Mutagenetix > Incidental Mutation

Incidental Mutation 'R4019:Casz1'

312677

Institutional Source

Beutler Lab

Gene Symbol

Casz1

Ensembl Gene

ENSMUSG00000028977

Gene Name

castor zinc finger 1

Synonyms

D4Ertd432e, Cst, castor, 2410019P08Rik

MMRRC Submission

040953-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4019 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148888886-149039346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 149017335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 208 (P208L)

Ref Sequence

ENSEMBL: ENSMUSP00000112978 (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: P208L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092035
Gene: ENSMUSG00000028977
AA Change: P208L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000122222
AA Change: P208L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: P208L

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

probably benign
Transcript: ENSMUST00000139806

SMART Domains

Protein: ENSMUSP00000120307
Gene: ENSMUSG00000028977

Domain	Start	End	E-Value	Type
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
AA Change: P208L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	T	C	9: 106,313,978 (GRCm39)	T61A	possibly damaging	Het
Ap4e1	C	T	2: 126,903,846 (GRCm39)	S916F	probably benign	Het
Brpf1	G	A	6: 113,287,243 (GRCm39)	R157Q	probably damaging	Het
Canx	A	T	11: 50,190,072 (GRCm39)	S429T	probably damaging	Het
Ctnnd1	C	T	2: 84,450,302 (GRCm39)	R306H	probably damaging	Het
Dip2c	T	C	13: 9,664,401 (GRCm39)	V909A	probably damaging	Het
Epg5	C	A	18: 78,073,665 (GRCm39)	Q2511K	probably damaging	Het
Ghitm	G	A	14: 36,852,651 (GRCm39)	A143V	probably damaging	Het
Gramd2b	T	C	18: 56,612,026 (GRCm39)		probably null	Het
Ifitm3	T	C	7: 140,589,772 (GRCm39)	T94A	possibly damaging	Het
Ift81	G	A	5: 122,731,192 (GRCm39)	T321M	probably benign	Het
Ikbkb	C	T	8: 23,161,728 (GRCm39)	V387I	probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lpar5	A	G	6: 125,058,638 (GRCm39)	N120D	probably damaging	Het
Lrrc37	A	G	11: 103,506,119 (GRCm39)	S1950P	probably benign	Het
Lrrtm2	T	C	18: 35,345,923 (GRCm39)	I460V	possibly damaging	Het
Naip5	T	C	13: 100,359,883 (GRCm39)	E451G	probably benign	Het
Naip5	T	C	13: 100,359,902 (GRCm39)	I445V	probably benign	Het
Nbas	A	G	12: 13,532,520 (GRCm39)	R1743G	probably damaging	Het
Nherf4	A	T	9: 44,162,117 (GRCm39)		probably null	Het
Notch1	T	C	2: 26,371,154 (GRCm39)	T311A	probably benign	Het
Oplah	A	G	15: 76,181,476 (GRCm39)	Y1155H	probably damaging	Het
Or4c15	A	G	2: 88,760,080 (GRCm39)	I193T	probably benign	Het
Or52k2	T	C	7: 102,253,849 (GRCm39)	F96S	probably damaging	Het
Pcnx1	C	T	12: 81,965,018 (GRCm39)	T395I	probably damaging	Het
Pdgfb	A	C	15: 79,885,923 (GRCm39)	V108G	probably damaging	Het
Prpf40b	T	C	15: 99,214,357 (GRCm39)	S846P	probably benign	Het
Ptprc	T	A	1: 138,006,254 (GRCm39)	H752L	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Scn3a	A	G	2: 65,356,295 (GRCm39)		probably benign	Het
Sco1	T	G	11: 66,954,846 (GRCm39)	S284A	probably benign	Het
Slc25a10	T	A	11: 120,388,265 (GRCm39)	M227K	probably damaging	Het
Sox8	A	G	17: 25,789,271 (GRCm39)	Y76H	probably damaging	Het
Spdya	A	C	17: 71,863,309 (GRCm39)	K19N	possibly damaging	Het
Syngap1	C	T	17: 27,171,315 (GRCm39)		probably benign	Het
Sytl3	T	C	17: 7,003,892 (GRCm39)	S326P	probably damaging	Het
Tbl3	A	G	17: 24,923,695 (GRCm39)	V239A	probably damaging	Het
Tenm2	T	C	11: 35,937,901 (GRCm39)	I1592V	probably benign	Het
Vmn2r109	T	A	17: 20,774,074 (GRCm39)	D427V	probably benign	Het
Vmn2r115	A	G	17: 23,579,017 (GRCm39)	K830R	probably damaging	Het
Vmn2r45	A	T	7: 8,474,580 (GRCm39)	L816*	probably null	Het
Zfp335	C	T	2: 164,743,380 (GRCm39)	R536H	probably damaging	Het
Zfp777	T	A	6: 48,019,046 (GRCm39)	Q296L	probably damaging	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
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'- TCAAGGTAGAGGGGCTTCTC -3'
(R):5'- TTCTGCATCTGGACACTGC -3'

Sequencing Primer
(F):5'- GGGGCTTCTCCTCTTCCTC -3'
(R):5'- GGTAAGGGACCCACCACCTC -3'

Posted On

2015-04-30