Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02137:Casz1'

281372

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 #

IGL02137

Quality Score

Status

Chromosome

Chromosomal Location

148888886-149039346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 149017925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 405 (A405S)

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: A405S

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092035
Gene: ENSMUSG00000028977
AA Change: A405S

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: A405S

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: A405S

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
AA Change: A119S

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120307
Gene: ENSMUSG00000028977
AA Change: A119S

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	T	C	X: 80,501,262 (GRCm39)	D116G	probably benign	Het
Acp2	G	T	2: 91,034,028 (GRCm39)	G66V	probably damaging	Het
Adam32	C	T	8: 25,362,610 (GRCm39)	G605D	probably damaging	Het
Adam4	T	C	12: 81,467,877 (GRCm39)	D248G	possibly damaging	Het
Adamts15	C	A	9: 30,821,956 (GRCm39)	G494W	probably damaging	Het
Arfgef1	A	T	1: 10,283,338 (GRCm39)	N190K	probably damaging	Het
Bach2	C	T	4: 32,501,621 (GRCm39)		probably benign	Het
Bloc1s1	T	C	10: 128,758,517 (GRCm39)		probably benign	Het
Cplx4	T	C	18: 66,090,125 (GRCm39)	D98G	probably benign	Het
Dync2h1	T	C	9: 7,134,349 (GRCm39)	N1553D	probably benign	Het
Erich5	G	A	15: 34,470,900 (GRCm39)	C43Y	probably damaging	Het
Exosc10	A	C	4: 148,645,590 (GRCm39)	R123S	probably damaging	Het
Hoatz	T	C	9: 50,997,408 (GRCm39)		probably benign	Het
Inpp5f	T	C	7: 128,296,853 (GRCm39)	V377A	probably damaging	Het
Lrp1b	T	C	2: 40,620,700 (GRCm39)		probably benign	Het
Mrps17	G	A	5: 129,793,847 (GRCm39)	V14M	probably benign	Het
Mtrr	G	A	13: 68,716,920 (GRCm39)	S431F	possibly damaging	Het
Myo5a	T	C	9: 75,068,817 (GRCm39)		probably null	Het
Nsfl1c	T	A	2: 151,351,509 (GRCm39)	I291N	probably damaging	Het
Ntsr1	T	A	2: 180,180,628 (GRCm39)		probably null	Het
Or4n4	T	C	14: 50,519,135 (GRCm39)	T192A	probably benign	Het
Park7	T	C	4: 150,988,288 (GRCm39)	I102M	probably benign	Het
Pik3c2a	T	A	7: 115,950,039 (GRCm39)	Q1326L	probably benign	Het
Rapgef3	T	C	15: 97,648,025 (GRCm39)	D693G	probably benign	Het
Rep15	G	A	6: 146,934,845 (GRCm39)	R228H	probably benign	Het
Slc25a1	A	G	16: 17,745,234 (GRCm39)	V100A	probably benign	Het
Slc9a4	T	C	1: 40,640,059 (GRCm39)	F284L	possibly damaging	Het
Sox10	G	T	15: 79,043,393 (GRCm39)	D52E	probably benign	Het
St3gal5	C	A	6: 72,105,266 (GRCm39)	T6N	probably benign	Het
Tbc1d22a	A	G	15: 86,183,870 (GRCm39)	D243G	probably benign	Het
Tll1	T	C	8: 64,469,132 (GRCm39)	Y997C	possibly damaging	Het
Tmem8b	A	T	4: 43,689,434 (GRCm39)	H276L	probably benign	Het
Tnpo3	T	C	6: 29,609,450 (GRCm39)	Y12C	probably damaging	Het
Tns3	A	T	11: 8,442,578 (GRCm39)	M595K	possibly damaging	Het
Trav18	T	A	14: 54,069,192 (GRCm39)	M78K	probably benign	Het
Uba7	A	G	9: 107,856,952 (GRCm39)		probably benign	Het
Vmn1r167	A	T	7: 23,204,864 (GRCm39)	S51T	probably damaging	Het
Vmn1r83	A	T	7: 12,055,761 (GRCm39)	Y99N	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	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
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
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

2015-04-16