Incidental Mutation 'R1327:Zzef1'
ID 157253
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 039393-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1327 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 72687052-72817946 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 72784240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069395] [ENSMUST00000069395] [ENSMUST00000172220] [ENSMUST00000172220] [ENSMUST00000207107] [ENSMUST00000207107]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000069395
SMART Domains Protein: ENSMUSP00000068790
Gene: ENSMUSG00000055670

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 null
Transcript: ENSMUST00000069395
SMART Domains Protein: ENSMUSP00000068790
Gene: ENSMUSG00000055670

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 null
Transcript: ENSMUST00000172220
SMART Domains Protein: ENSMUSP00000130515
Gene: ENSMUSG00000055670

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 null
Transcript: ENSMUST00000172220
SMART Domains Protein: ENSMUSP00000130515
Gene: ENSMUSG00000055670

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 null
Transcript: ENSMUST00000207107
Predicted Effect probably null
Transcript: ENSMUST00000207107
Meta Mutation Damage Score 0.9583 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.8%
  • 20x: 88.1%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd3 T C 1: 180,560,748 (GRCm39) F99L possibly damaging Het
Arg1 T C 10: 24,796,702 (GRCm39) probably null Het
Bsnd C T 4: 106,343,809 (GRCm39) E166K probably benign Het
Cxcl9 A G 5: 92,474,709 (GRCm39) C30R probably damaging Het
Ect2l C T 10: 18,041,290 (GRCm39) R296H probably benign Het
Epha5 C A 5: 84,254,644 (GRCm39) D632Y probably damaging Het
Fbxw11 T C 11: 32,661,859 (GRCm39) Y79H probably benign Het
Fh1 A G 1: 175,437,310 (GRCm39) M263T probably benign Het
Mrgprb1 A T 7: 48,097,177 (GRCm39) I245N possibly damaging Het
Ms4a13 A T 19: 11,161,251 (GRCm39) I96N probably damaging Het
Nipa2 G A 7: 55,594,256 (GRCm39) L38F possibly damaging Het
Pappa T A 4: 65,269,840 (GRCm39) probably benign Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf111 A T 9: 70,361,098 (GRCm39) D454E possibly damaging Het
Rp1 C T 1: 4,418,193 (GRCm39) G973D probably benign Het
Rtn3 A G 19: 7,408,376 (GRCm39) V922A possibly damaging Het
Setbp1 T C 18: 78,826,573 (GRCm39) M1347V probably benign Het
Slc6a6 A G 6: 91,703,016 (GRCm39) I130V probably benign Het
Smad7 T C 18: 75,509,016 (GRCm39) S48P probably benign Het
Star A G 8: 26,299,865 (GRCm39) D69G probably benign Het
Syne1 C A 10: 4,998,925 (GRCm39) probably benign Het
Synj1 A T 16: 90,743,743 (GRCm39) N1212K probably benign Het
Tep1 T C 14: 51,090,556 (GRCm39) M721V probably benign Het
Txndc11 T C 16: 10,934,678 (GRCm39) D223G possibly damaging Het
Vit G A 17: 78,932,629 (GRCm39) D579N probably damaging Het
Zan T C 5: 137,464,173 (GRCm39) probably benign Het
Zfp1005 A T 2: 150,108,070 (GRCm39) H10L possibly damaging Het
Zfp318 A G 17: 46,724,189 (GRCm39) E2064G probably damaging Het
Zftraf1 T A 15: 76,533,376 (GRCm39) T121S probably damaging Het
Zic5 T G 14: 122,697,191 (GRCm39) probably benign 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
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
R2096:Zzef1 UTSW 11 72,763,465 (GRCm39) missense probably benign 0.02
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'- CCATGTTTATGTGGCCTAGCAGCTC -3'
(R):5'- CCGTCTGAAACCTTCCTGGATTGTG -3'

Sequencing Primer
(F):5'- TGCCTGAGAGACTAGCTAATGAC -3'
(R):5'- AAACCTTCCTGGATTGTGAGACC -3'
Posted On 2014-02-18