-18 SMART
low complexity region 150 170 N/A INTRINSIC
low complexity region 525 533 N/A INTRINSIC
low complexity region 725 741 N/A INTRINSIC
ZnF_C2H2 754 774 4.86e1 SMART
low complexity region 786 801 N/A INTRINSIC
ZnF_C2H2 825 848 1.16e-1 SMART
ZnF_C2H2 854 876 1.1e-2 SMART
ZnF_C2H2 882 905 1.16e-1 SMART
ZnF_C2H2 911 933 1.2e-3 SMART
ZnF_C2H2 939 962 8.81e-2 SMART
ZnF_C2H2 969 992 7.05e-1 SMART
ZnF_C2H2 997 1019 1.47e-3 SMART
ZnF_C2H2 1025 1047 2.86e-1 SMART
ZnF_C2H2 1065 1088 6.67e-2 SMART
ZnF_C2H2 1094 1117 6.23e-2 SMART
ZnF_C2H2 1123 1146 1.53e-1 SMART
ZnF_C2H2 1154 1177 1.56e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000218160
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,304,040 (GRCm39) Y2079C probably damaging Het
Alg2 T C 4: 47,472,101 (GRCm39) R236G probably damaging Het
Alpl T A 4: 137,473,733 (GRCm39) N323I probably damaging Het
Anxa3 A G 5: 96,976,238 (GRCm39) E172G probably benign Het
Atp8a2 A G 14: 60,031,314 (GRCm39) probably null Het
Cadps T C 14: 12,454,285 (GRCm38) K1078E probably damaging Het
Ccn5 T C 2: 163,667,279 (GRCm39) probably null Het
Ces2e G T 8: 105,656,543 (GRCm39) V258L probably benign Het
Daam2 A G 17: 49,766,085 (GRCm39) F1041S probably benign Het
Dcstamp A G 15: 39,617,932 (GRCm39) I114V probably benign Het
Ddhd2 C T 8: 26,229,587 (GRCm39) R496Q probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Eml6 T A 11: 29,714,126 (GRCm39) R1335S probably benign Het
F12 T C 13: 55,569,872 (GRCm39) N102S probably benign Het
Fbn1 G A 2: 125,215,870 (GRCm39) L712F probably benign Het
Fgf1 G T 18: 38,991,657 (GRCm39) F37L probably damaging Het
Fgf14 T A 14: 124,217,867 (GRCm39) H212L probably damaging Het
Gm10036 A T 18: 15,965,858 (GRCm39) Q3L probably benign Het
Hivep1 T C 13: 42,310,126 (GRCm39) F789L possibly damaging Het
Hspg2 C A 4: 137,279,139 (GRCm39) T3074N probably damaging Het
Katnb1 C T 8: 95,824,300 (GRCm39) R495C probably damaging Het
Kdm5b C T 1: 134,515,741 (GRCm39) H122Y probably damaging Het
Ky C T 9: 102,419,274 (GRCm39) S427L probably benign Het
Med9 T G 11: 59,851,486 (GRCm39) V105G probably benign Het
Ndufa11 T A 17: 57,028,059 (GRCm39) V43D probably damaging Het
Nlrp4b T A 7: 10,448,873 (GRCm39) C359S possibly damaging Het
Or12k8 T A 2: 36,974,921 (GRCm39) I280F possibly damaging Het
Or51e1 A T 7: 102,358,900 (GRCm39) K145* probably null Het
Paxbp1 T A 16: 90,827,401 (GRCm39) Y478F possibly damaging Het
Pole G A 5: 110,480,332 (GRCm39) E92K probably benign Het
Prom1 G T 5: 44,184,110 (GRCm39) L449M probably damaging Het
Psg28 G A 7: 18,164,373 (GRCm39) T113I probably benign Het
Reln A C 5: 22,137,713 (GRCm39) V2493G possibly damaging Het
Rp1 C T 1: 4,416,055 (GRCm39) V1686I probably benign Het
Setbp1 T C 18: 79,129,867 (GRCm39) I122V probably damaging Het
Setd5 T C 6: 113,098,529 (GRCm39) Y721H probably damaging Het
Shroom1 T C 11: 53,354,749 (GRCm39) F223S probably damaging Het
Son T A 16: 91,452,354 (GRCm39) L367Q probably damaging Het
Spred2 G T 11: 19,971,301 (GRCm39) D363Y probably damaging Het
Tbc1d8 T G 1: 39,411,836 (GRCm39) Y1000S probably benign Het
Tdp2 A T 13: 25,022,219 (GRCm39) K213* probably null Het
Tmem89 T C 9: 108,744,545 (GRCm39) I146T probably damaging Het
Vhl T C 6: 113,606,424 (GRCm39) V147A probably benign Het
Vmn2r23 C T 6: 123,690,410 (GRCm39) L429F probably benign Het
Vrk2 T C 11: 26,449,036 (GRCm39) D186G probably damaging Het
Zfp266 A G 9: 20,418,030 (GRCm39) S7P probably damaging Het
Zfp472 T A 17: 33,197,407 (GRCm39) I494K possibly damaging Het
Zfp655 A G 5: 145,181,546 (GRCm39) E468G probably damaging Het
Other mutations in Zbtb40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Zbtb40 APN 4 136,714,651 (GRCm39) missense probably damaging 0.99
IGL00573:Zbtb40 APN 4 136,745,389 (GRCm39) missense probably benign 0.00
IGL00774:Zbtb40 APN 4 136,721,835 (GRCm39) missense probably damaging 1.00
R0046:Zbtb40 UTSW 4 136,714,589 (GRCm39) missense probably damaging 1.00
R0046:Zbtb40 UTSW 4 136,714,589 (GRCm39) missense probably damaging 1.00
R0334:Zbtb40 UTSW 4 136,713,867 (GRCm39) missense probably damaging 1.00
R0393:Zbtb40 UTSW 4 136,745,842 (GRCm39) missense probably benign 0.09
R0482:Zbtb40 UTSW 4 136,710,539 (GRCm39) missense probably damaging 1.00
R1457:Zbtb40 UTSW 4 136,712,148 (GRCm39) missense possibly damaging 0.81
R1846:Zbtb40 UTSW 4 136,735,150 (GRCm39) missense probably benign 0.00
R2153:Zbtb40 UTSW 4 136,718,946 (GRCm39) missense probably damaging 1.00
R2206:Zbtb40 UTSW 4 136,744,596 (GRCm39) nonsense probably null
R2291:Zbtb40 UTSW 4 136,712,328 (GRCm39) missense possibly damaging 0.78
R2406:Zbtb40 UTSW 4 136,725,879 (GRCm39) missense probably benign 0.34
R3707:Zbtb40 UTSW 4 136,726,879 (GRCm39) missense probably damaging 1.00
R4131:Zbtb40 UTSW 4 136,722,707 (GRCm39) missense probably benign 0.00
R4243:Zbtb40 UTSW 4 136,745,860 (GRCm39) missense probably benign 0.00
R4424:Zbtb40 UTSW 4 136,726,005 (GRCm39) missense probably damaging 0.96
R4725:Zbtb40 UTSW 4 136,746,072 (GRCm39) utr 5 prime probably benign
R4784:Zbtb40 UTSW 4 136,734,408 (GRCm39) missense probably damaging 1.00
R4795:Zbtb40 UTSW 4 136,725,953 (GRCm39) missense probably benign 0.00
R4796:Zbtb40 UTSW 4 136,725,953 (GRCm39) missense probably benign 0.00
R4838:Zbtb40 UTSW 4 136,728,527 (GRCm39) missense probably benign 0.15
R4859:Zbtb40 UTSW 4 136,716,070 (GRCm39) missense probably damaging 0.98
R4883:Zbtb40 UTSW 4 136,728,241 (GRCm39) missense probably benign 0.09
R5001:Zbtb40 UTSW 4 136,723,461 (GRCm39) missense probably damaging 1.00
R5030:Zbtb40 UTSW 4 136,725,263 (GRCm39) missense probably benign 0.00
R5060:Zbtb40 UTSW 4 136,728,604 (GRCm39) missense possibly damaging 0.71
R5536:Zbtb40 UTSW 4 136,714,642 (GRCm39) missense probably damaging 1.00
R5589:Zbtb40 UTSW 4 136,722,594 (GRCm39) missense probably damaging 1.00
R6114:Zbtb40 UTSW 4 136,716,002 (GRCm39) missense probably damaging 1.00
R6393:Zbtb40 UTSW 4 136,712,177 (GRCm39) missense probably null
R7208:Zbtb40 UTSW 4 136,726,937 (GRCm39) splice site probably null
R7406:Zbtb40 UTSW 4 136,728,205 (GRCm39) missense probably benign 0.29
R7722:Zbtb40 UTSW 4 136,718,829 (GRCm39) missense probably damaging 0.98
R7803:Zbtb40 UTSW 4 136,744,638 (GRCm39) missense probably benign
R8292:Zbtb40 UTSW 4 136,726,878 (GRCm39) missense probably damaging 1.00
R8735:Zbtb40 UTSW 4 136,725,957 (GRCm39) missense probably damaging 1.00
R8890:Zbtb40 UTSW 4 136,725,897 (GRCm39) missense probably damaging 1.00
R9003:Zbtb40 UTSW 4 136,745,904 (GRCm39) missense probably damaging 1.00
R9290:Zbtb40 UTSW 4 136,745,529 (GRCm39) missense probably benign 0.00
R9328:Zbtb40 UTSW 4 136,745,620 (GRCm39) missense probably benign 0.00
RF014:Zbtb40 UTSW 4 136,744,617 (GRCm39) missense probably benign 0.20
Z1176:Zbtb40 UTSW 4 136,722,774 (GRCm39) missense probably damaging 1.00
Z1177:Zbtb40 UTSW 4 136,745,335 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTTCAAGTGAGAGCACCAGGG -3'
(R):5'- AGTAATTGCTCTCCTCGGGTG -3'

Sequencing Primer
(F):5'- TCAGCCGAGCAGCTAGAG -3'
(R):5'- GTAATTGCTCTCCTCGGGTGAAAAC -3'
Posted On 2016-10-06