Incidental Mutation 'R6479:Casz1'
ID 516968
Institutional Source Beutler Lab
Gene Symbol Casz1
Ensembl Gene ENSMUSG00000028977
Gene Name castor zinc finger 1
Synonyms D4Ertd432e, Cst, castor, 2410019P08Rik
MMRRC Submission 044611-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6479 (G1)
Quality Score 201.009
Status Validated
Chromosome 4
Chromosomal Location 148888886-149039346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 149021535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 539 (H539Q)
Ref Sequence ENSEMBL: ENSMUSP00000092035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094464] [ENSMUST00000122222] [ENSMUST00000139806] [ENSMUST00000147270]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000094464
AA Change: H539Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092035
Gene: ENSMUSG00000028977
AA Change: H539Q

DomainStartEndE-ValueType
low complexity region 403 420 N/A INTRINSIC
ZnF_C2H2 489 514 5.34e0 SMART
ZnF_C2H2 550 574 8.09e-1 SMART
ZnF_C2H2 609 633 9.3e-1 SMART
low complexity region 643 658 N/A INTRINSIC
ZnF_C2H2 667 691 1.1e-2 SMART
low complexity region 698 711 N/A INTRINSIC
low complexity region 728 766 N/A INTRINSIC
low complexity region 796 807 N/A INTRINSIC
low complexity region 810 834 N/A INTRINSIC
low complexity region 875 890 N/A INTRINSIC
low complexity region 951 957 N/A INTRINSIC
ZnF_C2H2 1031 1055 2.29e1 SMART
low complexity region 1080 1091 N/A INTRINSIC
low complexity region 1105 1115 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000122222
AA Change: H539Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: H539Q

DomainStartEndE-ValueType
low complexity region 403 420 N/A INTRINSIC
ZnF_C2H2 489 514 5.34e0 SMART
ZnF_C2H2 550 574 8.09e-1 SMART
ZnF_C2H2 609 633 9.3e-1 SMART
low complexity region 643 658 N/A INTRINSIC
ZnF_C2H2 667 691 1.1e-2 SMART
low complexity region 698 711 N/A INTRINSIC
low complexity region 728 766 N/A INTRINSIC
low complexity region 796 807 N/A INTRINSIC
low complexity region 810 834 N/A INTRINSIC
low complexity region 875 890 N/A INTRINSIC
low complexity region 951 957 N/A INTRINSIC
ZnF_C2H2 1031 1055 2.29e1 SMART
low complexity region 1080 1091 N/A INTRINSIC
low complexity region 1105 1115 N/A INTRINSIC
ZnF_C2H2 1182 1206 1.59e1 SMART
ZnF_C2H2 1242 1266 2.47e1 SMART
ZnF_C2H2 1300 1324 3.47e0 SMART
ZnF_C2H2 1457 1481 7.89e0 SMART
ZnF_C2H2 1515 1537 3.21e1 SMART
ZnF_C2H2 1571 1595 3.99e0 SMART
low complexity region 1632 1649 N/A INTRINSIC
SCOP:d1qbkb_ 1675 1742 2e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139806
AA Change: H253Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120307
Gene: ENSMUSG00000028977
AA Change: H253Q

DomainStartEndE-ValueType
low complexity region 117 134 N/A INTRINSIC
ZnF_C2H2 203 228 5.34e0 SMART
ZnF_C2H2 264 288 8.09e-1 SMART
ZnF_C2H2 323 347 9.3e-1 SMART
low complexity region 357 372 N/A INTRINSIC
ZnF_C2H2 381 405 1.1e-2 SMART
low complexity region 412 425 N/A INTRINSIC
low complexity region 442 480 N/A INTRINSIC
low complexity region 510 521 N/A INTRINSIC
low complexity region 524 548 N/A INTRINSIC
low complexity region 589 604 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147270
Meta Mutation Damage Score 0.2470 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.0%
Validation Efficiency 95% (55/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete lethality throughout fetal growth and development and abnormal heart development associated with edema, decreased fetal cardiomyocyte proliferation, myocardium hypoplasia, ventricular septal defect, and altered heart shape and Z line formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A C 8: 25,119,681 (GRCm39) S533A probably benign Het
Akap6 T G 12: 53,187,952 (GRCm39) S1789A probably damaging Het
Alox15 A G 11: 70,236,011 (GRCm39) S519P probably damaging Het
Anapc2 A G 2: 25,175,407 (GRCm39) K816E probably benign Het
Atp6v1a T C 16: 43,919,121 (GRCm39) D488G probably benign Het
Banp A G 8: 122,718,176 (GRCm39) probably null Het
Camsap1 A G 2: 25,825,874 (GRCm39) C1367R possibly damaging Het
Ccl5 A G 11: 83,421,212 (GRCm39) Y26H probably benign Het
Cops3 A T 11: 59,723,898 (GRCm39) S86R probably benign Het
Cts7 A G 13: 61,503,455 (GRCm39) S170P probably benign Het
Cxcl15 A T 5: 90,943,104 (GRCm39) E35D possibly damaging Het
Dennd1b C T 1: 138,969,698 (GRCm39) probably benign Het
Dicer1 T C 12: 104,662,982 (GRCm39) D1533G probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock4 A G 12: 40,878,954 (GRCm39) E1531G probably damaging Het
Erap1 A G 13: 74,811,612 (GRCm39) probably null Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gm10309 A T 17: 86,812,007 (GRCm39) M1K probably null Het
Gm4884 A T 7: 40,690,211 (GRCm39) N36Y probably damaging Het
Hmcn1 G A 1: 150,553,053 (GRCm39) R2546* probably null Het
Hmcn2 A G 2: 31,315,480 (GRCm39) D3743G probably damaging Het
Hsd3b9 T A 3: 98,354,157 (GRCm39) E114V possibly damaging Het
Irak2 A T 6: 113,663,902 (GRCm39) N423Y probably damaging Het
Jarid2 G A 13: 45,001,765 (GRCm39) G26D probably benign Het
Kif13b A G 14: 64,988,974 (GRCm39) K785R probably benign Het
Lamc3 A T 2: 31,777,413 (GRCm39) I20F probably benign Het
Limk1 G A 5: 134,690,373 (GRCm39) probably benign Het
Lrp4 C T 2: 91,317,429 (GRCm39) T851I probably damaging Het
Med13 G A 11: 86,248,353 (GRCm39) probably benign Het
Megf10 T C 18: 57,379,642 (GRCm39) F273L possibly damaging Het
Meltf T A 16: 31,700,700 (GRCm39) D73E probably damaging Het
Mroh7 A G 4: 106,560,385 (GRCm39) F640L possibly damaging Het
Mtor T C 4: 148,635,457 (GRCm39) S2448P probably benign Het
Myo3a T C 2: 22,467,877 (GRCm39) V377A probably benign Het
Myo5b T C 18: 74,750,086 (GRCm39) V183A probably damaging Het
Nedd4l G A 18: 65,342,752 (GRCm39) R755H probably damaging Het
Nrde2 T C 12: 100,110,207 (GRCm39) T275A probably benign Het
Or52n4 A G 7: 104,294,333 (GRCm39) I80T probably benign Het
Osgepl1 T C 1: 53,360,702 (GRCm39) V381A probably benign Het
Pcdha1 C T 18: 37,064,509 (GRCm39) T391I probably benign Het
Pdp1 T C 4: 11,961,327 (GRCm39) N328S probably damaging Het
Pepd A G 7: 34,740,147 (GRCm39) E340G probably benign Het
Plch1 T C 3: 63,651,931 (GRCm39) T387A probably benign Het
Plxnb1 C A 9: 108,940,733 (GRCm39) T1536K possibly damaging Het
Rbp7 T C 4: 149,534,347 (GRCm39) T130A probably benign Het
Rhot2 A T 17: 26,060,054 (GRCm39) V309E probably benign Het
Slc37a1 A G 17: 31,557,964 (GRCm39) I421M possibly damaging Het
Slit2 T A 5: 48,389,331 (GRCm39) L585H probably damaging Het
Spint4 C A 2: 164,542,764 (GRCm39) A119D probably benign Het
Strip2 G T 6: 29,944,496 (GRCm39) probably null Het
Stxbp4 T C 11: 90,510,013 (GRCm39) Y59C probably damaging Het
Syne1 G A 10: 5,181,679 (GRCm39) Q4219* probably null Het
Syne1 A T 10: 5,406,826 (GRCm39) I37N probably damaging Het
Syne4 G T 7: 30,016,340 (GRCm39) G179* probably null Het
Tead1 T C 7: 112,460,672 (GRCm39) V192A probably benign Het
Trim37 G T 11: 87,107,313 (GRCm39) E317* probably null Het
Wdfy3 A C 5: 102,061,045 (GRCm39) Y1390D probably damaging Het
Wdr81 A G 11: 75,342,931 (GRCm39) F779L possibly damaging Het
Zfp1002 C T 2: 150,096,511 (GRCm39) G306D probably damaging Het
Other mutations in Casz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00914:Casz1 APN 4 149,013,828 (GRCm39) missense probably damaging 1.00
IGL02137:Casz1 APN 4 149,017,925 (GRCm39) missense possibly damaging 0.71
IGL02176:Casz1 APN 4 149,019,076 (GRCm39) missense probably damaging 1.00
IGL02629:Casz1 APN 4 149,028,848 (GRCm39) missense probably benign 0.01
IGL02871:Casz1 APN 4 149,028,776 (GRCm39) missense possibly damaging 0.93
FR4340:Casz1 UTSW 4 149,036,759 (GRCm39) small deletion probably benign
G1Funyon:Casz1 UTSW 4 149,030,500 (GRCm39) missense probably damaging 0.98
H8562:Casz1 UTSW 4 149,017,908 (GRCm39) missense probably damaging 1.00
R0090:Casz1 UTSW 4 149,017,868 (GRCm39) missense probably benign 0.00
R0389:Casz1 UTSW 4 149,033,368 (GRCm39) missense possibly damaging 0.83
R0443:Casz1 UTSW 4 149,033,368 (GRCm39) missense possibly damaging 0.83
R0550:Casz1 UTSW 4 149,036,741 (GRCm39) small deletion probably benign
R0597:Casz1 UTSW 4 149,028,851 (GRCm39) missense probably benign 0.00
R1117:Casz1 UTSW 4 149,019,052 (GRCm39) missense probably damaging 1.00
R1476:Casz1 UTSW 4 149,030,628 (GRCm39) missense probably benign 0.05
R1540:Casz1 UTSW 4 149,027,357 (GRCm39) unclassified probably benign
R1610:Casz1 UTSW 4 149,013,544 (GRCm39) missense possibly damaging 0.54
R1764:Casz1 UTSW 4 149,027,357 (GRCm39) unclassified probably benign
R1779:Casz1 UTSW 4 149,017,394 (GRCm39) missense probably benign 0.00
R1874:Casz1 UTSW 4 149,027,668 (GRCm39) missense probably damaging 0.99
R1902:Casz1 UTSW 4 149,020,652 (GRCm39) missense possibly damaging 0.95
R1914:Casz1 UTSW 4 149,017,415 (GRCm39) missense probably damaging 1.00
R2126:Casz1 UTSW 4 149,030,521 (GRCm39) missense probably damaging 0.99
R2261:Casz1 UTSW 4 149,013,556 (GRCm39) missense probably damaging 0.96
R2262:Casz1 UTSW 4 149,013,556 (GRCm39) missense probably damaging 0.96
R3874:Casz1 UTSW 4 149,024,046 (GRCm39) intron probably benign
R4019:Casz1 UTSW 4 149,017,335 (GRCm39) missense probably benign 0.00
R4355:Casz1 UTSW 4 149,036,792 (GRCm39) missense unknown
R4420:Casz1 UTSW 4 149,033,375 (GRCm39) missense possibly damaging 0.90
R4610:Casz1 UTSW 4 149,017,724 (GRCm39) missense probably damaging 1.00
R4632:Casz1 UTSW 4 149,036,312 (GRCm39) missense possibly damaging 0.71
R4762:Casz1 UTSW 4 149,023,438 (GRCm39) missense probably damaging 1.00
R4824:Casz1 UTSW 4 149,029,028 (GRCm39) missense probably damaging 1.00
R4907:Casz1 UTSW 4 149,028,998 (GRCm39) missense probably damaging 1.00
R5628:Casz1 UTSW 4 149,030,553 (GRCm39) missense probably damaging 1.00
R5736:Casz1 UTSW 4 149,013,867 (GRCm39) missense probably benign 0.00
R5929:Casz1 UTSW 4 149,023,426 (GRCm39) missense probably damaging 1.00
R5929:Casz1 UTSW 4 149,023,153 (GRCm39) missense probably damaging 1.00
R5932:Casz1 UTSW 4 149,023,570 (GRCm39) missense possibly damaging 0.52
R6016:Casz1 UTSW 4 149,019,041 (GRCm39) missense probably damaging 1.00
R6019:Casz1 UTSW 4 149,031,495 (GRCm39) missense probably damaging 0.99
R6139:Casz1 UTSW 4 149,036,154 (GRCm39) missense probably damaging 1.00
R6223:Casz1 UTSW 4 149,017,840 (GRCm39) missense probably damaging 1.00
R6239:Casz1 UTSW 4 149,022,734 (GRCm39) missense probably damaging 1.00
R6323:Casz1 UTSW 4 149,026,161 (GRCm39) missense possibly damaging 0.89
R6354:Casz1 UTSW 4 149,036,999 (GRCm39) missense unknown
R6454:Casz1 UTSW 4 149,035,952 (GRCm39) missense probably damaging 0.99
R6529:Casz1 UTSW 4 149,022,646 (GRCm39) missense probably damaging 1.00
R6772:Casz1 UTSW 4 149,027,663 (GRCm39) missense probably damaging 1.00
R7000:Casz1 UTSW 4 149,013,693 (GRCm39) missense probably damaging 1.00
R7152:Casz1 UTSW 4 148,985,748 (GRCm39) start gained probably benign
R7324:Casz1 UTSW 4 149,031,490 (GRCm39) missense probably damaging 0.99
R7339:Casz1 UTSW 4 149,036,202 (GRCm39) missense probably damaging 1.00
R7388:Casz1 UTSW 4 149,036,850 (GRCm39) missense unknown
R7480:Casz1 UTSW 4 149,029,043 (GRCm39) missense probably damaging 0.99
R7719:Casz1 UTSW 4 149,028,981 (GRCm39) missense probably damaging 0.99
R7789:Casz1 UTSW 4 149,013,863 (GRCm39) missense probably benign
R7801:Casz1 UTSW 4 149,022,706 (GRCm39) missense probably damaging 0.99
R7815:Casz1 UTSW 4 149,013,762 (GRCm39) missense possibly damaging 0.89
R7818:Casz1 UTSW 4 149,030,533 (GRCm39) missense probably damaging 1.00
R7938:Casz1 UTSW 4 149,028,943 (GRCm39) missense probably benign 0.05
R8045:Casz1 UTSW 4 149,017,236 (GRCm39) missense probably damaging 1.00
R8134:Casz1 UTSW 4 149,027,492 (GRCm39) missense probably damaging 1.00
R8165:Casz1 UTSW 4 149,028,888 (GRCm39) missense probably damaging 1.00
R8301:Casz1 UTSW 4 149,030,500 (GRCm39) missense probably damaging 0.98
R8419:Casz1 UTSW 4 149,033,040 (GRCm39) missense probably benign 0.29
R9047:Casz1 UTSW 4 149,023,497 (GRCm39) missense probably damaging 1.00
R9420:Casz1 UTSW 4 149,023,320 (GRCm39) missense probably damaging 0.99
R9584:Casz1 UTSW 4 148,985,704 (GRCm39) start gained probably benign
RF001:Casz1 UTSW 4 149,036,761 (GRCm39) small deletion probably benign
RF063:Casz1 UTSW 4 149,036,761 (GRCm39) small deletion probably benign
X0018:Casz1 UTSW 4 149,023,465 (GRCm39) missense probably damaging 1.00
X0064:Casz1 UTSW 4 149,017,409 (GRCm39) missense probably damaging 0.99
Z1088:Casz1 UTSW 4 149,028,816 (GRCm39) missense probably benign
Z1176:Casz1 UTSW 4 149,028,816 (GRCm39) missense probably benign
Z1177:Casz1 UTSW 4 149,028,816 (GRCm39) missense probably benign
Z1177:Casz1 UTSW 4 149,017,763 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTTGGCACATGGACTTGG -3'
(R):5'- AGCTTCTGGGACTCTACATGC -3'

Sequencing Primer
(F):5'- CACATGGACTTGGGGCACAG -3'
(R):5'- TGGGACTCTACATGCCAGCC -3'
Posted On 2018-05-21