Incidental Mutation 'R7076:Zfp758'
ID549248
Institutional Source Beutler Lab
Gene Symbol Zfp758
Ensembl Gene ENSMUSG00000044501
Gene Namezinc finger protein 758
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #R7076 (G1)
Quality Score225.009
Status Validated
Chromosome17
Chromosomal Location22361453-22377281 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 22375156 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 208 (H208Y)
Ref Sequence ENSEMBL: ENSMUSP00000121288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072477] [ENSMUST00000088765] [ENSMUST00000121315] [ENSMUST00000149699]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072477
AA Change: H176Y

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000072298
Gene: ENSMUSG00000044501
AA Change: H176Y

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: ENSMUST00000088765
AA Change: H176Y

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000086143
Gene: ENSMUSG00000044501
AA Change: H176Y

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: ENSMUST00000121315
AA Change: H176Y

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113532
Gene: ENSMUSG00000044501
AA Change: H176Y

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: H208Y

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000121288
Gene: ENSMUSG00000044501
AA Change: H208Y

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A G 8: 55,871,659 C587R probably damaging Het
Adgrg7 T C 16: 56,742,406 T523A probably damaging Het
Arrdc3 A T 13: 80,890,696 K259M probably damaging Het
Becn1 A T 11: 101,295,324 N151K probably benign Het
Cars2 C T 8: 11,529,649 E270K probably damaging Het
Ccp110 C A 7: 118,732,405 P943Q probably damaging Het
Ccser2 A G 14: 36,939,829 I466T probably benign Het
Cd164 A G 10: 41,523,197 E94G probably benign Het
Cdon C T 9: 35,504,150 T1228I probably benign Het
Cubn C A 2: 13,306,280 V3145L probably benign Het
Cubn T A 2: 13,306,281 K3144N probably benign Het
Dchs1 A G 7: 105,761,871 V1649A probably benign Het
Dgka A T 10: 128,733,583 D153E probably damaging Het
Dip2b A G 15: 100,157,972 probably null Het
Dnajc21 T C 15: 10,449,631 T435A probably benign Het
F830016B08Rik A T 18: 60,300,471 I209F probably damaging Het
Ghdc C A 11: 100,769,714 S111I possibly damaging Het
Gm19965 T C 1: 116,821,275 C229R Het
Gpm6a C T 8: 55,037,451 T54I probably damaging Het
Gpr171 G T 3: 59,098,156 A66E probably damaging Het
Grm7 A G 6: 111,358,152 D508G probably benign Het
Has1 G A 17: 17,843,806 R524C probably damaging Het
Idh2 TCCCAGG T 7: 80,098,331 probably benign Het
Ighv3-8 A T 12: 114,322,782 L7Q probably damaging Het
Ints10 A T 8: 68,796,751 R78* probably null Het
Itpr1 A G 6: 108,388,296 I903V probably benign Het
Lrp1 A G 10: 127,550,183 probably null Het
Mki67 A G 7: 135,705,629 V132A probably damaging Het
Myh4 A G 11: 67,253,173 E1123G possibly damaging Het
Neurog3 A G 10: 62,133,580 T40A probably benign Het
Nipsnap3b T A 4: 53,021,095 probably null Het
Nr4a3 G A 4: 48,055,957 V328I probably damaging Het
Olfr1489 G T 19: 13,633,880 M256I possibly damaging Het
Olfr313 G A 11: 58,817,164 R52Q probably benign Het
Olfr487 A T 7: 108,211,998 V177D probably damaging Het
Olfr654 A T 7: 104,588,223 S140C probably damaging Het
Olfr716 T C 7: 107,148,029 F238L probably damaging Het
Olfr743 T A 14: 50,533,821 Y136* probably null Het
Osbpl5 A G 7: 143,709,840 L102P probably benign Het
Ppl C T 16: 5,100,119 R503Q probably damaging Het
Ppp2r2d T C 7: 138,876,597 M321T possibly damaging Het
Prex1 T C 2: 166,633,382 Y197C probably damaging Het
Prss32 A G 17: 23,853,921 D42G possibly damaging Het
Ralgapa1 T C 12: 55,721,576 E1210G possibly damaging Het
Sdr16c5 A G 4: 4,006,591 C234R probably damaging Het
Slc23a4 A G 6: 34,956,884 S95P probably damaging Het
Srp14 T C 2: 118,479,390 T29A probably damaging Het
Tet2 T A 3: 133,467,023 H1826L possibly damaging Het
Tfr2 A T 5: 137,583,574 Y641F probably damaging Het
Tmco5b A G 2: 113,287,421 N27D probably damaging Het
Tvp23a T C 16: 10,428,735 D62G probably benign Het
Usp12 A G 5: 146,737,752 F347S possibly damaging Het
Zfp407 A T 18: 84,558,476 L1504Q probably damaging Het
Zfp524 A G 7: 5,017,896 D141G possibly damaging Het
Zfp68 A G 5: 138,606,939 I374T possibly damaging Het
Zfp804b T C 5: 6,769,751 H1104R probably benign Het
Znrf2 T A 6: 54,842,695 *75K probably null Het
Zzef1 T C 11: 72,899,559 V2113A probably benign Het
Other mutations in Zfp758
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01550:Zfp758 APN 17 22375040 missense probably damaging 1.00
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
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
R7699:Zfp758 UTSW 17 22375665 nonsense probably null
R7858:Zfp758 UTSW 17 22375378 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CTATTGAATCGTCAAACCTCAACAG -3'
(R):5'- CCTGAATGTATTCTTTGATGCGTTC -3'

Sequencing Primer
(F):5'- TGAATCGTCAAACCTCAACAGACATG -3'
(R):5'- GTTGGTAAAGCATTTGTCACAATC -3'
Posted On2019-05-15