Incidental Mutation 'R5843:Zim1'
ID 450540
Institutional Source Beutler Lab
Gene Symbol Zim1
Ensembl Gene ENSMUSG00000002266
Gene Name zinc finger, imprinted 1
Synonyms
MMRRC Submission 043224-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R5843 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 6677443-6699521 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6680697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 322 (V322A)
Ref Sequence ENSEMBL: ENSMUSP00000145453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002336] [ENSMUST00000122432] [ENSMUST00000203908]
AlphaFold Q8C393
Predicted Effect possibly damaging
Transcript: ENSMUST00000002336
AA Change: V322A

PolyPhen 2 Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000002336
Gene: ENSMUSG00000002266
AA Change: V322A

DomainStartEndE-ValueType
KRAB 50 110 5.78e-29 SMART
low complexity region 189 203 N/A INTRINSIC
low complexity region 215 234 N/A INTRINSIC
ZnF_C2H2 269 291 5.59e-4 SMART
ZnF_C2H2 297 319 2.05e-2 SMART
ZnF_C2H2 325 347 1.4e-4 SMART
ZnF_C2H2 353 375 8.6e-5 SMART
ZnF_C2H2 381 403 8.47e-4 SMART
ZnF_C2H2 409 431 2.71e-2 SMART
ZnF_C2H2 437 459 6.88e-4 SMART
ZnF_C2H2 465 487 6.32e-3 SMART
ZnF_C2H2 493 515 1.56e-2 SMART
ZnF_C2H2 521 543 3.95e-4 SMART
ZnF_C2H2 549 571 7.49e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000122432
AA Change: V322A

PolyPhen 2 Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113585
Gene: ENSMUSG00000002266
AA Change: V322A

DomainStartEndE-ValueType
KRAB 50 110 5.78e-29 SMART
low complexity region 189 203 N/A INTRINSIC
low complexity region 215 234 N/A INTRINSIC
ZnF_C2H2 269 291 5.59e-4 SMART
ZnF_C2H2 297 319 2.05e-2 SMART
ZnF_C2H2 325 347 1.4e-4 SMART
ZnF_C2H2 353 375 8.6e-5 SMART
ZnF_C2H2 381 403 8.47e-4 SMART
ZnF_C2H2 409 431 2.71e-2 SMART
ZnF_C2H2 437 459 6.88e-4 SMART
ZnF_C2H2 465 487 6.32e-3 SMART
ZnF_C2H2 493 515 1.56e-2 SMART
ZnF_C2H2 521 543 3.95e-4 SMART
ZnF_C2H2 549 571 7.49e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000203908
AA Change: V322A

PolyPhen 2 Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145453
Gene: ENSMUSG00000002266
AA Change: V322A

DomainStartEndE-ValueType
KRAB 50 110 5.78e-29 SMART
low complexity region 189 203 N/A INTRINSIC
low complexity region 215 234 N/A INTRINSIC
ZnF_C2H2 269 291 5.59e-4 SMART
ZnF_C2H2 297 319 2.05e-2 SMART
ZnF_C2H2 325 347 1.4e-4 SMART
ZnF_C2H2 353 375 8.6e-5 SMART
ZnF_C2H2 381 403 8.47e-4 SMART
ZnF_C2H2 409 431 2.71e-2 SMART
ZnF_C2H2 437 459 6.88e-4 SMART
ZnF_C2H2 465 487 6.32e-3 SMART
ZnF_C2H2 493 515 1.56e-2 SMART
ZnF_C2H2 521 543 3.95e-4 SMART
ZnF_C2H2 549 571 7.49e0 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A G 1: 89,537,272 (GRCm39) T93A probably damaging Het
Atp6v1h T A 1: 5,232,312 (GRCm39) probably null Het
Ccnk T C 12: 108,159,989 (GRCm39) V157A probably damaging Het
Cdh10 T C 15: 18,985,286 (GRCm39) F317L possibly damaging Het
Chn1 A G 2: 73,510,092 (GRCm39) I139T probably benign Het
Creld2 A T 15: 88,710,632 (GRCm39) D349V probably damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Frem1 T C 4: 82,854,289 (GRCm39) D1660G probably damaging Het
Hipk3 A C 2: 104,270,569 (GRCm39) S470R possibly damaging Het
Hook2 T A 8: 85,717,912 (GRCm39) I37K probably damaging Het
Hpcal1 T C 12: 17,841,200 (GRCm39) F193L probably benign Het
Hps4 T C 5: 112,497,296 (GRCm39) probably null Het
Iqgap1 T C 7: 80,375,828 (GRCm39) N1349S probably benign Het
Khk A G 5: 31,079,275 (GRCm39) I6V possibly damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lrch3 T C 16: 32,818,896 (GRCm39) V629A probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Muc13 A G 16: 33,626,421 (GRCm39) Y320C probably damaging Het
Or2aj4 T A 16: 19,385,333 (GRCm39) Q100L probably damaging Het
Or2y1b A T 11: 49,209,076 (GRCm39) R234S probably benign Het
Or5ac21 T A 16: 59,123,724 (GRCm39) D69E probably damaging Het
Parpbp A G 10: 87,969,053 (GRCm39) L131P probably damaging Het
Prl3a1 T C 13: 27,454,093 (GRCm39) W24R probably damaging Het
Ptprk T A 10: 28,369,060 (GRCm39) N677K probably damaging Het
Rbm39 A T 2: 156,004,793 (GRCm39) D181E possibly damaging Het
Ros1 T C 10: 52,042,293 (GRCm39) T220A possibly damaging Het
Slc46a3 T C 5: 147,823,021 (GRCm39) I274V probably benign Het
Tas2r104 T A 6: 131,661,938 (GRCm39) N257I probably damaging Het
Timeless A G 10: 128,080,113 (GRCm39) probably null Het
Tmem63a T C 1: 180,800,398 (GRCm39) probably null Het
Traf5 T C 1: 191,729,446 (GRCm39) D535G possibly damaging Het
Trank1 C T 9: 111,194,928 (GRCm39) S984L possibly damaging Het
Trpm6 A G 19: 18,833,539 (GRCm39) T1573A probably benign Het
Ube3b T A 5: 114,550,360 (GRCm39) I835N probably damaging Het
Wnt16 T A 6: 22,290,947 (GRCm39) I125N probably damaging Het
Xirp2 G T 2: 67,307,129 (GRCm39) probably benign Het
Zbtb47 T C 9: 121,596,405 (GRCm39) F624S possibly damaging Het
Zc3h12c G T 9: 52,027,982 (GRCm39) T460K probably benign Het
Zfp865 C A 7: 5,033,416 (GRCm39) T467K probably benign Het
Other mutations in Zim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Zim1 APN 7 6,685,759 (GRCm39) missense possibly damaging 0.95
IGL01921:Zim1 APN 7 6,685,184 (GRCm39) splice site probably benign
IGL02116:Zim1 APN 7 6,681,253 (GRCm39) missense probably benign 0.00
IGL02252:Zim1 APN 7 6,691,627 (GRCm39) missense unknown
IGL02354:Zim1 APN 7 6,685,873 (GRCm39) splice site probably null
IGL02361:Zim1 APN 7 6,685,873 (GRCm39) splice site probably null
IGL03025:Zim1 APN 7 6,685,058 (GRCm39) missense probably benign 0.00
R0003:Zim1 UTSW 7 6,679,947 (GRCm39) missense probably benign 0.01
R1347:Zim1 UTSW 7 6,680,430 (GRCm39) missense probably damaging 1.00
R1347:Zim1 UTSW 7 6,680,430 (GRCm39) missense probably damaging 1.00
R1483:Zim1 UTSW 7 6,685,124 (GRCm39) missense probably benign 0.00
R2106:Zim1 UTSW 7 6,681,073 (GRCm39) missense probably benign 0.02
R2315:Zim1 UTSW 7 6,680,067 (GRCm39) missense possibly damaging 0.86
R2508:Zim1 UTSW 7 6,680,430 (GRCm39) small insertion probably benign
R2508:Zim1 UTSW 7 6,680,429 (GRCm39) small insertion probably benign
R3706:Zim1 UTSW 7 6,680,290 (GRCm39) missense probably damaging 0.97
R3975:Zim1 UTSW 7 6,680,129 (GRCm39) missense probably damaging 1.00
R5524:Zim1 UTSW 7 6,680,320 (GRCm39) missense probably benign 0.34
R5557:Zim1 UTSW 7 6,680,710 (GRCm39) missense probably damaging 1.00
R5844:Zim1 UTSW 7 6,681,115 (GRCm39) missense probably benign 0.21
R5882:Zim1 UTSW 7 6,685,737 (GRCm39) critical splice donor site probably null
R6828:Zim1 UTSW 7 6,680,688 (GRCm39) missense probably damaging 1.00
R6953:Zim1 UTSW 7 6,690,706 (GRCm39) missense unknown
R7080:Zim1 UTSW 7 6,680,305 (GRCm39) missense possibly damaging 0.92
R7148:Zim1 UTSW 7 6,681,220 (GRCm39) missense possibly damaging 0.91
R7199:Zim1 UTSW 7 6,680,872 (GRCm39) nonsense probably null
R7332:Zim1 UTSW 7 6,680,352 (GRCm39) missense probably damaging 1.00
R7462:Zim1 UTSW 7 6,680,811 (GRCm39) missense probably damaging 1.00
R8350:Zim1 UTSW 7 6,685,064 (GRCm39) missense probably damaging 0.99
R9480:Zim1 UTSW 7 6,681,050 (GRCm39) missense probably benign 0.20
R9510:Zim1 UTSW 7 6,690,739 (GRCm39) nonsense probably null
R9761:Zim1 UTSW 7 6,680,771 (GRCm39) missense probably damaging 1.00
Z1088:Zim1 UTSW 7 6,680,658 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- GGTATGGATCCTCTTGTGCTCC -3'
(R):5'- CAGACCATGAGGAGCAGTTC -3'

Sequencing Primer
(F):5'- GGCCGAAGCACTTGTTACACTC -3'
(R):5'- AAGCCTGCCCGACAAGG -3'
Posted On 2016-12-20