Incidental Mutation 'R6139:Casz1'
| ID |
488476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casz1
|
| Ensembl Gene |
ENSMUSG00000028977 |
| Gene Name |
castor zinc finger 1 |
| Synonyms |
D4Ertd432e, Cst, castor, 2410019P08Rik |
| MMRRC Submission |
044286-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6139 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
148888886-149039346 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 149036154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1472
(T1472M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122222]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122222
AA Change: T1472M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: T1472M
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.1576 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
G |
11: 117,697,150 (GRCm39) |
T250A |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,350,713 (GRCm39) |
I1074T |
probably damaging |
Het |
| Acsl6 |
C |
A |
11: 54,231,368 (GRCm39) |
P462T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,842 (GRCm39) |
D747G |
probably damaging |
Het |
| Antxr2 |
A |
C |
5: 98,125,565 (GRCm39) |
|
probably null |
Het |
| Arhgap35 |
T |
C |
7: 16,297,392 (GRCm39) |
T558A |
possibly damaging |
Het |
| Asap1 |
T |
A |
15: 64,038,388 (GRCm39) |
I223F |
possibly damaging |
Het |
| C2cd5 |
A |
C |
6: 142,980,784 (GRCm39) |
D669E |
probably damaging |
Het |
| Catsper4 |
A |
G |
4: 133,945,177 (GRCm39) |
L154P |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,829,025 (GRCm39) |
E293G |
probably benign |
Het |
| Cma1 |
T |
A |
14: 56,180,157 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
C |
T |
11: 106,130,843 (GRCm39) |
A439V |
probably damaging |
Het |
| Disp2 |
T |
A |
2: 118,621,143 (GRCm39) |
L625Q |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,007,984 (GRCm39) |
D2141G |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,376,382 (GRCm39) |
I1389T |
probably damaging |
Het |
| Fam81a |
A |
T |
9: 70,010,100 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,821,388 (GRCm39) |
D5707G |
possibly damaging |
Het |
| Gcnt4 |
G |
A |
13: 97,083,360 (GRCm39) |
V219I |
probably benign |
Het |
| Gk2 |
A |
G |
5: 97,604,139 (GRCm39) |
V233A |
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,622,075 (GRCm39) |
|
probably benign |
Het |
| Gsap |
T |
A |
5: 21,486,538 (GRCm39) |
V649D |
probably damaging |
Het |
| Kif1b |
G |
A |
4: 149,321,989 (GRCm39) |
H977Y |
possibly damaging |
Het |
| Ktn1 |
T |
A |
14: 47,963,672 (GRCm39) |
|
probably null |
Het |
| Lgals12 |
T |
A |
19: 7,581,742 (GRCm39) |
T29S |
probably benign |
Het |
| Me3 |
G |
T |
7: 89,282,108 (GRCm39) |
|
probably benign |
Het |
| Mgst3 |
T |
G |
1: 167,205,874 (GRCm39) |
K35T |
possibly damaging |
Het |
| Mtmr9 |
T |
C |
14: 63,767,227 (GRCm39) |
R354G |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,033,738 (GRCm39) |
E1059G |
probably damaging |
Het |
| Nr4a2 |
T |
A |
2: 56,998,701 (GRCm39) |
H408L |
probably damaging |
Het |
| Or56b35 |
A |
T |
7: 104,963,453 (GRCm39) |
T81S |
probably damaging |
Het |
| Or5ak23 |
A |
T |
2: 85,244,690 (GRCm39) |
F178I |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,724,242 (GRCm39) |
L1275Q |
possibly damaging |
Het |
| Pfkfb4 |
A |
G |
9: 108,856,825 (GRCm39) |
Y412C |
probably damaging |
Het |
| Pop1 |
T |
A |
15: 34,529,204 (GRCm39) |
C745S |
probably benign |
Het |
| Ptpn14 |
T |
G |
1: 189,583,362 (GRCm39) |
S736R |
probably benign |
Het |
| Rdh9 |
A |
T |
10: 127,612,606 (GRCm39) |
T85S |
possibly damaging |
Het |
| Rnf223 |
T |
C |
4: 156,217,260 (GRCm39) |
C212R |
probably damaging |
Het |
| Rnf39 |
A |
G |
17: 37,254,230 (GRCm39) |
E84G |
probably damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,533,375 (GRCm39) |
V584D |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,834,231 (GRCm39) |
S728T |
probably damaging |
Het |
| Slc16a12 |
T |
A |
19: 34,648,295 (GRCm39) |
|
probably null |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| St7 |
T |
C |
6: 17,694,353 (GRCm39) |
L48P |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,379,572 (GRCm39) |
N951D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,682,413 (GRCm39) |
R959* |
probably null |
Het |
| Ugt2b36 |
A |
T |
5: 87,240,030 (GRCm39) |
D118E |
probably benign |
Het |
| Vmn2r7 |
G |
A |
3: 64,623,339 (GRCm39) |
T327I |
probably damaging |
Het |
| Wdr70 |
T |
C |
15: 8,108,735 (GRCm39) |
D137G |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,843,360 (GRCm39) |
M14K |
probably damaging |
Het |
| Xpot |
T |
A |
10: 121,447,613 (GRCm39) |
E283V |
probably benign |
Het |
|
| Other mutations in Casz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- CTAGGGAACACCATCTCCATGC -3'
(R):5'- TGCTGTCTGTGCAACGGAAG -3'
Sequencing Primer
(F):5'- TGGATCATCGAGGACATGTCTCC -3'
(R):5'- TGCAACGGAAGCGGCAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation