Incidental Mutation 'R2292:Zbtb41'
ID 245016
Institutional Source Beutler Lab
Gene Symbol Zbtb41
Ensembl Gene ENSMUSG00000033964
Gene Name zinc finger and BTB domain containing 41
Synonyms 8430415N23Rik, 9830132G07Rik
MMRRC Submission 040291-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R2292 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 139350026-139380743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139368097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 595 (V595A)
Ref Sequence ENSEMBL: ENSMUSP00000045570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039867] [ENSMUST00000200243]
AlphaFold Q811F1
Predicted Effect probably damaging
Transcript: ENSMUST00000039867
AA Change: V595A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045570
Gene: ENSMUSG00000033964
AA Change: V595A

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: V595A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142797
Gene: ENSMUSG00000033964
AA Change: V595A

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 0.3606 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,562,483 (GRCm39) I370T probably benign Het
A2m A G 6: 121,650,518 (GRCm39) T1209A possibly damaging Het
Als2 T C 1: 59,226,544 (GRCm39) Q920R probably damaging Het
Arhgap20 T A 9: 51,760,743 (GRCm39) Y829N possibly damaging Het
Arhgap35 A T 7: 16,297,476 (GRCm39) F530I probably damaging Het
Arid4a G T 12: 71,108,315 (GRCm39) G40V probably damaging Het
Ascc2 T C 11: 4,629,352 (GRCm39) probably benign Het
Cacna1b C T 2: 24,496,632 (GRCm39) V2312I probably benign Het
Dctn6 T C 8: 34,559,679 (GRCm39) T159A probably benign Het
Ddx55 G T 5: 124,706,140 (GRCm39) A522S probably benign Het
Dnah6 G A 6: 72,998,092 (GRCm39) T4110I probably damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Dym A G 18: 75,332,283 (GRCm39) T504A possibly damaging Het
E130308A19Rik T C 4: 59,690,579 (GRCm39) Y138H probably damaging Het
Fgd4 A T 16: 16,253,864 (GRCm39) C568S possibly damaging Het
Fkbp4 A C 6: 128,413,625 (GRCm39) V6G probably damaging Het
Flg2 A T 3: 93,127,984 (GRCm39) S2299C unknown Het
Gdf2 A T 14: 33,667,145 (GRCm39) N289I possibly damaging Het
Gpr182 A G 10: 127,586,051 (GRCm39) I300T possibly damaging Het
Iqcg A G 16: 32,870,253 (GRCm39) V80A probably benign Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lyst T G 13: 13,915,080 (GRCm39) F3258C probably damaging Het
Map3k12 T C 15: 102,408,574 (GRCm39) E870G probably damaging Het
Mphosph10 G A 7: 64,035,519 (GRCm39) P384L probably damaging Het
Ncoa4 T G 14: 31,895,413 (GRCm39) L179R probably damaging Het
Nlrp1c-ps A G 11: 71,137,188 (GRCm39) noncoding transcript Het
Nwd2 A T 5: 63,962,917 (GRCm39) M834L probably benign Het
Or10a49 A T 7: 108,468,223 (GRCm39) M46K probably benign Het
Or2w6 A G 13: 21,843,001 (GRCm39) M164T probably damaging Het
Pccb T C 9: 100,876,685 (GRCm39) E266G probably benign Het
Pcdhb2 T A 18: 37,430,297 (GRCm39) probably null Het
Pramel25 T C 4: 143,520,446 (GRCm39) I66T probably benign Het
Prdm13 A C 4: 21,683,914 (GRCm39) I119S unknown Het
Tchh A G 3: 93,349,689 (GRCm39) Y18C probably damaging Het
Tmem192 T C 8: 65,411,998 (GRCm39) V59A probably damaging Het
Trak2 A T 1: 58,974,916 (GRCm39) F92Y probably damaging Het
Trappc11 C T 8: 47,958,771 (GRCm39) G40D probably damaging Het
Ttc23 A T 7: 67,319,535 (GRCm39) I132F probably benign Het
Ttc9b A G 7: 27,355,405 (GRCm39) D225G probably benign Het
Ubr3 G T 2: 69,727,604 (GRCm39) probably benign Het
Vmn2r75 A C 7: 85,798,144 (GRCm39) C556W probably damaging 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
R2380:Zbtb41 UTSW 1 139,351,552 (GRCm39) missense probably damaging 0.99
R2402:Zbtb41 UTSW 1 139,350,925 (GRCm39) nonsense probably null
R2402:Zbtb41 UTSW 1 139,350,923 (GRCm39) missense probably benign 0.10
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
R6318:Zbtb41 UTSW 1 139,358,044 (GRCm39) missense possibly damaging 0.91
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'- CTTTCAGAAAGGTGAATAGAAACCCTG -3'
(R):5'- CAAACATTATGAAGGGGTGATCAAC -3'

Sequencing Primer
(F):5'- GGTGAATAGAAACCCTGAGATCTTTG -3'
(R):5'- GGGTGATCAACAAATGTCAAACTAC -3'
Posted On 2014-10-30