Incidental Mutation 'R8301:Casz1'
ID 639248
Institutional Source Beutler Lab
Gene Symbol Casz1
Ensembl Gene ENSMUSG00000028977
Gene Name castor zinc finger 1
Synonyms D4Ertd432e, Cst, castor, 2410019P08Rik
MMRRC Submission 067789-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8301 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 148888886-149039346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149030500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1173 (D1173G)
Ref Sequence ENSEMBL: ENSMUSP00000112978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094464] [ENSMUST00000122222]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000094464
SMART Domains Protein: ENSMUSP00000092035
Gene: ENSMUSG00000028977

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: D1173G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: D1173G

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
Meta Mutation Damage Score 0.1644 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,120,364 (GRCm39) I374F probably benign Het
Ak9 G A 10: 41,300,712 (GRCm39) V1108I Het
Aldh16a1 C T 7: 44,791,406 (GRCm39) A790T possibly damaging Het
Anks1 A T 17: 28,278,554 (GRCm39) probably benign Het
Antxr2 T G 5: 98,125,538 (GRCm39) T240P probably benign Het
Arfgef1 A T 1: 10,250,058 (GRCm39) M945K probably damaging Het
Arhgef17 T C 7: 100,528,866 (GRCm39) T1591A probably benign Het
Aurka A G 2: 172,198,850 (GRCm39) S374P probably damaging Het
Bccip T C 7: 133,320,933 (GRCm39) S236P probably benign Het
Cacna1s T A 1: 136,001,179 (GRCm39) probably benign Het
Calm1 A G 12: 100,171,944 (GRCm39) E132G probably benign Het
Cdh17 A G 4: 11,795,659 (GRCm39) D413G probably damaging Het
Cfap57 A G 4: 118,450,271 (GRCm39) I617T possibly damaging Het
Creb5 A G 6: 53,658,018 (GRCm39) D116G possibly damaging Het
Csnka2ip A C 16: 64,299,354 (GRCm39) S337A unknown Het
Ddx60 A G 8: 62,453,631 (GRCm39) E1250G probably benign Het
Dlgap2 T A 8: 14,873,577 (GRCm39) S727T probably benign Het
Dpy19l1 T C 9: 24,396,407 (GRCm39) probably benign Het
Ebf2 A G 14: 67,476,431 (GRCm39) T134A possibly damaging Het
Echdc2 A T 4: 108,030,106 (GRCm39) M136L probably benign Het
Enpp2 A G 15: 54,714,803 (GRCm39) F598S probably benign Het
Extl3 A C 14: 65,313,733 (GRCm39) L483R probably damaging Het
Gcat T C 15: 78,920,089 (GRCm39) V227A possibly damaging Het
Hsf2 A G 10: 57,381,442 (GRCm39) D344G probably damaging Het
Ighm C T 12: 113,385,165 (GRCm39) G265D Het
Igsf9b T G 9: 27,246,035 (GRCm39) probably benign Het
Ints6 A G 14: 62,939,902 (GRCm39) V596A probably benign Het
Ints8 T C 4: 11,246,120 (GRCm39) E182G probably damaging Het
Iqgap2 A G 13: 95,818,659 (GRCm39) probably null Het
Kalrn G T 16: 34,177,470 (GRCm39) Q250K probably benign Het
Lrrc1 T A 9: 77,451,770 (GRCm39) N46Y probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naa50 A G 16: 43,977,494 (GRCm39) N74S probably benign Het
Neb T C 2: 52,178,847 (GRCm39) N1303S probably benign Het
Nfs1 A T 2: 155,976,413 (GRCm39) C160* probably null Het
Or11g7 T A 14: 50,691,021 (GRCm39) S171T probably benign Het
Or52s1b T G 7: 102,822,280 (GRCm39) K188T probably damaging Het
Or5p52 A G 7: 107,502,833 (GRCm39) K303R probably benign Het
Or6c76 T C 10: 129,612,709 (GRCm39) S309P probably benign Het
Orm2 T C 4: 63,281,263 (GRCm39) F67S possibly damaging Het
Pex5 A G 6: 124,382,142 (GRCm39) S180P probably benign Het
Phf14 G C 6: 11,992,061 (GRCm39) G746R probably damaging Het
Pkm T A 9: 59,575,914 (GRCm39) V110E probably damaging Het
Plekha6 T G 1: 133,192,425 (GRCm39) N78K probably damaging Het
Plxna2 G A 1: 194,472,483 (GRCm39) V1076I probably benign Het
Polq C A 16: 36,882,181 (GRCm39) D1448E probably damaging Het
Pot1b T C 17: 55,994,895 (GRCm39) T256A probably benign Het
Prkch C T 12: 73,749,538 (GRCm39) T377I possibly damaging Het
Prl3c1 A C 13: 27,383,168 (GRCm39) probably benign Het
Prl7b1 A C 13: 27,786,755 (GRCm39) V158G possibly damaging Het
Prss22 T C 17: 24,212,955 (GRCm39) S261G probably damaging Het
Psd T C 19: 46,309,541 (GRCm39) probably benign Het
Psg18 A T 7: 18,087,302 (GRCm39) Y119N probably damaging Het
Rbm6 T G 9: 107,729,993 (GRCm39) R218S probably damaging Het
Rnf213 T A 11: 119,325,568 (GRCm39) S1491T Het
Rsf1 T C 7: 97,311,132 (GRCm39) S621P Het
Runx1 C A 16: 92,402,544 (GRCm39) *466L probably null Het
Samd4 A G 14: 47,254,135 (GRCm39) I200V probably benign Het
Sdsl C T 5: 120,597,584 (GRCm39) C241Y probably benign Het
Selenon T C 4: 134,278,725 (GRCm39) probably benign Het
Setx C T 2: 29,035,702 (GRCm39) P729L possibly damaging Het
Sf1 C T 19: 6,418,396 (GRCm39) Q55* probably null Het
Slc12a5 A T 2: 164,835,611 (GRCm39) N833I probably damaging Het
Slc1a4 T C 11: 20,282,286 (GRCm39) R63G probably damaging Het
Tmeff2 G T 1: 51,220,996 (GRCm39) A324S probably benign Het
Tmem217 A G 17: 29,745,466 (GRCm39) I88T possibly damaging Het
Tnfsf8 A T 4: 63,779,115 (GRCm39) I61N probably benign Het
Tpbgl G T 7: 99,274,774 (GRCm39) A361E probably damaging Het
Trhde T A 10: 114,322,911 (GRCm39) E667V probably benign Het
Unc13b A G 4: 43,263,568 (GRCm39) T1598A probably benign Het
Vmn2r73 A T 7: 85,507,510 (GRCm39) C601S probably benign Het
Zfp873 C A 10: 81,896,713 (GRCm39) H481Q 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
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
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'- ATGTTCCCGTTGAGCAGGAG -3'
(R):5'- TCTCTGCCAGGAGAAGCTTG -3'

Sequencing Primer
(F):5'- CCGTTGAGCAGGAGGGTGAC -3'
(R):5'- TCACTGACCTGGTTGGGACAC -3'
Posted On 2020-07-28