Incidental Mutation 'R2070:Zfp106'
ID 227014
Institutional Source Beutler Lab
Gene Symbol Zfp106
Ensembl Gene ENSMUSG00000027288
Gene Name zinc finger protein 106
Synonyms Cd-1, H3a, Sh3bp3, sirm
MMRRC Submission 040075-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2070 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 120337301-120394324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120354010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 1490 (H1490R)
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: H1513R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000055602
Gene: ENSMUSG00000027288
AA Change: H1513R

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 noncoding transcript
Transcript: ENSMUST00000141874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149210
Predicted Effect probably benign
Transcript: ENSMUST00000152347
AA Change: H219R

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000132902
Gene: ENSMUSG00000027288
AA Change: H219R

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: ENSMUST00000163384
Predicted Effect probably benign
Transcript: ENSMUST00000171215
AA Change: H1490R

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128995
Gene: ENSMUSG00000027288
AA Change: H1490R

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: 99.2%
  • 3x: 98.6%
  • 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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik A G 11: 58,767,595 (GRCm39) K31E probably damaging Het
Abcc10 G C 17: 46,614,491 (GRCm39) N1477K probably benign Het
Ablim2 G A 5: 35,955,857 (GRCm39) C24Y probably damaging Het
Ankle1 T C 8: 71,861,988 (GRCm39) F497S probably damaging Het
Armh3 G T 19: 45,879,724 (GRCm39) P543Q probably damaging Het
Ash1l C G 3: 88,873,510 (GRCm39) P98A probably damaging Het
Atad5 A T 11: 79,988,878 (GRCm39) probably null Het
B3gnt4 A T 5: 123,649,433 (GRCm39) H266L probably benign Het
Bmi1 A G 2: 18,688,851 (GRCm39) I207V probably benign Het
Bnip3l A G 14: 67,226,671 (GRCm39) M174T probably damaging Het
Bora T C 14: 99,299,714 (GRCm39) S229P probably damaging Het
Ccdc121 T C 5: 31,644,727 (GRCm39) V160A possibly damaging Het
Ccdc27 T A 4: 154,126,270 (GRCm39) N73I unknown Het
Cdc42bpg T A 19: 6,370,518 (GRCm39) C1204S probably damaging Het
Cdsn A T 17: 35,865,591 (GRCm39) D40V probably damaging Het
Cilp T A 9: 65,186,377 (GRCm39) V824D probably damaging Het
Cmtr1 A G 17: 29,913,757 (GRCm39) probably null Het
Cntnap1 A G 11: 101,073,805 (GRCm39) Y652C probably damaging Het
Col12a1 T C 9: 79,554,978 (GRCm39) I2033M probably benign Het
Cwh43 T C 5: 73,578,860 (GRCm39) L289P probably damaging Het
Ddhd1 T C 14: 45,848,081 (GRCm39) D529G probably damaging Het
Defb28 T A 2: 152,362,064 (GRCm39) S75T probably benign Het
Dennd2a A T 6: 39,442,053 (GRCm39) V939D probably damaging Het
Dlg5 T C 14: 24,186,703 (GRCm39) R1866G probably damaging Het
Dsc1 C T 18: 20,221,353 (GRCm39) probably null Het
Ecscr T G 18: 35,848,490 (GRCm39) N184T probably damaging Het
Eif4ebp1 G T 8: 27,763,372 (GRCm39) R55L probably damaging Het
Eml1 G T 12: 108,479,258 (GRCm39) V344L probably damaging Het
Exoc2 G T 13: 30,999,353 (GRCm39) N901K probably benign Het
Fam161b T A 12: 84,403,202 (GRCm39) I143F probably benign Het
Fam180a A G 6: 35,302,846 (GRCm39) S2P probably benign Het
Fat3 T A 9: 15,910,666 (GRCm39) I1779F probably benign Het
Fat4 A G 3: 39,064,804 (GRCm39) K4920R probably benign Het
Fsip2 T A 2: 82,806,699 (GRCm39) V1006E probably damaging Het
Glcci1 A G 6: 8,558,566 (GRCm39) S30G probably damaging Het
Gm5414 A T 15: 101,536,495 (GRCm39) S43R possibly damaging Het
Hao1 T C 2: 134,372,535 (GRCm39) T158A probably damaging Het
Hic1 T C 11: 75,059,885 (GRCm39) H154R possibly damaging Het
Hmgxb3 T C 18: 61,304,431 (GRCm39) Y53C probably damaging Het
Ipmk A T 10: 71,208,579 (GRCm39) K122* probably null Het
Jakmip2 T C 18: 43,696,395 (GRCm39) E518G probably benign Het
Kmt2e A G 5: 23,706,993 (GRCm39) T1519A probably benign Het
Lfng T C 5: 140,598,350 (GRCm39) I224T possibly damaging Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Map4k5 C T 12: 69,863,111 (GRCm39) V629I probably damaging Het
Med12l A G 3: 59,152,326 (GRCm39) D1037G probably damaging Het
Morc1 C T 16: 48,412,974 (GRCm39) T705I probably benign Het
Mptx2 A T 1: 173,102,145 (GRCm39) Y181* probably null Het
Mrpl24 T C 3: 87,830,374 (GRCm39) probably null Het
Myo5a A G 9: 75,089,266 (GRCm39) E1132G probably benign Het
Nedd4l T G 18: 65,345,891 (GRCm39) F814L probably damaging Het
Nmral1 T A 16: 4,534,211 (GRCm39) I77F probably damaging Het
Oit3 T G 10: 59,266,835 (GRCm39) I224L probably benign Het
Oxsm A G 14: 16,241,983 (GRCm38) L262P probably benign Het
Pacs2 C T 12: 113,024,731 (GRCm39) T407I probably damaging Het
Pard6g T C 18: 80,160,940 (GRCm39) I351T probably benign Het
Pdcl2 A T 5: 76,472,838 (GRCm39) probably null Het
Pdzph1 T C 17: 59,281,092 (GRCm39) R397G probably benign Het
Phip T A 9: 82,757,352 (GRCm39) I1607L probably benign Het
Plekhd1 C A 12: 80,739,681 (GRCm39) S10* probably null Het
Pramel24 T G 4: 143,453,472 (GRCm39) Y193* probably null Het
Prdm1 C T 10: 44,317,408 (GRCm39) D505N possibly damaging Het
Psmd13 T C 7: 140,477,561 (GRCm39) V320A probably damaging Het
Rbak A G 5: 143,162,339 (GRCm39) L8P probably damaging Het
Rere C A 4: 150,699,047 (GRCm39) probably benign Het
Rint1 T C 5: 24,015,927 (GRCm39) S456P possibly damaging Het
Scn3a T C 2: 65,351,210 (GRCm39) Q446R possibly damaging Het
Slitrk5 A G 14: 111,917,621 (GRCm39) Y415C probably damaging Het
Snrnp200 A G 2: 127,054,323 (GRCm39) E210G possibly damaging Het
Snrnp200 A G 2: 127,079,803 (GRCm39) T1891A probably benign Het
Sohlh2 A G 3: 55,115,043 (GRCm39) I343V probably benign Het
Spin1 T C 13: 51,298,573 (GRCm39) probably null Het
St14 T A 9: 31,002,669 (GRCm39) I745F probably damaging Het
Sv2a G A 3: 96,101,191 (GRCm39) A730T possibly damaging Het
Tars2 C A 3: 95,654,950 (GRCm39) G113C probably damaging Het
Tlcd3b T C 7: 126,419,012 (GRCm39) L4P probably benign Het
Trp53 A G 11: 69,480,458 (GRCm39) D278G probably damaging Het
Ubxn7 T A 16: 32,191,287 (GRCm39) C160S possibly damaging Het
Uty T C Y: 1,169,193 (GRCm39) E414G probably benign Het
Wrap73 T A 4: 154,233,200 (GRCm39) S125T possibly damaging Het
Wwc2 T C 8: 48,321,356 (GRCm39) D586G unknown Het
Zswim5 T C 4: 116,837,109 (GRCm39) V731A probably benign Het
Zyg11b G C 4: 108,108,016 (GRCm39) N463K 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
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
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'- TGACAGGAGTGTGCAACGTG -3'
(R):5'- AAATCTTGGCTCTTGGAGTCG -3'

Sequencing Primer
(F):5'- CAACGTGCAAAGCCCAGGG -3'
(R):5'- GCTCTTGGAGTCGGCTTG -3'
Posted On 2014-09-17