Incidental Mutation 'R3927:Zzef1'
ID 308338
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 040822-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3927 (G1)
Quality Score 189
Status Not validated
Chromosome 11
Chromosomal Location 72687052-72817946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72749208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 899 (S899P)
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: S899P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068790
Gene: ENSMUSG00000055670
AA Change: S899P

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 damaging
Transcript: ENSMUST00000172220
AA Change: S899P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130515
Gene: ENSMUSG00000055670
AA Change: S899P

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: S899P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency 95% (40/42)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A G 2: 103,538,563 (GRCm39) probably null Het
Alpk1 T C 3: 127,471,365 (GRCm39) H1039R probably damaging Het
Avpr1a A G 10: 122,285,616 (GRCm39) S303G probably benign Het
Axdnd1 A G 1: 156,246,840 (GRCm39) L79S probably damaging Het
Baz1a A G 12: 54,967,928 (GRCm39) I667T possibly damaging Het
Bend5 A G 4: 111,305,802 (GRCm39) Y282C possibly damaging Het
Clstn3 T C 6: 124,428,327 (GRCm39) D438G probably damaging Het
Cog3 A G 14: 75,980,998 (GRCm39) probably benign Het
Cyp2j6 T C 4: 96,441,525 (GRCm39) N55S probably benign Het
Eif4b G A 15: 101,992,745 (GRCm39) G101R probably damaging Het
Epha2 T C 4: 141,033,861 (GRCm39) L40P probably damaging Het
Fig4 A G 10: 41,139,135 (GRCm39) V356A probably benign Het
Hal T C 10: 93,349,888 (GRCm39) probably benign Het
Helz A G 11: 107,576,118 (GRCm39) Y1770C unknown Het
Meis3 A G 7: 15,911,419 (GRCm39) T39A probably benign Het
Nod1 G T 6: 54,921,902 (GRCm39) R139S probably benign Het
Or6n2 A T 1: 173,896,878 (GRCm39) N5Y probably damaging Het
Pacsin3 C T 2: 91,093,286 (GRCm39) probably null Het
Plekhh1 T A 12: 79,100,422 (GRCm39) I130N probably damaging Het
Plxna2 G A 1: 194,428,465 (GRCm39) E512K probably benign Het
Ppp1r9a A G 6: 5,057,531 (GRCm39) I215M probably damaging Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Sap130 A T 18: 31,807,435 (GRCm39) H414L possibly damaging Het
Slc33a1 A G 3: 63,871,145 (GRCm39) I156T probably benign Het
Slc37a2 G A 9: 37,146,803 (GRCm39) T338M probably damaging Het
Spinkl T A 18: 44,302,230 (GRCm39) probably null Het
Tmc5 T A 7: 118,251,878 (GRCm39) L657* probably null Het
Tmem217 A G 17: 29,745,677 (GRCm39) S18P probably damaging Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Tubb4a A G 17: 57,387,967 (GRCm39) V353A probably benign Het
Ube3b T C 5: 114,553,741 (GRCm39) F974L probably benign Het
Ubqln5 A G 7: 103,777,678 (GRCm39) L382P probably damaging Het
Ufsp2 T A 8: 46,436,723 (GRCm39) probably null Het
Unkl C T 17: 25,448,303 (GRCm39) T66I probably damaging Het
Xrn2 T A 2: 146,880,109 (GRCm39) N477K probably benign Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zzz3 T C 3: 152,161,499 (GRCm39) Y298H 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
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
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'- GGATGCTTTGAGATGGTCCA -3'
(R):5'- CTAGTGACTCTTACACCTAGGAAAA -3'

Sequencing Primer
(F):5'- ATGCTTTGAGATGGTCCAGTGGG -3'
(R):5'- TGACTCTTACACCTAGGAAAAACTTC -3'
Posted On 2015-04-17