Incidental Mutation 'R6805:Zfp758'
ID 533557
Institutional Source Beutler Lab
Gene Symbol Zfp758
Ensembl Gene ENSMUSG00000044501
Gene Name zinc finger protein 758
Synonyms
MMRRC Submission 044918-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R6805 (G1)
Quality Score 116.008
Status Validated
Chromosome 17
Chromosomal Location 22580434-22596262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22580650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 30 (T30A)
Ref Sequence ENSEMBL: ENSMUSP00000121288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072477] [ENSMUST00000088765] [ENSMUST00000115535] [ENSMUST00000121315] [ENSMUST00000149699]
AlphaFold E9QAA1
Predicted Effect probably benign
Transcript: ENSMUST00000072477
SMART Domains Protein: ENSMUSP00000072298
Gene: ENSMUSG00000044501

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 benign
Transcript: ENSMUST00000088765
SMART Domains Protein: ENSMUSP00000086143
Gene: ENSMUSG00000044501

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 benign
Transcript: ENSMUST00000115535
SMART Domains Protein: ENSMUSP00000111197
Gene: ENSMUSG00000033972

DomainStartEndE-ValueType
KRAB 13 76 2.08e-21 SMART
ZnF_C2H2 183 205 1.01e-1 SMART
ZnF_C2H2 211 233 1.07e0 SMART
ZnF_C2H2 239 261 1.95e-3 SMART
ZnF_C2H2 267 289 1.22e-4 SMART
ZnF_C2H2 295 317 2.24e-3 SMART
ZnF_C2H2 323 345 1.82e-3 SMART
ZnF_C2H2 351 373 5.99e-4 SMART
ZnF_C2H2 379 401 4.79e-3 SMART
ZnF_C2H2 407 429 2.99e-4 SMART
ZnF_C2H2 435 457 4.17e-3 SMART
ZnF_C2H2 463 485 1.36e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121315
SMART Domains Protein: ENSMUSP00000113532
Gene: ENSMUSG00000044501

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 benign
Transcript: ENSMUST00000149699
AA Change: T30A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121288
Gene: ENSMUSG00000044501
AA Change: T30A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 97.1%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,946,744 (GRCm39) T214A possibly damaging Het
A930009A15Rik G T 10: 115,415,810 (GRCm39) probably benign Het
Aadac A C 3: 59,944,757 (GRCm39) D143A probably benign Het
Acot10 T G 15: 20,665,452 (GRCm39) T430P probably benign Het
Adgrb3 T C 1: 25,865,253 (GRCm39) T197A possibly damaging Het
Bbs1 A G 19: 4,950,643 (GRCm39) I200T probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cadps G A 14: 12,467,103 (GRCm38) A943V probably damaging Het
Cc2d2a A G 5: 43,838,673 (GRCm39) E48G probably damaging Het
Clca3a1 A T 3: 144,724,428 (GRCm39) C211S probably damaging Het
Col18a1 A G 10: 76,890,073 (GRCm39) L1429P probably damaging Het
Cplane1 T C 15: 8,273,790 (GRCm39) V2591A probably benign Het
Cul2 T G 18: 3,421,263 (GRCm39) Y196D probably damaging Het
D630023F18Rik T C 1: 65,156,365 (GRCm39) S43G probably benign Het
Ddx39a G A 8: 84,449,766 (GRCm39) R427Q probably damaging Het
Def6 A G 17: 28,442,691 (GRCm39) T285A probably damaging Het
Defb21 T A 2: 152,416,789 (GRCm39) D88E probably benign Het
Defb6 A G 8: 19,278,117 (GRCm39) K63R probably benign Het
Dnph1 T C 17: 46,809,670 (GRCm39) S112P probably damaging Het
Dock10 T A 1: 80,564,407 (GRCm39) I467L probably benign Het
Dspp C A 5: 104,323,716 (GRCm39) H286Q probably benign Het
Eya1 T A 1: 14,253,501 (GRCm39) T459S probably benign Het
Faf1 T C 4: 109,719,049 (GRCm39) L385P probably damaging Het
Fbxw21 C A 9: 108,986,633 (GRCm39) R82L probably damaging Het
Fryl A G 5: 73,222,437 (GRCm39) V2048A probably benign Het
Galnt5 A T 2: 57,925,311 (GRCm39) D864V possibly damaging Het
Gata6 T G 18: 11,054,460 (GRCm39) S130A possibly damaging Het
Gbf1 G T 19: 46,250,946 (GRCm39) R434L probably damaging Het
Gga3 A G 11: 115,476,588 (GRCm39) F709L probably damaging Het
Hcar1 A G 5: 124,017,193 (GRCm39) V166A probably benign Het
Hexa T A 9: 59,471,220 (GRCm39) N491K possibly damaging Het
Hpse2 A T 19: 43,282,760 (GRCm39) C164* probably null Het
Ifi202b T C 1: 173,802,555 (GRCm39) Y93C probably damaging Het
Iftap T C 2: 101,396,804 (GRCm39) K192E probably benign Het
Iscu T A 5: 113,913,304 (GRCm39) I79N probably damaging Het
Jmjd7 T A 2: 119,861,804 (GRCm39) Y182* probably null Het
Jup A T 11: 100,274,284 (GRCm39) D135E probably benign Het
Kit T A 5: 75,813,468 (GRCm39) I881N probably damaging Het
Llgl1 T A 11: 60,593,691 (GRCm39) S55T probably benign Het
Lonp2 G A 8: 87,435,724 (GRCm39) M653I probably benign Het
Lrp8 T C 4: 107,711,517 (GRCm39) Y307H probably damaging Het
Med13 A T 11: 86,169,622 (GRCm39) M1914K possibly damaging Het
Ms4a1 A G 19: 11,230,537 (GRCm39) probably null Het
Naip1 A G 13: 100,563,849 (GRCm39) S439P probably benign Het
Nrg1 T C 8: 32,311,292 (GRCm39) R476G probably damaging Het
Or10ag59 T A 2: 87,405,262 (GRCm39) probably null Het
Or7g20 G T 9: 18,946,597 (GRCm39) M59I probably damaging Het
Pds5b T A 5: 150,729,026 (GRCm39) probably null Het
Phf12 G A 11: 77,918,199 (GRCm39) G804R probably damaging Het
Pou6f2 T C 13: 18,414,074 (GRCm39) T234A Het
Prune2 A T 19: 17,097,954 (GRCm39) I1153L probably benign Het
Ptprc C T 1: 137,995,623 (GRCm39) probably null Het
Qpctl T C 7: 18,883,079 (GRCm39) Q11R probably benign Het
Rfx4 A G 10: 84,676,092 (GRCm39) K103E possibly damaging Het
Srcin1 T A 11: 97,442,806 (GRCm39) probably null Het
St6galnac1 G T 11: 116,659,770 (GRCm39) A181D probably damaging Het
Stk36 T C 1: 74,661,398 (GRCm39) V475A probably benign Het
Tbc1d21 T C 9: 58,268,571 (GRCm39) T263A possibly damaging Het
Tex24 A T 8: 27,835,028 (GRCm39) K185N probably damaging Het
Tnxb T A 17: 34,917,127 (GRCm39) V2174E possibly damaging Het
Tollip A G 7: 141,444,582 (GRCm39) S57P probably benign Het
Zbtb49 A G 5: 38,370,585 (GRCm39) probably benign Het
Other mutations in Zfp758
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01550:Zfp758 APN 17 22,594,021 (GRCm39) missense probably damaging 1.00
R1034:Zfp758 UTSW 17 22,594,740 (GRCm39) nonsense probably null
R1187:Zfp758 UTSW 17 22,594,171 (GRCm39) missense probably benign 0.23
R1733:Zfp758 UTSW 17 22,594,830 (GRCm39) missense probably damaging 1.00
R1847:Zfp758 UTSW 17 22,594,204 (GRCm39) missense probably benign 0.19
R1927:Zfp758 UTSW 17 22,594,823 (GRCm39) missense probably damaging 0.99
R1934:Zfp758 UTSW 17 22,592,633 (GRCm39) missense probably damaging 0.99
R2113:Zfp758 UTSW 17 22,580,626 (GRCm39) missense probably benign 0.10
R2132:Zfp758 UTSW 17 22,594,951 (GRCm39) missense probably damaging 1.00
R5134:Zfp758 UTSW 17 22,594,386 (GRCm39) missense probably damaging 1.00
R5274:Zfp758 UTSW 17 22,594,836 (GRCm39) missense probably benign 0.31
R5303:Zfp758 UTSW 17 22,593,842 (GRCm39) missense probably benign 0.05
R5394:Zfp758 UTSW 17 22,591,049 (GRCm39) missense probably damaging 0.99
R5813:Zfp758 UTSW 17 22,594,796 (GRCm39) missense probably damaging 1.00
R6017:Zfp758 UTSW 17 22,592,712 (GRCm39) missense probably damaging 1.00
R6411:Zfp758 UTSW 17 22,594,075 (GRCm39) missense possibly damaging 0.85
R6501:Zfp758 UTSW 17 22,590,978 (GRCm39) intron probably benign
R7076:Zfp758 UTSW 17 22,594,137 (GRCm39) missense probably benign 0.11
R7147:Zfp758 UTSW 17 22,594,981 (GRCm39) missense possibly damaging 0.75
R7170:Zfp758 UTSW 17 22,594,116 (GRCm39) nonsense probably null
R7572:Zfp758 UTSW 17 22,593,872 (GRCm39) missense possibly damaging 0.61
R7593:Zfp758 UTSW 17 22,593,939 (GRCm39) missense probably damaging 0.98
R7699:Zfp758 UTSW 17 22,594,646 (GRCm39) nonsense probably null
R7858:Zfp758 UTSW 17 22,594,359 (GRCm39) missense probably benign 0.02
R9377:Zfp758 UTSW 17 22,593,925 (GRCm39) missense probably benign 0.35
R9717:Zfp758 UTSW 17 22,593,829 (GRCm39) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- TCCTTAATTACGTTGGTAGAGTCC -3'
(R):5'- CCAACTGTTCATAAGATCTCAACTTCC -3'

Sequencing Primer
(F):5'- AATTACGTTGGTAGAGTCCGTCCAG -3'
(R):5'- TTCCTGACAACTGTAAGAGATCC -3'
Posted On 2018-09-12