Incidental Mutation 'R1276:Zbtb4'
ID 150901
Institutional Source Beutler Lab
Gene Symbol Zbtb4
Ensembl Gene ENSMUSG00000018750
Gene Name zinc finger and BTB domain containing 4
Synonyms 9230111I22Rik, 2310026P19Rik
MMRRC Submission 039342-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1276 (G1)
Quality Score 208
Status Not validated
Chromosome 11
Chromosomal Location 69656738-69674849 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 69667045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 117 (D117Y)
Ref Sequence ENSEMBL: ENSMUSP00000104280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108638] [ENSMUST00000108639] [ENSMUST00000108640] [ENSMUST00000108642] [ENSMUST00000132528] [ENSMUST00000153943] [ENSMUST00000156932]
AlphaFold Q5F293
Predicted Effect probably damaging
Transcript: ENSMUST00000108638
AA Change: D117Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104278
Gene: ENSMUSG00000018750
AA Change: D117Y

DomainStartEndE-ValueType
BTB 30 166 2e-15 SMART
ZnF_C2H2 210 230 1.91e1 SMART
low complexity region 240 261 N/A INTRINSIC
low complexity region 274 283 N/A INTRINSIC
ZnF_C2H2 285 307 1.53e-1 SMART
ZnF_C2H2 313 335 1.91e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108639
AA Change: D117Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104279
Gene: ENSMUSG00000018750
AA Change: D117Y

DomainStartEndE-ValueType
BTB 30 166 2e-15 SMART
ZnF_C2H2 210 230 1.91e1 SMART
low complexity region 240 261 N/A INTRINSIC
low complexity region 274 283 N/A INTRINSIC
ZnF_C2H2 285 307 1.53e-1 SMART
ZnF_C2H2 313 335 1.91e1 SMART
ZnF_C2H2 341 364 5.81e-2 SMART
low complexity region 422 445 N/A INTRINSIC
low complexity region 461 482 N/A INTRINSIC
low complexity region 485 532 N/A INTRINSIC
low complexity region 551 568 N/A INTRINSIC
coiled coil region 601 637 N/A INTRINSIC
low complexity region 650 662 N/A INTRINSIC
low complexity region 664 673 N/A INTRINSIC
ZnF_C2H2 700 722 3.78e-1 SMART
ZnF_C2H2 739 761 6.23e-2 SMART
low complexity region 799 820 N/A INTRINSIC
low complexity region 947 961 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108640
AA Change: D117Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104280
Gene: ENSMUSG00000018750
AA Change: D117Y

DomainStartEndE-ValueType
BTB 30 166 2e-15 SMART
ZnF_C2H2 210 230 1.91e1 SMART
low complexity region 240 261 N/A INTRINSIC
low complexity region 274 283 N/A INTRINSIC
ZnF_C2H2 285 307 1.53e-1 SMART
ZnF_C2H2 313 335 1.91e1 SMART
ZnF_C2H2 341 364 5.81e-2 SMART
low complexity region 422 445 N/A INTRINSIC
low complexity region 461 482 N/A INTRINSIC
low complexity region 485 532 N/A INTRINSIC
low complexity region 551 568 N/A INTRINSIC
coiled coil region 601 637 N/A INTRINSIC
low complexity region 650 662 N/A INTRINSIC
low complexity region 664 673 N/A INTRINSIC
ZnF_C2H2 700 722 3.78e-1 SMART
ZnF_C2H2 739 761 6.23e-2 SMART
low complexity region 799 820 N/A INTRINSIC
low complexity region 947 961 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108642
AA Change: D117Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104282
Gene: ENSMUSG00000018750
AA Change: D117Y

DomainStartEndE-ValueType
BTB 30 166 2e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132528
SMART Domains Protein: ENSMUSP00000121694
Gene: ENSMUSG00000018750

DomainStartEndE-ValueType
Pfam:BTB 20 56 6.6e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153943
SMART Domains Protein: ENSMUSP00000118027
Gene: ENSMUSG00000018750

DomainStartEndE-ValueType
Pfam:BTB 20 51 5.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156932
SMART Domains Protein: ENSMUSP00000115687
Gene: ENSMUSG00000018750

DomainStartEndE-ValueType
Pfam:BTB 20 51 6e-8 PFAM
low complexity region 68 85 N/A INTRINSIC
low complexity region 123 136 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 C A 8: 27,609,852 (GRCm39) A660D probably damaging Het
Ccdc82 A T 9: 13,281,903 (GRCm39) I443F probably benign Het
Cct4 C T 11: 22,952,171 (GRCm39) L391F probably damaging Het
Cep63 A T 9: 102,466,099 (GRCm39) D642E possibly damaging Het
Chd5 T A 4: 152,463,191 (GRCm39) L1424Q probably damaging Het
Cox4i1 A G 8: 121,400,089 (GRCm39) Y71C probably damaging Het
Cyp2c69 T A 19: 39,864,668 (GRCm39) Q270L possibly damaging Het
Egln2 TTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTG 7: 26,864,430 (GRCm39) probably benign Het
Fbln1 A G 15: 85,113,791 (GRCm39) D175G probably damaging Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Gm9847 A G 12: 14,544,932 (GRCm39) noncoding transcript Het
Hdlbp A T 1: 93,348,823 (GRCm39) S576T probably benign Het
Hmgxb3 T C 18: 61,298,576 (GRCm39) N296S probably benign Het
Lrba T A 3: 86,571,833 (GRCm39) V2379E probably damaging Het
Lrp1b A T 2: 41,618,588 (GRCm39) I162N probably benign Het
Mydgf A G 17: 56,486,362 (GRCm39) probably null Het
Sh3pxd2a T C 19: 47,256,822 (GRCm39) D632G probably benign Het
Ska3 T C 14: 58,057,726 (GRCm39) M209V probably damaging Het
Slc4a10 A G 2: 62,080,787 (GRCm39) E308G probably damaging Het
Srsf4 C T 4: 131,624,996 (GRCm39) T131M probably damaging Het
Suco A T 1: 161,685,025 (GRCm39) S156T probably benign Het
Svs5 T A 2: 164,079,168 (GRCm39) Q246H possibly damaging Het
Syne2 A G 12: 75,987,963 (GRCm39) probably null Het
Tbc1d9b T A 11: 50,043,476 (GRCm39) H532Q possibly damaging Het
Tcf21 G A 10: 22,695,489 (GRCm39) T105I probably damaging Het
Thsd7a C A 6: 12,418,369 (GRCm39) C620F probably damaging Het
Vmn1r194 A G 13: 22,429,031 (GRCm39) Y216C probably damaging Het
Vmn2r94 T C 17: 18,477,344 (GRCm39) S356G possibly damaging Het
Wasf1 T A 10: 40,812,522 (GRCm39) I437N unknown Het
Wdr24 A G 17: 26,046,441 (GRCm39) Y538C probably benign Het
Zfp654 A T 16: 64,605,699 (GRCm39) F293L probably damaging Het
Zkscan7 A G 9: 122,719,788 (GRCm39) E158G probably damaging Het
Other mutations in Zbtb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Zbtb4 APN 11 69,667,557 (GRCm39) nonsense probably null
IGL02178:Zbtb4 APN 11 69,667,255 (GRCm39) nonsense probably null
R0092:Zbtb4 UTSW 11 69,670,177 (GRCm39) missense probably benign
R0403:Zbtb4 UTSW 11 69,668,465 (GRCm39) missense probably damaging 0.99
R1654:Zbtb4 UTSW 11 69,669,995 (GRCm39) missense probably damaging 0.98
R1734:Zbtb4 UTSW 11 69,667,289 (GRCm39) missense probably benign 0.13
R1762:Zbtb4 UTSW 11 69,669,743 (GRCm39) missense probably benign 0.03
R2224:Zbtb4 UTSW 11 69,667,184 (GRCm39) missense probably benign 0.43
R2930:Zbtb4 UTSW 11 69,667,342 (GRCm39) nonsense probably null
R4670:Zbtb4 UTSW 11 69,667,355 (GRCm39) missense probably damaging 0.97
R4998:Zbtb4 UTSW 11 69,669,497 (GRCm39) missense probably benign 0.31
R5956:Zbtb4 UTSW 11 69,669,040 (GRCm39) missense probably benign 0.29
R5988:Zbtb4 UTSW 11 69,669,790 (GRCm39) missense probably damaging 1.00
R6115:Zbtb4 UTSW 11 69,667,148 (GRCm39) missense probably damaging 1.00
R6237:Zbtb4 UTSW 11 69,669,069 (GRCm39) missense possibly damaging 0.70
R6803:Zbtb4 UTSW 11 69,669,454 (GRCm39) missense possibly damaging 0.92
R7395:Zbtb4 UTSW 11 69,666,937 (GRCm39) missense possibly damaging 0.58
R7756:Zbtb4 UTSW 11 69,669,368 (GRCm39) missense probably benign 0.27
R7758:Zbtb4 UTSW 11 69,669,368 (GRCm39) missense probably benign 0.27
R7877:Zbtb4 UTSW 11 69,666,863 (GRCm39) missense probably benign 0.39
R8215:Zbtb4 UTSW 11 69,669,598 (GRCm39) missense probably benign 0.00
R8306:Zbtb4 UTSW 11 69,668,309 (GRCm39) missense probably damaging 1.00
R8407:Zbtb4 UTSW 11 69,669,101 (GRCm39) missense probably benign 0.00
R8690:Zbtb4 UTSW 11 69,667,618 (GRCm39) missense probably damaging 1.00
R8785:Zbtb4 UTSW 11 69,668,989 (GRCm39) missense possibly damaging 0.48
R9032:Zbtb4 UTSW 11 69,672,650 (GRCm39) missense probably benign
R9674:Zbtb4 UTSW 11 69,669,973 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGAGAAGCCCTACTAGCTTCAGCC -3'
(R):5'- TACATTGCTGTGCCGCTTCAGG -3'

Sequencing Primer
(F):5'- ACTAGCTTCAGCCCCACTG -3'
(R):5'- TTTTCCACATCGAGGGCAAG -3'
Posted On 2014-01-29