Incidental Mutation 'R4359:Zzef1'
ID 324820
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 041670-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4359 (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 A at 72714334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 275 (S275T)
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 damaging
Transcript: ENSMUST00000069395
AA Change: S275T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068790
Gene: ENSMUSG00000055670
AA Change: S275T

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: ENSMUST00000150551
Predicted Effect possibly damaging
Transcript: ENSMUST00000172220
AA Change: S275T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130515
Gene: ENSMUSG00000055670
AA Change: S275T

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 damaging
Transcript: ENSMUST00000207107
AA Change: S275T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,247,629 (GRCm39) V2459F probably benign Het
Acot1 T C 12: 84,061,314 (GRCm39) Y207H probably damaging Het
Anapc1 A G 2: 128,465,476 (GRCm39) V1668A possibly damaging Het
Atr T A 9: 95,833,589 (GRCm39) I2613N probably damaging Het
Baz2b A G 2: 59,731,957 (GRCm39) I2027T possibly damaging Het
C2cd3 T G 7: 100,090,296 (GRCm39) H466Q probably damaging Het
Cdc14b T A 13: 64,396,225 (GRCm39) I15F probably benign Het
Cep135 G T 5: 76,759,561 (GRCm39) K438N possibly damaging Het
Cnot1 T C 8: 96,466,476 (GRCm39) D1587G probably damaging Het
Cxcl16 C A 11: 70,349,631 (GRCm39) V65L possibly damaging Het
Dhx36 T A 3: 62,382,699 (GRCm39) T783S probably benign Het
Disp3 T C 4: 148,356,389 (GRCm39) N157S probably benign Het
Efcab3 G T 11: 104,624,547 (GRCm39) probably null Het
Fem1al A T 11: 29,774,669 (GRCm39) S263T probably benign Het
Gfod2 T C 8: 106,444,177 (GRCm39) N122S possibly damaging Het
Grin3b T A 10: 79,808,731 (GRCm39) D160E probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Htr1b C A 9: 81,514,404 (GRCm39) A68S probably benign Het
Ifit2 A T 19: 34,550,544 (GRCm39) D28V possibly damaging Het
Ifna15 G T 4: 88,476,079 (GRCm39) T135N probably benign Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Kif24 A G 4: 41,413,827 (GRCm39) probably null Het
Klhl25 T C 7: 75,516,480 (GRCm39) V462A probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
L3mbtl3 A G 10: 26,203,639 (GRCm39) V397A unknown Het
Lpcat2 C A 8: 93,599,734 (GRCm39) P234Q probably benign Het
Lrp1b A C 2: 40,793,077 (GRCm39) C2532W probably damaging Het
Malt1 T C 18: 65,609,300 (GRCm39) V768A probably benign Het
Mindy3 A T 2: 12,401,020 (GRCm39) W233R probably damaging Het
Ncor1 T C 11: 62,249,736 (GRCm39) K1054R probably damaging Het
Nin T A 12: 70,061,712 (GRCm39) T2051S probably benign Het
Or10j5 C A 1: 172,784,647 (GRCm39) A95E probably benign Het
Or51ac3 A G 7: 103,213,742 (GRCm39) F248S probably benign Het
Pcsk1 T C 13: 75,260,838 (GRCm39) S354P possibly damaging Het
Pilra T C 5: 137,829,576 (GRCm39) T160A probably benign Het
Plekha5 G C 6: 140,537,414 (GRCm39) E540D probably benign Het
Prps2 T A X: 166,146,545 (GRCm39) K176* probably null Het
Rasgrf2 C A 13: 92,038,796 (GRCm39) D1017Y probably damaging Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Spsb1 T C 4: 149,991,232 (GRCm39) H112R probably damaging Het
Srd5a3 T A 5: 76,295,547 (GRCm39) F79Y probably damaging Het
Stxbp4 C T 11: 90,385,470 (GRCm39) W506* probably null Het
Timeless C A 10: 128,083,211 (GRCm39) Q653K probably benign Het
Trio G A 15: 27,749,883 (GRCm39) Q1129* probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M 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
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
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
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'- TTGGTGCCAAAGGGTTAAGC -3'
(R):5'- TCCAGAAAGCTGAGTTATAGGTTAG -3'

Sequencing Primer
(F):5'- GCCAAAGGGTTAAGCATGTTTC -3'
(R):5'- GAAAGCTGAGTTATAGGTTAGCTAAC -3'
Posted On 2015-07-06