Incidental Mutation 'R5328:Zfp106'
ID 422110
Institutional Source Beutler Lab
Gene Symbol Zfp106
Ensembl Gene ENSMUSG00000027288
Gene Name zinc finger protein 106
Synonyms Cd-1, H3a, Sh3bp3, sirm
MMRRC Submission 042843-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5328 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 120506820-120563843 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120520417 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1584 (N1584K)
Ref Sequence ENSEMBL: ENSMUSP00000128995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055241] [ENSMUST00000152347] [ENSMUST00000171215]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000055241
AA Change: N1607K

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000055602
Gene: ENSMUSG00000027288
AA Change: N1607K

DomainStartEndE-ValueType
ZnF_C2H2 5 29 1.51e0 SMART
ZnF_C2H2 43 67 7.18e1 SMART
low complexity region 75 92 N/A INTRINSIC
low complexity region 141 152 N/A INTRINSIC
low complexity region 199 212 N/A INTRINSIC
low complexity region 466 480 N/A INTRINSIC
coiled coil region 800 823 N/A INTRINSIC
low complexity region 842 856 N/A INTRINSIC
low complexity region 1049 1062 N/A INTRINSIC
low complexity region 1312 1321 N/A INTRINSIC
low complexity region 1361 1373 N/A INTRINSIC
low complexity region 1389 1409 N/A INTRINSIC
WD40 1525 1562 9.24e-4 SMART
WD40 1565 1607 1.83e-7 SMART
PQQ 1587 1618 3.42e2 SMART
WD40 1651 1691 3.45e-1 SMART
PQQ 1671 1702 9.14e1 SMART
WD40 1694 1731 2.12e-3 SMART
PQQ 1711 1742 6.42e0 SMART
WD40 1734 1771 6e-3 SMART
PQQ 1751 1782 5.7e2 SMART
WD40 1774 1811 3.58e-1 SMART
ZnF_C2H2 1818 1843 5.34e-1 SMART
ZnF_C2H2 1851 1879 1.31e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139942
Predicted Effect probably benign
Transcript: ENSMUST00000152347
SMART Domains Protein: ENSMUSP00000132902
Gene: ENSMUSG00000027288

DomainStartEndE-ValueType
low complexity region 66 75 N/A INTRINSIC
low complexity region 115 127 N/A INTRINSIC
low complexity region 143 163 N/A INTRINSIC
Pfam:WD40 234 265 1.3e-5 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171215
AA Change: N1584K

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128995
Gene: ENSMUSG00000027288
AA Change: N1584K

DomainStartEndE-ValueType
ZnF_C2H2 20 44 7.18e1 SMART
low complexity region 52 69 N/A INTRINSIC
low complexity region 118 129 N/A INTRINSIC
low complexity region 176 189 N/A INTRINSIC
low complexity region 443 457 N/A INTRINSIC
coiled coil region 777 800 N/A INTRINSIC
low complexity region 819 833 N/A INTRINSIC
low complexity region 1026 1039 N/A INTRINSIC
low complexity region 1289 1298 N/A INTRINSIC
low complexity region 1338 1350 N/A INTRINSIC
low complexity region 1366 1386 N/A INTRINSIC
WD40 1502 1539 9.24e-4 SMART
WD40 1542 1584 1.83e-7 SMART
PQQ 1564 1595 3.42e2 SMART
WD40 1628 1668 3.45e-1 SMART
PQQ 1648 1679 9.14e1 SMART
WD40 1671 1708 2.12e-3 SMART
PQQ 1688 1719 6.42e0 SMART
WD40 1711 1748 6e-3 SMART
PQQ 1728 1759 5.7e2 SMART
WD40 1751 1788 3.58e-1 SMART
ZnF_C2H2 1795 1820 5.34e-1 SMART
ZnF_C2H2 1828 1856 1.31e2 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit an abnormal gait, progressive motor deficits, kyphosis, weight loss, severe adult-onset degenerative sensory-motor axonopathy, mitochondrial dysfunction, and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,837,694 (GRCm38) V860E possibly damaging Het
Abcc6 T C 7: 45,992,311 (GRCm38) D881G probably benign Het
Abcc9 A G 6: 142,682,059 (GRCm38) V415A probably benign Het
Adgrb3 A C 1: 25,094,275 (GRCm38) N1003K possibly damaging Het
Adora3 C T 3: 105,907,303 (GRCm38) T123I probably benign Het
Amotl2 A C 9: 102,723,768 (GRCm38) T345P probably benign Het
Arap3 C T 18: 37,991,687 (GRCm38) E247K possibly damaging Het
Atp8b1 A T 18: 64,531,391 (GRCm38) D1235E probably benign Het
Axl A T 7: 25,773,411 (GRCm38) V400E probably damaging Het
Brd8 T A 18: 34,607,981 (GRCm38) N431Y probably benign Het
Cadps A T 14: 12,457,790 (GRCm38) N1025K probably benign Het
Cblc A T 7: 19,792,580 (GRCm38) S195T possibly damaging Het
Chd2 C T 7: 73,463,681 (GRCm38) A1184T possibly damaging Het
Chst10 G A 1: 38,895,962 (GRCm38) probably benign Het
Col12a1 T C 9: 79,620,060 (GRCm38) K2663E probably damaging Het
Cspg4 A T 9: 56,885,856 (GRCm38) I292L probably benign Het
Cul1 T C 6: 47,508,317 (GRCm38) V294A probably damaging Het
Cyp2d11 G A 15: 82,391,771 (GRCm38) P203L probably benign Het
Dscam T C 16: 96,673,678 (GRCm38) H1228R probably benign Het
Eif3l A T 15: 79,093,361 (GRCm38) K534* probably null Het
Enpep T C 3: 129,280,510 (GRCm38) E796G probably benign Het
Ext1 C A 15: 53,075,817 (GRCm38) W612L probably damaging Het
Faap100 T A 11: 120,377,632 (GRCm38) E105V possibly damaging Het
Fam117a T A 11: 95,364,170 (GRCm38) probably null Het
Fan1 A T 7: 64,354,469 (GRCm38) Y750N probably damaging Het
Fat4 T A 3: 38,956,868 (GRCm38) I2039N probably damaging Het
Gabrr2 G T 4: 33,082,565 (GRCm38) D106Y probably damaging Het
Gak A C 5: 108,617,001 (GRCm38) C145G possibly damaging Het
Galnt14 A T 17: 73,505,459 (GRCm38) N406K possibly damaging Het
Gm10439 T G X: 149,636,163 (GRCm38) *434E probably null Het
Gm10837 G T 14: 122,490,778 (GRCm38) R22L unknown Het
Gm19965 T A 1: 116,821,418 (GRCm38) H276Q possibly damaging Het
Gm43517 T C 12: 49,391,156 (GRCm38) probably benign Het
Gm9733 T C 3: 15,332,174 (GRCm38) M17V unknown Het
Greb1l A T 18: 10,553,720 (GRCm38) I1574F probably damaging Het
Gzme G A 14: 56,117,767 (GRCm38) H236Y probably benign Het
Heatr5b G A 17: 78,826,362 (GRCm38) T266I possibly damaging Het
Hk3 T C 13: 55,013,493 (GRCm38) I185V probably benign Het
Hnrnpr A G 4: 136,339,216 (GRCm38) E302G probably benign Het
Itgal T C 7: 127,311,675 (GRCm38) probably null Het
Itk A G 11: 46,331,876 (GRCm38) S583P probably benign Het
Loxhd1 A T 18: 77,410,572 (GRCm38) I1448F probably damaging Het
Macf1 GCCCCC GCCCCCC 4: 123,350,991 (GRCm38) probably null Het
Man2a2 A T 7: 80,368,756 (GRCm38) F118L probably benign Het
Mfsd5 T A 15: 102,281,012 (GRCm38) V273E probably damaging Het
Nfe2l2 A G 2: 75,676,856 (GRCm38) L300P probably damaging Het
Nt5c1a T G 4: 123,208,993 (GRCm38) L122R possibly damaging Het
Nt5c3b A G 11: 100,440,241 (GRCm38) F42S probably damaging Het
Olfr332 C A 11: 58,490,429 (GRCm38) A109S possibly damaging Het
Olfr577 T A 7: 102,973,968 (GRCm38) N8I possibly damaging Het
Pabpc1 A T 15: 36,602,877 (GRCm38) D204E probably benign Het
Panx2 A G 15: 89,068,095 (GRCm38) N255S probably damaging Het
Pcnt A G 10: 76,411,719 (GRCm38) L993P probably damaging Het
Pfas A T 11: 68,988,592 (GRCm38) C1160S probably damaging Het
Plekhh3 T A 11: 101,167,658 (GRCm38) probably benign Het
Plod3 T A 5: 136,989,683 (GRCm38) N258K probably damaging Het
Prr14l T C 5: 32,830,021 (GRCm38) Q710R probably benign Het
Rnf216 G T 5: 143,092,999 (GRCm38) T65K possibly damaging Het
Samd9l T C 6: 3,376,739 (GRCm38) E174G probably damaging Het
Sept12 T A 16: 4,993,993 (GRCm38) M63L possibly damaging Het
Sh3bgrl2 T A 9: 83,577,456 (GRCm38) D22E probably benign Het
Skil A G 3: 31,117,569 (GRCm38) K488R probably benign Het
Slamf6 T A 1: 171,938,095 (GRCm38) I262K probably benign Het
Slc27a3 T C 3: 90,386,832 (GRCm38) D470G probably damaging Het
Sorbs3 A T 14: 70,181,174 (GRCm38) V680E probably damaging Het
Sox9 C T 11: 112,782,658 (GRCm38) T25I probably benign Het
Srsf1 G T 11: 88,049,993 (GRCm38) probably benign Het
Stard9 A C 2: 120,699,230 (GRCm38) E1989D probably damaging Het
Thumpd2 T A 17: 81,044,162 (GRCm38) I277F possibly damaging Het
Tinag C A 9: 77,005,631 (GRCm38) G299* probably null Het
Tk2 A T 8: 104,229,299 (GRCm38) probably null Het
Tmem44 A G 16: 30,540,891 (GRCm38) S210P possibly damaging Het
Traf3ip1 C A 1: 91,520,069 (GRCm38) P423T probably damaging Het
Trmt12 A G 15: 58,872,855 (GRCm38) D34G probably damaging Het
Ttc39b A G 4: 83,261,941 (GRCm38) Y72H probably damaging Het
Ttn G A 2: 76,878,411 (GRCm38) probably benign Het
Ttyh2 T A 11: 114,710,068 (GRCm38) I381N possibly damaging Het
Uaca A T 9: 60,870,532 (GRCm38) N734Y probably benign Het
Usp34 G A 11: 23,488,659 (GRCm38) G3407D probably benign Het
Usp34 T C 11: 23,464,616 (GRCm38) I2853T probably benign Het
Vmn2r78 A G 7: 86,921,030 (GRCm38) Y252C probably damaging Het
Wdr19 G A 5: 65,244,179 (GRCm38) C979Y probably damaging Het
Wdr92 C A 11: 17,222,220 (GRCm38) P103Q probably damaging Het
Yeats2 A T 16: 20,171,205 (GRCm38) H277L probably damaging Het
Zbtb2 T C 10: 4,369,267 (GRCm38) Y253C possibly damaging Het
Zfat C A 15: 68,179,828 (GRCm38) G706C probably damaging Het
Other mutations in Zfp106
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Zfp106 APN 2 120,539,497 (GRCm38) missense probably benign 0.45
IGL00816:Zfp106 APN 2 120,526,848 (GRCm38) missense probably benign 0.02
IGL00822:Zfp106 APN 2 120,514,160 (GRCm38) missense probably damaging 1.00
IGL00848:Zfp106 APN 2 120,512,727 (GRCm38) missense probably damaging 1.00
IGL01293:Zfp106 APN 2 120,535,035 (GRCm38) missense possibly damaging 0.92
IGL01323:Zfp106 APN 2 120,524,464 (GRCm38) missense possibly damaging 0.74
IGL01662:Zfp106 APN 2 120,523,553 (GRCm38) missense probably benign 0.17
IGL01683:Zfp106 APN 2 120,524,555 (GRCm38) missense probably benign 0.00
IGL01809:Zfp106 APN 2 120,533,671 (GRCm38) missense probably damaging 1.00
IGL01958:Zfp106 APN 2 120,534,807 (GRCm38) missense probably benign 0.26
IGL01960:Zfp106 APN 2 120,539,322 (GRCm38) missense probably benign 0.08
IGL01960:Zfp106 APN 2 120,524,043 (GRCm38) missense probably damaging 0.99
IGL02168:Zfp106 APN 2 120,534,231 (GRCm38) missense possibly damaging 0.90
IGL02623:Zfp106 APN 2 120,545,914 (GRCm38) splice site probably null
IGL02798:Zfp106 APN 2 120,510,510 (GRCm38) missense probably damaging 1.00
IGL02828:Zfp106 APN 2 120,531,697 (GRCm38) missense possibly damaging 0.86
IGL03022:Zfp106 APN 2 120,528,639 (GRCm38) splice site probably benign
IGL03308:Zfp106 APN 2 120,524,024 (GRCm38) missense probably benign 0.00
IGL03324:Zfp106 APN 2 120,535,387 (GRCm38) missense probably benign 0.01
lepton UTSW 2 120,532,104 (GRCm38) missense probably damaging 0.98
Proton UTSW 2 120,510,534 (GRCm38) missense probably damaging 1.00
quark UTSW 2 120,535,060 (GRCm38) nonsense probably null
R0040_zfp106_031 UTSW 2 120,531,613 (GRCm38) missense probably damaging 1.00
string UTSW 2 120,533,594 (GRCm38) missense probably damaging 0.96
theory UTSW 2 120,533,677 (GRCm38) nonsense probably null
R0040:Zfp106 UTSW 2 120,531,613 (GRCm38) missense probably damaging 1.00
R0040:Zfp106 UTSW 2 120,531,613 (GRCm38) missense probably damaging 1.00
R0135:Zfp106 UTSW 2 120,520,487 (GRCm38) missense probably damaging 0.99
R0180:Zfp106 UTSW 2 120,533,875 (GRCm38) missense probably damaging 0.96
R0387:Zfp106 UTSW 2 120,528,472 (GRCm38) splice site probably null
R0558:Zfp106 UTSW 2 120,532,196 (GRCm38) missense probably damaging 1.00
R0680:Zfp106 UTSW 2 120,527,016 (GRCm38) missense probably damaging 1.00
R0729:Zfp106 UTSW 2 120,555,248 (GRCm38) missense probably damaging 0.99
R0828:Zfp106 UTSW 2 120,535,603 (GRCm38) missense probably benign 0.00
R1124:Zfp106 UTSW 2 120,534,714 (GRCm38) missense probably benign 0.00
R1147:Zfp106 UTSW 2 120,520,536 (GRCm38) missense probably damaging 1.00
R1147:Zfp106 UTSW 2 120,520,536 (GRCm38) missense probably damaging 1.00
R1226:Zfp106 UTSW 2 120,524,079 (GRCm38) missense probably damaging 1.00
R1239:Zfp106 UTSW 2 120,533,594 (GRCm38) missense probably damaging 0.96
R1634:Zfp106 UTSW 2 120,533,677 (GRCm38) nonsense probably null
R1754:Zfp106 UTSW 2 120,533,764 (GRCm38) missense probably damaging 0.98
R1754:Zfp106 UTSW 2 120,533,763 (GRCm38) missense probably damaging 0.96
R1755:Zfp106 UTSW 2 120,535,175 (GRCm38) missense probably damaging 1.00
R1763:Zfp106 UTSW 2 120,520,428 (GRCm38) missense probably benign 0.03
R1875:Zfp106 UTSW 2 120,513,615 (GRCm38) critical splice donor site probably null
R1903:Zfp106 UTSW 2 120,526,848 (GRCm38) missense probably benign 0.02
R1932:Zfp106 UTSW 2 120,531,681 (GRCm38) missense possibly damaging 0.80
R2070:Zfp106 UTSW 2 120,523,529 (GRCm38) missense probably benign 0.11
R2301:Zfp106 UTSW 2 120,535,650 (GRCm38) missense probably benign 0.04
R3429:Zfp106 UTSW 2 120,527,063 (GRCm38) missense probably benign 0.00
R3720:Zfp106 UTSW 2 120,534,599 (GRCm38) missense probably benign 0.01
R3875:Zfp106 UTSW 2 120,534,613 (GRCm38) missense probably benign 0.08
R3881:Zfp106 UTSW 2 120,532,149 (GRCm38) missense probably benign 0.01
R3921:Zfp106 UTSW 2 120,533,616 (GRCm38) missense probably damaging 1.00
R3923:Zfp106 UTSW 2 120,534,856 (GRCm38) missense probably damaging 0.99
R4087:Zfp106 UTSW 2 120,526,899 (GRCm38) splice site probably null
R4678:Zfp106 UTSW 2 120,533,740 (GRCm38) missense probably damaging 1.00
R4965:Zfp106 UTSW 2 120,533,919 (GRCm38) missense probably damaging 0.98
R5011:Zfp106 UTSW 2 120,510,534 (GRCm38) missense probably damaging 1.00
R5013:Zfp106 UTSW 2 120,510,534 (GRCm38) missense probably damaging 1.00
R5151:Zfp106 UTSW 2 120,534,727 (GRCm38) missense probably benign 0.01
R5227:Zfp106 UTSW 2 120,523,968 (GRCm38) missense probably benign 0.11
R5403:Zfp106 UTSW 2 120,534,781 (GRCm38) missense probably benign 0.02
R5624:Zfp106 UTSW 2 120,531,957 (GRCm38) missense probably damaging 0.99
R5686:Zfp106 UTSW 2 120,533,507 (GRCm38) splice site probably null
R5691:Zfp106 UTSW 2 120,524,471 (GRCm38) missense probably damaging 0.99
R5852:Zfp106 UTSW 2 120,516,006 (GRCm38) missense probably damaging 1.00
R6032:Zfp106 UTSW 2 120,535,393 (GRCm38) missense probably benign 0.00
R6032:Zfp106 UTSW 2 120,535,393 (GRCm38) missense probably benign 0.00
R6298:Zfp106 UTSW 2 120,522,704 (GRCm38) missense probably damaging 1.00
R6409:Zfp106 UTSW 2 120,532,104 (GRCm38) missense probably damaging 0.98
R6505:Zfp106 UTSW 2 120,534,502 (GRCm38) missense probably damaging 0.99
R6598:Zfp106 UTSW 2 120,535,060 (GRCm38) nonsense probably null
R6765:Zfp106 UTSW 2 120,539,454 (GRCm38) missense probably damaging 0.96
R7013:Zfp106 UTSW 2 120,531,632 (GRCm38) missense probably damaging 0.99
R7453:Zfp106 UTSW 2 120,545,919 (GRCm38) splice site probably null
R7453:Zfp106 UTSW 2 120,510,527 (GRCm38) missense probably damaging 1.00
R7643:Zfp106 UTSW 2 120,512,734 (GRCm38) missense probably benign 0.01
R7829:Zfp106 UTSW 2 120,524,057 (GRCm38) missense possibly damaging 0.94
R7897:Zfp106 UTSW 2 120,535,615 (GRCm38) nonsense probably null
R7909:Zfp106 UTSW 2 120,514,219 (GRCm38) missense probably damaging 1.00
R8054:Zfp106 UTSW 2 120,524,519 (GRCm38) missense possibly damaging 0.93
R8124:Zfp106 UTSW 2 120,524,331 (GRCm38) missense probably benign 0.44
R8203:Zfp106 UTSW 2 120,519,078 (GRCm38) missense probably damaging 1.00
R8350:Zfp106 UTSW 2 120,535,618 (GRCm38) missense
R8450:Zfp106 UTSW 2 120,535,618 (GRCm38) missense
R8698:Zfp106 UTSW 2 120,524,119 (GRCm38) critical splice donor site probably null
R8985:Zfp106 UTSW 2 120,535,596 (GRCm38) missense
R9015:Zfp106 UTSW 2 120,533,538 (GRCm38) missense probably damaging 1.00
R9036:Zfp106 UTSW 2 120,539,425 (GRCm38) missense probably damaging 1.00
R9142:Zfp106 UTSW 2 120,520,454 (GRCm38) missense probably damaging 1.00
R9154:Zfp106 UTSW 2 120,534,331 (GRCm38) nonsense probably null
R9175:Zfp106 UTSW 2 120,522,716 (GRCm38) missense probably damaging 1.00
R9529:Zfp106 UTSW 2 120,520,526 (GRCm38) missense probably damaging 0.97
R9572:Zfp106 UTSW 2 120,519,078 (GRCm38) missense probably damaging 1.00
R9581:Zfp106 UTSW 2 120,535,326 (GRCm38) missense
RF008:Zfp106 UTSW 2 120,524,545 (GRCm38) small deletion probably benign
RF025:Zfp106 UTSW 2 120,524,545 (GRCm38) small deletion probably benign
X0025:Zfp106 UTSW 2 120,534,816 (GRCm38) missense probably benign
Z1088:Zfp106 UTSW 2 120,530,490 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTACAGCACAAAATCAGCAGATA -3'
(R):5'- ATGTGACTTTGCTTGGCAGTTAG -3'

Sequencing Primer
(F):5'- CAGCACAAAATCAGCAGATAATAATG -3'
(R):5'- CCATCTTGAACCTCAGGAATGGG -3'
Posted On 2016-08-04