Incidental Mutation 'R7481:Zbtb5'
ID 579792
Institutional Source Beutler Lab
Gene Symbol Zbtb5
Ensembl Gene ENSMUSG00000049657
Gene Name zinc finger and BTB domain containing 5
Synonyms 9430083K24Rik
MMRRC Submission 045555-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7481 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 44991242-45012412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44994905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 160 (S160P)
Ref Sequence ENSEMBL: ENSMUSP00000059919 (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 benign
Transcript: ENSMUST00000055028
AA Change: S160P

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000059919
Gene: ENSMUSG00000049657
AA Change: S160P

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 benign
Transcript: ENSMUST00000107817
AA Change: S160P

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103447
Gene: ENSMUSG00000049657
AA Change: S160P

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 benign
Transcript: ENSMUST00000131991
AA Change: S160P

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122991
Gene: ENSMUSG00000049657
AA Change: S160P

DomainStartEndE-ValueType
BTB 24 123 1.06e-28 SMART
low complexity region 149 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000180217
AA Change: S160P

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000136507
Gene: ENSMUSG00000049657
AA Change: S160P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,575 (GRCm39) F68S unknown Het
Abcb6 A G 1: 75,150,248 (GRCm39) F637L probably damaging Het
Aldh3b3 A G 19: 4,014,549 (GRCm39) M95V probably benign Het
Arhgap45 A T 10: 79,858,134 (GRCm39) H387L possibly damaging Het
Avil C T 10: 126,843,460 (GRCm39) T130I probably benign Het
Bmal2 G A 6: 146,720,369 (GRCm39) A178T not run Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C3 C A 17: 57,527,136 (GRCm39) W771L probably damaging Het
C6 A G 15: 4,844,357 (GRCm39) I926M Het
Cacna1b G A 2: 24,506,874 (GRCm39) L1903F probably damaging Het
Car3 A T 3: 14,928,632 (GRCm39) M1L probably benign Het
Ccdc175 A G 12: 72,202,398 (GRCm39) I299T probably benign Het
Chd9 C T 8: 91,683,066 (GRCm39) T502I unknown Het
Clec4a1 G A 6: 122,904,998 (GRCm39) C99Y probably damaging Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dmbt1 A T 7: 130,681,241 (GRCm39) probably null Het
Dop1a A T 9: 86,417,985 (GRCm39) K1951N probably damaging Het
Dpf3 A C 12: 83,378,701 (GRCm39) L122R probably damaging Het
Edem3 A T 1: 151,683,973 (GRCm39) S687C probably damaging Het
Edem3 G A 1: 151,683,974 (GRCm39) S687N possibly damaging Het
Fig4 A G 10: 41,106,001 (GRCm39) probably null Het
Fmnl2 A G 2: 52,998,443 (GRCm39) T603A unknown Het
Frmd6 T A 12: 70,933,829 (GRCm39) L249Q probably damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gm6133 A T 18: 78,393,008 (GRCm39) M1L probably benign Het
Gm9195 G A 14: 72,720,116 (GRCm39) T105I probably benign Het
Hk2 G A 6: 82,737,150 (GRCm39) T54I probably benign Het
Jade1 G A 3: 41,559,125 (GRCm39) G402D probably benign Het
Kmt2a T C 9: 44,720,368 (GRCm39) D3873G unknown Het
Map6 A T 7: 98,918,345 (GRCm39) T373S possibly damaging Het
Megf9 T C 4: 70,351,679 (GRCm39) T481A probably damaging Het
Mtcl3 G T 10: 29,072,519 (GRCm39) V604L probably damaging Het
Mtus1 T A 8: 41,537,652 (GRCm39) K21N probably damaging Het
Muc5b C T 7: 141,414,908 (GRCm39) T2618I unknown Het
Nbas A G 12: 13,406,960 (GRCm39) I852M probably damaging Het
Or14j1 T A 17: 38,146,289 (GRCm39) M133K probably damaging Het
Or4a70 C T 2: 89,324,636 (GRCm39) V7I probably benign Het
Or5b121 A T 19: 13,507,817 (GRCm39) Q304L probably damaging Het
Or5d39 A G 2: 87,980,105 (GRCm39) I86T probably benign Het
Pank4 A G 4: 155,054,495 (GRCm39) N156S probably damaging Het
Pcdhga8 A G 18: 37,860,990 (GRCm39) E682G probably benign Het
Pde10a C A 17: 9,168,262 (GRCm39) D312E possibly damaging Het
Pkhd1l1 A G 15: 44,376,307 (GRCm39) T990A probably benign Het
Rab11fip1 T C 8: 27,646,609 (GRCm39) T156A probably damaging Het
Rhbdd2 T A 5: 135,665,031 (GRCm39) S121T possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Ryr3 C A 2: 112,508,438 (GRCm39) R3418S probably benign Het
Ryr3 C A 2: 112,508,439 (GRCm39) R3418M possibly damaging Het
Sbno2 G A 10: 79,893,333 (GRCm39) P1323S probably benign Het
Sec24d T C 3: 123,144,412 (GRCm39) C630R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Skp2 A T 15: 9,113,905 (GRCm39) V371E probably damaging Het
Strbp A T 2: 37,490,766 (GRCm39) S496R probably benign Het
Stxbp4 G A 11: 90,485,639 (GRCm39) T236I possibly damaging Het
Terf2 C T 8: 107,799,353 (GRCm39) probably null Het
Thnsl1 A T 2: 21,216,599 (GRCm39) T118S probably benign Het
Tlnrd1 A T 7: 83,531,546 (GRCm39) V295E probably damaging Het
Ttll6 A G 11: 96,045,672 (GRCm39) T630A probably benign Het
Usp9y G T Y: 1,432,180 (GRCm39) A435E probably benign Het
Vil1 A C 1: 74,459,058 (GRCm39) R187S probably damaging Het
Vmn2r31 A T 7: 7,387,579 (GRCm39) V664E possibly damaging Het
Wdr17 T C 8: 55,114,371 (GRCm39) I693M probably benign Het
Wdr82 C T 9: 106,053,865 (GRCm39) T72I probably damaging Het
Zfat G A 15: 68,050,715 (GRCm39) Q769* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp937 T A 2: 150,081,266 (GRCm39) I432K probably benign Het
Zglp1 C T 9: 20,973,903 (GRCm39) S261N 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
R5542:Zbtb5 UTSW 4 44,995,052 (GRCm39) missense probably damaging 1.00
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
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'- TGAGAAGAATTCCTCCCGGG -3'
(R):5'- TATTGGCAGCCTCTCACCTG -3'

Sequencing Primer
(F):5'- CTCTCTGGAGTAACATCTGAAATGGC -3'
(R):5'- GCATCTGAACTCCGTTGTTAAGGC -3'
Posted On 2019-10-07