Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02871:Casz1'

362580

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02871

Quality Score

Status

Chromosome

Chromosomal Location

148888886-149039346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 149028776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 1074 (S1074A)

Ref Sequence

ENSEMBL: ENSMUSP00000092035 (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: S1074A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000092035
Gene: ENSMUSG00000028977
AA Change: S1074A

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

possibly damaging
Transcript: ENSMUST00000122222
AA Change: S1074A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: S1074A

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

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

Coding Region Coverage

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	C	A	13: 114,291,374 (GRCm39)	H179Q	probably benign	Het
Bin3	T	A	14: 70,366,354 (GRCm39)	C72*	probably null	Het
Brca2	C	T	5: 150,466,017 (GRCm39)	T1927I	probably benign	Het
Cap2	A	G	13: 46,678,968 (GRCm39)	D26G	probably benign	Het
Chd5	C	T	4: 152,461,142 (GRCm39)	P1244L	probably damaging	Het
Exosc9	A	G	3: 36,619,430 (GRCm39)	N408S	probably benign	Het
Ezr	G	A	17: 7,009,789 (GRCm39)	Q352*	probably null	Het
Fbxl4	T	A	4: 22,386,213 (GRCm39)	D273E	probably benign	Het
Gm3269	A	T	14: 16,028,154 (GRCm39)	N193I	probably damaging	Het
Haus8	A	T	8: 71,709,138 (GRCm39)	M90K	probably benign	Het
Igkv5-39	A	T	6: 69,877,490 (GRCm39)	S89T	probably benign	Het
Nlrp4b	A	C	7: 10,449,192 (GRCm39)	D465A	probably benign	Het
Nsf	A	G	11: 103,752,882 (GRCm39)		probably benign	Het
Nt5c1b	G	A	12: 10,431,325 (GRCm39)	M409I	probably damaging	Het
Or4a75	T	C	2: 89,448,504 (GRCm39)	I11V	probably benign	Het
Or4c103	T	A	2: 88,513,428 (GRCm39)	Y216F	probably damaging	Het
Or5ac17	T	A	16: 59,036,737 (GRCm39)	K80*	probably null	Het
Pga5	T	C	19: 10,649,144 (GRCm39)		probably benign	Het
Pigk	T	A	3: 152,472,153 (GRCm39)	I355K	probably damaging	Het
Prom1	T	C	5: 44,187,018 (GRCm39)	Y404C	probably damaging	Het
Ptprs	T	C	17: 56,754,443 (GRCm39)	E199G	probably damaging	Het
Sec24c	T	C	14: 20,742,950 (GRCm39)	S935P	probably benign	Het
Slc22a13	T	C	9: 119,025,077 (GRCm39)	T200A	probably benign	Het
Svep1	T	A	4: 58,100,871 (GRCm39)	I1264L	probably benign	Het
Tcf7l2	T	A	19: 55,907,429 (GRCm39)	C349S	probably damaging	Het
Thbs2	T	C	17: 14,906,048 (GRCm39)	H284R	probably benign	Het
Vmn2r19	C	T	6: 123,313,042 (GRCm39)	S704L	probably damaging	Het
Vmn2r50	A	G	7: 9,781,714 (GRCm39)	Y344H	possibly 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
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
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

Posted On

2015-12-18