Incidental Mutation 'H8562:Casz1'
ID 44329
Institutional Source Beutler Lab
Gene Symbol Casz1
Ensembl Gene ENSMUSG00000028977
Gene Name castor zinc finger 1
Synonyms D4Ertd432e, Cst, castor, 2410019P08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # H8562 (G3) of strain 604
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 148888886-149039346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149017908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 113 (L113P)
Ref Sequence ENSEMBL: ENSMUSP00000120307 (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: L399P

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000092035
Gene: ENSMUSG00000028977
AA Change: L399P

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 possibly damaging
Transcript: ENSMUST00000122222
AA Change: L399P

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: L399P

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 damaging
Transcript: ENSMUST00000139806
AA Change: L113P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120307
Gene: ENSMUSG00000028977
AA Change: L113P

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 96% (109/114)
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,771,717 (GRCm39) C400R probably damaging Het
4930519F16Rik A T X: 102,299,463 (GRCm39) noncoding transcript Het
5430402E10Rik G T X: 76,966,340 (GRCm39) H117Q probably damaging Het
Abca15 T C 7: 119,974,077 (GRCm39) probably benign Het
Abca8a A G 11: 109,933,835 (GRCm39) I1190T probably benign Het
Acmsd T C 1: 127,676,795 (GRCm39) Y107H probably benign Het
Adcy5 A G 16: 35,087,551 (GRCm39) I471V probably damaging Het
Aff2 G A X: 68,892,532 (GRCm39) A939T unknown Het
Ampd2 C A 3: 107,988,427 (GRCm39) A11S probably benign Het
Aoah T A 13: 21,000,694 (GRCm39) C43S probably damaging Het
Apobec4 T C 1: 152,632,925 (GRCm39) S318P probably damaging Het
Arid2 C T 15: 96,267,427 (GRCm39) P636S possibly damaging Het
Atp13a3 A T 16: 30,178,543 (GRCm39) C164* probably null Het
Avl9 G A 6: 56,734,295 (GRCm39) A625T probably damaging Het
Bco1 G T 8: 117,832,386 (GRCm39) probably benign Het
Brd3 C T 2: 27,340,545 (GRCm39) G555S possibly damaging Het
Brd4 A T 17: 32,448,377 (GRCm39) probably benign Het
Btbd7 A G 12: 102,754,561 (GRCm39) V735A probably benign Het
C2cd2 G T 16: 97,680,840 (GRCm39) Q325K possibly damaging Het
Carmil1 A G 13: 24,248,630 (GRCm39) V485A probably benign Het
Ccdc3 T C 2: 5,143,016 (GRCm39) L91S probably damaging Het
Cd180 A G 13: 102,841,926 (GRCm39) K324R probably benign Het
Cd200r4 A G 16: 44,653,736 (GRCm39) T132A possibly damaging Het
Cops7a A G 6: 124,939,416 (GRCm39) probably benign Het
Cyp2c29 A T 19: 39,298,106 (GRCm39) N217I probably damaging Het
Dapk1 C A 13: 60,909,126 (GRCm39) H1246Q probably damaging Het
Dmbt1 T A 7: 130,713,805 (GRCm39) C1450* probably null Het
Dnah10 T A 5: 124,906,593 (GRCm39) M4151K probably damaging Het
Dnai1 C A 4: 41,629,833 (GRCm39) F452L possibly damaging Het
Dync1h1 T C 12: 110,583,241 (GRCm39) M446T probably benign Het
Dytn A C 1: 63,714,071 (GRCm39) S143A possibly damaging Het
E130308A19Rik T A 4: 59,691,033 (GRCm39) L289Q possibly damaging Het
Efemp2 G T 19: 5,530,677 (GRCm39) V250L probably benign Het
Elmo1 T C 13: 20,465,033 (GRCm39) S201P probably damaging Het
Fam222b T A 11: 78,045,404 (GRCm39) C194S probably damaging Het
Fam91a1 G A 15: 58,298,970 (GRCm39) probably null Het
Fcf1 T A 12: 85,027,386 (GRCm39) probably benign Het
Fnip1 T A 11: 54,371,123 (GRCm39) F134L probably damaging Het
Fyn T C 10: 39,387,950 (GRCm39) S69P probably benign Het
Gabbr1 T C 17: 37,382,841 (GRCm39) Y845H probably damaging Het
Gfra2 C T 14: 71,215,818 (GRCm39) T169M possibly damaging Het
Gm5435 T C 12: 82,542,449 (GRCm39) noncoding transcript Het
Gm7251 A G 13: 49,959,148 (GRCm39) Y94H probably damaging Het
Gvin3 A G 7: 106,202,356 (GRCm39) F296S probably damaging Het
H2bc15 T C 13: 21,938,648 (GRCm39) V119A probably benign Het
Heatr1 T A 13: 12,423,594 (GRCm39) N530K probably benign Het
Icam5 A T 9: 20,946,442 (GRCm39) E355V probably benign Het
Ighv3-6 A G 12: 114,252,158 (GRCm39) probably benign Het
Intu T C 3: 40,647,103 (GRCm39) S659P probably damaging Het
Ivns1abp T C 1: 151,230,446 (GRCm39) V198A probably damaging Het
Katnb1 T A 8: 95,822,138 (GRCm39) probably benign Het
Kcna5 T C 6: 126,510,386 (GRCm39) S581G probably damaging Het
Kif23 A G 9: 61,831,347 (GRCm39) V741A probably benign Het
Lbr A T 1: 181,648,233 (GRCm39) probably benign Het
Loxhd1 A C 18: 77,429,627 (GRCm39) T508P possibly damaging Het
Lrrk2 T A 15: 91,557,561 (GRCm39) N26K probably benign Het
Ly96 A T 1: 16,761,918 (GRCm39) K41N probably damaging Het
Lypd1 C T 1: 125,838,274 (GRCm39) probably benign Het
Macf1 A G 4: 123,359,833 (GRCm39) V1817A probably benign Het
Mknk2 A G 10: 80,504,768 (GRCm39) probably benign Het
Mmp19 A T 10: 128,631,470 (GRCm39) I117L probably benign Het
Mmrn1 G A 6: 60,935,164 (GRCm39) G220D probably damaging Het
Mtrr T C 13: 68,712,496 (GRCm39) H630R probably damaging Het
Nfat5 T C 8: 108,066,014 (GRCm39) probably benign Het
Ngef C A 1: 87,415,529 (GRCm39) K288N possibly damaging Het
Nkain4 T C 2: 180,584,938 (GRCm39) E71G probably benign Het
Odc1 T C 12: 17,598,038 (GRCm39) Y122H probably benign Het
Or1e25 T C 11: 73,494,273 (GRCm39) I289T probably damaging Het
Or2d2 C A 7: 106,728,448 (GRCm39) A51S probably benign Het
Or8g51 C A 9: 38,609,206 (GRCm39) G156V probably damaging Het
Osbpl3 A T 6: 50,324,446 (GRCm39) N190K probably benign Het
Osgepl1 T C 1: 53,354,198 (GRCm39) V54A probably damaging Het
Otogl T C 10: 107,746,817 (GRCm39) Y19C probably benign Het
Pop1 T C 15: 34,530,358 (GRCm39) S919P probably benign Het
Pramel21 T A 4: 143,341,920 (GRCm39) probably benign Het
Prl8a9 A G 13: 27,746,584 (GRCm39) probably benign Het
Prr14l A T 5: 32,951,072 (GRCm39) V1907D probably damaging Het
Ptprn T C 1: 75,231,264 (GRCm39) T547A possibly damaging Het
Rdh14 G T 12: 10,444,709 (GRCm39) V187F probably damaging Het
Rev1 A G 1: 38,095,848 (GRCm39) L853P probably damaging Het
Robo4 T C 9: 37,317,106 (GRCm39) probably benign Het
Ryr2 A G 13: 11,732,027 (GRCm39) probably benign Het
Sec16a G A 2: 26,331,517 (GRCm39) P166L probably benign Het
Slc6a19 G A 13: 73,848,243 (GRCm39) probably benign Het
Slco4c1 T A 1: 96,770,210 (GRCm39) T285S probably benign Het
Speg G T 1: 75,392,241 (GRCm39) A1633S probably benign Het
Srpk1 T A 17: 28,821,707 (GRCm39) T236S probably benign Het
Stxbp5 T C 10: 9,645,187 (GRCm39) N262S probably benign Het
Suco T C 1: 161,680,420 (GRCm39) E317G probably damaging Het
Syk A G 13: 52,794,657 (GRCm39) N441D probably damaging Het
Syt17 T C 7: 118,007,292 (GRCm39) K334R probably benign Het
Sytl5 A T X: 9,826,335 (GRCm39) H436L probably benign Het
Tasor2 A T 13: 3,627,000 (GRCm39) S983R probably damaging Het
Thada A G 17: 84,753,972 (GRCm39) L333P probably damaging Het
Thap12 T C 7: 98,364,314 (GRCm39) Y161H probably damaging Het
Thbs2 C T 17: 14,891,715 (GRCm39) V941I probably benign Het
Tktl1 A T X: 73,225,470 (GRCm39) E72V probably damaging Het
Tm4sf5 T A 11: 70,396,338 (GRCm39) probably benign Het
Urb1 T A 16: 90,566,357 (GRCm39) M1477L probably benign Het
Vcp T A 4: 42,982,596 (GRCm39) I699F probably damaging Het
Vmn1r232 T C 17: 21,133,656 (GRCm39) T315A probably benign Het
Vmn2r100 T A 17: 19,741,752 (GRCm39) W155R possibly damaging Het
Vmn2r19 T C 6: 123,292,861 (GRCm39) I301T possibly damaging Het
Wwc2 A G 8: 48,373,701 (GRCm39) V55A possibly damaging Het
Xirp2 A G 2: 67,345,801 (GRCm39) T2681A probably benign Het
Zfp39 C A 11: 58,791,512 (GRCm39) L58F probably damaging Het
Zfp612 T C 8: 110,816,670 (GRCm39) F587L probably damaging Het
Zfp810 T C 9: 22,190,387 (GRCm39) R174G probably benign Het
Zfta A G 19: 7,400,286 (GRCm39) K251E 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
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
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'- AGGCCCCAGAATGGAAGCACTTAC -3'
(R):5'- GGCAAGCTTTGCAGGTTTATCCAG -3'

Sequencing Primer
(F):5'- TCCAAGTATGACCTGGAGAATGTC -3'
(R):5'- GTTTATCCAGCCCGGCCC -3'
Posted On 2013-06-11