Incidental Mutation 'IGL02150:Zbtb41'
ID281938
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zbtb41
Ensembl Gene ENSMUSG00000033964
Gene Namezinc finger and BTB domain containing 41
Synonyms9830132G07Rik, 8430415N23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.201) question?
Stock #IGL02150
Quality Score
Status
Chromosome1
Chromosomal Location139422288-139453005 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 139440448 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 625 (S625P)
Ref Sequence ENSEMBL: ENSMUSP00000045570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039867] [ENSMUST00000200243]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039867
AA Change: S625P

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045570
Gene: ENSMUSG00000033964
AA Change: S625P

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: S625P

PolyPhen 2 Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142797
Gene: ENSMUSG00000033964
AA Change: S625P

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik G A 7: 140,297,859 G918D possibly damaging Het
9530053A07Rik T A 7: 28,146,779 Y965* probably null Het
AI464131 A G 4: 41,499,183 V149A possibly damaging Het
Ankdd1a C T 9: 65,512,719 G92S probably damaging Het
Arid1a A T 4: 133,687,257 M1221K unknown Het
Arl10 G A 13: 54,578,849 V147M probably damaging Het
Bbs4 T C 9: 59,336,368 N152S probably benign Het
Cacna2d2 T G 9: 107,527,316 probably benign Het
Capn9 A G 8: 124,613,843 E582G probably benign Het
Cct2 A T 10: 117,062,099 L61Q probably damaging Het
Clip4 A G 17: 71,799,076 I85V probably damaging Het
Daam2 A T 17: 49,490,304 L151Q possibly damaging Het
Dlst T A 12: 85,131,033 I400N possibly damaging Het
Dock7 A T 4: 99,079,852 probably benign Het
Dynlrb2 A G 8: 116,515,710 N93S probably benign Het
Efl1 A G 7: 82,686,691 T407A probably benign Het
Emilin1 A G 5: 30,920,173 D891G possibly damaging Het
Enpp4 A C 17: 44,102,158 S162A probably benign Het
Epas1 A G 17: 86,805,289 D105G probably damaging Het
Gcn1l1 T A 5: 115,609,868 I1778N probably damaging Het
Gm14496 A C 2: 181,991,347 D41A probably damaging Het
Gm7008 T A 12: 40,223,258 probably benign Het
Hcfc2 G A 10: 82,710,018 S246N probably damaging Het
Hectd1 T C 12: 51,769,191 N1366S probably damaging Het
Lgmn T C 12: 102,395,727 R372G possibly damaging Het
Map2k7 A G 8: 4,243,818 M153V possibly damaging Het
Megf8 T A 7: 25,346,417 probably null Het
Mgat4c A C 10: 102,389,122 E399A probably benign Het
Nfat5 C T 8: 107,367,952 Q942* probably null Het
Notch4 A G 17: 34,584,613 E1502G probably damaging Het
Olfr6 G T 7: 106,956,556 P127T probably damaging Het
Olfr895 A T 9: 38,269,268 I252L possibly damaging Het
Optn A C 2: 5,033,152 I410M probably damaging Het
Ppp1ca G A 19: 4,194,699 probably benign Het
Pramel5 C A 4: 144,273,201 L105F possibly damaging Het
Rad54b T A 4: 11,610,502 N706K probably damaging Het
Rgs11 A T 17: 26,202,994 T6S probably benign Het
Sbf1 T C 15: 89,295,480 H1308R probably benign Het
Sec31a T C 5: 100,386,125 probably benign Het
Sh2d5 G A 4: 138,258,242 D334N probably benign Het
Skint5 T A 4: 113,885,791 I360F unknown Het
Slc12a1 G A 2: 125,184,815 D457N probably damaging Het
Slco2a1 C T 9: 103,084,818 A563V probably damaging Het
Snrnp35 G A 5: 124,490,408 A95T probably damaging Het
Snx25 C A 8: 46,116,281 R193L possibly damaging Het
Stxbp5 T G 10: 9,762,821 Q1078P probably damaging Het
Tmc2 A T 2: 130,240,153 I419F probably damaging Het
Tmem87a A T 2: 120,360,076 W525R probably damaging Het
Trhde A T 10: 114,592,108 S428T probably damaging Het
Trp73 G A 4: 154,081,486 A42V possibly damaging Het
Ttn T C 2: 76,848,972 probably benign Het
Ttn C T 2: 76,768,502 V19356M probably damaging Het
Vmn1r170 T A 7: 23,607,040 L289* probably null Het
Vwa5b2 A T 16: 20,604,826 Q1163L probably benign Het
Washc2 T A 6: 116,231,632 probably benign Het
Wdr70 T G 15: 8,082,546 K71T possibly damaging Het
Zfp518b A G 5: 38,673,343 S440P probably damaging Het
Zfp518b A G 5: 38,673,789 V291A probably damaging Het
Zmym2 G A 14: 56,911,069 probably benign Het
Other mutations in Zbtb41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Zbtb41 APN 1 139430324 missense probably benign 0.01
IGL01796:Zbtb41 APN 1 139442883 missense probably damaging 0.99
IGL01844:Zbtb41 APN 1 139447327 missense probably benign 0.01
IGL02346:Zbtb41 APN 1 139447100 missense probably damaging 1.00
IGL03139:Zbtb41 APN 1 139423838 missense probably benign 0.00
IGL03215:Zbtb41 APN 1 139446950 missense probably damaging 1.00
IGL03309:Zbtb41 APN 1 139432078 critical splice donor site probably null
memorialized UTSW 1 139440394 missense probably benign 0.00
Noted UTSW 1 139439031 missense probably damaging 0.99
R7584_zbtb41_939 UTSW 1 139424057 missense probably benign 0.14
unforgotten UTSW 1 139432078 critical splice donor site probably null
R0004:Zbtb41 UTSW 1 139442888 missense possibly damaging 0.90
R0010:Zbtb41 UTSW 1 139423530 missense probably damaging 1.00
R0010:Zbtb41 UTSW 1 139423530 missense probably damaging 1.00
R0048:Zbtb41 UTSW 1 139441834 missense probably damaging 1.00
R0230:Zbtb41 UTSW 1 139446935 missense probably damaging 1.00
R0309:Zbtb41 UTSW 1 139438984 missense probably damaging 0.99
R0458:Zbtb41 UTSW 1 139423476 missense probably damaging 1.00
R0606:Zbtb41 UTSW 1 139423610 missense probably benign 0.28
R0964:Zbtb41 UTSW 1 139439031 missense probably damaging 0.99
R1531:Zbtb41 UTSW 1 139423193 missense probably benign 0.00
R1723:Zbtb41 UTSW 1 139423563 missense probably benign 0.39
R1765:Zbtb41 UTSW 1 139440394 missense probably benign 0.00
R1829:Zbtb41 UTSW 1 139446922 nonsense probably null
R2077:Zbtb41 UTSW 1 139424093 missense probably damaging 1.00
R2292:Zbtb41 UTSW 1 139440359 missense probably damaging 0.99
R2380:Zbtb41 UTSW 1 139423814 missense probably damaging 0.99
R2402:Zbtb41 UTSW 1 139423185 missense probably benign 0.10
R2402:Zbtb41 UTSW 1 139423187 nonsense probably null
R3847:Zbtb41 UTSW 1 139423996 missense probably benign
R3848:Zbtb41 UTSW 1 139423996 missense probably benign
R3849:Zbtb41 UTSW 1 139423996 missense probably benign
R4077:Zbtb41 UTSW 1 139429326 missense probably benign 0.11
R4641:Zbtb41 UTSW 1 139442819 missense probably damaging 0.98
R4772:Zbtb41 UTSW 1 139447414 missense probably damaging 1.00
R5646:Zbtb41 UTSW 1 139423763 missense probably benign 0.05
R5754:Zbtb41 UTSW 1 139432078 critical splice donor site probably null
R6002:Zbtb41 UTSW 1 139423659 missense probably damaging 1.00
R6045:Zbtb41 UTSW 1 139424032 missense probably benign 0.34
R6302:Zbtb41 UTSW 1 139429289 missense possibly damaging 0.67
R6318:Zbtb41 UTSW 1 139430306 missense possibly damaging 0.91
R6430:Zbtb41 UTSW 1 139447207 missense probably benign 0.02
R6906:Zbtb41 UTSW 1 139423390 missense possibly damaging 0.59
R7584:Zbtb41 UTSW 1 139424057 missense probably benign 0.14
R7753:Zbtb41 UTSW 1 139447157 missense probably benign
R8132:Zbtb41 UTSW 1 139423217 missense probably benign 0.00
R8138:Zbtb41 UTSW 1 139441807 missense probably damaging 1.00
R8205:Zbtb41 UTSW 1 139429181 missense possibly damaging 0.96
R8823:Zbtb41 UTSW 1 139423154 missense probably damaging 1.00
Z1177:Zbtb41 UTSW 1 139423416 missense probably damaging 1.00
Posted On2015-04-16