Incidental Mutation 'R2096:Zzef1'
ID 232122
Institutional Source Beutler Lab
Gene Symbol Zzef1
Ensembl Gene ENSMUSG00000055670
Gene Name zinc finger, ZZ-type with EF hand domain 1
Synonyms 8430405D05Rik, C130099L13Rik
MMRRC Submission 040100-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2096 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 72687052-72817946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72763465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1371 (F1371L)
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: F1371L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000068790
Gene: ENSMUSG00000055670
AA Change: F1371L

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 probably benign
Transcript: ENSMUST00000172220
AA Change: F1371L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000130515
Gene: ENSMUSG00000055670
AA Change: F1371L

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: F1371L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A G 8: 124,709,195 (GRCm39) S120P probably benign Het
Actr3b T A 5: 26,036,743 (GRCm39) Y185* probably null Het
Atg101 T A 15: 101,188,382 (GRCm39) H162Q possibly damaging Het
Btf3 T A 13: 98,449,659 (GRCm39) Q109L possibly damaging Het
Camk2d G A 3: 126,574,091 (GRCm39) G166D probably damaging Het
Capn7 T G 14: 31,071,844 (GRCm39) probably null Het
Cd209f A G 8: 4,155,537 (GRCm39) V17A probably benign Het
Cenpf A G 1: 189,385,656 (GRCm39) V2208A possibly damaging Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Comp T C 8: 70,828,713 (GRCm39) C182R probably damaging Het
Ctsl A G 13: 64,516,840 (GRCm39) probably null Het
Cyp3a44 G T 5: 145,725,215 (GRCm39) Q329K probably damaging Het
Dcpp1 A T 17: 24,099,971 (GRCm39) probably null Het
Dhx38 A G 8: 110,280,891 (GRCm39) V831A probably damaging Het
Dkk2 T C 3: 131,791,858 (GRCm39) M22T probably benign Het
Dnah2 C T 11: 69,346,742 (GRCm39) E2615K probably damaging Het
Dpy19l3 A G 7: 35,426,713 (GRCm39) probably null Het
Gm12888 T G 4: 121,176,655 (GRCm39) I49L probably benign Het
Insyn2b C A 11: 34,352,936 (GRCm39) S326Y probably benign Het
Kif15 T A 9: 122,815,252 (GRCm39) M194K probably damaging Het
Mael G T 1: 166,053,244 (GRCm39) Q254K probably benign Het
Nek9 T C 12: 85,361,322 (GRCm39) D461G probably benign Het
Nlrp12 T C 7: 3,281,825 (GRCm39) N819S probably benign Het
Ntng1 T A 3: 109,739,871 (GRCm39) N390Y probably damaging Het
Or5g25 A G 2: 85,478,434 (GRCm39) I77T probably benign Het
P2ry14 C T 3: 59,022,738 (GRCm39) V250I probably damaging Het
Pcnx2 A T 8: 126,485,987 (GRCm39) D1870E probably benign Het
Phf2 T A 13: 48,985,589 (GRCm39) K64* probably null Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Ppa2 A G 3: 133,032,445 (GRCm39) T97A probably damaging Het
Psd G A 19: 46,313,088 (GRCm39) probably null Het
Psg23 T A 7: 18,348,668 (GRCm39) E46D probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rab11b A G 17: 33,967,976 (GRCm39) Y74H probably damaging Het
Rfc3 A T 5: 151,568,383 (GRCm39) S194R probably benign Het
Sema4d A T 13: 51,864,037 (GRCm39) I414N probably damaging Het
Serpinb1a A T 13: 33,031,437 (GRCm39) D120E probably damaging Het
Snai2 T A 16: 14,524,861 (GRCm39) H122Q possibly damaging Het
Spats2l T C 1: 57,985,458 (GRCm39) S504P probably benign Het
Sprr2j-ps T C 3: 92,326,412 (GRCm39) S96P unknown Het
Sspo G T 6: 48,438,608 (GRCm39) V1559L probably benign Het
Tas2r118 T G 6: 23,969,912 (GRCm39) I50L possibly damaging Het
Tdrd3 C T 14: 87,743,788 (GRCm39) Q573* probably null Het
Thoc2l T C 5: 104,667,835 (GRCm39) S786P possibly damaging Het
Tlnrd1 G A 7: 83,532,062 (GRCm39) T123I probably benign Het
Tmem214 T A 5: 31,033,714 (GRCm39) L555H probably damaging Het
Tmprss12 T A 15: 100,183,117 (GRCm39) M153K probably benign Het
Tmprss9 G A 10: 80,725,268 (GRCm39) G410S probably damaging Het
Trpm6 T A 19: 18,803,116 (GRCm39) M853K probably damaging Het
Vmn1r35 A G 6: 66,655,929 (GRCm39) I247T possibly damaging Het
Zcchc7 C A 4: 44,931,059 (GRCm39) P404T probably damaging Het
Other mutations in Zzef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Zzef1 APN 11 72,765,952 (GRCm39) missense probably benign 0.02
IGL00898:Zzef1 APN 11 72,765,999 (GRCm39) missense probably benign 0.00
IGL00970:Zzef1 APN 11 72,806,071 (GRCm39) missense probably benign 0.06
IGL01062:Zzef1 APN 11 72,765,795 (GRCm39) missense probably benign
IGL01832:Zzef1 APN 11 72,765,892 (GRCm39) missense probably damaging 0.99
IGL02005:Zzef1 APN 11 72,779,125 (GRCm39) missense probably benign 0.00
IGL02026:Zzef1 APN 11 72,772,164 (GRCm39) missense probably benign 0.39
IGL02110:Zzef1 APN 11 72,803,938 (GRCm39) missense probably damaging 1.00
IGL02305:Zzef1 APN 11 72,757,423 (GRCm39) splice site probably benign
IGL02308:Zzef1 APN 11 72,777,573 (GRCm39) missense probably benign 0.04
IGL02315:Zzef1 APN 11 72,766,083 (GRCm39) nonsense probably null
IGL02332:Zzef1 APN 11 72,807,335 (GRCm39) missense probably benign 0.01
IGL02389:Zzef1 APN 11 72,782,043 (GRCm39) missense probably benign
IGL02389:Zzef1 APN 11 72,790,364 (GRCm39) missense possibly damaging 0.89
IGL02451:Zzef1 APN 11 72,792,214 (GRCm39) missense probably damaging 0.99
IGL02541:Zzef1 APN 11 72,763,475 (GRCm39) missense probably damaging 1.00
IGL02950:Zzef1 APN 11 72,808,525 (GRCm39) splice site probably benign
IGL02953:Zzef1 APN 11 72,746,224 (GRCm39) missense probably benign
IGL03053:Zzef1 APN 11 72,722,365 (GRCm39) splice site probably benign
IGL03085:Zzef1 APN 11 72,746,350 (GRCm39) splice site probably benign
IGL03152:Zzef1 APN 11 72,814,008 (GRCm39) critical splice donor site probably null
IGL03329:Zzef1 APN 11 72,808,099 (GRCm39) splice site probably benign
IGL03376:Zzef1 APN 11 72,767,377 (GRCm39) splice site probably benign
IGL03394:Zzef1 APN 11 72,777,601 (GRCm39) splice site probably null
Dreidel UTSW 11 72,799,295 (GRCm39) nonsense probably null
Hanukkah UTSW 11 72,784,158 (GRCm39) missense probably benign 0.00
Mezuzah UTSW 11 72,739,559 (GRCm39) nonsense probably null
BB005:Zzef1 UTSW 11 72,712,722 (GRCm39) missense probably damaging 0.99
BB015:Zzef1 UTSW 11 72,712,722 (GRCm39) missense probably damaging 0.99
PIT4508001:Zzef1 UTSW 11 72,786,002 (GRCm39) missense probably benign
PIT4581001:Zzef1 UTSW 11 72,790,498 (GRCm39) missense probably benign 0.00
PIT4810001:Zzef1 UTSW 11 72,741,571 (GRCm39) missense probably damaging 1.00
R0094:Zzef1 UTSW 11 72,708,791 (GRCm39) missense probably benign 0.01
R0119:Zzef1 UTSW 11 72,712,677 (GRCm39) missense probably benign
R0136:Zzef1 UTSW 11 72,712,677 (GRCm39) missense probably benign
R0140:Zzef1 UTSW 11 72,790,377 (GRCm39) missense possibly damaging 0.70
R0212:Zzef1 UTSW 11 72,764,736 (GRCm39) missense possibly damaging 0.66
R0217:Zzef1 UTSW 11 72,779,894 (GRCm39) missense probably damaging 1.00
R0220:Zzef1 UTSW 11 72,756,792 (GRCm39) missense probably damaging 1.00
R0304:Zzef1 UTSW 11 72,771,450 (GRCm39) missense probably benign 0.10
R0400:Zzef1 UTSW 11 72,786,068 (GRCm39) missense probably damaging 1.00
R0422:Zzef1 UTSW 11 72,756,917 (GRCm39) missense possibly damaging 0.93
R0471:Zzef1 UTSW 11 72,813,937 (GRCm39) missense probably damaging 1.00
R0557:Zzef1 UTSW 11 72,808,556 (GRCm39) missense probably damaging 1.00
R0581:Zzef1 UTSW 11 72,742,726 (GRCm39) missense probably benign 0.00
R0599:Zzef1 UTSW 11 72,804,004 (GRCm39) missense probably damaging 1.00
R0603:Zzef1 UTSW 11 72,708,895 (GRCm39) missense probably benign 0.00
R0657:Zzef1 UTSW 11 72,712,677 (GRCm39) missense probably benign
R0987:Zzef1 UTSW 11 72,792,159 (GRCm39) small deletion probably benign
R1246:Zzef1 UTSW 11 72,765,735 (GRCm39) missense probably benign 0.00
R1327:Zzef1 UTSW 11 72,784,240 (GRCm39) critical splice donor site probably null
R1438:Zzef1 UTSW 11 72,803,771 (GRCm39) missense probably damaging 0.96
R1466:Zzef1 UTSW 11 72,815,505 (GRCm39) missense probably damaging 1.00
R1466:Zzef1 UTSW 11 72,815,505 (GRCm39) missense probably damaging 1.00
R1485:Zzef1 UTSW 11 72,791,635 (GRCm39) splice site probably null
R1556:Zzef1 UTSW 11 72,806,059 (GRCm39) missense probably damaging 1.00
R1563:Zzef1 UTSW 11 72,739,559 (GRCm39) nonsense probably null
R1584:Zzef1 UTSW 11 72,815,505 (GRCm39) missense probably damaging 1.00
R1643:Zzef1 UTSW 11 72,717,028 (GRCm39) missense probably damaging 1.00
R1646:Zzef1 UTSW 11 72,754,862 (GRCm39) critical splice donor site probably null
R1764:Zzef1 UTSW 11 72,784,158 (GRCm39) missense probably benign 0.00
R1777:Zzef1 UTSW 11 72,801,098 (GRCm39) missense probably damaging 1.00
R1793:Zzef1 UTSW 11 72,777,535 (GRCm39) missense probably damaging 1.00
R1900:Zzef1 UTSW 11 72,739,540 (GRCm39) missense probably damaging 0.99
R2134:Zzef1 UTSW 11 72,771,450 (GRCm39) missense probably benign 0.02
R2157:Zzef1 UTSW 11 72,739,460 (GRCm39) splice site probably benign
R2183:Zzef1 UTSW 11 72,777,544 (GRCm39) nonsense probably null
R2192:Zzef1 UTSW 11 72,800,982 (GRCm39) splice site probably null
R2230:Zzef1 UTSW 11 72,775,242 (GRCm39) missense probably damaging 0.99
R2259:Zzef1 UTSW 11 72,791,459 (GRCm39) nonsense probably null
R2384:Zzef1 UTSW 11 72,749,220 (GRCm39) missense probably damaging 0.99
R2426:Zzef1 UTSW 11 72,806,091 (GRCm39) missense probably benign 0.01
R2915:Zzef1 UTSW 11 72,801,152 (GRCm39) splice site probably null
R3700:Zzef1 UTSW 11 72,777,598 (GRCm39) missense probably null 1.00
R3875:Zzef1 UTSW 11 72,779,866 (GRCm39) missense probably benign 0.22
R3902:Zzef1 UTSW 11 72,799,326 (GRCm39) missense probably damaging 1.00
R3927:Zzef1 UTSW 11 72,749,208 (GRCm39) missense probably damaging 1.00
R4086:Zzef1 UTSW 11 72,765,879 (GRCm39) missense probably benign 0.02
R4301:Zzef1 UTSW 11 72,779,861 (GRCm39) missense probably damaging 0.96
R4359:Zzef1 UTSW 11 72,714,334 (GRCm39) missense probably damaging 0.98
R4382:Zzef1 UTSW 11 72,765,938 (GRCm39) missense probably benign 0.00
R4453:Zzef1 UTSW 11 72,763,465 (GRCm39) missense probably benign 0.02
R4466:Zzef1 UTSW 11 72,815,485 (GRCm39) missense probably damaging 1.00
R4471:Zzef1 UTSW 11 72,804,157 (GRCm39) missense probably damaging 1.00
R4510:Zzef1 UTSW 11 72,778,996 (GRCm39) missense probably benign 0.32
R4511:Zzef1 UTSW 11 72,778,996 (GRCm39) missense probably benign 0.32
R4714:Zzef1 UTSW 11 72,728,038 (GRCm39) missense probably damaging 1.00
R4799:Zzef1 UTSW 11 72,750,449 (GRCm39) missense probably benign 0.12
R4906:Zzef1 UTSW 11 72,792,214 (GRCm39) missense probably damaging 1.00
R5075:Zzef1 UTSW 11 72,749,170 (GRCm39) missense probably damaging 1.00
R5357:Zzef1 UTSW 11 72,734,159 (GRCm39) nonsense probably null
R5579:Zzef1 UTSW 11 72,791,463 (GRCm39) missense probably damaging 0.98
R5598:Zzef1 UTSW 11 72,807,347 (GRCm39) missense probably damaging 1.00
R5725:Zzef1 UTSW 11 72,746,308 (GRCm39) missense possibly damaging 0.86
R5765:Zzef1 UTSW 11 72,712,763 (GRCm39) nonsense probably null
R5928:Zzef1 UTSW 11 72,803,678 (GRCm39) missense probably damaging 1.00
R6003:Zzef1 UTSW 11 72,714,891 (GRCm39) splice site probably null
R6047:Zzef1 UTSW 11 72,756,921 (GRCm39) missense probably damaging 0.99
R6224:Zzef1 UTSW 11 72,746,209 (GRCm39) missense probably damaging 0.99
R6225:Zzef1 UTSW 11 72,760,631 (GRCm39) missense possibly damaging 0.62
R6287:Zzef1 UTSW 11 72,813,938 (GRCm39) missense probably damaging 1.00
R6361:Zzef1 UTSW 11 72,775,175 (GRCm39) missense possibly damaging 0.93
R6451:Zzef1 UTSW 11 72,813,982 (GRCm39) missense possibly damaging 0.88
R6467:Zzef1 UTSW 11 72,802,090 (GRCm39) critical splice donor site probably null
R6484:Zzef1 UTSW 11 72,786,097 (GRCm39) missense probably damaging 1.00
R6493:Zzef1 UTSW 11 72,804,129 (GRCm39) missense probably benign 0.06
R6520:Zzef1 UTSW 11 72,716,891 (GRCm39) missense probably damaging 1.00
R6527:Zzef1 UTSW 11 72,765,816 (GRCm39) missense probably benign 0.00
R6540:Zzef1 UTSW 11 72,804,055 (GRCm39) missense probably damaging 1.00
R6608:Zzef1 UTSW 11 72,803,652 (GRCm39) missense probably damaging 1.00
R6795:Zzef1 UTSW 11 72,741,485 (GRCm39) missense probably benign 0.00
R6927:Zzef1 UTSW 11 72,803,983 (GRCm39) missense probably damaging 1.00
R6987:Zzef1 UTSW 11 72,746,340 (GRCm39) missense possibly damaging 0.89
R7048:Zzef1 UTSW 11 72,757,525 (GRCm39) nonsense probably null
R7076:Zzef1 UTSW 11 72,790,385 (GRCm39) missense probably benign 0.00
R7099:Zzef1 UTSW 11 72,763,475 (GRCm39) missense possibly damaging 0.92
R7132:Zzef1 UTSW 11 72,808,697 (GRCm39) critical splice donor site probably null
R7175:Zzef1 UTSW 11 72,742,727 (GRCm39) missense possibly damaging 0.49
R7284:Zzef1 UTSW 11 72,777,516 (GRCm39) missense probably damaging 0.99
R7300:Zzef1 UTSW 11 72,765,830 (GRCm39) missense probably benign 0.02
R7486:Zzef1 UTSW 11 72,755,612 (GRCm39) missense possibly damaging 0.85
R7503:Zzef1 UTSW 11 72,716,893 (GRCm39) missense probably damaging 1.00
R7679:Zzef1 UTSW 11 72,784,104 (GRCm39) missense probably benign
R7874:Zzef1 UTSW 11 72,750,479 (GRCm39) missense probably benign 0.01
R7898:Zzef1 UTSW 11 72,687,373 (GRCm39) missense probably damaging 1.00
R7928:Zzef1 UTSW 11 72,712,722 (GRCm39) missense probably damaging 0.99
R8021:Zzef1 UTSW 11 72,714,242 (GRCm39) missense probably damaging 0.99
R8145:Zzef1 UTSW 11 72,799,295 (GRCm39) nonsense probably null
R8255:Zzef1 UTSW 11 72,765,955 (GRCm39) missense probably benign 0.00
R8303:Zzef1 UTSW 11 72,808,015 (GRCm39) missense probably damaging 1.00
R8492:Zzef1 UTSW 11 72,777,572 (GRCm39) missense probably damaging 0.97
R8492:Zzef1 UTSW 11 72,763,430 (GRCm39) missense probably damaging 1.00
R8498:Zzef1 UTSW 11 72,744,148 (GRCm39) missense probably damaging 1.00
R8547:Zzef1 UTSW 11 72,735,267 (GRCm39) missense probably damaging 1.00
R8874:Zzef1 UTSW 11 72,754,815 (GRCm39) missense probably benign 0.00
R8885:Zzef1 UTSW 11 72,687,402 (GRCm39) missense probably benign 0.00
R8972:Zzef1 UTSW 11 72,791,499 (GRCm39) missense probably damaging 1.00
R8979:Zzef1 UTSW 11 72,766,003 (GRCm39) missense probably benign 0.00
R9053:Zzef1 UTSW 11 72,813,302 (GRCm39) missense probably benign
R9108:Zzef1 UTSW 11 72,790,604 (GRCm39) missense probably benign 0.11
R9121:Zzef1 UTSW 11 72,756,946 (GRCm39) nonsense probably null
R9253:Zzef1 UTSW 11 72,739,463 (GRCm39) splice site probably benign
R9370:Zzef1 UTSW 11 72,744,148 (GRCm39) missense probably damaging 1.00
R9408:Zzef1 UTSW 11 72,755,653 (GRCm39) missense possibly damaging 0.86
R9467:Zzef1 UTSW 11 72,807,251 (GRCm39) missense probably damaging 1.00
R9468:Zzef1 UTSW 11 72,814,009 (GRCm39) critical splice donor site probably null
R9563:Zzef1 UTSW 11 72,765,732 (GRCm39) missense probably damaging 1.00
R9647:Zzef1 UTSW 11 72,760,651 (GRCm39) missense probably benign 0.01
R9667:Zzef1 UTSW 11 72,758,786 (GRCm39) missense probably benign
R9742:Zzef1 UTSW 11 72,749,179 (GRCm39) missense probably benign
X0028:Zzef1 UTSW 11 72,797,805 (GRCm39) missense probably benign 0.29
Z1176:Zzef1 UTSW 11 72,687,354 (GRCm39) missense probably damaging 1.00
Z1177:Zzef1 UTSW 11 72,791,457 (GRCm39) critical splice acceptor site probably null
Z1177:Zzef1 UTSW 11 72,717,004 (GRCm39) missense probably damaging 1.00
Z1177:Zzef1 UTSW 11 72,687,138 (GRCm39) missense possibly damaging 0.91
Z1177:Zzef1 UTSW 11 72,806,146 (GRCm39) missense probably damaging 1.00
Z1186:Zzef1 UTSW 11 72,780,008 (GRCm39) missense probably benign
Z1187:Zzef1 UTSW 11 72,780,008 (GRCm39) missense probably benign
Z1188:Zzef1 UTSW 11 72,780,008 (GRCm39) missense probably benign
Z1189:Zzef1 UTSW 11 72,780,008 (GRCm39) missense probably benign
Z1190:Zzef1 UTSW 11 72,780,008 (GRCm39) missense probably benign
Z1191:Zzef1 UTSW 11 72,780,008 (GRCm39) missense probably benign
Z1192:Zzef1 UTSW 11 72,780,008 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCACTTAACTACTACTGCTGTTTCAG -3'
(R):5'- ACCCAGAAGCAGCCTTTAG -3'

Sequencing Primer
(F):5'- TTGGGTGAGATTAGATTGAAATGAC -3'
(R):5'- CAGAAGCAGCCTTTAGAGTTATAAAG -3'
Posted On 2014-09-18