Incidental Mutation 'IGL01550:Zfp758'
ID90582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp758
Ensembl Gene ENSMUSG00000044501
Gene Namezinc finger protein 758
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL01550
Quality Score
Status
Chromosome17
Chromosomal Location22361453-22377281 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 22375040 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 137 (L137S)
Ref Sequence ENSEMBL: ENSMUSP00000113532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072477] [ENSMUST00000088765] [ENSMUST00000121315] [ENSMUST00000149699]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072477
AA Change: L137S

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000072298
Gene: ENSMUSG00000044501
AA Change: L137S

DomainStartEndE-ValueType
KRAB 13 73 1.55e-20 SMART
ZnF_C2H2 177 199 6.92e0 SMART
ZnF_C2H2 205 227 6.32e-3 SMART
ZnF_C2H2 233 255 1.2e-3 SMART
ZnF_C2H2 261 283 9.08e-4 SMART
ZnF_C2H2 289 311 6.08e-5 SMART
ZnF_C2H2 317 339 1.03e-2 SMART
ZnF_C2H2 345 367 2.24e-3 SMART
ZnF_C2H2 373 395 3.21e-4 SMART
ZnF_C2H2 401 423 6.32e-3 SMART
ZnF_C2H2 429 451 2.24e-3 SMART
ZnF_C2H2 457 479 5.14e-3 SMART
ZnF_C2H2 485 507 1.04e-3 SMART
ZnF_C2H2 513 535 4.4e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000088765
AA Change: L137S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000086143
Gene: ENSMUSG00000044501
AA Change: L137S

DomainStartEndE-ValueType
KRAB 13 73 1.55e-20 SMART
ZnF_C2H2 177 199 6.92e0 SMART
ZnF_C2H2 205 227 6.32e-3 SMART
ZnF_C2H2 233 255 1.2e-3 SMART
ZnF_C2H2 261 283 9.08e-4 SMART
ZnF_C2H2 289 311 6.08e-5 SMART
ZnF_C2H2 317 339 1.03e-2 SMART
ZnF_C2H2 345 367 2.24e-3 SMART
ZnF_C2H2 373 395 3.21e-4 SMART
ZnF_C2H2 401 423 6.32e-3 SMART
ZnF_C2H2 429 451 2.24e-3 SMART
ZnF_C2H2 457 479 5.14e-3 SMART
ZnF_C2H2 485 507 1.04e-3 SMART
ZnF_C2H2 513 535 4.4e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121315
AA Change: L137S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113532
Gene: ENSMUSG00000044501
AA Change: L137S

DomainStartEndE-ValueType
KRAB 13 73 1.55e-20 SMART
ZnF_C2H2 177 199 6.92e0 SMART
ZnF_C2H2 205 227 6.32e-3 SMART
ZnF_C2H2 233 255 1.2e-3 SMART
ZnF_C2H2 261 283 9.08e-4 SMART
ZnF_C2H2 289 311 6.08e-5 SMART
ZnF_C2H2 317 339 1.03e-2 SMART
ZnF_C2H2 345 367 2.24e-3 SMART
ZnF_C2H2 373 395 3.21e-4 SMART
ZnF_C2H2 401 423 6.32e-3 SMART
ZnF_C2H2 429 451 2.24e-3 SMART
ZnF_C2H2 457 479 5.14e-3 SMART
ZnF_C2H2 485 507 1.04e-3 SMART
ZnF_C2H2 513 535 4.4e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000149699
AA Change: L169S

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121288
Gene: ENSMUSG00000044501
AA Change: L169S

DomainStartEndE-ValueType
KRAB 45 105 1.55e-20 SMART
ZnF_C2H2 209 231 6.92e0 SMART
ZnF_C2H2 237 259 6.32e-3 SMART
ZnF_C2H2 265 287 1.2e-3 SMART
ZnF_C2H2 293 315 9.08e-4 SMART
ZnF_C2H2 321 343 6.08e-5 SMART
ZnF_C2H2 349 371 1.03e-2 SMART
ZnF_C2H2 377 399 2.24e-3 SMART
ZnF_C2H2 405 427 3.21e-4 SMART
ZnF_C2H2 433 455 6.32e-3 SMART
ZnF_C2H2 461 483 2.24e-3 SMART
ZnF_C2H2 489 511 5.14e-3 SMART
ZnF_C2H2 517 539 1.04e-3 SMART
ZnF_C2H2 545 567 4.4e-2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik T G 11: 3,937,974 R137S unknown Het
Epha8 G T 4: 136,931,740 Q868K possibly damaging Het
Erc1 T A 6: 119,783,394 M386L probably damaging Het
Gfpt2 T A 11: 49,824,323 probably null Het
Gm14124 T A 2: 150,266,443 probably benign Het
Gpr142 T A 11: 114,804,326 L39Q probably damaging Het
Hmcn1 A T 1: 150,598,397 W4765R probably damaging Het
Hmcn2 A T 2: 31,424,252 E3603V possibly damaging Het
Hsp90b1 C T 10: 86,704,370 D26N probably benign Het
Kmt2c T C 5: 25,281,276 T4760A probably damaging Het
Lmo7 C A 14: 101,926,140 probably benign Het
Mup4 A T 4: 59,960,120 I48K probably damaging Het
Mylk3 T A 8: 85,365,089 D29V probably damaging Het
Myo1b A G 1: 51,784,531 F405S probably damaging Het
Nbea T C 3: 55,805,248 D2136G possibly damaging Het
Olfr243 T G 7: 103,716,997 H134Q probably damaging Het
Olfr364-ps1 A T 2: 37,146,974 Y254F probably damaging Het
Olfr869 A T 9: 20,137,454 T113S probably damaging Het
Olfr996 T A 2: 85,579,531 C97* probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rpp40 T C 13: 35,906,200 probably null Het
Samd7 T A 3: 30,765,250 S383T probably damaging Het
Tbc1d10c T C 19: 4,184,824 T413A probably damaging Het
Tlr12 A G 4: 128,615,742 L905P probably damaging Het
Tnr A G 1: 159,874,258 K643R probably benign Het
Vmn2r124 T C 17: 18,063,355 probably null Het
Vwf A T 6: 125,679,289 I2606F probably benign Het
Wbp4 T C 14: 79,466,334 T258A probably benign Het
Other mutations in Zfp758
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1034:Zfp758 UTSW 17 22375759 nonsense probably null
R1187:Zfp758 UTSW 17 22375190 missense probably benign 0.23
R1733:Zfp758 UTSW 17 22375849 missense probably damaging 1.00
R1847:Zfp758 UTSW 17 22375223 missense probably benign 0.19
R1927:Zfp758 UTSW 17 22375842 missense probably damaging 0.99
R1934:Zfp758 UTSW 17 22373652 missense probably damaging 0.99
R2113:Zfp758 UTSW 17 22361645 missense probably benign 0.10
R2132:Zfp758 UTSW 17 22375970 missense probably damaging 1.00
R5134:Zfp758 UTSW 17 22375405 missense probably damaging 1.00
R5274:Zfp758 UTSW 17 22375855 missense probably benign 0.31
R5303:Zfp758 UTSW 17 22374861 missense probably benign 0.05
R5394:Zfp758 UTSW 17 22372068 missense probably damaging 0.99
R5813:Zfp758 UTSW 17 22375815 missense probably damaging 1.00
R6017:Zfp758 UTSW 17 22373731 missense probably damaging 1.00
R6411:Zfp758 UTSW 17 22375094 missense possibly damaging 0.85
R6501:Zfp758 UTSW 17 22371997 intron probably benign
R6805:Zfp758 UTSW 17 22361669 missense probably benign 0.00
R7076:Zfp758 UTSW 17 22375156 missense probably benign 0.11
R7147:Zfp758 UTSW 17 22376000 missense possibly damaging 0.75
R7170:Zfp758 UTSW 17 22375135 nonsense probably null
R7572:Zfp758 UTSW 17 22374891 missense possibly damaging 0.61
R7593:Zfp758 UTSW 17 22374958 missense probably damaging 0.98
R7858:Zfp758 UTSW 17 22375378 missense probably benign 0.02
R7941:Zfp758 UTSW 17 22375378 missense probably benign 0.02
Posted On2013-12-09