Incidental Mutation 'IGL02216:Zfp846'
ID284906
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp846
Ensembl Gene ENSMUSG00000058192
Gene Namezinc finger protein 846
Synonyms
Accession Numbers
Stock #IGL02216
Quality Score
Status
Chromosome9
Chromosomal Location20581325-20595194 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20588609 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 45 (E45G)
Ref Sequence ENSEMBL: ENSMUSP00000051593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060063] [ENSMUST00000115557] [ENSMUST00000140668]
Predicted Effect possibly damaging
Transcript: ENSMUST00000060063
AA Change: E45G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000051593
Gene: ENSMUSG00000058192
AA Change: E45G

DomainStartEndE-ValueType
KRAB 14 74 5.69e-28 SMART
ZnF_C2H2 113 137 1.02e1 SMART
ZnF_C2H2 162 184 8.6e-5 SMART
ZnF_C2H2 190 212 1.3e-4 SMART
ZnF_C2H2 218 240 1.12e-3 SMART
ZnF_C2H2 246 268 5.21e-4 SMART
ZnF_C2H2 274 297 9.58e-3 SMART
ZnF_C2H2 303 325 7.49e-5 SMART
ZnF_C2H2 331 354 2.95e-3 SMART
ZnF_C2H2 360 382 4.47e-3 SMART
ZnF_C2H2 388 410 4.11e-2 SMART
ZnF_C2H2 416 438 1.03e-2 SMART
ZnF_C2H2 444 466 5.21e-4 SMART
ZnF_C2H2 472 494 5.99e-4 SMART
ZnF_C2H2 500 522 1.72e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115557
AA Change: E45G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111219
Gene: ENSMUSG00000058192
AA Change: E45G

DomainStartEndE-ValueType
KRAB 14 74 5.69e-28 SMART
ZnF_C2H2 113 137 1.02e1 SMART
ZnF_C2H2 162 184 8.6e-5 SMART
ZnF_C2H2 190 212 1.3e-4 SMART
ZnF_C2H2 218 240 1.12e-3 SMART
ZnF_C2H2 246 268 5.21e-4 SMART
ZnF_C2H2 274 297 9.58e-3 SMART
ZnF_C2H2 303 325 7.49e-5 SMART
ZnF_C2H2 331 354 2.95e-3 SMART
ZnF_C2H2 360 382 4.47e-3 SMART
ZnF_C2H2 388 410 4.11e-2 SMART
ZnF_C2H2 416 438 1.03e-2 SMART
ZnF_C2H2 444 466 5.21e-4 SMART
ZnF_C2H2 472 494 5.99e-4 SMART
ZnF_C2H2 500 522 1.72e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000140668
AA Change: E45G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115945
Gene: ENSMUSG00000058192
AA Change: E45G

DomainStartEndE-ValueType
KRAB 14 67 1.99e-18 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik A T 18: 38,252,860 I102F probably damaging Het
4930544D05Rik T C 11: 70,616,179 F48L possibly damaging Het
5830473C10Rik T C 5: 90,579,579 noncoding transcript Het
Adamts12 A G 15: 11,241,485 N381S possibly damaging Het
Akp3 A T 1: 87,127,650 Q473L probably damaging Het
Ap5s1 T A 2: 131,212,967 V203E unknown Het
Atp10b T A 11: 43,259,789 L1438Q probably damaging Het
B3galt4 G A 17: 33,950,565 P233L probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cc2d1a C A 8: 84,139,313 E438* probably null Het
Cd209a G T 8: 3,745,576 T165N probably damaging Het
Chid1 T C 7: 141,496,593 noncoding transcript Het
Cln3 A T 7: 126,575,342 noncoding transcript Het
Cped1 A T 6: 22,059,945 R203S probably damaging Het
Dnttip2 G T 3: 122,276,261 W375L probably benign Het
Dync1h1 T C 12: 110,663,002 F4280S probably damaging Het
Ephb4 A G 5: 137,372,070 D844G possibly damaging Het
Fhl2 T A 1: 43,131,719 E145V probably null Het
Gne T C 4: 44,044,761 K458E probably benign Het
Grid2 G T 6: 64,345,666 R550L probably damaging Het
Klhl1 T A 14: 96,123,222 T731S probably benign Het
Kng1 T A 16: 23,058,533 D30E probably damaging Het
Kyat1 A G 2: 30,187,252 V158A probably benign Het
Mcm8 G T 2: 132,839,529 V670F probably damaging Het
Mdn1 C T 4: 32,739,092 H3638Y probably benign Het
Neb T G 2: 52,226,490 T4158P probably benign Het
Neo1 T C 9: 58,917,053 I697M possibly damaging Het
Nfkb1 A T 3: 135,594,963 V614D probably damaging Het
Olfr860 G A 9: 19,846,565 S18L probably damaging Het
Otog T C 7: 46,301,468 S2555P probably damaging Het
Pkd1l1 T A 11: 8,834,897 R1962S probably damaging Het
Plxnb1 A G 9: 109,100,850 Y258C probably damaging Het
Pramef8 T A 4: 143,417,728 W215R probably null Het
Prl3a1 A G 13: 27,270,144 D35G probably benign Het
Rag1 A T 2: 101,643,381 V472D possibly damaging Het
Rbpj-ps3 G A 6: 46,529,707 noncoding transcript Het
Rnf112 C T 11: 61,449,978 V520M probably damaging Het
Rps18 A G 17: 33,952,041 noncoding transcript Het
Rptn T C 3: 93,395,773 S138P possibly damaging Het
Sbpl A C 17: 23,953,716 N76K probably benign Het
Sh3bp1 A T 15: 78,905,164 M305L probably benign Het
Slc22a17 T C 14: 54,907,976 T239A possibly damaging Het
Smc3 C T 19: 53,621,844 R221C probably damaging Het
Snai1 A G 2: 167,538,848 E87G probably benign Het
Snx22 C A 9: 66,069,188 A49S probably benign Het
Tas2r143 A T 6: 42,400,334 R33* probably null Het
Try4 A G 6: 41,305,031 I184V probably benign Het
Ttn T A 2: 76,754,552 K22101* probably null Het
Ttn A G 2: 76,791,725 V15491A probably benign Het
Vmn1r170 A G 7: 23,606,490 T106A probably damaging Het
Vmn2r59 A T 7: 42,012,393 V666E probably damaging Het
Vsx1 T C 2: 150,684,575 N221S possibly damaging Het
Zcchc6 T C 13: 59,800,423 T695A probably benign Het
Other mutations in Zfp846
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02440:Zfp846 APN 9 20588500 unclassified 0.00
R0077:Zfp846 UTSW 9 20594007 missense probably benign 0.00
R0528:Zfp846 UTSW 9 20587928 splice site probably benign
R0675:Zfp846 UTSW 9 20593557 missense probably benign
R1116:Zfp846 UTSW 9 20593263 missense possibly damaging 0.96
R1439:Zfp846 UTSW 9 20594097 missense possibly damaging 0.83
R3803:Zfp846 UTSW 9 20594439 missense probably benign
R4586:Zfp846 UTSW 9 20593513 missense probably damaging 0.96
R4872:Zfp846 UTSW 9 20590815 missense probably benign
R6221:Zfp846 UTSW 9 20593295 missense possibly damaging 0.53
Posted OnApr 16, 2015