Incidental Mutation 'R5929:Casz1'
ID 460081
Institutional Source Beutler Lab
Gene Symbol Casz1
Ensembl Gene ENSMUSG00000028977
Gene Name castor zinc finger 1
Synonyms D4Ertd432e, Cst, castor, 2410019P08Rik
MMRRC Submission 044124-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5929 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 148888886-149039346 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 149023426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 491 (L491Q)
Ref Sequence ENSEMBL: ENSMUSP00000120307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094464] [ENSMUST00000122222] [ENSMUST00000139806]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000094464
AA Change: L777Q

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092035
Gene: ENSMUSG00000028977
AA Change: L777Q

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: L777Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: L777Q

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: L491Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120307
Gene: ENSMUSG00000028977
AA Change: L491Q

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 0.2564 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency 99% (84/85)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang4 C T 14: 52,001,708 (GRCm39) C80Y probably damaging Het
Ankib1 T C 5: 3,819,633 (GRCm39) I95M possibly damaging Het
Ankrd1 T C 19: 36,095,277 (GRCm39) E137G possibly damaging Het
Car6 T C 4: 150,280,592 (GRCm39) H84R probably damaging Het
Casd1 T A 6: 4,629,993 (GRCm39) L463Q probably damaging Het
Catsperd A T 17: 56,959,493 (GRCm39) H311L probably benign Het
Ccdc83 A G 7: 89,885,524 (GRCm39) probably benign Het
Cd163 G A 6: 124,303,568 (GRCm39) probably null Het
Cd244a A T 1: 171,386,935 (GRCm39) R15W probably damaging Het
Ces3b A G 8: 105,819,797 (GRCm39) K490R probably damaging Het
Chordc1 T C 9: 18,215,658 (GRCm39) S137P possibly damaging Het
Col4a1 T A 8: 11,266,788 (GRCm39) T1140S probably benign Het
Col6a4 T C 9: 105,940,243 (GRCm39) E1229G probably benign Het
Cr2 A G 1: 194,853,419 (GRCm39) S20P possibly damaging Het
Dcaf13 T A 15: 39,007,048 (GRCm39) H327Q possibly damaging Het
Depdc5 G T 5: 33,132,850 (GRCm39) E646* probably null Het
Dnah5 G A 15: 28,311,353 (GRCm39) M1777I probably benign Het
Dnah5 G T 15: 28,311,354 (GRCm39) A1778S probably damaging Het
Dnajc5b T C 3: 19,601,019 (GRCm39) Y39H probably damaging Het
Dsp A T 13: 38,379,410 (GRCm39) I1453F possibly damaging Het
Fyn T A 10: 39,427,457 (GRCm39) W447R probably damaging Het
Gabra6 T A 11: 42,208,389 (GRCm39) M148L probably damaging Het
Gcfc2 T A 6: 81,923,580 (GRCm39) V32D probably damaging Het
Ginm1 G T 10: 7,649,814 (GRCm39) L160I probably benign Het
Gm19345 A G 7: 19,591,747 (GRCm39) Y221H probably damaging Het
Gpr155 G A 2: 73,204,011 (GRCm39) R268* probably null Het
Hacl1 T A 14: 31,338,345 (GRCm39) M411L probably benign Het
Hdac3 C T 18: 38,074,394 (GRCm39) probably benign Het
Hmcn1 C A 1: 150,453,047 (GRCm39) E5423* probably null Het
Ipo4 T C 14: 55,868,646 (GRCm39) H454R probably benign Het
Itpr1 A T 6: 108,400,297 (GRCm39) I1693F probably benign Het
Kif12 T C 4: 63,086,754 (GRCm39) T361A probably damaging Het
Kif21b A G 1: 136,078,945 (GRCm39) E431G probably damaging Het
Kif27 C T 13: 58,491,784 (GRCm39) A452T probably benign Het
Kifbp A T 10: 62,395,181 (GRCm39) I487N probably damaging Het
Lhcgr A T 17: 89,050,436 (GRCm39) Y363* probably null Het
Lrrc8d A T 5: 105,960,472 (GRCm39) K294I probably damaging Het
Mapk3 A C 7: 126,359,030 (GRCm39) probably benign Het
Mogat1 A T 1: 78,500,370 (GRCm39) I145F probably benign Het
Mtmr7 T C 8: 41,011,399 (GRCm39) probably null Het
Ndufaf6 T C 4: 11,051,150 (GRCm39) N317D probably benign Het
Nfe2l1 G T 11: 96,718,185 (GRCm39) Q117K probably damaging Het
Odad3 T C 9: 21,913,718 (GRCm39) E18G possibly damaging Het
Olfm3 T G 3: 114,895,529 (GRCm39) I137S probably damaging Het
Or4f7d-ps1 T A 2: 111,674,631 (GRCm39) noncoding transcript Het
Otub1 G A 19: 7,177,350 (GRCm39) S99F probably damaging Het
Padi2 T G 4: 140,671,848 (GRCm39) probably null Het
Paip1 C T 13: 119,582,326 (GRCm39) T268I probably damaging Het
Pak1ip1 T C 13: 41,158,276 (GRCm39) S50P probably benign Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Phkb A G 8: 86,697,543 (GRCm39) I451V probably benign Het
Plcg1 T A 2: 160,595,522 (GRCm39) probably null Het
Prg4 A G 1: 150,329,880 (GRCm39) F722S probably benign Het
Prss3 T C 6: 41,353,738 (GRCm39) probably null Het
Psmd3 C T 11: 98,586,422 (GRCm39) P530L probably damaging Het
Rims1 A T 1: 22,507,322 (GRCm39) D609E probably damaging Het
Sema3f T C 9: 107,569,392 (GRCm39) Y82C probably damaging Het
Shoc1 G T 4: 59,092,497 (GRCm39) S228* probably null Het
Slc35b2 G T 17: 45,877,587 (GRCm39) W238L probably benign Het
Sox12 T C 2: 152,239,308 (GRCm39) Y104C probably damaging Het
Stx5a T G 19: 8,719,675 (GRCm39) D13E probably damaging Het
Tlr7 C A X: 166,089,878 (GRCm39) G536V probably damaging Het
Tspan12 A G 6: 21,772,746 (GRCm39) S220P possibly damaging Het
Utp11 T C 4: 124,576,036 (GRCm39) T173A probably damaging Het
Wrnip1 G C 13: 32,990,949 (GRCm39) D403H probably damaging Het
Xpnpep1 T C 19: 53,001,920 (GRCm39) T109A probably damaging Het
Zfp354b A T 11: 50,813,282 (GRCm39) F548I probably damaging Het
Zup1 A T 10: 33,825,043 (GRCm39) Y146* 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
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 4 149,023,153 (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'- GATGACCTCGTGGACTTCTC -3'
(R):5'- TTCTCTCAATGATGGAGGCAGG -3'

Sequencing Primer
(F):5'- GTGGACTTCTCTGCCCTGAG -3'
(R):5'- GCTCTGGAAGCCATCAGG -3'
Posted On 2017-02-28