Incidental Mutation 'R1476:Casz1'
ID 164051
Institutional Source Beutler Lab
Gene Symbol Casz1
Ensembl Gene ENSMUSG00000028977
Gene Name castor zinc finger 1
Synonyms D4Ertd432e, Cst, castor, 2410019P08Rik
MMRRC Submission 039529-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1476 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 148888886-149039346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 149030628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 1216 (V1216L)
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 benign
Transcript: ENSMUST00000122222
AA Change: V1216L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: V1216L

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
Meta Mutation Damage Score 0.1029 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 95% (80/84)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,528 (GRCm39) probably benign Het
A730015C16Rik G A 4: 108,705,205 (GRCm39) V40M probably damaging Het
Abcg2 A G 6: 58,655,322 (GRCm39) D419G probably benign Het
Adamts17 A C 7: 66,725,091 (GRCm39) E777A probably damaging Het
Ak1 A G 2: 32,523,478 (GRCm39) K166R probably benign Het
Ankrd12 T C 17: 66,293,300 (GRCm39) K711R probably damaging Het
Ate1 A T 7: 130,020,301 (GRCm39) probably null Het
Atp5f1a A G 18: 77,869,625 (GRCm39) H519R probably benign Het
Best1 G T 19: 9,967,853 (GRCm39) Y284* probably null Het
C2cd6 A G 1: 59,115,887 (GRCm39) probably benign Het
Cdc42bpg A G 19: 6,363,812 (GRCm39) D493G probably damaging Het
Ces2f A G 8: 105,679,134 (GRCm39) D317G possibly damaging Het
Chst15 A T 7: 131,872,002 (GRCm39) M93K possibly damaging Het
Cntnap5a T C 1: 115,828,750 (GRCm39) L58P probably damaging Het
Crip3 T C 17: 46,741,702 (GRCm39) probably benign Het
Csmd2 G A 4: 128,380,794 (GRCm39) E2117K probably benign Het
Cstf3 A G 2: 104,478,564 (GRCm39) D212G possibly damaging Het
Cttnbp2 T C 6: 18,434,220 (GRCm39) K546R probably damaging Het
Cubn A G 2: 13,480,931 (GRCm39) I308T probably benign Het
Cxcl9 T A 5: 92,472,972 (GRCm39) D75V probably damaging Het
Dcdc5 C T 2: 106,188,977 (GRCm39) noncoding transcript Het
Defa30 C A 8: 21,624,752 (GRCm39) T25K possibly damaging Het
Dock7 A T 4: 98,967,672 (GRCm39) H239Q possibly damaging Het
Dpp4 A G 2: 62,178,245 (GRCm39) V629A possibly damaging Het
Fam83a T C 15: 57,873,341 (GRCm39) M390T probably benign Het
Fem1c A G 18: 46,657,552 (GRCm39) L54P probably damaging Het
Fntb T A 12: 76,957,007 (GRCm39) M282K probably benign Het
Galnt2l A G 8: 122,996,323 (GRCm39) probably benign Het
Gm11099 G A 2: 58,749,482 (GRCm39) probably benign Het
Gm1527 T C 3: 28,980,705 (GRCm39) S602P probably benign Het
Gm5478 T A 15: 101,553,080 (GRCm39) I331F probably damaging Het
Gm7853 C A 14: 35,811,540 (GRCm39) noncoding transcript Het
Gsta2 A T 9: 78,249,147 (GRCm39) C18S probably benign Het
H1f8 T C 6: 115,924,701 (GRCm39) V69A possibly damaging Het
Hecw1 T C 13: 14,480,671 (GRCm39) E465G probably damaging Het
Herc1 A G 9: 66,415,548 (GRCm39) D4841G probably damaging Het
Hus1b A G 13: 31,130,984 (GRCm39) V225A probably benign Het
Keg1 A T 19: 12,693,387 (GRCm39) M137L probably benign Het
Kmt2a C T 9: 44,735,932 (GRCm39) probably benign Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mga T A 2: 119,772,156 (GRCm39) V1672E probably damaging Het
Mios T C 6: 8,234,237 (GRCm39) S803P probably benign Het
Mrtfa T C 15: 80,902,409 (GRCm39) probably benign Het
Msh4 A T 3: 153,569,021 (GRCm39) Y851N probably damaging Het
Mybl1 A C 1: 9,742,886 (GRCm39) probably null Het
Myo5c A G 9: 75,183,221 (GRCm39) Y865C probably damaging Het
Naip1 T C 13: 100,563,378 (GRCm39) S596G probably benign Het
Nek5 G T 8: 22,586,747 (GRCm39) Q355K possibly damaging Het
Nphp3 G T 9: 103,903,126 (GRCm39) R701L possibly damaging Het
Or52n2 A T 7: 104,542,444 (GRCm39) Y130* probably null Het
Or5j3 T C 2: 86,128,823 (GRCm39) I221T probably damaging Het
Or5m10 T A 2: 85,717,592 (GRCm39) Y149* probably null Het
Or5t9 T C 2: 86,659,542 (GRCm39) S149P probably benign Het
Or9g4 T A 2: 85,505,262 (GRCm39) T78S possibly damaging Het
Palm A G 10: 79,651,021 (GRCm39) N149D possibly damaging Het
Pot1b T C 17: 55,960,451 (GRCm39) I626M possibly damaging Het
Ptprt T A 2: 161,769,404 (GRCm39) D487V probably damaging Het
Qpct A G 17: 79,378,201 (GRCm39) I124V probably benign Het
Rbm12b1 T A 4: 12,145,817 (GRCm39) D596E possibly damaging Het
Rnf157 A G 11: 116,245,585 (GRCm39) C277R probably damaging Het
Rnf169 A G 7: 99,574,535 (GRCm39) S687P possibly damaging Het
Sfxn1 T A 13: 54,246,469 (GRCm39) probably null Het
Slc6a21 T C 7: 44,922,052 (GRCm39) V649A probably benign Het
Slit3 A T 11: 35,577,126 (GRCm39) T1120S probably damaging Het
Spem2 A T 11: 69,708,896 (GRCm39) M58K probably benign Het
Sprr2k T A 3: 92,340,703 (GRCm39) probably benign Het
Sspo T C 6: 48,440,334 (GRCm39) probably null Het
Sv2b A T 7: 74,769,791 (GRCm39) F584I possibly damaging Het
Tkfc A T 19: 10,572,690 (GRCm39) M317K probably null Het
Tnni3k C T 3: 154,735,942 (GRCm39) G134S probably benign Het
Ttn C T 2: 76,570,124 (GRCm39) R26923H probably damaging Het
Tuba3b T C 6: 145,564,179 (GRCm39) V75A possibly damaging Het
Unc79 T C 12: 103,149,784 (GRCm39) L2626P probably damaging Het
Usp24 A T 4: 106,219,130 (GRCm39) I491F probably damaging Het
V1ra8 A T 6: 90,180,132 (GRCm39) I112F probably damaging Het
Vmn1r29 T G 6: 58,284,663 (GRCm39) F128V probably benign Het
Wdr87-ps A G 7: 29,234,315 (GRCm39) noncoding transcript Het
Zfp157 T A 5: 138,453,357 (GRCm39) probably null 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
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'- TGACTGAGGAGGGAACCCTAACAC -3'
(R):5'- TGACAGCCCTCACCAATTGAGC -3'

Sequencing Primer
(F):5'- TGGGATGCCAATGACCTTC -3'
(R):5'- TCACCAATTGAGCATCAGTCTG -3'
Posted On 2014-03-28