Incidental Mutation 'R1755:Zfp106'
ID 194757
Institutional Source Beutler Lab
Gene Symbol Zfp106
Ensembl Gene ENSMUSG00000027288
Gene Name zinc finger protein 106
Synonyms Cd-1, H3a, Sh3bp3, sirm
MMRRC Submission 039787-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1755 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 120337301-120394324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120365656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 250 (N250K)
Ref Sequence ENSEMBL: ENSMUSP00000128995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055241] [ENSMUST00000135625] [ENSMUST00000171215]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000055241
AA Change: N273K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000055602
Gene: ENSMUSG00000027288
AA Change: N273K

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 probably benign
Transcript: ENSMUST00000135625
SMART Domains Protein: ENSMUSP00000126939
Gene: ENSMUSG00000027288

DomainStartEndE-ValueType
ZnF_C2H2 5 29 1.51e0 SMART
low complexity region 53 67 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147353
Predicted Effect probably benign
Transcript: ENSMUST00000163384
Predicted Effect probably benign
Transcript: ENSMUST00000167241
SMART Domains Protein: ENSMUSP00000127803
Gene: ENSMUSG00000027288

DomainStartEndE-ValueType
ZnF_C2H2 4 28 1.51e0 SMART
low complexity region 74 85 N/A INTRINSIC
low complexity region 132 145 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171215
AA Change: N250K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128995
Gene: ENSMUSG00000027288
AA Change: N250K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181963
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik G A 8: 88,315,585 (GRCm39) R225H possibly damaging Het
9330159F19Rik A T 10: 29,098,290 (GRCm39) H199L possibly damaging Het
Acaca AC A 11: 84,167,390 (GRCm39) probably null Het
Adam23 G A 1: 63,582,329 (GRCm39) V326M probably damaging Het
Aldh1a2 T A 9: 71,169,023 (GRCm39) Y168* probably null Het
Ano6 A G 15: 95,870,451 (GRCm39) K869E possibly damaging Het
Aplp2 G A 9: 31,088,400 (GRCm39) A106V probably damaging Het
Arhgdib T A 6: 136,906,612 (GRCm39) K30* probably null Het
Arl11 A G 14: 61,548,393 (GRCm39) T68A probably benign Het
Atg7 A G 6: 114,650,638 (GRCm39) T83A possibly damaging Het
Card9 T C 2: 26,249,546 (GRCm39) E5G probably damaging Het
Cars1 A G 7: 143,123,194 (GRCm39) V474A probably damaging Het
Cd300ld2 A G 11: 114,904,601 (GRCm39) F89L probably benign Het
Celf2 T A 2: 6,889,769 (GRCm39) M1L probably benign Het
Cnot1 T C 8: 96,451,205 (GRCm39) D2174G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cox6b2 A G 7: 4,754,937 (GRCm39) F74S probably damaging Het
Cyp11b1 T A 15: 74,710,383 (GRCm39) Q306L probably benign Het
Ddx3y A G Y: 1,279,543 (GRCm39) I107T probably benign Het
Dnah5 A T 15: 28,326,782 (GRCm39) Y1997F probably damaging Het
Dync2i1 A G 12: 116,189,649 (GRCm39) L620P probably damaging Het
Epha4 A T 1: 77,364,460 (GRCm39) I683N probably damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Gmip A G 8: 70,266,774 (GRCm39) I296M probably damaging Het
Gpr37l1 A G 1: 135,094,639 (GRCm39) S202P probably damaging Het
Ifi208 C A 1: 173,505,476 (GRCm39) D75E possibly damaging Het
Il24 T C 1: 130,811,680 (GRCm39) N132S possibly damaging Het
Katnal2 A G 18: 77,099,763 (GRCm39) C124R probably benign Het
Kcnq3 A T 15: 65,867,270 (GRCm39) L791Q probably damaging Het
Kcns3 T A 12: 11,141,445 (GRCm39) D418V probably benign Het
Kif13a A G 13: 46,906,089 (GRCm39) V618A possibly damaging Het
Kif13a A T 13: 46,927,154 (GRCm39) V1179E possibly damaging Het
Lpp A G 16: 24,663,874 (GRCm39) I259V probably benign Het
Mapkapk2 A G 1: 130,986,087 (GRCm39) probably null Het
Marchf7 T C 2: 60,065,265 (GRCm39) S514P probably benign Het
Nr4a2 T A 2: 56,999,104 (GRCm39) L381F probably damaging Het
Nt5dc3 A G 10: 86,660,115 (GRCm39) D328G probably damaging Het
Obox6 T C 7: 15,568,445 (GRCm39) K144E probably damaging Het
Oga A T 19: 45,746,845 (GRCm39) M735K possibly damaging Het
Olfml2b G A 1: 170,509,346 (GRCm39) V565M probably damaging Het
Or1d2 T C 11: 74,255,819 (GRCm39) V108A probably damaging Het
Orc3 G A 4: 34,575,114 (GRCm39) A590V possibly damaging Het
Picalm T C 7: 89,809,757 (GRCm39) S78P possibly damaging Het
Por T A 5: 135,758,339 (GRCm39) Y105* probably null Het
Ppara A G 15: 85,682,180 (GRCm39) K292R probably benign Het
Pramel27 T C 4: 143,577,380 (GRCm39) F3S probably damaging Het
Prss59 T G 6: 40,903,096 (GRCm39) Y92S probably damaging Het
Ralgds T A 2: 28,440,558 (GRCm39) I844N probably damaging Het
Rttn T C 18: 89,027,441 (GRCm39) Y519H probably damaging Het
Scn9a A G 2: 66,332,060 (GRCm39) V1261A probably benign Het
Slc2a2 T A 3: 28,767,811 (GRCm39) probably null Het
Slc5a7 T C 17: 54,600,006 (GRCm39) M136V probably benign Het
Smc4 C A 3: 68,941,441 (GRCm39) A1232E probably damaging Het
Smg1 A T 7: 117,802,287 (GRCm39) C270* probably null Het
Sparcl1 C T 5: 104,240,690 (GRCm39) E245K probably benign Het
Taf2 T C 15: 54,879,850 (GRCm39) H1162R probably damaging Het
Tlr3 T C 8: 45,851,010 (GRCm39) D105G probably benign Het
Tmem62 T C 2: 120,814,958 (GRCm39) probably null Het
Triobp G A 15: 78,850,679 (GRCm39) A278T probably benign Het
Ufd1 T G 16: 18,642,003 (GRCm39) C151W probably damaging Het
Upk1b T G 16: 38,600,402 (GRCm39) M193L probably benign Het
Usp15 A G 10: 122,968,949 (GRCm39) M334T probably damaging Het
Utp20 A G 10: 88,645,631 (GRCm39) S541P probably benign Het
Vmn1r61 A T 7: 5,614,302 (GRCm39) L4* probably null Het
Vmn2r96 G A 17: 18,802,915 (GRCm39) G83D possibly damaging Het
Zbtb8a T C 4: 129,248,110 (GRCm39) D387G possibly damaging Het
Zfp292 A G 4: 34,811,043 (GRCm39) V667A probably benign 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
R1763:Zfp106 UTSW 2 120,350,909 (GRCm39) missense probably benign 0.03
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'- GCCAATGACTTCTTTCAGGGCTGAC -3'
(R):5'- GCTGGCATTCAAACAATGGGATGG -3'

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