Incidental Mutation 'R4557:Zbtb44'
ID 341908
Institutional Source Beutler Lab
Gene Symbol Zbtb44
Ensembl Gene ENSMUSG00000047412
Gene Name zinc finger and BTB domain containing 44
Synonyms Btbd15, 6030404E16Rik
MMRRC Submission 041784-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.482) question?
Stock # R4557 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 30941940-30987181 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 30975544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 391 (S391R)
Ref Sequence ENSEMBL: ENSMUSP00000149969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115222] [ENSMUST00000167346] [ENSMUST00000216649] [ENSMUST00000217092]
AlphaFold Q8R0A2
Predicted Effect possibly damaging
Transcript: ENSMUST00000115222
AA Change: S391R

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110877
Gene: ENSMUSG00000047412
AA Change: S391R

DomainStartEndE-ValueType
BTB 31 128 3.58e-26 SMART
low complexity region 304 318 N/A INTRINSIC
ZnF_C2H2 399 421 2.43e-4 SMART
ZnF_C2H2 427 449 3.11e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167346
AA Change: S373R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133109
Gene: ENSMUSG00000047412
AA Change: S373R

DomainStartEndE-ValueType
BTB 31 128 3.58e-26 SMART
low complexity region 304 318 N/A INTRINSIC
ZnF_C2H2 381 403 2.43e-4 SMART
ZnF_C2H2 409 431 3.11e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000214585
AA Change: S369R
Predicted Effect probably damaging
Transcript: ENSMUST00000216649
AA Change: S373R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000217092
AA Change: S391R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.1332 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830005F24Rik T C 13: 48,667,937 (GRCm39) probably benign Het
Acad11 T C 9: 103,960,038 (GRCm39) F219L probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adamts17 A T 7: 66,677,641 (GRCm39) E518D probably damaging Het
Adamts3 A G 5: 89,848,346 (GRCm39) Y659H probably benign Het
Adgrb3 T C 1: 25,123,360 (GRCm39) R1414G probably damaging Het
Apba1 T A 19: 23,894,956 (GRCm39) I464N probably damaging Het
Bahcc1 A G 11: 120,165,914 (GRCm39) T1057A probably damaging Het
Bcl11a A G 11: 24,114,004 (GRCm39) E449G probably damaging Het
Ccdc162 T A 10: 41,463,384 (GRCm39) I1453L probably benign Het
Ccdc175 T A 12: 72,175,080 (GRCm39) E531V probably benign Het
Cep68 A T 11: 20,189,113 (GRCm39) probably benign Het
Dlgap1 C A 17: 70,823,684 (GRCm39) T223K probably benign Het
Exoc1 G A 5: 76,709,290 (GRCm39) V24M probably damaging Het
Fbxo4 A G 15: 3,995,187 (GRCm39) *386R probably null Het
Gm10100 G A 10: 77,562,365 (GRCm39) probably benign Het
Gpr149 A G 3: 62,438,291 (GRCm39) V622A probably damaging Het
Gpr149 A C 3: 62,511,918 (GRCm39) M27R probably benign Het
Ighv3-6 T C 12: 114,251,818 (GRCm39) N101D probably benign Het
Igkv4-78 A G 6: 69,036,755 (GRCm39) S93P possibly damaging Het
Kmt2c A T 5: 25,505,313 (GRCm39) W3332R probably damaging Het
Marf1 T C 16: 13,971,841 (GRCm39) probably benign Het
Mcrs1 A G 15: 99,141,028 (GRCm39) I459T probably benign Het
Mdn1 G T 4: 32,754,437 (GRCm39) C4646F probably damaging Het
Med17 T C 9: 15,182,993 (GRCm39) K351E possibly damaging Het
Nalcn T C 14: 123,558,647 (GRCm39) probably benign Het
Or14j8 C A 17: 38,263,142 (GRCm39) A258S probably benign Het
Or1e29 G A 11: 73,667,307 (GRCm39) T282I possibly damaging Het
Or1r1 A T 11: 73,875,425 (GRCm39) V3E probably benign Het
Or6c69 A G 10: 129,747,398 (GRCm39) Y250H probably damaging Het
Phrf1 C T 7: 140,838,842 (GRCm39) probably benign Het
Pitpnm1 A G 19: 4,153,085 (GRCm39) Q135R probably benign Het
Prdm16 T A 4: 154,613,284 (GRCm39) M48L probably benign Het
Ptpn13 A G 5: 103,688,976 (GRCm39) E923G probably damaging Het
Rp1 A T 1: 4,414,886 (GRCm39) S2075R possibly damaging Het
Sft2d2 A G 1: 165,011,553 (GRCm39) C114R probably damaging Het
Sipa1l2 T G 8: 126,191,154 (GRCm39) R945S probably damaging Het
Slc12a1 A G 2: 125,028,561 (GRCm39) N517S probably damaging Het
Slc44a2 T G 9: 21,258,079 (GRCm39) L443R possibly damaging Het
Smok4a T C 17: 13,746,643 (GRCm39) noncoding transcript Het
Snx18 A G 13: 113,754,364 (GRCm39) S190P probably damaging Het
Thap12 A G 7: 98,365,052 (GRCm39) N407D probably benign Het
Tmc5 T C 7: 118,269,956 (GRCm39) I902T probably benign Het
Ttc27 T G 17: 75,136,544 (GRCm39) S584A probably benign Het
Ttn A T 2: 76,779,359 (GRCm39) Y1174N probably damaging Het
Other mutations in Zbtb44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Zbtb44 APN 9 30,965,606 (GRCm39) missense possibly damaging 0.78
IGL01464:Zbtb44 APN 9 30,965,580 (GRCm39) missense probably damaging 1.00
IGL02162:Zbtb44 APN 9 30,964,688 (GRCm39) missense probably benign 0.00
IGL03295:Zbtb44 APN 9 30,964,753 (GRCm39) missense probably benign 0.00
IGL03412:Zbtb44 APN 9 30,964,763 (GRCm39) missense probably benign 0.08
R0137:Zbtb44 UTSW 9 30,978,006 (GRCm39) missense probably damaging 1.00
R2182:Zbtb44 UTSW 9 30,977,972 (GRCm39) missense possibly damaging 0.94
R2511:Zbtb44 UTSW 9 30,965,539 (GRCm39) missense probably damaging 0.99
R4501:Zbtb44 UTSW 9 30,965,462 (GRCm39) missense probably damaging 1.00
R4841:Zbtb44 UTSW 9 30,964,701 (GRCm39) missense probably damaging 1.00
R5391:Zbtb44 UTSW 9 30,964,601 (GRCm39) splice site probably null
R5639:Zbtb44 UTSW 9 30,965,348 (GRCm39) missense probably damaging 0.98
R6001:Zbtb44 UTSW 9 30,965,090 (GRCm39) missense probably damaging 1.00
R6170:Zbtb44 UTSW 9 30,964,678 (GRCm39) missense probably damaging 1.00
R6415:Zbtb44 UTSW 9 30,975,510 (GRCm39) missense possibly damaging 0.93
R7658:Zbtb44 UTSW 9 30,965,375 (GRCm39) missense probably benign 0.00
R7913:Zbtb44 UTSW 9 30,965,504 (GRCm39) nonsense probably null
R9155:Zbtb44 UTSW 9 30,965,309 (GRCm39) missense probably benign
R9226:Zbtb44 UTSW 9 30,975,524 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TGTCCACACTAAAGATGCTGGAC -3'
(R):5'- CAGGATTGCAAAGCACAACG -3'

Sequencing Primer
(F):5'- CCACACTAAAGATGCTGGACATTTAG -3'
(R):5'- TCTGAATACGGGTGAAGC -3'
Posted On 2015-09-24