Incidental Mutation 'R1763:Zfp106'
ID 193169
Institutional Source Beutler Lab
Gene Symbol Zfp106
Ensembl Gene ENSMUSG00000027288
Gene Name zinc finger protein 106
Synonyms Cd-1, H3a, Sh3bp3, sirm
MMRRC Submission 039795-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1763 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 120337301-120394324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120350909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1581 (R1581C)
Ref Sequence ENSEMBL: ENSMUSP00000128995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055241] [ENSMUST00000152347] [ENSMUST00000171215]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000055241
AA Change: R1604C

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000055602
Gene: ENSMUSG00000027288
AA Change: R1604C

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 probably benign
Transcript: ENSMUST00000171215
AA Change: R1581C

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000128995
Gene: ENSMUSG00000027288
AA Change: R1581C

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
Meta Mutation Damage Score 0.1117 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency 98% (85/87)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,396,529 (GRCm39) V401A probably benign Het
Abca4 G A 3: 121,904,330 (GRCm39) V794M probably benign Het
Abca4 A T 3: 121,957,479 (GRCm39) T772S probably damaging Het
Acox3 G A 5: 35,765,683 (GRCm39) probably null Het
Adamts17 A G 7: 66,797,463 (GRCm39) N1060S probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Als2 T C 1: 59,214,150 (GRCm39) Y1346C probably benign Het
Apol10b A T 15: 77,469,215 (GRCm39) F321I probably benign Het
Atp5pb A G 3: 105,858,905 (GRCm39) probably null Het
Bloc1s5 A G 13: 38,803,060 (GRCm39) probably benign Het
Btbd9 T C 17: 30,553,271 (GRCm39) N397S possibly damaging Het
Cacna1d A G 14: 29,821,153 (GRCm39) V1121A probably benign Het
Cad G A 5: 31,218,295 (GRCm39) V460I probably damaging Het
Caprin2 A T 6: 148,744,619 (GRCm39) D935E probably damaging Het
Ccdc150 A T 1: 54,393,795 (GRCm39) K686N probably benign Het
Ccnt2 T C 1: 127,727,143 (GRCm39) F186L possibly damaging Het
Cd5l G A 3: 87,275,187 (GRCm39) probably null Het
Chrna7 A G 7: 62,749,000 (GRCm39) V494A probably benign Het
Clec2i T G 6: 128,872,388 (GRCm39) Y198* probably null Het
Col22a1 A G 15: 71,879,025 (GRCm39) V44A probably damaging Het
Cspg4 T A 9: 56,794,263 (GRCm39) I666N probably damaging Het
Cyp3a16 A T 5: 145,401,841 (GRCm39) probably null Het
Dlk1 G T 12: 109,424,045 (GRCm39) C102F probably damaging Het
Dscc1 CTGAATGAAT CTGAAT 15: 54,943,572 (GRCm39) probably benign Het
Dscc1 T A 15: 54,947,535 (GRCm39) H215L probably damaging Het
Dus1l C G 11: 120,686,497 (GRCm39) G15R probably benign Het
Eps8l1 G T 7: 4,474,822 (GRCm39) V268L probably benign Het
F2 A C 2: 91,465,251 (GRCm39) C104W probably damaging Het
F5 C A 1: 164,020,104 (GRCm39) Q860K probably benign Het
Fmn2 T C 1: 174,329,832 (GRCm39) L74P unknown Het
Frmd6 G A 12: 70,940,396 (GRCm39) R347Q possibly damaging Het
Gabbr1 T G 17: 37,365,659 (GRCm39) S158A probably damaging Het
Galc T C 12: 98,200,525 (GRCm39) N295S probably damaging Het
Gm6408 A T 5: 146,419,132 (GRCm39) N49I probably damaging Het
Grm1 T A 10: 10,955,610 (GRCm39) T225S possibly damaging Het
Grm8 C T 6: 27,285,866 (GRCm39) V849I possibly damaging Het
Hmcn2 A G 2: 31,204,602 (GRCm39) D59G probably damaging Het
Iars1 G A 13: 49,876,553 (GRCm39) probably null Het
Ifi27l2a C T 12: 103,403,941 (GRCm39) A127V possibly damaging Het
Ikbip A G 10: 90,932,343 (GRCm39) N329S probably damaging Het
Ikbke T C 1: 131,193,614 (GRCm39) T479A probably benign Het
Krt12 T A 11: 99,306,886 (GRCm39) N472I probably damaging Het
Lmnb2 A T 10: 80,743,025 (GRCm39) L193Q probably damaging Het
Lrriq4 T C 3: 30,704,401 (GRCm39) V128A probably benign Het
Map4k4 C A 1: 40,039,917 (GRCm39) probably benign Het
Mtmr7 T C 8: 41,004,852 (GRCm39) T575A probably benign Het
Myh13 G A 11: 67,225,402 (GRCm39) A256T probably benign Het
Napepld A G 5: 21,888,408 (GRCm39) Y14H probably benign Het
Npr1 T C 3: 90,366,644 (GRCm39) T552A probably damaging Het
Nudt15 A G 14: 73,759,087 (GRCm39) F127S probably benign Het
Nwd2 T A 5: 63,965,614 (GRCm39) S1733T probably benign Het
Or11a4 T C 17: 37,536,321 (GRCm39) F102L probably benign Het
Or4c102 A G 2: 88,422,780 (GRCm39) I211V probably benign Het
Or4c10b G A 2: 89,711,473 (GRCm39) G101E probably damaging Het
Or6z1 T G 7: 6,504,440 (GRCm39) I262L probably benign Het
Or8b44 A G 9: 38,410,334 (GRCm39) Y123C probably damaging Het
Paqr7 A T 4: 134,234,409 (GRCm39) I89F probably benign Het
Pidd1 C A 7: 141,019,543 (GRCm39) V706L probably benign Het
Polr3c A T 3: 96,620,911 (GRCm39) I469N probably damaging Het
Ppip5k1 A G 2: 121,179,028 (GRCm39) Y233H probably damaging Het
Psmc3 A G 2: 90,886,340 (GRCm39) T166A possibly damaging Het
Ptchd3 A T 11: 121,733,368 (GRCm39) I753L probably benign Het
Rad21 T C 15: 51,841,566 (GRCm39) K50R probably damaging Het
Rad54b A G 4: 11,604,989 (GRCm39) E479G possibly damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rgs20 C T 1: 4,980,863 (GRCm39) R154Q probably damaging Het
Sbf1 T C 15: 89,178,628 (GRCm39) D1449G probably damaging Het
Sema4g C T 19: 44,990,044 (GRCm39) R708* probably null Het
Septin9 T C 11: 117,181,254 (GRCm39) I18T probably benign Het
Serpinb6b A G 13: 33,162,041 (GRCm39) E280G probably damaging Het
Slamf6 T C 1: 171,770,154 (GRCm39) probably benign Het
Slc6a21 G A 7: 44,937,158 (GRCm39) W554* probably null Het
Slco1a4 A C 6: 141,758,457 (GRCm39) I518R probably benign Het
Stab1 T A 14: 30,890,373 (GRCm39) Q26L probably benign Het
Stox1 A G 10: 62,503,744 (GRCm39) F104L probably damaging Het
Suco T C 1: 161,662,518 (GRCm39) K638E possibly damaging Het
Synpo T C 18: 60,735,856 (GRCm39) K458E probably damaging Het
Szt2 A T 4: 118,229,565 (GRCm39) W2820R unknown Het
Tmtc1 C A 6: 148,196,116 (GRCm39) G499W probably damaging Het
Tonsl A C 15: 76,522,266 (GRCm39) S242R probably damaging Het
Trpc4 G T 3: 54,102,243 (GRCm39) S47I possibly damaging Het
Zfp27 A G 7: 29,594,801 (GRCm39) L388P possibly damaging Het
Other mutations in Zfp106
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Zfp106 APN 2 120,369,978 (GRCm39) missense probably benign 0.45
IGL00816:Zfp106 APN 2 120,357,329 (GRCm39) missense probably benign 0.02
IGL00822:Zfp106 APN 2 120,344,641 (GRCm39) missense probably damaging 1.00
IGL00848:Zfp106 APN 2 120,343,208 (GRCm39) missense probably damaging 1.00
IGL01293:Zfp106 APN 2 120,365,516 (GRCm39) missense possibly damaging 0.92
IGL01323:Zfp106 APN 2 120,354,945 (GRCm39) missense possibly damaging 0.74
IGL01662:Zfp106 APN 2 120,354,034 (GRCm39) missense probably benign 0.17
IGL01683:Zfp106 APN 2 120,355,036 (GRCm39) missense probably benign 0.00
IGL01809:Zfp106 APN 2 120,364,152 (GRCm39) missense probably damaging 1.00
IGL01958:Zfp106 APN 2 120,365,288 (GRCm39) missense probably benign 0.26
IGL01960:Zfp106 APN 2 120,369,803 (GRCm39) missense probably benign 0.08
IGL01960:Zfp106 APN 2 120,354,524 (GRCm39) missense probably damaging 0.99
IGL02168:Zfp106 APN 2 120,364,712 (GRCm39) missense possibly damaging 0.90
IGL02623:Zfp106 APN 2 120,376,395 (GRCm39) splice site probably null
IGL02798:Zfp106 APN 2 120,340,991 (GRCm39) missense probably damaging 1.00
IGL02828:Zfp106 APN 2 120,362,178 (GRCm39) missense possibly damaging 0.86
IGL03022:Zfp106 APN 2 120,359,120 (GRCm39) splice site probably benign
IGL03308:Zfp106 APN 2 120,354,505 (GRCm39) missense probably benign 0.00
IGL03324:Zfp106 APN 2 120,365,868 (GRCm39) missense probably benign 0.01
lepton UTSW 2 120,362,585 (GRCm39) missense probably damaging 0.98
Proton UTSW 2 120,341,015 (GRCm39) missense probably damaging 1.00
quark UTSW 2 120,365,541 (GRCm39) nonsense probably null
R0040_zfp106_031 UTSW 2 120,362,094 (GRCm39) missense probably damaging 1.00
string UTSW 2 120,364,075 (GRCm39) missense probably damaging 0.96
theory UTSW 2 120,364,158 (GRCm39) nonsense probably null
R0040:Zfp106 UTSW 2 120,362,094 (GRCm39) missense probably damaging 1.00
R0040:Zfp106 UTSW 2 120,362,094 (GRCm39) missense probably damaging 1.00
R0135:Zfp106 UTSW 2 120,350,968 (GRCm39) missense probably damaging 0.99
R0180:Zfp106 UTSW 2 120,364,356 (GRCm39) missense probably damaging 0.96
R0387:Zfp106 UTSW 2 120,358,953 (GRCm39) splice site probably null
R0558:Zfp106 UTSW 2 120,362,677 (GRCm39) missense probably damaging 1.00
R0680:Zfp106 UTSW 2 120,357,497 (GRCm39) missense probably damaging 1.00
R0729:Zfp106 UTSW 2 120,385,729 (GRCm39) missense probably damaging 0.99
R0828:Zfp106 UTSW 2 120,366,084 (GRCm39) missense probably benign 0.00
R1124:Zfp106 UTSW 2 120,365,195 (GRCm39) missense probably benign 0.00
R1147:Zfp106 UTSW 2 120,351,017 (GRCm39) missense probably damaging 1.00
R1147:Zfp106 UTSW 2 120,351,017 (GRCm39) missense probably damaging 1.00
R1226:Zfp106 UTSW 2 120,354,560 (GRCm39) missense probably damaging 1.00
R1239:Zfp106 UTSW 2 120,364,075 (GRCm39) missense probably damaging 0.96
R1634:Zfp106 UTSW 2 120,364,158 (GRCm39) nonsense probably null
R1754:Zfp106 UTSW 2 120,364,245 (GRCm39) missense probably damaging 0.98
R1754:Zfp106 UTSW 2 120,364,244 (GRCm39) missense probably damaging 0.96
R1755:Zfp106 UTSW 2 120,365,656 (GRCm39) missense probably damaging 1.00
R1875:Zfp106 UTSW 2 120,344,096 (GRCm39) critical splice donor site probably null
R1903:Zfp106 UTSW 2 120,357,329 (GRCm39) missense probably benign 0.02
R1932:Zfp106 UTSW 2 120,362,162 (GRCm39) missense possibly damaging 0.80
R2070:Zfp106 UTSW 2 120,354,010 (GRCm39) missense probably benign 0.11
R2301:Zfp106 UTSW 2 120,366,131 (GRCm39) missense probably benign 0.04
R3429:Zfp106 UTSW 2 120,357,544 (GRCm39) missense probably benign 0.00
R3720:Zfp106 UTSW 2 120,365,080 (GRCm39) missense probably benign 0.01
R3875:Zfp106 UTSW 2 120,365,094 (GRCm39) missense probably benign 0.08
R3881:Zfp106 UTSW 2 120,362,630 (GRCm39) missense probably benign 0.01
R3921:Zfp106 UTSW 2 120,364,097 (GRCm39) missense probably damaging 1.00
R3923:Zfp106 UTSW 2 120,365,337 (GRCm39) missense probably damaging 0.99
R4087:Zfp106 UTSW 2 120,357,380 (GRCm39) splice site probably null
R4678:Zfp106 UTSW 2 120,364,221 (GRCm39) missense probably damaging 1.00
R4965:Zfp106 UTSW 2 120,364,400 (GRCm39) missense probably damaging 0.98
R5011:Zfp106 UTSW 2 120,341,015 (GRCm39) missense probably damaging 1.00
R5013:Zfp106 UTSW 2 120,341,015 (GRCm39) missense probably damaging 1.00
R5151:Zfp106 UTSW 2 120,365,208 (GRCm39) missense probably benign 0.01
R5227:Zfp106 UTSW 2 120,354,449 (GRCm39) missense probably benign 0.11
R5328:Zfp106 UTSW 2 120,350,898 (GRCm39) missense possibly damaging 0.73
R5403:Zfp106 UTSW 2 120,365,262 (GRCm39) missense probably benign 0.02
R5624:Zfp106 UTSW 2 120,362,438 (GRCm39) missense probably damaging 0.99
R5686:Zfp106 UTSW 2 120,363,988 (GRCm39) splice site probably null
R5691:Zfp106 UTSW 2 120,354,952 (GRCm39) missense probably damaging 0.99
R5852:Zfp106 UTSW 2 120,346,487 (GRCm39) missense probably damaging 1.00
R6032:Zfp106 UTSW 2 120,365,874 (GRCm39) missense probably benign 0.00
R6032:Zfp106 UTSW 2 120,365,874 (GRCm39) missense probably benign 0.00
R6298:Zfp106 UTSW 2 120,353,185 (GRCm39) missense probably damaging 1.00
R6409:Zfp106 UTSW 2 120,362,585 (GRCm39) missense probably damaging 0.98
R6505:Zfp106 UTSW 2 120,364,983 (GRCm39) missense probably damaging 0.99
R6598:Zfp106 UTSW 2 120,365,541 (GRCm39) nonsense probably null
R6765:Zfp106 UTSW 2 120,369,935 (GRCm39) missense probably damaging 0.96
R7013:Zfp106 UTSW 2 120,362,113 (GRCm39) missense probably damaging 0.99
R7453:Zfp106 UTSW 2 120,376,400 (GRCm39) splice site probably null
R7453:Zfp106 UTSW 2 120,341,008 (GRCm39) missense probably damaging 1.00
R7643:Zfp106 UTSW 2 120,343,215 (GRCm39) missense probably benign 0.01
R7829:Zfp106 UTSW 2 120,354,538 (GRCm39) missense possibly damaging 0.94
R7897:Zfp106 UTSW 2 120,366,096 (GRCm39) nonsense probably null
R7909:Zfp106 UTSW 2 120,344,700 (GRCm39) missense probably damaging 1.00
R8054:Zfp106 UTSW 2 120,355,000 (GRCm39) missense possibly damaging 0.93
R8124:Zfp106 UTSW 2 120,354,812 (GRCm39) missense probably benign 0.44
R8203:Zfp106 UTSW 2 120,349,559 (GRCm39) missense probably damaging 1.00
R8350:Zfp106 UTSW 2 120,366,099 (GRCm39) missense
R8450:Zfp106 UTSW 2 120,366,099 (GRCm39) missense
R8698:Zfp106 UTSW 2 120,354,600 (GRCm39) critical splice donor site probably null
R8985:Zfp106 UTSW 2 120,366,077 (GRCm39) missense
R9015:Zfp106 UTSW 2 120,364,019 (GRCm39) missense probably damaging 1.00
R9036:Zfp106 UTSW 2 120,369,906 (GRCm39) missense probably damaging 1.00
R9142:Zfp106 UTSW 2 120,350,935 (GRCm39) missense probably damaging 1.00
R9154:Zfp106 UTSW 2 120,364,812 (GRCm39) nonsense probably null
R9175:Zfp106 UTSW 2 120,353,197 (GRCm39) missense probably damaging 1.00
R9529:Zfp106 UTSW 2 120,351,007 (GRCm39) missense probably damaging 0.97
R9572:Zfp106 UTSW 2 120,349,559 (GRCm39) missense probably damaging 1.00
R9581:Zfp106 UTSW 2 120,365,807 (GRCm39) missense
RF008:Zfp106 UTSW 2 120,355,026 (GRCm39) small deletion probably benign
RF025:Zfp106 UTSW 2 120,355,026 (GRCm39) small deletion probably benign
X0025:Zfp106 UTSW 2 120,365,297 (GRCm39) missense probably benign
Z1088:Zfp106 UTSW 2 120,360,971 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCAGGCTGAGTACTGGCCTA -3'
(R):5'- GGGAGTACTAATCTGACCTGTGCTTGAC -3'

Sequencing Primer
(F):5'- aactttaccaactgacttatttccc -3'
(R):5'- TGCTTGACCTTAGAGTCGAAAG -3'
Posted On 2014-05-23