Incidental Mutation 'R0090:Casz1'
ID 20131
Institutional Source Beutler Lab
Gene Symbol Casz1
Ensembl Gene ENSMUSG00000028977
Gene Name castor zinc finger 1
Synonyms D4Ertd432e, Cst, castor, 2410019P08Rik
MMRRC Submission 038377-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0090 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 4
Chromosomal Location 148888886-149039346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149017868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 386 (T386A)
Ref Sequence ENSEMBL: ENSMUSP00000112978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094464] [ENSMUST00000122222] [ENSMUST00000139806] [ENSMUST00000147270]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000094464
AA Change: T386A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092035
Gene: ENSMUSG00000028977
AA Change: T386A

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 benign
Transcript: ENSMUST00000122222
AA Change: T386A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: T386A

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 benign
Transcript: ENSMUST00000139806
AA Change: T100A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120307
Gene: ENSMUSG00000028977
AA Change: T100A

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 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.7%
  • 20x: 91.4%
Validation Efficiency 99% (90/91)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
4933427I04Rik A G 4: 123,754,775 (GRCm39) T230A possibly damaging Het
Acsm1 T C 7: 119,261,412 (GRCm39) probably benign Het
Acta1 T C 8: 124,620,396 (GRCm39) N14S probably damaging Het
Aff4 A G 11: 53,283,609 (GRCm39) T362A probably benign Het
Aggf1 A G 13: 95,501,467 (GRCm39) I305T probably benign Het
Ap4b1 A G 3: 103,727,745 (GRCm39) D325G possibly damaging Het
Ap4e1 C T 2: 126,906,905 (GRCm39) T1055I possibly damaging Het
Arhgef2 A T 3: 88,546,655 (GRCm39) Q496L probably damaging Het
Arhgef28 A G 13: 98,211,618 (GRCm39) F122L probably damaging Het
Baiap3 G A 17: 25,469,044 (GRCm39) probably benign Het
Casp8ap2 T A 4: 32,640,327 (GRCm39) H460Q probably damaging Het
Cd53 A T 3: 106,674,725 (GRCm39) V114E possibly damaging Het
Celsr2 A G 3: 108,300,643 (GRCm39) probably benign Het
Cfap300 T A 9: 8,027,184 (GRCm39) N118I probably benign Het
Chaf1b G T 16: 93,684,012 (GRCm39) A88S possibly damaging Het
Cldn10 A T 14: 119,111,612 (GRCm39) Y194F probably damaging Het
Clec2e A C 6: 129,072,181 (GRCm39) probably null Het
Cmpk2 A T 12: 26,528,021 (GRCm39) T413S probably benign Het
Col9a1 T A 1: 24,262,643 (GRCm39) probably null Het
Dchs1 G T 7: 105,405,139 (GRCm39) Q2468K probably benign Het
Ddx60 A G 8: 62,395,327 (GRCm39) D88G probably damaging Het
Dnah8 A G 17: 31,003,064 (GRCm39) R3588G probably benign Het
Ect2 T C 3: 27,169,625 (GRCm39) T774A probably benign Het
Ect2 C T 3: 27,192,651 (GRCm39) E431K probably null Het
Ern1 A G 11: 106,296,649 (GRCm39) V767A probably damaging Het
Fbln1 A C 15: 85,108,489 (GRCm39) E75A possibly damaging Het
Fgf5 C T 5: 98,409,846 (GRCm39) R132* probably null Het
Folh1 T C 7: 86,375,076 (GRCm39) probably benign Het
Gdf15 A T 8: 71,082,334 (GRCm39) H257Q probably damaging Het
Ghitm T C 14: 36,844,176 (GRCm39) T322A probably benign Het
Gm5709 A G 3: 59,526,192 (GRCm39) noncoding transcript Het
Hbb-y C T 7: 103,501,950 (GRCm39) probably null Het
Hmcn2 A T 2: 31,316,210 (GRCm39) D3771V probably damaging Het
Hspa12a T C 19: 58,787,941 (GRCm39) D627G probably benign Het
Idh2 T C 7: 79,747,662 (GRCm39) E286G probably damaging Het
Idh3b C A 2: 130,122,899 (GRCm39) A297S probably benign Het
Igsf3 A G 3: 101,342,968 (GRCm39) E535G probably damaging Het
Ilf3 T A 9: 21,306,710 (GRCm39) D314E probably damaging Het
Itgb8 A G 12: 119,166,298 (GRCm39) S78P probably benign Het
Itih5 G A 2: 10,169,495 (GRCm39) V31I probably benign Het
Kcnj2 T C 11: 110,963,853 (GRCm39) V415A probably benign Het
Kin A G 2: 10,090,584 (GRCm39) Q53R possibly damaging Het
Krt78 A T 15: 101,856,272 (GRCm39) M513K probably benign Het
Krtap4-8 A T 11: 99,671,312 (GRCm39) probably benign Het
Ltbr T C 6: 125,286,412 (GRCm39) probably benign Het
Mgat4a G A 1: 37,529,414 (GRCm39) T146I probably damaging Het
Mrps2 G C 2: 28,358,268 (GRCm39) W19C probably damaging Het
Mthfs T C 9: 89,093,344 (GRCm39) S33P probably damaging Het
Myh6 T C 14: 55,196,161 (GRCm39) D546G probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ndst2 T C 14: 20,777,335 (GRCm39) T553A probably damaging Het
Nlrp12 T C 7: 3,288,664 (GRCm39) E616G probably damaging Het
Nrde2 T C 12: 100,095,545 (GRCm39) probably benign Het
Nup210l G A 3: 90,119,086 (GRCm39) V1832I probably benign Het
Or1e1c G A 11: 73,266,402 (GRCm39) V276I probably benign Het
Or4k77 A T 2: 111,199,639 (GRCm39) I221F probably damaging Het
Pcm1 A T 8: 41,709,078 (GRCm39) E9D probably damaging Het
Pear1 A T 3: 87,661,649 (GRCm39) D541E possibly damaging Het
Peg10 A G 6: 4,756,063 (GRCm39) probably benign Het
Prss1 G A 6: 41,438,166 (GRCm39) R31Q probably benign Het
Ptpn13 T C 5: 103,717,369 (GRCm39) V1837A probably damaging Het
Rasgrp3 A G 17: 75,805,456 (GRCm39) D149G probably damaging Het
Reg3d A T 6: 78,355,466 (GRCm39) H8Q possibly damaging Het
Rhox4f A C X: 36,789,122 (GRCm39) V15G probably benign Het
Sacs T A 14: 61,442,889 (GRCm39) L1645H probably damaging Het
Slc16a5 A T 11: 115,355,751 (GRCm39) S71C probably damaging Het
Slc9a3 A G 13: 74,306,847 (GRCm39) E324G probably damaging Het
Smgc T C 15: 91,743,960 (GRCm39) V574A possibly damaging Het
Stac3 C T 10: 127,339,799 (GRCm39) probably benign Het
Supv3l1 A G 10: 62,265,485 (GRCm39) L685P probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tas2r125 G T 6: 132,887,361 (GRCm39) A250S probably benign Het
Tdrd6 C T 17: 43,939,132 (GRCm39) V639I probably benign Het
Thap12 T G 7: 98,365,100 (GRCm39) W423G probably damaging Het
Tmem245 T C 4: 56,899,410 (GRCm39) I217V probably benign Het
Trip12 T A 1: 84,709,857 (GRCm39) probably benign Het
Tshz3 T C 7: 36,468,317 (GRCm39) V102A probably benign Het
Ubap1 T C 4: 41,379,826 (GRCm39) S347P probably damaging Het
Usp10 C T 8: 120,679,935 (GRCm39) Q612* probably null Het
Vmn2r72 T C 7: 85,404,084 (GRCm39) I36V probably benign Het
Vps37a T C 8: 40,980,030 (GRCm39) I63T possibly damaging Het
Whrn C A 4: 63,350,969 (GRCm39) R9L possibly damaging Het
Xrcc1 T C 7: 24,269,642 (GRCm39) Y401H probably damaging Het
Ylpm1 GCCTAAGCAGCAACCTAAG GCCTAAG 12: 85,075,814 (GRCm39) probably benign Het
Zfhx3 G A 8: 109,676,689 (GRCm39) D2580N possibly damaging Het
Zfhx4 A G 3: 5,308,685 (GRCm39) N637S probably damaging Het
Zfp268 A T 4: 145,349,195 (GRCm39) K211* probably null Het
Zyg11a A T 4: 108,058,544 (GRCm39) probably benign 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
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
R6479:Casz1 UTSW 4 149,021,535 (GRCm39) missense probably damaging 1.00
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'- TGCAGAATCTGGTAGCTCGTGC -3'
(R):5'- ACAGTGGAGACAGTTCCTGTGGTG -3'

Sequencing Primer
(F):5'- GGTAGCTCGTGCTTCCAAG -3'
(R):5'- CAGTTCCTGTGGTGATGGAGTC -3'
Posted On 2013-04-11