Incidental Mutation 'IGL02729:Zfp40'
ID 305384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp40
Ensembl Gene ENSMUSG00000002617
Gene Name zinc finger protein 40
Synonyms Zfp-40, NTfin12
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02729
Quality Score
Status
Chromosome 17
Chromosomal Location 23392843-23412226 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23397285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 3 (V3I)
Ref Sequence ENSEMBL: ENSMUSP00000121359 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037057] [ENSMUST00000140313] [ENSMUST00000172177]
AlphaFold B1B1D3
Predicted Effect possibly damaging
Transcript: ENSMUST00000037057
AA Change: V71I

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039794
Gene: ENSMUSG00000002617
AA Change: V71I

DomainStartEndE-ValueType
KRAB 43 103 2.96e-17 SMART
ZnF_C2H2 225 247 1.47e-3 SMART
ZnF_C2H2 281 302 5.77e0 SMART
ZnF_C2H2 308 330 4.34e0 SMART
ZnF_C2H2 336 358 1.82e-3 SMART
ZnF_C2H2 363 385 4.24e-4 SMART
ZnF_C2H2 391 413 2.75e-3 SMART
ZnF_C2H2 419 441 1.38e-3 SMART
ZnF_C2H2 447 469 9.58e-3 SMART
ZnF_C2H2 475 497 1.47e-3 SMART
ZnF_C2H2 503 525 8.47e-4 SMART
ZnF_C2H2 531 553 2.57e-3 SMART
ZnF_C2H2 559 581 8.47e-4 SMART
ZnF_C2H2 587 609 4.54e-4 SMART
ZnF_C2H2 615 636 1.26e1 SMART
ZnF_C2H2 642 664 5.59e-4 SMART
ZnF_C2H2 670 692 3.21e-4 SMART
ZnF_C2H2 698 720 2.24e-3 SMART
ZnF_C2H2 726 748 1.2e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135840
Predicted Effect probably damaging
Transcript: ENSMUST00000140313
AA Change: V3I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121359
Gene: ENSMUSG00000002617
AA Change: V3I

DomainStartEndE-ValueType
Blast:KRAB 1 35 4e-16 BLAST
ZnF_C2H2 157 179 1.47e-3 SMART
ZnF_C2H2 213 234 5.77e0 SMART
ZnF_C2H2 240 262 4.34e0 SMART
ZnF_C2H2 268 290 1.82e-3 SMART
ZnF_C2H2 295 317 4.24e-4 SMART
ZnF_C2H2 323 345 2.75e-3 SMART
ZnF_C2H2 351 373 1.38e-3 SMART
ZnF_C2H2 379 401 9.58e-3 SMART
ZnF_C2H2 407 429 1.47e-3 SMART
ZnF_C2H2 435 457 8.47e-4 SMART
ZnF_C2H2 463 485 2.57e-3 SMART
ZnF_C2H2 491 513 8.47e-4 SMART
ZnF_C2H2 519 541 4.54e-4 SMART
ZnF_C2H2 547 568 1.26e1 SMART
ZnF_C2H2 574 596 5.59e-4 SMART
ZnF_C2H2 602 624 3.21e-4 SMART
ZnF_C2H2 630 652 2.24e-3 SMART
ZnF_C2H2 658 680 1.2e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142999
Predicted Effect possibly damaging
Transcript: ENSMUST00000172177
AA Change: V71I

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128758
Gene: ENSMUSG00000002617
AA Change: V71I

DomainStartEndE-ValueType
KRAB 43 103 2.96e-17 SMART
ZnF_C2H2 225 247 1.47e-3 SMART
ZnF_C2H2 281 302 5.77e0 SMART
ZnF_C2H2 308 330 4.34e0 SMART
ZnF_C2H2 336 358 1.82e-3 SMART
ZnF_C2H2 363 385 4.24e-4 SMART
ZnF_C2H2 391 413 2.75e-3 SMART
ZnF_C2H2 419 441 1.38e-3 SMART
ZnF_C2H2 447 469 9.58e-3 SMART
ZnF_C2H2 475 497 1.47e-3 SMART
ZnF_C2H2 503 525 8.47e-4 SMART
ZnF_C2H2 531 553 2.57e-3 SMART
ZnF_C2H2 559 581 8.47e-4 SMART
ZnF_C2H2 587 609 4.54e-4 SMART
ZnF_C2H2 615 636 1.26e1 SMART
ZnF_C2H2 642 664 5.59e-4 SMART
ZnF_C2H2 670 692 3.21e-4 SMART
ZnF_C2H2 698 720 2.24e-3 SMART
ZnF_C2H2 726 748 1.2e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,499,455 (GRCm39) E1358G probably benign Het
Alpk1 T A 3: 127,474,721 (GRCm39) L427F possibly damaging Het
Atat1 T C 17: 36,209,283 (GRCm39) T326A probably benign Het
Calcr T A 6: 3,707,595 (GRCm39) H235L probably benign Het
Cdc16 A G 8: 13,829,250 (GRCm39) D512G possibly damaging Het
Cilp G A 9: 65,185,372 (GRCm39) R489Q possibly damaging Het
Ddx4 C T 13: 112,787,946 (GRCm39) probably benign Het
Dennd1c T C 17: 57,373,637 (GRCm39) D612G probably benign Het
Hyal6 A C 6: 24,734,694 (GRCm39) Y209S probably damaging Het
Irf4 T C 13: 30,937,574 (GRCm39) probably null Het
Itgae T C 11: 73,009,029 (GRCm39) probably benign Het
L3mbtl4 C T 17: 68,791,738 (GRCm39) T272I probably benign Het
Lyst T C 13: 13,848,924 (GRCm39) I2037T possibly damaging Het
Lyst C A 13: 13,921,194 (GRCm39) P3380Q possibly damaging Het
Mgat4b A G 11: 50,124,136 (GRCm39) I359V probably benign Het
Mybl1 A T 1: 9,742,795 (GRCm39) D604E probably benign Het
Myh7b A T 2: 155,467,609 (GRCm39) S745C probably damaging Het
Or13c7 C A 4: 43,854,439 (GRCm39) N43K probably damaging Het
Or1ad8 T C 11: 50,897,892 (GRCm39) F31S probably damaging Het
Or6c212 T G 10: 129,559,390 (GRCm39) I8L probably benign Het
Pced1a A T 2: 130,263,823 (GRCm39) H276Q probably benign Het
Pdx1 C A 5: 147,211,424 (GRCm39) P215Q probably benign Het
Pdzd7 T C 19: 45,034,082 (GRCm39) M1V probably null Het
Prrc2b T A 2: 32,098,770 (GRCm39) M621K probably damaging Het
Ptprh T G 7: 4,583,873 (GRCm39) N240H probably damaging Het
Rsph1 T A 17: 31,492,293 (GRCm39) E91V probably damaging Het
Scn1a A G 2: 66,129,994 (GRCm39) C1274R probably damaging Het
Skic2 G A 17: 35,058,581 (GRCm39) P1179S possibly damaging Het
Skint7 C A 4: 111,839,367 (GRCm39) F220L probably benign Het
Slit1 T A 19: 41,591,773 (GRCm39) Y1283F probably damaging Het
Taf1b A G 12: 24,597,624 (GRCm39) probably benign Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Utrn A G 10: 12,596,554 (GRCm39) probably benign Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Zfp276 T C 8: 123,994,555 (GRCm39) Y541H probably damaging Het
Zfp536 T A 7: 37,193,143 (GRCm39) H766L probably damaging Het
Zfyve21 A G 12: 111,791,485 (GRCm39) I157V probably benign Het
Other mutations in Zfp40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00719:Zfp40 APN 17 23,394,716 (GRCm39) missense probably benign 0.18
IGL02664:Zfp40 APN 17 23,395,960 (GRCm39) missense probably benign 0.14
R1288:Zfp40 UTSW 17 23,401,136 (GRCm39) missense probably benign 0.01
R1450:Zfp40 UTSW 17 23,394,232 (GRCm39) missense probably benign 0.15
R1535:Zfp40 UTSW 17 23,394,843 (GRCm39) missense probably damaging 1.00
R1655:Zfp40 UTSW 17 23,396,240 (GRCm39) missense probably benign 0.01
R1797:Zfp40 UTSW 17 23,394,514 (GRCm39) missense possibly damaging 0.93
R2254:Zfp40 UTSW 17 23,397,344 (GRCm39) missense possibly damaging 0.92
R3764:Zfp40 UTSW 17 23,396,101 (GRCm39) missense possibly damaging 0.49
R4356:Zfp40 UTSW 17 23,396,164 (GRCm39) missense probably benign 0.15
R4402:Zfp40 UTSW 17 23,395,693 (GRCm39) missense possibly damaging 0.49
R4781:Zfp40 UTSW 17 23,394,629 (GRCm39) missense probably damaging 0.99
R4792:Zfp40 UTSW 17 23,396,008 (GRCm39) missense possibly damaging 0.79
R6142:Zfp40 UTSW 17 23,395,311 (GRCm39) missense probably benign 0.40
R6179:Zfp40 UTSW 17 23,397,354 (GRCm39) missense possibly damaging 0.51
R6759:Zfp40 UTSW 17 23,395,510 (GRCm39) missense possibly damaging 0.95
R7294:Zfp40 UTSW 17 23,395,411 (GRCm39) missense possibly damaging 0.60
R7332:Zfp40 UTSW 17 23,395,155 (GRCm39) nonsense probably null
R7386:Zfp40 UTSW 17 23,395,981 (GRCm39) missense probably damaging 0.96
R7462:Zfp40 UTSW 17 23,397,362 (GRCm39) missense possibly damaging 0.71
R7479:Zfp40 UTSW 17 23,396,292 (GRCm39) missense probably benign 0.23
R7641:Zfp40 UTSW 17 23,397,257 (GRCm39) missense possibly damaging 0.92
R7725:Zfp40 UTSW 17 23,397,251 (GRCm39) missense probably benign 0.38
R7825:Zfp40 UTSW 17 23,395,301 (GRCm39) missense probably benign 0.24
R7839:Zfp40 UTSW 17 23,395,963 (GRCm39) missense probably damaging 0.99
R7881:Zfp40 UTSW 17 23,410,440 (GRCm39) unclassified probably benign
R8501:Zfp40 UTSW 17 23,397,272 (GRCm39) missense probably damaging 0.99
R8722:Zfp40 UTSW 17 23,395,157 (GRCm39) missense probably damaging 1.00
R8853:Zfp40 UTSW 17 23,394,691 (GRCm39) missense possibly damaging 0.95
R8945:Zfp40 UTSW 17 23,401,201 (GRCm39) missense probably benign
R9206:Zfp40 UTSW 17 23,394,551 (GRCm39) missense probably damaging 0.98
R9208:Zfp40 UTSW 17 23,394,551 (GRCm39) missense probably damaging 0.98
R9406:Zfp40 UTSW 17 23,396,129 (GRCm39) missense possibly damaging 0.91
R9640:Zfp40 UTSW 17 23,394,493 (GRCm39) missense probably damaging 1.00
R9765:Zfp40 UTSW 17 23,395,863 (GRCm39) nonsense probably null
X0022:Zfp40 UTSW 17 23,396,128 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16