Incidental Mutation 'R5542:Zbtb5'
ID 436013
Institutional Source Beutler Lab
Gene Symbol Zbtb5
Ensembl Gene ENSMUSG00000049657
Gene Name zinc finger and BTB domain containing 5
Synonyms 9430083K24Rik
MMRRC Submission 043100-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5542 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 44991242-45012412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44995052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 111 (V111F)
Ref Sequence ENSEMBL: ENSMUSP00000136507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045078] [ENSMUST00000055028] [ENSMUST00000107817] [ENSMUST00000131991] [ENSMUST00000180217]
AlphaFold Q7TQG0
Predicted Effect probably benign
Transcript: ENSMUST00000045078
SMART Domains Protein: ENSMUSP00000047218
Gene: ENSMUSG00000035637

DomainStartEndE-ValueType
Pfam:2-Hacid_dh 9 327 1.4e-28 PFAM
Pfam:2-Hacid_dh_C 116 295 1.3e-59 PFAM
Pfam:NAD_binding_2 153 272 3.4e-8 PFAM
Pfam:F420_oxidored 155 244 3.2e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000055028
AA Change: V111F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059919
Gene: ENSMUSG00000049657
AA Change: V111F

DomainStartEndE-ValueType
BTB 24 123 1.06e-28 SMART
low complexity region 149 163 N/A INTRINSIC
low complexity region 345 361 N/A INTRINSIC
low complexity region 369 380 N/A INTRINSIC
low complexity region 444 459 N/A INTRINSIC
low complexity region 544 554 N/A INTRINSIC
ZnF_C2H2 606 628 1.16e-1 SMART
ZnF_C2H2 634 654 2.47e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107817
AA Change: V111F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103447
Gene: ENSMUSG00000049657
AA Change: V111F

DomainStartEndE-ValueType
BTB 24 123 1.06e-28 SMART
low complexity region 149 163 N/A INTRINSIC
low complexity region 345 361 N/A INTRINSIC
low complexity region 369 380 N/A INTRINSIC
low complexity region 444 459 N/A INTRINSIC
low complexity region 544 554 N/A INTRINSIC
ZnF_C2H2 606 628 1.16e-1 SMART
ZnF_C2H2 634 654 2.47e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000131991
AA Change: V111F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122991
Gene: ENSMUSG00000049657
AA Change: V111F

DomainStartEndE-ValueType
BTB 24 123 1.06e-28 SMART
low complexity region 149 163 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000180217
AA Change: V111F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136507
Gene: ENSMUSG00000049657
AA Change: V111F

DomainStartEndE-ValueType
BTB 24 123 1.06e-28 SMART
low complexity region 149 163 N/A INTRINSIC
low complexity region 345 361 N/A INTRINSIC
low complexity region 369 380 N/A INTRINSIC
low complexity region 444 459 N/A INTRINSIC
low complexity region 544 554 N/A INTRINSIC
ZnF_C2H2 606 628 1.16e-1 SMART
ZnF_C2H2 634 654 2.47e1 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 C T 3: 59,932,484 (GRCm39) T333I probably damaging Het
Acacb C T 5: 114,333,798 (GRCm39) R574C probably damaging Het
Actr10 T C 12: 71,001,430 (GRCm39) probably benign Het
Ankdd1a T A 9: 65,411,472 (GRCm39) probably null Het
Anks4b C T 7: 119,781,646 (GRCm39) Q226* probably null Het
AW146154 C A 7: 41,130,801 (GRCm39) G105V probably benign Het
Cdh4 T A 2: 179,502,019 (GRCm39) N326K probably damaging Het
Cnbd1 T C 4: 18,860,517 (GRCm39) T410A possibly damaging Het
Cndp2 A T 18: 84,690,201 (GRCm39) M247K probably damaging Het
Crx G A 7: 15,602,262 (GRCm39) R139C probably damaging Het
Ctrc A G 4: 141,571,037 (GRCm39) Y68H probably damaging Het
Ddx4 T C 13: 112,757,779 (GRCm39) D326G probably damaging Het
Edem1 C T 6: 108,831,290 (GRCm39) R584C possibly damaging Het
Emcn A G 3: 137,085,638 (GRCm39) T79A probably benign Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
Fbrsl1 C T 5: 110,526,307 (GRCm39) G437R probably damaging Het
Fbxo7 A C 10: 85,869,149 (GRCm39) Q201P probably benign Het
Fbxo9 T C 9: 78,008,938 (GRCm39) M12V possibly damaging Het
Fcgbpl1 A T 7: 27,854,914 (GRCm39) I1847F probably damaging Het
Flii A G 11: 60,609,688 (GRCm39) S640P probably benign Het
Fsip2 A T 2: 82,812,207 (GRCm39) N2842I possibly damaging Het
Fst G T 13: 114,592,241 (GRCm39) Q159K probably damaging Het
Fuom A T 7: 139,680,025 (GRCm39) *109R probably null Het
Hhipl2 A G 1: 183,214,055 (GRCm39) D377G probably damaging Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Ighm A G 12: 113,382,601 (GRCm39) probably benign Het
Ighv1-85 T A 12: 115,963,847 (GRCm39) Y51F probably benign Het
Ighv2-3 A T 12: 113,574,833 (GRCm39) D107E probably benign Het
Ighv2-6-8 T A 12: 113,760,187 (GRCm39) M1L probably benign Het
Ipo5 T C 14: 121,163,683 (GRCm39) V247A probably benign Het
Itga9 T C 9: 118,672,729 (GRCm39) F154L possibly damaging Het
Itprid1 C A 6: 55,955,380 (GRCm39) P996Q probably damaging Het
Knl1 T A 2: 118,898,829 (GRCm39) C177S possibly damaging Het
Lrrc17 G A 5: 21,780,156 (GRCm39) G377S probably damaging Het
Marveld3 A T 8: 110,675,249 (GRCm39) I189K probably benign Het
Msantd2 G A 9: 37,428,555 (GRCm39) G185R probably damaging Het
Mtcl1 G A 17: 66,691,354 (GRCm39) probably benign Het
Muc21 T C 17: 35,933,395 (GRCm39) probably benign Het
Mycbpap A T 11: 94,398,572 (GRCm39) probably null Het
Nbeal1 A G 1: 60,316,353 (GRCm39) D1852G probably benign Het
Ndc80 A T 17: 71,807,276 (GRCm39) V560D probably benign Het
Nscme3l A T 19: 5,553,463 (GRCm39) V106D probably damaging Het
Or1e25 T A 11: 73,494,030 (GRCm39) V208E possibly damaging Het
Or2t48 A C 11: 58,420,710 (GRCm39) V34G probably benign Het
Or56a3 A T 7: 104,735,565 (GRCm39) D214V probably damaging Het
Or6a2 A T 7: 106,600,286 (GRCm39) S260R probably damaging Het
Or9i1b T C 19: 13,896,411 (GRCm39) V9A probably benign Het
Pcdhga4 A T 18: 37,819,651 (GRCm39) Y400F probably damaging Het
Pkd2 A G 5: 104,634,515 (GRCm39) silent Het
Plxna4 T A 6: 32,183,165 (GRCm39) I913F probably damaging Het
Psmc1 T C 12: 100,086,399 (GRCm39) probably null Het
Robo2 G A 16: 73,695,853 (GRCm39) T1430I probably benign Het
Safb2 G A 17: 56,882,647 (GRCm39) R329C probably damaging Het
Septin14 T C 5: 129,774,926 (GRCm39) H83R probably damaging Het
Slc16a10 A G 10: 39,952,784 (GRCm39) F237L probably benign Het
Slc37a1 A T 17: 31,559,236 (GRCm39) T439S probably damaging Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Smyd3 A T 1: 179,238,024 (GRCm39) D114E probably benign Het
Sned1 T C 1: 93,199,324 (GRCm39) I468T probably benign Het
Speer4a1 T A 5: 26,241,736 (GRCm39) N130I probably damaging Het
Tdrd7 T C 4: 46,029,757 (GRCm39) V1030A probably benign Het
Trip12 A T 1: 84,727,065 (GRCm39) D1135E probably damaging Het
Tsga10 T A 1: 37,800,598 (GRCm39) D542V probably damaging Het
Ubqlnl G A 7: 103,798,904 (GRCm39) Q198* probably null Het
Unc93a2 A T 17: 7,637,187 (GRCm39) C334S probably benign Het
Usp46 A T 5: 74,189,902 (GRCm39) M43K probably benign Het
Vmn1r175 A T 7: 23,508,531 (GRCm39) I32N possibly damaging Het
Vmn1r29 C T 6: 58,285,108 (GRCm39) T276I probably benign Het
Vmn1r81 A T 7: 11,994,034 (GRCm39) D191E probably damaging Het
Zfp12 C T 5: 143,230,240 (GRCm39) P189L possibly damaging Het
Zfp729b A G 13: 67,739,140 (GRCm39) F1042L probably benign Het
Other mutations in Zbtb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01995:Zbtb5 APN 4 44,995,294 (GRCm39) missense probably damaging 1.00
IGL02516:Zbtb5 APN 4 44,993,798 (GRCm39) missense probably damaging 0.96
IGL02525:Zbtb5 APN 4 44,994,731 (GRCm39) missense probably benign
IGL03172:Zbtb5 APN 4 44,994,003 (GRCm39) missense possibly damaging 0.76
IGL03205:Zbtb5 APN 4 44,994,949 (GRCm39) missense probably damaging 0.96
madeleine UTSW 4 44,994,863 (GRCm39) splice site probably null
R0681:Zbtb5 UTSW 4 44,993,787 (GRCm39) missense probably damaging 1.00
R1426:Zbtb5 UTSW 4 44,993,968 (GRCm39) missense possibly damaging 0.95
R1577:Zbtb5 UTSW 4 44,995,129 (GRCm39) missense probably damaging 1.00
R1608:Zbtb5 UTSW 4 44,993,500 (GRCm39) missense probably damaging 1.00
R1817:Zbtb5 UTSW 4 44,993,767 (GRCm39) missense probably benign 0.20
R2919:Zbtb5 UTSW 4 44,994,790 (GRCm39) missense probably damaging 1.00
R3722:Zbtb5 UTSW 4 44,994,863 (GRCm39) splice site probably null
R4222:Zbtb5 UTSW 4 44,993,855 (GRCm39) splice site probably null
R5217:Zbtb5 UTSW 4 44,993,990 (GRCm39) missense probably benign
R5326:Zbtb5 UTSW 4 44,995,052 (GRCm39) missense probably damaging 1.00
R5493:Zbtb5 UTSW 4 44,993,941 (GRCm39) missense probably benign 0.04
R5912:Zbtb5 UTSW 4 44,993,750 (GRCm39) missense probably benign 0.00
R6171:Zbtb5 UTSW 4 44,994,119 (GRCm39) missense probably benign 0.00
R6337:Zbtb5 UTSW 4 44,993,459 (GRCm39) missense probably damaging 1.00
R6566:Zbtb5 UTSW 4 44,994,508 (GRCm39) missense probably damaging 1.00
R7481:Zbtb5 UTSW 4 44,994,905 (GRCm39) missense probably benign 0.27
R7534:Zbtb5 UTSW 4 44,995,030 (GRCm39) missense probably damaging 1.00
R7548:Zbtb5 UTSW 4 44,994,724 (GRCm39) missense probably benign 0.18
R7557:Zbtb5 UTSW 4 44,995,196 (GRCm39) missense probably damaging 1.00
R7584:Zbtb5 UTSW 4 44,993,678 (GRCm39) missense probably benign
R7831:Zbtb5 UTSW 4 44,995,244 (GRCm39) missense probably damaging 1.00
R8065:Zbtb5 UTSW 4 44,994,972 (GRCm39) missense probably benign 0.25
R8067:Zbtb5 UTSW 4 44,994,972 (GRCm39) missense probably benign 0.25
R8491:Zbtb5 UTSW 4 44,995,090 (GRCm39) missense probably damaging 1.00
R8932:Zbtb5 UTSW 4 44,993,962 (GRCm39) missense probably benign
R9509:Zbtb5 UTSW 4 44,994,332 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ATGGATGAGCTCATAGGGGC -3'
(R):5'- GGGAACAGGCATTTCAAAGCC -3'

Sequencing Primer
(F):5'- AGCTCATAGGGGCTGTCG -3'
(R):5'- AGTACGCATTTCCGAGCACTG -3'
Posted On 2016-10-24