Incidental Mutation 'IGL02308:Zzef1'
ID 287686
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zzef1
Ensembl Gene ENSMUSG00000055670
Gene Name zinc finger, ZZ-type with EF hand domain 1
Synonyms C130099L13Rik, 8430405D05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02308
Quality Score
Status
Chromosome 11
Chromosomal Location 72796226-72927120 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72886747 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 1801 (M1801I)
Ref Sequence ENSEMBL: ENSMUSP00000147028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069395] [ENSMUST00000172220] [ENSMUST00000207107]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069395
AA Change: M1801I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000068790
Gene: ENSMUSG00000055670
AA Change: M1801I

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
low complexity region 28 68 N/A INTRINSIC
low complexity region 78 93 N/A INTRINSIC
APC10 246 397 2.65e-48 SMART
internal_repeat_1 1122 1192 1.25e-7 PROSPERO
low complexity region 1472 1485 N/A INTRINSIC
low complexity region 1512 1525 N/A INTRINSIC
ZnF_ZZ 1775 1823 2.54e-7 SMART
ZnF_ZZ 1824 1868 1.2e-8 SMART
low complexity region 1947 1963 N/A INTRINSIC
low complexity region 2127 2140 N/A INTRINSIC
low complexity region 2249 2263 N/A INTRINSIC
internal_repeat_1 2657 2726 1.25e-7 PROSPERO
low complexity region 2840 2853 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083364
Predicted Effect probably benign
Transcript: ENSMUST00000172220
AA Change: M1801I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000130515
Gene: ENSMUSG00000055670
AA Change: M1801I

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
low complexity region 28 68 N/A INTRINSIC
low complexity region 78 93 N/A INTRINSIC
APC10 246 397 2.65e-48 SMART
internal_repeat_1 1006 1192 1.57e-16 PROSPERO
low complexity region 1472 1485 N/A INTRINSIC
low complexity region 1512 1525 N/A INTRINSIC
ZnF_ZZ 1775 1823 2.54e-7 SMART
ZnF_ZZ 1824 1868 1.2e-8 SMART
low complexity region 1947 1963 N/A INTRINSIC
low complexity region 2127 2140 N/A INTRINSIC
low complexity region 2249 2263 N/A INTRINSIC
internal_repeat_1 2583 2759 1.57e-16 PROSPERO
low complexity region 2873 2886 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207107
AA Change: M1801I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,202,482 (GRCm38) S8F probably damaging Het
Alpk1 T A 3: 127,729,282 (GRCm38) Q37L probably damaging Het
Cfap43 T C 19: 47,748,024 (GRCm38) T1343A probably benign Het
Cmbl C A 15: 31,585,408 (GRCm38) P146Q possibly damaging Het
Cog2 A T 8: 124,533,212 (GRCm38) probably null Het
Dgkh C A 14: 78,587,576 (GRCm38) V880L probably benign Het
Dopey1 T C 9: 86,520,088 (GRCm38) S1114P probably damaging Het
Eif5b T A 1: 38,041,747 (GRCm38) V723D probably damaging Het
Gdf11 A G 10: 128,885,384 (GRCm38) Y314H probably damaging Het
Gm10110 T C 14: 89,897,595 (GRCm38) noncoding transcript Het
Gm960 T C 19: 4,663,555 (GRCm38) K132E probably damaging Het
Gria1 G A 11: 57,236,924 (GRCm38) V320I probably benign Het
H2-Q10 T A 17: 35,473,566 (GRCm38) *326R probably null Het
Irx6 T A 8: 92,677,031 (GRCm38) L128Q probably damaging Het
Kif21b T A 1: 136,159,757 (GRCm38) L937Q probably damaging Het
Lama5 A G 2: 180,190,327 (GRCm38) probably benign Het
Mios A G 6: 8,231,269 (GRCm38) I718V probably benign Het
Mroh8 A G 2: 157,254,973 (GRCm38) V318A probably damaging Het
Nags A G 11: 102,149,071 (GRCm38) *528W probably null Het
Nom1 T A 5: 29,437,710 (GRCm38) V403D probably damaging Het
Npffr2 C A 5: 89,583,451 (GRCm38) N413K probably benign Het
Olfr394 A T 11: 73,888,295 (GRCm38) Y26N probably benign Het
Olfr671 T A 7: 104,975,458 (GRCm38) I176F possibly damaging Het
Olr1 C T 6: 129,499,897 (GRCm38) R135K possibly damaging Het
Pkhd1 A G 1: 20,070,376 (GRCm38) probably null Het
Ptpro A G 6: 137,454,700 (GRCm38) M1158V probably benign Het
Sh3d19 A G 3: 86,093,710 (GRCm38) K238E probably damaging Het
Smarcc2 G T 10: 128,482,772 (GRCm38) R641L probably damaging Het
Th T C 7: 142,898,057 (GRCm38) E75G possibly damaging Het
Tlr1 A T 5: 64,925,947 (GRCm38) L429* probably null Het
Ttn G A 2: 76,894,361 (GRCm38) R2107* probably null Het
Ubr2 A T 17: 46,934,193 (GRCm38) C1636S probably damaging Het
Vmn2r100 T A 17: 19,521,335 (GRCm38) I103K possibly damaging Het
Vmn2r88 A G 14: 51,417,980 (GRCm38) M558V possibly damaging Het
Other mutations in Zzef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Zzef1 APN 11 72,875,126 (GRCm38) missense probably benign 0.02
IGL00898:Zzef1 APN 11 72,875,173 (GRCm38) missense probably benign 0.00
IGL00970:Zzef1 APN 11 72,915,245 (GRCm38) missense probably benign 0.06
IGL01062:Zzef1 APN 11 72,874,969 (GRCm38) missense probably benign
IGL01832:Zzef1 APN 11 72,875,066 (GRCm38) missense probably damaging 0.99
IGL02005:Zzef1 APN 11 72,888,299 (GRCm38) missense probably benign 0.00
IGL02026:Zzef1 APN 11 72,881,338 (GRCm38) missense probably benign 0.39
IGL02110:Zzef1 APN 11 72,913,112 (GRCm38) missense probably damaging 1.00
IGL02305:Zzef1 APN 11 72,866,597 (GRCm38) splice site probably benign
IGL02315:Zzef1 APN 11 72,875,257 (GRCm38) nonsense probably null
IGL02332:Zzef1 APN 11 72,916,509 (GRCm38) missense probably benign 0.01
IGL02389:Zzef1 APN 11 72,891,217 (GRCm38) missense probably benign
IGL02389:Zzef1 APN 11 72,899,538 (GRCm38) missense possibly damaging 0.89
IGL02451:Zzef1 APN 11 72,901,388 (GRCm38) missense probably damaging 0.99
IGL02541:Zzef1 APN 11 72,872,649 (GRCm38) missense probably damaging 1.00
IGL02950:Zzef1 APN 11 72,917,699 (GRCm38) splice site probably benign
IGL02953:Zzef1 APN 11 72,855,398 (GRCm38) missense probably benign
IGL03053:Zzef1 APN 11 72,831,539 (GRCm38) splice site probably benign
IGL03085:Zzef1 APN 11 72,855,524 (GRCm38) splice site probably benign
IGL03152:Zzef1 APN 11 72,923,182 (GRCm38) critical splice donor site probably null
IGL03329:Zzef1 APN 11 72,917,273 (GRCm38) splice site probably benign
IGL03376:Zzef1 APN 11 72,876,551 (GRCm38) splice site probably benign
IGL03394:Zzef1 APN 11 72,886,775 (GRCm38) splice site probably null
Dreidel UTSW 11 72,908,469 (GRCm38) nonsense probably null
Hanukkah UTSW 11 72,893,332 (GRCm38) missense probably benign 0.00
Mezuzah UTSW 11 72,848,733 (GRCm38) nonsense probably null
BB005:Zzef1 UTSW 11 72,821,896 (GRCm38) missense probably damaging 0.99
BB015:Zzef1 UTSW 11 72,821,896 (GRCm38) missense probably damaging 0.99
PIT4508001:Zzef1 UTSW 11 72,895,176 (GRCm38) missense probably benign
PIT4581001:Zzef1 UTSW 11 72,899,672 (GRCm38) missense probably benign 0.00
PIT4810001:Zzef1 UTSW 11 72,850,745 (GRCm38) missense probably damaging 1.00
R0094:Zzef1 UTSW 11 72,817,965 (GRCm38) missense probably benign 0.01
R0119:Zzef1 UTSW 11 72,821,851 (GRCm38) missense probably benign
R0136:Zzef1 UTSW 11 72,821,851 (GRCm38) missense probably benign
R0140:Zzef1 UTSW 11 72,899,551 (GRCm38) missense possibly damaging 0.70
R0212:Zzef1 UTSW 11 72,873,910 (GRCm38) missense possibly damaging 0.66
R0217:Zzef1 UTSW 11 72,889,068 (GRCm38) missense probably damaging 1.00
R0220:Zzef1 UTSW 11 72,865,966 (GRCm38) missense probably damaging 1.00
R0304:Zzef1 UTSW 11 72,880,624 (GRCm38) missense probably benign 0.10
R0400:Zzef1 UTSW 11 72,895,242 (GRCm38) missense probably damaging 1.00
R0422:Zzef1 UTSW 11 72,866,091 (GRCm38) missense possibly damaging 0.93
R0471:Zzef1 UTSW 11 72,923,111 (GRCm38) missense probably damaging 1.00
R0557:Zzef1 UTSW 11 72,917,730 (GRCm38) missense probably damaging 1.00
R0581:Zzef1 UTSW 11 72,851,900 (GRCm38) missense probably benign 0.00
R0599:Zzef1 UTSW 11 72,913,178 (GRCm38) missense probably damaging 1.00
R0603:Zzef1 UTSW 11 72,818,069 (GRCm38) missense probably benign 0.00
R0657:Zzef1 UTSW 11 72,821,851 (GRCm38) missense probably benign
R0987:Zzef1 UTSW 11 72,901,333 (GRCm38) small deletion probably benign
R1246:Zzef1 UTSW 11 72,874,909 (GRCm38) missense probably benign 0.00
R1327:Zzef1 UTSW 11 72,893,414 (GRCm38) critical splice donor site probably null
R1438:Zzef1 UTSW 11 72,912,945 (GRCm38) missense probably damaging 0.96
R1466:Zzef1 UTSW 11 72,924,679 (GRCm38) missense probably damaging 1.00
R1466:Zzef1 UTSW 11 72,924,679 (GRCm38) missense probably damaging 1.00
R1485:Zzef1 UTSW 11 72,900,809 (GRCm38) splice site probably null
R1556:Zzef1 UTSW 11 72,915,233 (GRCm38) missense probably damaging 1.00
R1563:Zzef1 UTSW 11 72,848,733 (GRCm38) nonsense probably null
R1584:Zzef1 UTSW 11 72,924,679 (GRCm38) missense probably damaging 1.00
R1643:Zzef1 UTSW 11 72,826,202 (GRCm38) missense probably damaging 1.00
R1646:Zzef1 UTSW 11 72,864,036 (GRCm38) critical splice donor site probably null
R1764:Zzef1 UTSW 11 72,893,332 (GRCm38) missense probably benign 0.00
R1777:Zzef1 UTSW 11 72,910,272 (GRCm38) missense probably damaging 1.00
R1793:Zzef1 UTSW 11 72,886,709 (GRCm38) missense probably damaging 1.00
R1900:Zzef1 UTSW 11 72,848,714 (GRCm38) missense probably damaging 0.99
R2096:Zzef1 UTSW 11 72,872,639 (GRCm38) missense probably benign 0.02
R2134:Zzef1 UTSW 11 72,880,624 (GRCm38) missense probably benign 0.02
R2157:Zzef1 UTSW 11 72,848,634 (GRCm38) splice site probably benign
R2183:Zzef1 UTSW 11 72,886,718 (GRCm38) nonsense probably null
R2192:Zzef1 UTSW 11 72,910,156 (GRCm38) splice site probably null
R2230:Zzef1 UTSW 11 72,884,416 (GRCm38) missense probably damaging 0.99
R2259:Zzef1 UTSW 11 72,900,633 (GRCm38) nonsense probably null
R2384:Zzef1 UTSW 11 72,858,394 (GRCm38) missense probably damaging 0.99
R2426:Zzef1 UTSW 11 72,915,265 (GRCm38) missense probably benign 0.01
R2915:Zzef1 UTSW 11 72,910,326 (GRCm38) splice site probably null
R3700:Zzef1 UTSW 11 72,886,772 (GRCm38) missense probably null 1.00
R3875:Zzef1 UTSW 11 72,889,040 (GRCm38) missense probably benign 0.22
R3902:Zzef1 UTSW 11 72,908,500 (GRCm38) missense probably damaging 1.00
R3927:Zzef1 UTSW 11 72,858,382 (GRCm38) missense probably damaging 1.00
R4086:Zzef1 UTSW 11 72,875,053 (GRCm38) missense probably benign 0.02
R4301:Zzef1 UTSW 11 72,889,035 (GRCm38) missense probably damaging 0.96
R4359:Zzef1 UTSW 11 72,823,508 (GRCm38) missense probably damaging 0.98
R4382:Zzef1 UTSW 11 72,875,112 (GRCm38) missense probably benign 0.00
R4453:Zzef1 UTSW 11 72,872,639 (GRCm38) missense probably benign 0.02
R4466:Zzef1 UTSW 11 72,924,659 (GRCm38) missense probably damaging 1.00
R4471:Zzef1 UTSW 11 72,913,331 (GRCm38) missense probably damaging 1.00
R4510:Zzef1 UTSW 11 72,888,170 (GRCm38) missense probably benign 0.32
R4511:Zzef1 UTSW 11 72,888,170 (GRCm38) missense probably benign 0.32
R4714:Zzef1 UTSW 11 72,837,212 (GRCm38) missense probably damaging 1.00
R4799:Zzef1 UTSW 11 72,859,623 (GRCm38) missense probably benign 0.12
R4906:Zzef1 UTSW 11 72,901,388 (GRCm38) missense probably damaging 1.00
R5075:Zzef1 UTSW 11 72,858,344 (GRCm38) missense probably damaging 1.00
R5357:Zzef1 UTSW 11 72,843,333 (GRCm38) nonsense probably null
R5579:Zzef1 UTSW 11 72,900,637 (GRCm38) missense probably damaging 0.98
R5598:Zzef1 UTSW 11 72,916,521 (GRCm38) missense probably damaging 1.00
R5725:Zzef1 UTSW 11 72,855,482 (GRCm38) missense possibly damaging 0.86
R5765:Zzef1 UTSW 11 72,821,937 (GRCm38) nonsense probably null
R5928:Zzef1 UTSW 11 72,912,852 (GRCm38) missense probably damaging 1.00
R6003:Zzef1 UTSW 11 72,824,065 (GRCm38) splice site probably null
R6047:Zzef1 UTSW 11 72,866,095 (GRCm38) missense probably damaging 0.99
R6224:Zzef1 UTSW 11 72,855,383 (GRCm38) missense probably damaging 0.99
R6225:Zzef1 UTSW 11 72,869,805 (GRCm38) missense possibly damaging 0.62
R6287:Zzef1 UTSW 11 72,923,112 (GRCm38) missense probably damaging 1.00
R6361:Zzef1 UTSW 11 72,884,349 (GRCm38) missense possibly damaging 0.93
R6451:Zzef1 UTSW 11 72,923,156 (GRCm38) missense possibly damaging 0.88
R6467:Zzef1 UTSW 11 72,911,264 (GRCm38) critical splice donor site probably null
R6484:Zzef1 UTSW 11 72,895,271 (GRCm38) missense probably damaging 1.00
R6493:Zzef1 UTSW 11 72,913,303 (GRCm38) missense probably benign 0.06
R6520:Zzef1 UTSW 11 72,826,065 (GRCm38) missense probably damaging 1.00
R6527:Zzef1 UTSW 11 72,874,990 (GRCm38) missense probably benign 0.00
R6540:Zzef1 UTSW 11 72,913,229 (GRCm38) missense probably damaging 1.00
R6608:Zzef1 UTSW 11 72,912,826 (GRCm38) missense probably damaging 1.00
R6795:Zzef1 UTSW 11 72,850,659 (GRCm38) missense probably benign 0.00
R6927:Zzef1 UTSW 11 72,913,157 (GRCm38) missense probably damaging 1.00
R6987:Zzef1 UTSW 11 72,855,514 (GRCm38) missense possibly damaging 0.89
R7048:Zzef1 UTSW 11 72,866,699 (GRCm38) nonsense probably null
R7076:Zzef1 UTSW 11 72,899,559 (GRCm38) missense probably benign 0.00
R7099:Zzef1 UTSW 11 72,872,649 (GRCm38) missense possibly damaging 0.92
R7132:Zzef1 UTSW 11 72,917,871 (GRCm38) critical splice donor site probably null
R7175:Zzef1 UTSW 11 72,851,901 (GRCm38) missense possibly damaging 0.49
R7284:Zzef1 UTSW 11 72,886,690 (GRCm38) missense probably damaging 0.99
R7300:Zzef1 UTSW 11 72,875,004 (GRCm38) missense probably benign 0.02
R7486:Zzef1 UTSW 11 72,864,786 (GRCm38) missense possibly damaging 0.85
R7503:Zzef1 UTSW 11 72,826,067 (GRCm38) missense probably damaging 1.00
R7679:Zzef1 UTSW 11 72,893,278 (GRCm38) missense probably benign
R7874:Zzef1 UTSW 11 72,859,653 (GRCm38) missense probably benign 0.01
R7898:Zzef1 UTSW 11 72,796,547 (GRCm38) missense probably damaging 1.00
R7928:Zzef1 UTSW 11 72,821,896 (GRCm38) missense probably damaging 0.99
R8021:Zzef1 UTSW 11 72,823,416 (GRCm38) missense probably damaging 0.99
R8145:Zzef1 UTSW 11 72,908,469 (GRCm38) nonsense probably null
R8255:Zzef1 UTSW 11 72,875,129 (GRCm38) missense probably benign 0.00
R8303:Zzef1 UTSW 11 72,917,189 (GRCm38) missense probably damaging 1.00
R8492:Zzef1 UTSW 11 72,886,746 (GRCm38) missense probably damaging 0.97
R8492:Zzef1 UTSW 11 72,872,604 (GRCm38) missense probably damaging 1.00
R8498:Zzef1 UTSW 11 72,853,322 (GRCm38) missense probably damaging 1.00
R8547:Zzef1 UTSW 11 72,844,441 (GRCm38) missense probably damaging 1.00
R8874:Zzef1 UTSW 11 72,863,989 (GRCm38) missense probably benign 0.00
R8885:Zzef1 UTSW 11 72,796,576 (GRCm38) missense probably benign 0.00
R8972:Zzef1 UTSW 11 72,900,673 (GRCm38) missense probably damaging 1.00
R8979:Zzef1 UTSW 11 72,875,177 (GRCm38) missense probably benign 0.00
R9053:Zzef1 UTSW 11 72,922,476 (GRCm38) missense probably benign
R9108:Zzef1 UTSW 11 72,899,778 (GRCm38) missense probably benign 0.11
R9121:Zzef1 UTSW 11 72,866,120 (GRCm38) nonsense probably null
R9253:Zzef1 UTSW 11 72,848,637 (GRCm38) splice site probably benign
R9370:Zzef1 UTSW 11 72,853,322 (GRCm38) missense probably damaging 1.00
R9408:Zzef1 UTSW 11 72,864,827 (GRCm38) missense possibly damaging 0.86
R9467:Zzef1 UTSW 11 72,916,425 (GRCm38) missense probably damaging 1.00
R9468:Zzef1 UTSW 11 72,923,183 (GRCm38) critical splice donor site probably null
R9563:Zzef1 UTSW 11 72,874,906 (GRCm38) missense probably damaging 1.00
R9647:Zzef1 UTSW 11 72,869,825 (GRCm38) missense probably benign 0.01
R9667:Zzef1 UTSW 11 72,867,960 (GRCm38) missense probably benign
R9742:Zzef1 UTSW 11 72,858,353 (GRCm38) missense probably benign
X0028:Zzef1 UTSW 11 72,906,979 (GRCm38) missense probably benign 0.29
Z1176:Zzef1 UTSW 11 72,796,528 (GRCm38) missense probably damaging 1.00
Z1177:Zzef1 UTSW 11 72,900,631 (GRCm38) critical splice acceptor site probably null
Z1177:Zzef1 UTSW 11 72,826,178 (GRCm38) missense probably damaging 1.00
Z1177:Zzef1 UTSW 11 72,796,312 (GRCm38) missense possibly damaging 0.91
Z1177:Zzef1 UTSW 11 72,915,320 (GRCm38) missense probably damaging 1.00
Z1186:Zzef1 UTSW 11 72,889,182 (GRCm38) missense probably benign
Z1187:Zzef1 UTSW 11 72,889,182 (GRCm38) missense probably benign
Z1188:Zzef1 UTSW 11 72,889,182 (GRCm38) missense probably benign
Z1189:Zzef1 UTSW 11 72,889,182 (GRCm38) missense probably benign
Z1190:Zzef1 UTSW 11 72,889,182 (GRCm38) missense probably benign
Z1191:Zzef1 UTSW 11 72,889,182 (GRCm38) missense probably benign
Z1192:Zzef1 UTSW 11 72,889,182 (GRCm38) missense probably benign
Posted On 2015-04-16