Incidental Mutation 'R6318:Zbtb41'
ID 510257
Institutional Source Beutler Lab
Gene Symbol Zbtb41
Ensembl Gene ENSMUSG00000033964
Gene Name zinc finger and BTB domain containing 41
Synonyms 8430415N23Rik, 9830132G07Rik
MMRRC Submission 044473-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R6318 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 139350026-139380743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139358044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 451 (F451I)
Ref Sequence ENSEMBL: ENSMUSP00000045570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039867] [ENSMUST00000200243]
AlphaFold Q811F1
Predicted Effect possibly damaging
Transcript: ENSMUST00000039867
AA Change: F451I

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000045570
Gene: ENSMUSG00000033964
AA Change: F451I

DomainStartEndE-ValueType
low complexity region 70 81 N/A INTRINSIC
BTB 89 183 7.06e-16 SMART
ZnF_C2H2 208 231 3.78e-1 SMART
low complexity region 234 245 N/A INTRINSIC
low complexity region 265 279 N/A INTRINSIC
low complexity region 301 327 N/A INTRINSIC
ZnF_C2H2 360 382 4.17e-3 SMART
ZnF_C2H2 388 410 8.34e-3 SMART
ZnF_C2H2 421 444 2.67e-1 SMART
ZnF_C2H2 462 484 1.72e-4 SMART
ZnF_C2H2 490 513 1.41e0 SMART
ZnF_C2H2 517 540 1.12e-3 SMART
ZnF_C2H2 546 568 1.36e-2 SMART
ZnF_C2H2 574 596 2.91e-2 SMART
ZnF_C2H2 602 624 7.37e-4 SMART
ZnF_C2H2 630 653 3.39e-3 SMART
ZnF_C2H2 667 689 2.75e-3 SMART
ZnF_C2H2 695 717 3.16e-3 SMART
ZnF_C2H2 723 746 3.34e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199011
Predicted Effect probably benign
Transcript: ENSMUST00000200243
AA Change: F451I

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142797
Gene: ENSMUSG00000033964
AA Change: F451I

DomainStartEndE-ValueType
low complexity region 70 81 N/A INTRINSIC
BTB 89 183 4.7e-18 SMART
ZnF_C2H2 208 231 1.6e-3 SMART
low complexity region 234 245 N/A INTRINSIC
low complexity region 265 279 N/A INTRINSIC
low complexity region 301 327 N/A INTRINSIC
ZnF_C2H2 360 382 1.7e-5 SMART
ZnF_C2H2 388 410 3.5e-5 SMART
ZnF_C2H2 421 444 1.1e-3 SMART
ZnF_C2H2 462 484 7.2e-7 SMART
ZnF_C2H2 490 513 5.9e-3 SMART
ZnF_C2H2 517 540 4.7e-6 SMART
ZnF_C2H2 546 568 5.7e-5 SMART
ZnF_C2H2 574 596 1.3e-4 SMART
ZnF_C2H2 602 624 3e-6 SMART
ZnF_C2H2 630 653 1.5e-5 SMART
Meta Mutation Damage Score 0.1674 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.3%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,270,474 (GRCm39) T13A possibly damaging Het
Abcg4 T C 9: 44,186,645 (GRCm39) T500A probably benign Het
Adcy4 T A 14: 56,006,681 (GRCm39) I1051F probably damaging Het
Adgrg6 A T 10: 14,343,241 (GRCm39) N235K probably benign Het
Aldh3a2 A C 11: 61,153,245 (GRCm39) Y160* probably null Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Armt1 T C 10: 4,400,859 (GRCm39) M202T probably benign Het
Brd2 C A 17: 34,331,872 (GRCm39) V349F probably damaging Het
Btnl10 A T 11: 58,817,691 (GRCm39) probably benign Het
Ccdc178 A G 18: 22,253,591 (GRCm39) V216A possibly damaging Het
Ccdc85c A T 12: 108,240,968 (GRCm39) L142Q unknown Het
Cdc27 A T 11: 104,419,520 (GRCm39) S172T probably damaging Het
Ceacam14 T C 7: 17,548,237 (GRCm39) I109T probably damaging Het
Ces5a C T 8: 94,261,211 (GRCm39) G72E probably damaging Het
Cfb A G 17: 35,080,800 (GRCm39) Y66H possibly damaging Het
Clec14a G A 12: 58,315,001 (GRCm39) P207L probably damaging Het
Clec16a G A 16: 10,448,652 (GRCm39) R599H probably damaging Het
Csmd1 A T 8: 15,953,212 (GRCm39) I3423N probably damaging Het
Cyp4a29 C A 4: 115,107,396 (GRCm39) N243K probably benign Het
Ddx59 T C 1: 136,344,610 (GRCm39) F94L probably damaging Het
Dusp3 A C 11: 101,877,697 (GRCm39) V19G probably benign Het
Fat3 T C 9: 15,828,280 (GRCm39) probably benign Het
Fgfr4 T A 13: 55,313,921 (GRCm39) V545E probably damaging Het
Fxn G T 19: 24,257,790 (GRCm39) A47D probably damaging Het
Gdpgp1 A T 7: 79,888,898 (GRCm39) I310F possibly damaging Het
Gm7210 A T 7: 11,328,040 (GRCm39) noncoding transcript Het
Grm7 G T 6: 111,335,836 (GRCm39) C749F probably damaging Het
Hps4 T G 5: 112,494,495 (GRCm39) V26G probably damaging Het
Igf1r A G 7: 67,814,981 (GRCm39) D294G probably benign Het
Immp1l T C 2: 105,761,172 (GRCm39) F27S probably benign Het
Kcnk3 T A 5: 30,779,930 (GRCm39) C327S probably damaging Het
Kif13a T A 13: 46,968,683 (GRCm39) probably null Het
Krtap5-4 T C 7: 141,857,827 (GRCm39) S166P unknown Het
Lyst G A 13: 13,917,896 (GRCm39) D3319N possibly damaging Het
Malrd1 T G 2: 16,047,078 (GRCm39) S1735A unknown Het
Myh4 A G 11: 67,134,268 (GRCm39) T308A probably benign Het
Myh8 A T 11: 67,190,167 (GRCm39) Q1269L probably benign Het
Myo15b G A 11: 115,781,657 (GRCm39) V1367I probably damaging Het
Nae1 T C 8: 105,250,269 (GRCm39) D208G probably benign Het
Nelfe T A 17: 35,073,432 (GRCm39) V296D probably damaging Het
Nkapd1 T C 9: 50,518,761 (GRCm39) R284G probably benign Het
Npepps A T 11: 97,109,374 (GRCm39) V734E probably damaging Het
Ogdh A G 11: 6,299,390 (GRCm39) N752S probably damaging Het
Or11i1 T C 3: 106,729,503 (GRCm39) D124G probably damaging Het
Or3a1b A T 11: 74,012,547 (GRCm39) Q144L possibly damaging Het
Or5t9 A G 2: 86,659,998 (GRCm39) I301V possibly damaging Het
Or8b1 T C 9: 38,399,673 (GRCm39) M116T probably benign Het
Otof C A 5: 30,571,888 (GRCm39) G171V probably damaging Het
Phtf2 A T 5: 21,006,939 (GRCm39) V208D probably damaging Het
Pkn1 T A 8: 84,410,220 (GRCm39) T340S probably damaging Het
Plcd4 C T 1: 74,602,753 (GRCm39) L668F possibly damaging Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Prss50 A T 9: 110,690,367 (GRCm39) D170V probably damaging Het
Ptprg T C 14: 12,237,118 (GRCm38) V604A probably damaging Het
Rab33b T C 3: 51,400,826 (GRCm39) V100A probably damaging Het
Rbm26 T A 14: 105,368,971 (GRCm39) D736V probably damaging Het
Rela C A 19: 5,696,992 (GRCm39) P400T probably benign Het
Rpusd4 T C 9: 35,179,334 (GRCm39) L50P probably damaging Het
Scn10a A C 9: 119,456,181 (GRCm39) Y1214D probably damaging Het
Sema3c A G 5: 17,877,430 (GRCm39) E179G probably damaging Het
Skint5 T A 4: 113,374,330 (GRCm39) D1253V unknown Het
Sp4 G T 12: 118,201,913 (GRCm39) P771H probably damaging Het
Sphkap T A 1: 83,256,099 (GRCm39) Y263F probably damaging Het
Ssbp1 G A 6: 40,453,687 (GRCm39) V78I probably benign Het
St3gal6 A G 16: 58,306,769 (GRCm39) I87T probably benign Het
Tango6 T A 8: 107,545,129 (GRCm39) D997E probably benign Het
Tpr C T 1: 150,321,639 (GRCm39) P2265S possibly damaging Het
Ttc7b A T 12: 100,291,936 (GRCm39) F212Y probably damaging Het
Ubc A G 5: 125,465,324 (GRCm39) M1T probably null Het
Vill G C 9: 118,892,716 (GRCm39) Q376H probably benign Het
Yes1 T C 5: 32,809,030 (GRCm39) I132T possibly damaging Het
Ythdc2 A G 18: 44,993,444 (GRCm39) T830A probably benign Het
Zfp995 C T 17: 22,099,493 (GRCm39) C247Y probably benign Het
Other mutations in Zbtb41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Zbtb41 APN 1 139,358,062 (GRCm39) missense probably benign 0.01
IGL01796:Zbtb41 APN 1 139,370,621 (GRCm39) missense probably damaging 0.99
IGL01844:Zbtb41 APN 1 139,375,065 (GRCm39) missense probably benign 0.01
IGL02150:Zbtb41 APN 1 139,368,186 (GRCm39) missense possibly damaging 0.73
IGL02346:Zbtb41 APN 1 139,374,838 (GRCm39) missense probably damaging 1.00
IGL03139:Zbtb41 APN 1 139,351,576 (GRCm39) missense probably benign 0.00
IGL03215:Zbtb41 APN 1 139,374,688 (GRCm39) missense probably damaging 1.00
IGL03309:Zbtb41 APN 1 139,359,816 (GRCm39) critical splice donor site probably null
memorialized UTSW 1 139,368,132 (GRCm39) missense probably benign 0.00
Noted UTSW 1 139,366,769 (GRCm39) missense probably damaging 0.99
R7584_zbtb41_939 UTSW 1 139,351,795 (GRCm39) missense probably benign 0.14
unforgotten UTSW 1 139,359,816 (GRCm39) critical splice donor site probably null
R0004:Zbtb41 UTSW 1 139,370,626 (GRCm39) missense possibly damaging 0.90
R0010:Zbtb41 UTSW 1 139,351,268 (GRCm39) missense probably damaging 1.00
R0010:Zbtb41 UTSW 1 139,351,268 (GRCm39) missense probably damaging 1.00
R0048:Zbtb41 UTSW 1 139,369,572 (GRCm39) missense probably damaging 1.00
R0230:Zbtb41 UTSW 1 139,374,673 (GRCm39) missense probably damaging 1.00
R0309:Zbtb41 UTSW 1 139,366,722 (GRCm39) missense probably damaging 0.99
R0458:Zbtb41 UTSW 1 139,351,214 (GRCm39) missense probably damaging 1.00
R0606:Zbtb41 UTSW 1 139,351,348 (GRCm39) missense probably benign 0.28
R0964:Zbtb41 UTSW 1 139,366,769 (GRCm39) missense probably damaging 0.99
R1531:Zbtb41 UTSW 1 139,350,931 (GRCm39) missense probably benign 0.00
R1723:Zbtb41 UTSW 1 139,351,301 (GRCm39) missense probably benign 0.39
R1765:Zbtb41 UTSW 1 139,368,132 (GRCm39) missense probably benign 0.00
R1829:Zbtb41 UTSW 1 139,374,660 (GRCm39) nonsense probably null
R2077:Zbtb41 UTSW 1 139,351,831 (GRCm39) missense probably damaging 1.00
R2292:Zbtb41 UTSW 1 139,368,097 (GRCm39) missense probably damaging 0.99
R2380:Zbtb41 UTSW 1 139,351,552 (GRCm39) missense probably damaging 0.99
R2402:Zbtb41 UTSW 1 139,350,923 (GRCm39) missense probably benign 0.10
R2402:Zbtb41 UTSW 1 139,350,925 (GRCm39) nonsense probably null
R3847:Zbtb41 UTSW 1 139,351,734 (GRCm39) missense probably benign
R3848:Zbtb41 UTSW 1 139,351,734 (GRCm39) missense probably benign
R3849:Zbtb41 UTSW 1 139,351,734 (GRCm39) missense probably benign
R4077:Zbtb41 UTSW 1 139,357,064 (GRCm39) missense probably benign 0.11
R4641:Zbtb41 UTSW 1 139,370,557 (GRCm39) missense probably damaging 0.98
R4772:Zbtb41 UTSW 1 139,375,152 (GRCm39) missense probably damaging 1.00
R5646:Zbtb41 UTSW 1 139,351,501 (GRCm39) missense probably benign 0.05
R5754:Zbtb41 UTSW 1 139,359,816 (GRCm39) critical splice donor site probably null
R6002:Zbtb41 UTSW 1 139,351,397 (GRCm39) missense probably damaging 1.00
R6045:Zbtb41 UTSW 1 139,351,770 (GRCm39) missense probably benign 0.34
R6302:Zbtb41 UTSW 1 139,357,027 (GRCm39) missense possibly damaging 0.67
R6430:Zbtb41 UTSW 1 139,374,945 (GRCm39) missense probably benign 0.02
R6906:Zbtb41 UTSW 1 139,351,128 (GRCm39) missense possibly damaging 0.59
R7584:Zbtb41 UTSW 1 139,351,795 (GRCm39) missense probably benign 0.14
R7753:Zbtb41 UTSW 1 139,374,895 (GRCm39) missense probably benign
R8132:Zbtb41 UTSW 1 139,350,955 (GRCm39) missense probably benign 0.00
R8138:Zbtb41 UTSW 1 139,369,545 (GRCm39) missense probably damaging 1.00
R8205:Zbtb41 UTSW 1 139,356,919 (GRCm39) missense possibly damaging 0.96
R8823:Zbtb41 UTSW 1 139,350,892 (GRCm39) missense probably damaging 1.00
R8967:Zbtb41 UTSW 1 139,370,587 (GRCm39) missense probably benign
R9431:Zbtb41 UTSW 1 139,350,781 (GRCm39) start gained probably benign
R9500:Zbtb41 UTSW 1 139,359,806 (GRCm39) missense probably damaging 1.00
R9559:Zbtb41 UTSW 1 139,358,053 (GRCm39) missense probably benign 0.14
R9603:Zbtb41 UTSW 1 139,375,255 (GRCm39) missense probably damaging 1.00
R9789:Zbtb41 UTSW 1 139,368,084 (GRCm39) missense probably damaging 1.00
Z1177:Zbtb41 UTSW 1 139,351,154 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCTGCCACTGATTCTAGG -3'
(R):5'- ACAGATCAGGGAAAACTGCC -3'

Sequencing Primer
(F):5'- GCCACTGATTCTAGGTCTCCAG -3'
(R):5'- CAACCAAAATAGAATCTTCACTTCTG -3'
Posted On 2018-04-02