Incidental Mutation 'R7839:Zfp40'
ID 606188
Institutional Source Beutler Lab
Gene Symbol Zfp40
Ensembl Gene ENSMUSG00000002617
Gene Name zinc finger protein 40
Synonyms Zfp-40, NTfin12
MMRRC Submission 045893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7839 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 23392843-23412226 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23395963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 208 (D208G)
Ref Sequence ENSEMBL: ENSMUSP00000039794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037057] [ENSMUST00000140313] [ENSMUST00000172177]
AlphaFold B1B1D3
Predicted Effect probably damaging
Transcript: ENSMUST00000037057
AA Change: D208G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039794
Gene: ENSMUSG00000002617
AA Change: D208G

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 probably damaging
Transcript: ENSMUST00000140313
AA Change: D140G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121359
Gene: ENSMUSG00000002617
AA Change: D140G

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 probably damaging
Transcript: ENSMUST00000172177
AA Change: D208G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128758
Gene: ENSMUSG00000002617
AA Change: D208G

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,025,085 (GRCm39) M986K probably benign Het
Adcyap1 A G 17: 93,511,413 (GRCm39) K129R probably benign Het
Anapc1 T C 2: 128,526,528 (GRCm39) D90G probably damaging Het
Ankrd17 G A 5: 90,411,213 (GRCm39) H1361Y probably damaging Het
Aqp4 T A 18: 15,532,737 (GRCm39) I119F possibly damaging Het
Bfsp1 T A 2: 143,673,770 (GRCm39) I313F possibly damaging Het
Cxcl9 A G 5: 92,475,869 (GRCm39) V5A probably benign Het
Cyfip1 G A 7: 55,536,483 (GRCm39) V304M probably damaging Het
Cyp2d22 A G 15: 82,256,772 (GRCm39) V334A probably damaging Het
Cyp2j12 A G 4: 95,987,893 (GRCm39) V499A possibly damaging Het
Cyth3 A G 5: 143,683,509 (GRCm39) E136G probably benign Het
Degs2 CTTAGTGAAT CT 12: 108,658,460 (GRCm39) probably null Het
Dnah7a A G 1: 53,606,334 (GRCm39) S1229P probably benign Het
Dop1a T A 9: 86,424,818 (GRCm39) C2087* probably null Het
Dop1b A T 16: 93,560,829 (GRCm39) H889L probably damaging Het
Elf1 A G 14: 79,773,855 (GRCm39) E22G probably benign Het
Gbgt1 T C 2: 28,393,182 (GRCm39) V90A probably damaging Het
Glis3 T C 19: 28,294,773 (GRCm39) D675G possibly damaging Het
Glt8d1 G T 14: 30,723,788 (GRCm39) probably benign Het
Gzf1 T A 2: 148,525,815 (GRCm39) Y95* probably null Het
Insig2 T C 1: 121,240,049 (GRCm39) I84V probably benign Het
Mapkapk2 A G 1: 131,025,256 (GRCm39) S3P unknown Het
Nell2 T C 15: 95,196,819 (GRCm39) N499S probably benign Het
Nlrp9b G A 7: 19,758,398 (GRCm39) R545H possibly damaging Het
Obox7 T A 7: 14,399,350 (GRCm39) I192N probably benign Het
Or10ad1 T C 15: 98,106,026 (GRCm39) I80V probably damaging Het
Or6c76b A T 10: 129,692,899 (GRCm39) I171F possibly damaging Het
Plec A T 15: 76,060,583 (GRCm39) V3118E probably damaging Het
Plk3 T C 4: 116,986,527 (GRCm39) T571A probably damaging Het
Ppa2 T C 3: 133,082,351 (GRCm39) probably null Het
Rabl6 A T 2: 25,482,829 (GRCm39) H183Q probably damaging Het
Rad51ap2 T A 12: 11,507,238 (GRCm39) S387T possibly damaging Het
Rbm33 A G 5: 28,573,397 (GRCm39) probably null Het
Robo4 T C 9: 37,322,055 (GRCm39) S724P probably damaging Het
Rtf2 T C 2: 172,308,253 (GRCm39) probably null Het
Sft2d1rt T C 11: 45,942,887 (GRCm39) T79A possibly damaging Het
Slc45a2 A T 15: 11,027,835 (GRCm39) Q468L probably benign Het
Slc6a15 A G 10: 103,240,660 (GRCm39) I428V probably benign Het
Sp140l2 C T 1: 85,224,736 (GRCm39) M266I probably benign Het
Taar7f C A 10: 23,925,967 (GRCm39) A187E possibly damaging Het
Tmt1a T C 15: 100,202,957 (GRCm39) V77A possibly damaging Het
Tob1 T A 11: 94,104,598 (GRCm39) Y45N probably damaging Het
Trappc10 A G 10: 78,024,646 (GRCm39) V1161A possibly damaging Het
Trbv13-2 T C 6: 41,098,521 (GRCm39) V32A probably benign Het
Trpm8 T A 1: 88,254,176 (GRCm39) L133Q possibly damaging Het
Ttn T C 2: 76,538,512 (GRCm39) T34729A probably benign Het
Uba6 G T 5: 86,270,271 (GRCm39) probably null Het
Unc13c T C 9: 73,840,596 (GRCm39) D85G possibly damaging Het
Vmn1r176 T C 7: 23,534,394 (GRCm39) D253G possibly damaging Het
Vmn2r34 T A 7: 7,687,173 (GRCm39) I175F possibly damaging Het
Vmn2r61 T A 7: 41,916,032 (GRCm39) I215N probably damaging Het
Vwa5a C A 9: 38,634,799 (GRCm39) S202R probably damaging Het
Zfp383 G A 7: 29,614,483 (GRCm39) C246Y probably damaging Het
Zfp992 C A 4: 146,550,875 (GRCm39) L199I 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
IGL02729:Zfp40 APN 17 23,397,285 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- CTCCTCTTCAGAGTGAATTCTGTAATG -3'
(R):5'- CCAATGGGATCCATCTAATGAATC -3'

Sequencing Primer
(F):5'- TTGTGGTGTGATAAATACAGAATGG -3'
(R):5'- GTGTTCCATCATTGGCTCA -3'
Posted On 2019-12-20