Incidental Mutation 'IGL01667:Zfp692'
ID103327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp692
Ensembl Gene ENSMUSG00000037243
Gene Namezinc finger protein 692
SynonymsZfp692-ps
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01667
Quality Score
Status
Chromosome11
Chromosomal Location58307069-58314627 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58311553 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 378 (H378R)
Ref Sequence ENSEMBL: ENSMUSP00000131896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049353] [ENSMUST00000057836] [ENSMUST00000064786] [ENSMUST00000108829] [ENSMUST00000153510]
Predicted Effect probably damaging
Transcript: ENSMUST00000049353
AA Change: H378R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131896
Gene: ENSMUSG00000037243
AA Change: H378R

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
low complexity region 94 110 N/A INTRINSIC
low complexity region 159 175 N/A INTRINSIC
low complexity region 193 204 N/A INTRINSIC
low complexity region 215 232 N/A INTRINSIC
ZnF_C2H2 327 352 4.11e-2 SMART
ZnF_C2H2 358 382 2.05e-2 SMART
ZnF_C2H2 388 410 1.69e-3 SMART
ZnF_C2H2 416 438 1.69e-3 SMART
ZnF_C2H2 447 470 6.23e-2 SMART
low complexity region 502 520 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000057836
SMART Domains Protein: ENSMUSP00000060088
Gene: ENSMUSG00000049755

DomainStartEndE-ValueType
ZnF_C2H2 15 37 4.17e-3 SMART
ZnF_C2H2 43 65 8.75e0 SMART
ZnF_C2H2 71 93 1.18e-2 SMART
ZnF_C2H2 100 123 1.76e-1 SMART
ZnF_C2H2 129 151 1.59e1 SMART
ZnF_C2H2 167 189 4.47e-3 SMART
ZnF_C2H2 202 224 9.58e-3 SMART
ZnF_C2H2 230 252 7.37e-4 SMART
ZnF_C2H2 258 280 3.16e-3 SMART
ZnF_C2H2 286 308 1.45e-2 SMART
ZnF_C2H2 314 336 4.01e-5 SMART
ZnF_C2H2 342 364 5.5e-3 SMART
ZnF_C2H2 370 392 1.12e-3 SMART
ZnF_C2H2 398 420 6.67e-2 SMART
low complexity region 421 441 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064786
SMART Domains Protein: ENSMUSP00000070567
Gene: ENSMUSG00000049755

DomainStartEndE-ValueType
ZnF_C2H2 15 37 4.17e-3 SMART
ZnF_C2H2 43 65 8.75e0 SMART
ZnF_C2H2 71 93 1.18e-2 SMART
ZnF_C2H2 100 123 1.76e-1 SMART
ZnF_C2H2 129 151 1.59e1 SMART
ZnF_C2H2 167 189 4.47e-3 SMART
ZnF_C2H2 202 224 9.58e-3 SMART
ZnF_C2H2 230 252 7.37e-4 SMART
ZnF_C2H2 258 280 3.16e-3 SMART
ZnF_C2H2 286 308 1.45e-2 SMART
ZnF_C2H2 314 336 4.01e-5 SMART
ZnF_C2H2 342 364 5.5e-3 SMART
ZnF_C2H2 370 392 1.12e-3 SMART
ZnF_C2H2 398 420 6.67e-2 SMART
low complexity region 421 441 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108829
SMART Domains Protein: ENSMUSP00000104457
Gene: ENSMUSG00000049755

DomainStartEndE-ValueType
ZnF_C2H2 15 37 4.17e-3 SMART
ZnF_C2H2 43 65 8.75e0 SMART
ZnF_C2H2 71 93 1.18e-2 SMART
ZnF_C2H2 100 123 1.76e-1 SMART
ZnF_C2H2 129 151 1.59e1 SMART
ZnF_C2H2 167 189 4.47e-3 SMART
ZnF_C2H2 202 224 9.58e-3 SMART
ZnF_C2H2 230 252 7.37e-4 SMART
ZnF_C2H2 258 280 3.16e-3 SMART
ZnF_C2H2 286 308 1.45e-2 SMART
ZnF_C2H2 314 336 4.01e-5 SMART
ZnF_C2H2 342 364 5.5e-3 SMART
ZnF_C2H2 370 392 1.12e-3 SMART
ZnF_C2H2 398 420 6.67e-2 SMART
low complexity region 421 441 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000153510
AA Change: H378R

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126674
Gene: ENSMUSG00000037243
AA Change: H378R

DomainStartEndE-ValueType
low complexity region 10 23 N/A INTRINSIC
low complexity region 94 110 N/A INTRINSIC
low complexity region 159 175 N/A INTRINSIC
low complexity region 193 204 N/A INTRINSIC
low complexity region 215 232 N/A INTRINSIC
ZnF_C2H2 327 352 4.11e-2 SMART
ZnF_C2H2 358 382 2.05e-2 SMART
ZnF_C2H2 388 410 1.69e-3 SMART
ZnF_C2H2 416 438 1.69e-3 SMART
ZnF_C2H2 447 470 6.23e-2 SMART
low complexity region 502 520 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,570,019 T57A probably damaging Het
Akna G T 4: 63,379,159 T886N probably benign Het
Aqp9 A G 9: 71,138,213 V38A probably benign Het
Awat2 C T X: 100,404,254 G124D probably damaging Het
Camsap1 A G 2: 25,945,281 probably benign Het
Catsperg2 T C 7: 29,710,133 Y545C probably damaging Het
Cldn23 A G 8: 35,825,920 F138S possibly damaging Het
Clec4a3 A C 6: 122,952,860 probably benign Het
Dlgap3 C A 4: 127,233,897 T786K probably benign Het
Dnah2 A C 11: 69,544,395 S50A probably benign Het
Dnah2 A T 11: 69,520,941 I285N probably damaging Het
Dnah7a A G 1: 53,547,292 Y1467H probably damaging Het
Fgf22 C T 10: 79,756,754 P115L probably damaging Het
Fzd2 G T 11: 102,605,782 V351L possibly damaging Het
Gapdhs T A 7: 30,736,637 E174V possibly damaging Het
Gjc2 A C 11: 59,177,518 I46S probably damaging Het
Gm5581 T C 6: 131,167,772 noncoding transcript Het
Krt2 C A 15: 101,816,330 V282L possibly damaging Het
Myh15 G A 16: 49,195,579 V1873M probably benign Het
Myo1b T C 1: 51,760,377 T931A probably damaging Het
Myo6 A T 9: 80,289,893 K965N unknown Het
Olfr1441 T C 19: 12,422,756 V149A probably benign Het
Pcnx3 T C 19: 5,686,630 R160G probably benign Het
Slc22a16 T C 10: 40,585,018 I272T probably damaging Het
Slc35b4 A G 6: 34,167,675 Y82H possibly damaging Het
Spdya T C 17: 71,556,259 M1T probably null Het
St6gal1 A G 16: 23,321,424 N115S probably benign Het
Tbc1d12 A T 19: 38,914,300 probably benign Het
Tfrc A G 16: 32,624,443 probably benign Het
Trip11 A C 12: 101,878,862 F1539C probably damaging Het
Ttn A T 2: 76,781,078 I15624N possibly damaging Het
Vmn1r169 A T 7: 23,577,800 M206L probably benign Het
Zfp362 A G 4: 128,787,109 L141P probably damaging Het
Zfp799 T C 17: 32,821,820 Q52R possibly damaging Het
Other mutations in Zfp692
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Zfp692 APN 11 58314029 missense possibly damaging 0.94
IGL00978:Zfp692 APN 11 58309998 missense possibly damaging 0.92
IGL02209:Zfp692 APN 11 58313998 nonsense probably null
IGL02873:Zfp692 APN 11 58308939 missense probably damaging 1.00
R0255:Zfp692 UTSW 11 58310403 splice site probably benign
R0267:Zfp692 UTSW 11 58314314 missense possibly damaging 0.64
R0506:Zfp692 UTSW 11 58309055 nonsense probably null
R0554:Zfp692 UTSW 11 58314227 missense probably damaging 1.00
R0628:Zfp692 UTSW 11 58309623 missense probably damaging 1.00
R0712:Zfp692 UTSW 11 58314314 missense probably benign 0.00
R1112:Zfp692 UTSW 11 58311562 missense probably damaging 1.00
R1493:Zfp692 UTSW 11 58314040 missense probably damaging 1.00
R1768:Zfp692 UTSW 11 58310176 splice site probably benign
R1853:Zfp692 UTSW 11 58309979 missense possibly damaging 0.69
R3551:Zfp692 UTSW 11 58309428 missense possibly damaging 0.52
R3552:Zfp692 UTSW 11 58309428 missense possibly damaging 0.52
R4281:Zfp692 UTSW 11 58314265 missense probably damaging 1.00
R4784:Zfp692 UTSW 11 58310171 missense probably null 0.12
R5150:Zfp692 UTSW 11 58307587 start codon destroyed probably null 0.77
R7035:Zfp692 UTSW 11 58309442 critical splice donor site probably null
R7343:Zfp692 UTSW 11 58311505 missense probably damaging 1.00
R7896:Zfp692 UTSW 11 58314236 missense probably damaging 1.00
R8071:Zfp692 UTSW 11 58307734 missense probably damaging 0.96
R8163:Zfp692 UTSW 11 58310373 splice site probably null
Z1186:Zfp692 UTSW 11 58309033 missense probably benign 0.02
Z1186:Zfp692 UTSW 11 58310018 missense probably benign
Z1187:Zfp692 UTSW 11 58309033 missense probably benign 0.02
Z1187:Zfp692 UTSW 11 58310018 missense probably benign
Z1188:Zfp692 UTSW 11 58309033 missense probably benign 0.02
Z1188:Zfp692 UTSW 11 58310018 missense probably benign
Z1189:Zfp692 UTSW 11 58309033 missense probably benign 0.02
Z1189:Zfp692 UTSW 11 58310018 missense probably benign
Z1190:Zfp692 UTSW 11 58309033 missense probably benign 0.02
Z1190:Zfp692 UTSW 11 58310018 missense probably benign
Z1191:Zfp692 UTSW 11 58309033 missense probably benign 0.02
Z1191:Zfp692 UTSW 11 58310018 missense probably benign
Z1192:Zfp692 UTSW 11 58309033 missense probably benign 0.02
Z1192:Zfp692 UTSW 11 58310018 missense probably benign
Posted On2014-01-21