Incidental Mutation 'R4762:Casz1'
ID 356945
Institutional Source Beutler Lab
Gene Symbol Casz1
Ensembl Gene ENSMUSG00000028977
Gene Name castor zinc finger 1
Synonyms D4Ertd432e, Cst, castor, 2410019P08Rik
MMRRC Submission 042403-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4762 (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 149023438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 495 (L495P)
Ref Sequence ENSEMBL: ENSMUSP00000120307 (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: L781P

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092035
Gene: ENSMUSG00000028977
AA Change: L781P

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: L781P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: L781P

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: L495P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120307
Gene: ENSMUSG00000028977
AA Change: L495P

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 0.2252 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (86/86)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik T C 1: 158,797,126 (GRCm39) noncoding transcript Het
2310030G06Rik T C 9: 50,651,967 (GRCm39) E87G probably damaging Het
Aknad1 A T 3: 108,682,547 (GRCm39) H541L possibly damaging Het
Asb15 A G 6: 24,567,236 (GRCm39) E519G possibly damaging Het
Atad2 T C 15: 57,971,758 (GRCm39) D373G probably benign Het
Bbs12 G A 3: 37,374,529 (GRCm39) V326M probably damaging Het
Birc6 T C 17: 74,936,484 (GRCm39) I2617T probably damaging Het
Brca2 A G 5: 150,454,581 (GRCm39) T115A probably benign Het
Ccdc30 T A 4: 119,190,785 (GRCm39) I481F probably damaging Het
Cept1 A T 3: 106,446,677 (GRCm39) Y56* probably null Het
Cfap54 A C 10: 92,897,315 (GRCm39) probably null Het
Cyp2j8 G T 4: 96,358,886 (GRCm39) D344E probably damaging Het
Dido1 A T 2: 180,331,368 (GRCm39) W27R probably damaging Het
Disp3 A G 4: 148,356,575 (GRCm39) I95T probably damaging Het
Engase G T 11: 118,377,920 (GRCm39) V237F possibly damaging Het
Ephb6 G A 6: 41,595,094 (GRCm39) E703K probably damaging Het
Fnip1 T A 11: 54,356,997 (GRCm39) F35L probably damaging Het
Fnip1 A T 11: 54,390,352 (GRCm39) T440S probably benign Het
Fras1 T A 5: 96,879,477 (GRCm39) H2431Q probably benign Het
Fzd4 A T 7: 89,056,924 (GRCm39) T324S probably damaging Het
Gm10192 C G 4: 97,071,345 (GRCm39) S20T probably null Het
Gpr84 A T 15: 103,217,027 (GRCm39) V350E probably damaging Het
Gsto2 T C 19: 47,863,312 (GRCm39) Y63H probably damaging Het
Gtpbp6 T C 5: 110,252,186 (GRCm39) T449A probably damaging Het
Herc2 G A 7: 55,820,388 (GRCm39) V2876I probably benign Het
Hnrnpa3 A G 2: 75,492,351 (GRCm39) I152V possibly damaging Het
Hpse2 T C 19: 42,777,510 (GRCm39) D552G possibly damaging Het
Itfg1 A G 8: 86,459,070 (GRCm39) V460A possibly damaging Het
Jhy G A 9: 40,822,494 (GRCm39) A548V probably benign Het
Klhl21 T A 4: 152,094,268 (GRCm39) L290Q possibly damaging Het
Knl1 T C 2: 118,902,417 (GRCm39) S1373P probably benign Het
Kpna2 A C 11: 106,881,085 (GRCm39) M426R probably benign Het
Krt9 C T 11: 100,081,675 (GRCm39) V285I probably damaging Het
Lpar1 T G 4: 58,437,346 (GRCm39) H361P possibly damaging Het
Macf1 T C 4: 123,349,237 (GRCm39) T2100A probably benign Het
Mfsd13b T C 7: 120,590,549 (GRCm39) F97L probably damaging Het
Mmp15 A G 8: 96,098,958 (GRCm39) K595R probably benign Het
Mrps25 C T 6: 92,152,085 (GRCm39) G145D probably damaging Het
Muc4 T A 16: 32,574,916 (GRCm39) probably benign Het
Napa A T 7: 15,849,196 (GRCm39) K245N probably benign Het
Or10p1 C A 10: 129,444,043 (GRCm39) M102I probably damaging Het
Or14c39 A G 7: 86,344,329 (GRCm39) T222A probably benign Het
Or2y1c A T 11: 49,361,112 (GRCm39) I45F probably damaging Het
Or4g17 G A 2: 111,210,082 (GRCm39) V246M probably damaging Het
Or4k39 T A 2: 111,239,225 (GRCm39) noncoding transcript Het
Or5au1 T A 14: 52,272,921 (GRCm39) I216F possibly damaging Het
Or8c20 A G 9: 38,260,577 (GRCm39) Y60C probably damaging Het
Or8k35 A G 2: 86,424,381 (GRCm39) S264P possibly damaging Het
Papss2 A T 19: 32,616,378 (GRCm39) T195S probably benign Het
Parp4 T A 14: 56,848,267 (GRCm39) H694Q probably damaging Het
Patj C T 4: 98,293,807 (GRCm39) R20* probably null Het
Pcdhgb8 T A 18: 37,895,419 (GRCm39) V163E probably damaging Het
Pkd2l1 T A 19: 44,144,060 (GRCm39) T338S probably benign Het
Ppargc1b A T 18: 61,444,328 (GRCm39) S278R possibly damaging Het
Ppl T C 16: 4,906,846 (GRCm39) T1150A probably benign Het
Ralgds A G 2: 28,442,164 (GRCm39) D858G probably damaging Het
Rassf2 G A 2: 131,844,783 (GRCm39) probably benign Het
Ring1 T C 17: 34,240,971 (GRCm39) probably benign Het
Rusc1 A C 3: 88,998,949 (GRCm39) S278A probably benign Het
Samd9l T C 6: 3,375,623 (GRCm39) N546S probably benign Het
Sct A C 7: 140,858,954 (GRCm39) probably benign Het
Slc22a12 T G 19: 6,588,474 (GRCm39) H348P probably benign Het
Slc25a15 A G 8: 22,873,248 (GRCm39) S143P probably damaging Het
Slc26a11 C A 11: 119,247,657 (GRCm39) probably benign Het
Slc6a20b A G 9: 123,427,625 (GRCm39) M428T probably damaging Het
Smim17 G A 7: 6,432,321 (GRCm39) V88M probably damaging Het
Smoc1 G T 12: 81,214,425 (GRCm39) W269L probably damaging Het
Sox5 C T 6: 143,807,109 (GRCm39) probably null Het
Sp100 A G 1: 85,629,179 (GRCm39) *483W probably null Het
Sptbn5 T A 2: 119,907,703 (GRCm39) noncoding transcript Het
Sun5 G A 2: 153,707,283 (GRCm39) R132* probably null Het
Tedc2 A G 17: 24,435,354 (GRCm39) V345A probably benign Het
Tlr6 T A 5: 65,111,739 (GRCm39) R389S probably benign Het
Ttc17 G T 2: 94,202,113 (GRCm39) H396Q probably damaging Het
Ttn A G 2: 76,773,383 (GRCm39) S2340P probably damaging Het
Vmn1r219 C T 13: 23,346,999 (GRCm39) Q63* probably null Het
Vmn1r224 A G 17: 20,639,902 (GRCm39) T160A possibly damaging Het
Vmn2r11 T C 5: 109,195,436 (GRCm39) N630S probably damaging Het
Zfp1005 T A 2: 150,109,549 (GRCm39) C80S possibly damaging Het
Zfp747 A G 7: 126,973,498 (GRCm39) V224A possibly damaging Het
Zfp804b T C 5: 6,822,250 (GRCm39) N271S 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
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
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'- ATGACCTCGTGGACTTCTCTG -3'
(R):5'- TCTCAATGATGGAGGCAGGG -3'

Sequencing Primer
(F):5'- GTGGACTTCTCTGCCCTGAG -3'
(R):5'- GCTCTGGAAGCCATCAGG -3'
Posted On 2015-11-11