Incidental Mutation 'R0597:Casz1'
ID 55110
Institutional Source Beutler Lab
Gene Symbol Casz1
Ensembl Gene ENSMUSG00000028977
Gene Name castor zinc finger 1
Synonyms D4Ertd432e, Cst, castor, 2410019P08Rik
MMRRC Submission 038786-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0597 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 148888886-149039346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149028851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1099 (S1099P)
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 benign
Transcript: ENSMUST00000094464
AA Change: S1099P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000092035
Gene: ENSMUSG00000028977
AA Change: S1099P

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: S1099P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: S1099P

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 noncoding transcript
Transcript: ENSMUST00000123548
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
Meta Mutation Damage Score 0.0605 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.0%
  • 10x: 97.4%
  • 20x: 94.1%
Validation Efficiency 97% (71/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,352,631 (GRCm39) probably null Het
Anxa11 T C 14: 25,874,652 (GRCm39) I221T probably damaging Het
Arhgap33 C G 7: 30,225,871 (GRCm39) R565P probably damaging Het
Bmpr2 T C 1: 59,880,584 (GRCm39) probably benign Het
Btn2a2 T A 13: 23,670,580 (GRCm39) H51L probably benign Het
Cnot4 A G 6: 35,028,438 (GRCm39) S393P possibly damaging Het
Cntnap5a T C 1: 116,112,191 (GRCm39) probably benign Het
Cobl T C 11: 12,204,699 (GRCm39) T586A probably benign Het
Crocc T C 4: 140,747,224 (GRCm39) K1528R probably benign Het
Crocc A G 4: 140,744,382 (GRCm39) L1838P probably benign Het
Dact2 A G 17: 14,417,303 (GRCm39) V299A probably benign Het
Dapk1 C A 13: 60,909,198 (GRCm39) N1270K probably benign Het
Ddx41 T C 13: 55,680,819 (GRCm39) Y375C probably damaging Het
Dock5 T A 14: 68,022,383 (GRCm39) probably null Het
Dyrk4 T G 6: 126,863,612 (GRCm39) probably null Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fam210b A G 2: 172,187,773 (GRCm39) probably benign Het
Fbxl13 A G 5: 21,819,712 (GRCm39) I229T probably benign Het
Fbxo39 A G 11: 72,207,747 (GRCm39) D33G probably damaging Het
Fbxw11 A G 11: 32,670,496 (GRCm39) E120G probably damaging Het
Fbxw2 A T 2: 34,701,032 (GRCm39) L261Q probably damaging Het
Gm5800 A C 14: 51,953,461 (GRCm39) N51K probably benign Het
Gm6899 A G 11: 26,543,768 (GRCm39) probably benign Het
Gpx8 T C 13: 113,182,035 (GRCm39) T133A possibly damaging Het
Grin3a C T 4: 49,665,351 (GRCm39) V1095M probably damaging Het
Grip2 T C 6: 91,773,178 (GRCm39) probably benign Het
Hacd4 A G 4: 88,355,757 (GRCm39) F43L probably damaging Het
Hif1a T G 12: 73,989,049 (GRCm39) S645R probably benign Het
Hipk3 A G 2: 104,263,982 (GRCm39) S839P possibly damaging Het
Idi2l C A 13: 8,990,802 (GRCm39) probably benign Het
Il16 A T 7: 83,327,183 (GRCm39) probably benign Het
Il3ra T A 14: 14,351,166 (GRCm38) probably null Het
Il5ra A G 6: 106,721,296 (GRCm39) M1T probably null Het
Klra2 G A 6: 131,197,148 (GRCm39) R251C probably benign Het
Lamc2 C T 1: 153,009,367 (GRCm39) V813M probably benign Het
Lbr A G 1: 181,659,778 (GRCm39) V139A probably benign Het
Lrp5 T C 19: 3,650,777 (GRCm39) D1219G possibly damaging Het
Map3k6 C T 4: 132,972,863 (GRCm39) P341S possibly damaging Het
Mcts2 A G 2: 152,529,609 (GRCm39) E140G probably benign Het
Med1 T C 11: 98,060,264 (GRCm39) M222V probably benign Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Muc19 A T 15: 91,784,696 (GRCm39) noncoding transcript Het
Nr1h2 A G 7: 44,201,684 (GRCm39) probably benign Het
Or13j1 A T 4: 43,706,592 (GRCm39) probably null Het
Or2w6 C A 13: 21,843,316 (GRCm39) R59L probably damaging Het
Or56a42-ps1 A G 7: 104,777,425 (GRCm39) V73A possibly damaging Het
Or5ac23 A T 16: 59,149,123 (GRCm39) F250I probably damaging Het
P4hb G A 11: 120,459,070 (GRCm39) T141I possibly damaging Het
Polr3a A G 14: 24,534,202 (GRCm39) V101A probably benign Het
Pou4f2 A G 8: 79,161,869 (GRCm39) S245P probably benign Het
Pramel26 G T 4: 143,539,222 (GRCm39) N90K probably damaging Het
Rnpep A G 1: 135,200,157 (GRCm39) V266A probably damaging Het
Scly G A 1: 91,237,555 (GRCm39) G206R probably damaging Het
Sec14l3 A T 11: 4,024,814 (GRCm39) K254N probably damaging Het
Sgpp1 A T 12: 75,781,874 (GRCm39) I155N probably damaging Het
Slc22a14 A G 9: 119,001,190 (GRCm39) L468P probably damaging Het
Slc22a27 A G 19: 7,843,249 (GRCm39) F377L probably benign Het
Slc44a3 T C 3: 121,253,719 (GRCm39) I625V probably benign Het
Slc47a2 A T 11: 61,200,802 (GRCm39) I373N probably damaging Het
Slfn10-ps A T 11: 82,926,479 (GRCm39) noncoding transcript Het
Smarcd1 T A 15: 99,608,975 (GRCm39) I383N probably damaging Het
Sort1 A G 3: 108,246,226 (GRCm39) D401G probably damaging Het
Sprr2a3 G T 3: 92,195,897 (GRCm39) M1I probably null Het
Sycp2 A C 2: 177,998,373 (GRCm39) V1049G possibly damaging Het
Tecrl T A 5: 83,502,775 (GRCm39) K10* probably null Het
Tnpo3 A T 6: 29,578,564 (GRCm39) C303* probably null Het
Vmn2r23 A G 6: 123,706,680 (GRCm39) I503M probably benign Het
Zbtb8os T A 4: 129,240,670 (GRCm39) I164N probably damaging Het
Zfp292 T C 4: 34,807,399 (GRCm39) N1882D probably benign Het
Zfp91 T C 19: 12,747,459 (GRCm39) I555V possibly 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
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'- CCACACTTCATGCTAAGCTCCACTG -3'
(R):5'- CACTTGTCCTGGAACTGGAGGAAC -3'

Sequencing Primer
(F):5'- GCTAAGCTCCACTGTAATAGGGTC -3'
(R):5'- CCGGGTTTGACCTGAGG -3'
Posted On 2013-07-11