Incidental Mutation 'R7719:Casz1'
ID 595104
Institutional Source Beutler Lab
Gene Symbol Casz1
Ensembl Gene ENSMUSG00000028977
Gene Name castor zinc finger 1
Synonyms D4Ertd432e, Cst, castor, 2410019P08Rik
MMRRC Submission 045776-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7719 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 148888886-149039346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 149028981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 1142 (S1142L)
Ref Sequence ENSEMBL: ENSMUSP00000092035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094464] [ENSMUST00000122222] [ENSMUST00000139806]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000094464
AA Change: S1142L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092035
Gene: ENSMUSG00000028977
AA Change: S1142L

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: S1142L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: S1142L

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
SMART Domains Protein: ENSMUSP00000120307
Gene: ENSMUSG00000028977

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (67/68)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 T A 1: 155,562,758 (GRCm39) L253H probably damaging Het
Adam11 T C 11: 102,663,303 (GRCm39) V238A probably benign Het
Amer3 A T 1: 34,628,083 (GRCm39) H774L possibly damaging Het
Anapc15 T C 7: 101,550,236 (GRCm39) L150P unknown Het
Ano8 G T 8: 71,935,784 (GRCm39) T278K possibly damaging Het
Atg16l2 T C 7: 100,939,074 (GRCm39) K618E probably damaging Het
Ccdc30 T A 4: 119,190,813 (GRCm39) E471D probably damaging Het
Cks1b T C 3: 89,323,635 (GRCm39) N45D probably benign Het
Clasrp T C 7: 19,321,769 (GRCm39) T296A probably damaging Het
Cluap1 C T 16: 3,727,467 (GRCm39) probably null Het
Cntn5 T A 9: 9,704,903 (GRCm39) D632V probably damaging Het
Cntnap3 G A 13: 64,920,591 (GRCm39) Q593* probably null Het
Col18a1 A T 10: 76,913,846 (GRCm39) I457K probably benign Het
Crybb3 G T 5: 113,223,834 (GRCm39) Q192K probably damaging Het
Cyb561d2 C T 9: 107,417,383 (GRCm39) A123T probably benign Het
Cyp2b13 C T 7: 25,795,095 (GRCm39) A442V probably damaging Het
Cyp2j9 G A 4: 96,457,079 (GRCm39) T464I probably benign Het
Cyp4a29 G A 4: 115,108,137 (GRCm39) G320R possibly damaging Het
Dbp T C 7: 45,359,174 (GRCm39) I283T probably damaging Het
Efcab3 T C 11: 105,002,674 (GRCm39) I303T probably benign Het
Efcab8 T A 2: 153,629,665 (GRCm39) V166D Het
Efhc1 A T 1: 21,049,744 (GRCm39) I535F probably benign Het
Epb41l3 A G 17: 69,560,409 (GRCm39) I319V possibly damaging Het
Ewsr1 T C 11: 5,035,900 (GRCm39) T193A unknown Het
Fam227a T C 15: 79,504,913 (GRCm39) N510S possibly damaging Het
Frmpd1 T C 4: 45,284,841 (GRCm39) C1221R possibly damaging Het
Gm6741 A C 17: 91,544,472 (GRCm39) E78D probably benign Het
Gpam C T 19: 55,070,102 (GRCm39) V385I probably damaging Het
Gpr55 A G 1: 85,869,059 (GRCm39) V174A probably benign Het
Gsdmc T C 15: 63,650,813 (GRCm39) probably null Het
Hmcn1 T A 1: 150,441,080 (GRCm39) D5509V possibly damaging Het
Hoxc13 A T 15: 102,830,293 (GRCm39) Q224L possibly damaging Het
Hunk A G 16: 90,293,554 (GRCm39) D612G probably benign Het
Igsf3 G A 3: 101,342,857 (GRCm39) R478H probably damaging Het
Itgb5 A G 16: 33,740,486 (GRCm39) Q532R probably benign Het
Jph1 T C 1: 17,162,215 (GRCm39) Y149C probably damaging Het
Lztfl1 T C 9: 123,544,395 (GRCm39) D33G probably null Het
Mex3c G T 18: 73,723,061 (GRCm39) A385S possibly damaging Het
Myo5a T A 9: 75,051,366 (GRCm39) S320T probably benign Het
Nsun4 A T 4: 115,909,617 (GRCm39) N314K possibly damaging Het
Omg T A 11: 79,393,059 (GRCm39) E266D probably benign Het
Or4b12 A T 2: 90,096,603 (GRCm39) M57K probably damaging Het
Paqr9 T A 9: 95,442,829 (GRCm39) V273E possibly damaging Het
Phkg1 G A 5: 129,902,699 (GRCm39) probably benign Het
Plekhm3 T C 1: 64,960,901 (GRCm39) K452E probably benign Het
Plpbp T A 8: 27,535,974 (GRCm39) I86N Het
Prl2c1 G T 13: 28,035,780 (GRCm39) A51S probably damaging Het
Prmt8 A T 6: 127,706,466 (GRCm39) H108Q probably damaging Het
Prrc2b T A 2: 32,107,280 (GRCm39) C1614* probably null Het
Ptpdc1 A G 13: 48,739,766 (GRCm39) V555A probably benign Het
Rassf9 A G 10: 102,381,461 (GRCm39) D281G probably benign Het
Resf1 T C 6: 149,228,853 (GRCm39) I633T probably benign Het
Rmnd1 T C 10: 4,377,496 (GRCm39) D61G probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Ryr2 A G 13: 11,745,229 (GRCm39) S2055P possibly damaging Het
Six5 G A 7: 18,830,803 (GRCm39) A477T probably damaging Het
Speg A G 1: 75,352,469 (GRCm39) E129G probably damaging Het
Stard10 C T 7: 100,995,320 (GRCm39) A78V not run Het
Stard3 T C 11: 98,266,502 (GRCm39) V127A probably benign Het
Svep1 G A 4: 58,068,523 (GRCm39) P3088S probably damaging Het
Tbck A G 3: 132,440,489 (GRCm39) D508G probably damaging Het
Tgm2 T A 2: 157,985,038 (GRCm39) T23S probably damaging Het
Ttll10 G T 4: 156,131,665 (GRCm39) probably null Het
Vcan A T 13: 89,852,738 (GRCm39) S741T probably damaging Het
Vmn2r13 T C 5: 109,319,618 (GRCm39) N454S probably benign Het
Vmn2r45 T A 7: 8,486,460 (GRCm39) E276V probably damaging Het
Wnt8a T C 18: 34,680,588 (GRCm39) W318R probably damaging Het
Zer1 A T 2: 30,001,243 (GRCm39) L87H probably damaging Het
Zfp518a T A 19: 40,901,212 (GRCm39) N380K probably benign Het
Zfp90 T C 8: 107,145,725 (GRCm39) V19A probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P 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
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
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'- CTGAGACCAAACCTCCCTTG -3'
(R):5'- TGGAAAACTAAGTCCCAGAGGC -3'

Sequencing Primer
(F):5'- AAACCTCCCTTGGCACCCTC -3'
(R):5'- TGAGGGCAGCCAGTGTAACTC -3'
Posted On 2019-11-12