Mutagenetix > Incidental Mutations

Incidental Mutation 'R1764:Casz1'

193267

Institutional Source

Beutler Lab

Gene Symbol

Casz1

Ensembl Gene

ENSMUSG00000028977

Gene Name

castor zinc finger 1

Synonyms

D4Ertd432e, 2410019P08Rik, Cst, castor

MMRRC Submission

039796-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1764 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

148804429-148954889 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 148942900 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094464] [ENSMUST00000122222] [ENSMUST00000139806]

Predicted Effect

probably benign
Transcript: ENSMUST00000094464

SMART Domains

Protein: ENSMUSP00000092035
Gene: ENSMUSG00000028977

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

SMART Domains

Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.2%

Validation Efficiency

94% (94/100)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	T	5: 5,478,943	I24N	possibly damaging	Het
4930522L14Rik	A	G	5: 109,736,789	V401A	probably benign	Het
5830411N06Rik	A	G	7: 140,297,265	E831G	probably benign	Het
9930021J03Rik	T	A	19: 29,719,160	T978S	possibly damaging	Het
Abca7	G	T	10: 80,008,950	W1502L	probably damaging	Het
Adcy7	A	G	8: 88,308,840	E124G	probably benign	Het
Aif1l	G	A	2: 31,965,106	E66K	probably benign	Het
Aldh8a1	A	T	10: 21,395,493	M373L	probably benign	Het
Alg6	T	C	4: 99,741,578	Y131H	probably benign	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Arrdc4	A	T	7: 68,741,874	I215K	probably damaging	Het
Asb4	A	G	6: 5,390,798		probably null	Het
Astn1	T	C	1: 158,504,251	I305T	probably benign	Het
Atp5b	T	A	10: 128,084,080		probably benign	Het
Atp8a1	C	A	5: 67,631,567	M1044I	probably benign	Het
Atp9b	C	T	18: 80,909,591		probably null	Het
Btaf1	A	G	19: 36,951,118	H113R	probably benign	Het
C87436	G	T	6: 86,453,612	C338F	possibly damaging	Het
Cbr3	T	A	16: 93,690,482	H184Q	probably damaging	Het
Cct8l1	T	C	5: 25,517,099	S271P	possibly damaging	Het
Cdc34	A	G	10: 79,685,340	K77R	probably benign	Het
Cdc34	G	T	10: 79,685,338		probably null	Het
Cdh20	A	G	1: 104,934,345		probably benign	Het
Celsr3	A	G	9: 108,828,958	E880G	probably damaging	Het
Cers1	T	G	8: 70,321,491		probably null	Het
Cntn5	T	C	9: 9,673,983	I705V	probably benign	Het
Dennd4c	T	A	4: 86,803,010	D636E	probably damaging	Het
Dnah11	T	C	12: 118,190,825	E240G	probably benign	Het
Dnah2	T	C	11: 69,423,543	Y4100C	probably damaging	Het
Dpysl3	T	C	18: 43,363,518	E151G	probably damaging	Het
Efcab9	T	G	11: 32,524,457	T9P	possibly damaging	Het
Eif4g2	A	T	7: 111,074,487	F725Y	probably damaging	Het
Epha6	T	A	16: 59,775,728	I867F	probably null	Het
Erbin	T	C	13: 103,843,451		probably benign	Het
Evi5l	A	G	8: 4,203,560	E468G	probably damaging	Het
Filip1l	C	T	16: 57,570,038	R330W	probably damaging	Het
Fmo3	C	T	1: 162,958,573	V283M	possibly damaging	Het
Gabarapl1	A	T	6: 129,533,518	K24N	possibly damaging	Het
Gigyf1	C	T	5: 137,522,508		probably benign	Het
Gm13089	C	A	4: 143,698,270	C201F	probably benign	Het
Gm5581	T	A	6: 131,181,399		noncoding transcript	Het
Gon4l	G	T	3: 88,892,599	K850N	probably damaging	Het
Igf2bp3	C	T	6: 49,109,046	R233H	probably damaging	Het
Iqcf4	G	A	9: 106,568,694	R85C	probably benign	Het
Kalrn	C	T	16: 34,212,873	R473Q	probably damaging	Het
Lmod2	T	A	6: 24,603,377	V117E	probably damaging	Het
Mapk11	A	G	15: 89,144,391		probably null	Het
Mcm3	G	A	1: 20,805,879	R664C	probably damaging	Het
Mex3d	A	G	10: 80,386,936	M162T	probably benign	Het
Mrgprb3	A	G	7: 48,643,023	I260T	probably benign	Het
Ncor2	G	T	5: 125,028,615	A1637D	possibly damaging	Het
Nedd4	T	A	9: 72,730,907	D441E	probably damaging	Het
Nek5	A	T	8: 22,109,912	C194S	probably damaging	Het
Nos1ap	T	C	1: 170,318,878	D369G	possibly damaging	Het
Ntrk1	G	T	3: 87,780,084	T681K	probably damaging	Het
Olfr1306	A	G	2: 111,912,181	F250L	possibly damaging	Het
Olfr538	T	C	7: 140,574,470	W106R	probably damaging	Het
Otogl	C	T	10: 107,899,461	W154*	probably null	Het
Pcdh20	T	C	14: 88,469,184	T227A	possibly damaging	Het
Pcdhb17	T	C	18: 37,487,271	S705P	probably damaging	Het
Piezo2	T	C	18: 63,124,642	H335R	possibly damaging	Het
Pkn2	T	C	3: 142,793,854	Q954R	probably damaging	Het
Prkcq	G	A	2: 11,232,631	V74M	probably damaging	Het
Prkrip1	A	T	5: 136,189,635		probably null	Het
Rb1cc1	A	G	1: 6,214,680		probably benign	Het
Rbm5	A	T	9: 107,767,564	Y11*	probably null	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Ryr3	C	A	2: 112,860,460	V1082L	probably damaging	Het
Sel1l3	C	A	5: 53,170,447	E497*	probably null	Het
Serpina6	A	T	12: 103,653,923	I189N	probably damaging	Het
Serpinb11	A	T	1: 107,376,802	T166S	probably benign	Het
Skint7	T	C	4: 111,982,073	L188S	probably benign	Het
Slc25a45	C	T	19: 5,884,930	A269V	probably damaging	Het
Sltm	A	G	9: 70,561,800	T114A	probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Spen	C	A	4: 141,472,950	V2766L	probably damaging	Het
Srgap2	T	A	1: 131,319,537	I445F	possibly damaging	Het
Stox2	A	T	8: 47,194,016	Y200*	probably null	Het
Strada	C	A	11: 106,164,184	R384L	probably damaging	Het
Tctn2	G	A	5: 124,619,031		noncoding transcript	Het
Tgfbr3l	G	T	8: 4,249,282	R461L	probably benign	Het
Tmem65	A	G	15: 58,790,149		probably benign	Het
Tpst1	G	T	5: 130,114,502	V294F	possibly damaging	Het
Trim23	A	G	13: 104,198,618	Y384C	probably damaging	Het
Ube3b	C	G	5: 114,404,617	L512V	possibly damaging	Het
Ubxn4	T	A	1: 128,256,179	V92E	probably damaging	Het
Vmn2r57	A	T	7: 41,400,643	C561S	probably damaging	Het
Vwa8	A	G	14: 78,908,195	D104G	probably damaging	Het
Wdr25	T	A	12: 109,026,438	L73*	probably null	Het
Wnt9a	G	A	11: 59,330,902	A209T	probably benign	Het
Zcchc17	A	C	4: 130,329,595	C133G	probably damaging	Het
Zdhhc18	T	A	4: 133,608,676	M375L	probably benign	Het
Zfhx3	T	C	8: 108,951,644	F3109L	probably benign	Het
Zfp202	T	A	9: 40,210,466	D286E	probably benign	Het
Zzef1	T	C	11: 72,893,332	L2021P	probably benign	Het

Other mutations in Casz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00914:Casz1	APN	4	148929371	missense	probably damaging	1.00
IGL02137:Casz1	APN	4	148933468	missense	possibly damaging	0.71
IGL02176:Casz1	APN	4	148934619	missense	probably damaging	1.00
IGL02629:Casz1	APN	4	148944391	missense	probably benign	0.01
IGL02871:Casz1	APN	4	148944319	missense	possibly damaging	0.93
FR4340:Casz1	UTSW	4	148952302	small deletion	probably benign
G1Funyon:Casz1	UTSW	4	148946043	missense	probably damaging	0.98
H8562:Casz1	UTSW	4	148933451	missense	probably damaging	1.00
R0090:Casz1	UTSW	4	148933411	missense	probably benign	0.00
R0389:Casz1	UTSW	4	148948911	missense	possibly damaging	0.83
R0443:Casz1	UTSW	4	148948911	missense	possibly damaging	0.83
R0550:Casz1	UTSW	4	148952284	small deletion	probably benign
R0597:Casz1	UTSW	4	148944394	missense	probably benign	0.00
R1117:Casz1	UTSW	4	148934595	missense	probably damaging	1.00
R1476:Casz1	UTSW	4	148946171	missense	probably benign	0.05
R1540:Casz1	UTSW	4	148942900	unclassified	probably benign
R1610:Casz1	UTSW	4	148929087	missense	possibly damaging	0.54
R1779:Casz1	UTSW	4	148932937	missense	probably benign	0.00
R1874:Casz1	UTSW	4	148943211	missense	probably damaging	0.99
R1902:Casz1	UTSW	4	148936195	missense	possibly damaging	0.95
R1914:Casz1	UTSW	4	148932958	missense	probably damaging	1.00
R2126:Casz1	UTSW	4	148946064	missense	probably damaging	0.99
R2261:Casz1	UTSW	4	148929099	missense	probably damaging	0.96
R2262:Casz1	UTSW	4	148929099	missense	probably damaging	0.96
R3874:Casz1	UTSW	4	148939589	intron	probably benign
R4019:Casz1	UTSW	4	148932878	missense	probably benign	0.00
R4355:Casz1	UTSW	4	148952335	missense	unknown
R4420:Casz1	UTSW	4	148948918	missense	possibly damaging	0.90
R4610:Casz1	UTSW	4	148933267	missense	probably damaging	1.00
R4632:Casz1	UTSW	4	148951855	missense	possibly damaging	0.71
R4762:Casz1	UTSW	4	148938981	missense	probably damaging	1.00
R4824:Casz1	UTSW	4	148944571	missense	probably damaging	1.00
R4907:Casz1	UTSW	4	148944541	missense	probably damaging	1.00
R5628:Casz1	UTSW	4	148946096	missense	probably damaging	1.00
R5736:Casz1	UTSW	4	148929410	missense	probably benign	0.00
R5929:Casz1	UTSW	4	148938696	missense	probably damaging	1.00
R5929:Casz1	UTSW	4	148938969	missense	probably damaging	1.00
R5932:Casz1	UTSW	4	148939113	missense	possibly damaging	0.52
R6016:Casz1	UTSW	4	148934584	missense	probably damaging	1.00
R6019:Casz1	UTSW	4	148947038	missense	probably damaging	0.99
R6139:Casz1	UTSW	4	148951697	missense	probably damaging	1.00
R6223:Casz1	UTSW	4	148933383	missense	probably damaging	1.00
R6239:Casz1	UTSW	4	148938277	missense	probably damaging	1.00
R6323:Casz1	UTSW	4	148941704	missense	possibly damaging	0.89
R6354:Casz1	UTSW	4	148952542	missense	unknown
R6454:Casz1	UTSW	4	148951495	missense	probably damaging	0.99
R6479:Casz1	UTSW	4	148937078	missense	probably damaging	1.00
R6529:Casz1	UTSW	4	148938189	missense	probably damaging	1.00
R6772:Casz1	UTSW	4	148943206	missense	probably damaging	1.00
R7000:Casz1	UTSW	4	148929236	missense	probably damaging	1.00
R7152:Casz1	UTSW	4	148901291	start gained	probably benign
R7324:Casz1	UTSW	4	148947033	missense	probably damaging	0.99
R7339:Casz1	UTSW	4	148951745	missense	probably damaging	1.00
R7388:Casz1	UTSW	4	148952393	missense	unknown
R7480:Casz1	UTSW	4	148944586	missense	probably damaging	0.99
R7719:Casz1	UTSW	4	148944524	missense	probably damaging	0.99
R7789:Casz1	UTSW	4	148929406	missense	probably benign
R7801:Casz1	UTSW	4	148938249	missense	probably damaging	0.99
R7815:Casz1	UTSW	4	148929305	missense	possibly damaging	0.89
R7818:Casz1	UTSW	4	148946076	missense	probably damaging	1.00
R7938:Casz1	UTSW	4	148944486	missense	probably benign	0.05
R8045:Casz1	UTSW	4	148932779	missense	probably damaging	1.00
R8134:Casz1	UTSW	4	148943035	missense	probably damaging	1.00
R8165:Casz1	UTSW	4	148944431	missense	probably damaging	1.00
R8301:Casz1	UTSW	4	148946043	missense	probably damaging	0.98
R8419:Casz1	UTSW	4	148948583	missense	probably benign	0.29
RF001:Casz1	UTSW	4	148952304	small deletion	probably benign
RF063:Casz1	UTSW	4	148952304	small deletion	probably benign
X0018:Casz1	UTSW	4	148939008	missense	probably damaging	1.00
X0064:Casz1	UTSW	4	148932952	missense	probably damaging	0.99
Z1088:Casz1	UTSW	4	148944359	missense	probably benign
Z1176:Casz1	UTSW	4	148944359	missense	probably benign
Z1177:Casz1	UTSW	4	148933306	missense	probably damaging	1.00
Z1177:Casz1	UTSW	4	148944359	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAGTGAACCTGCTTGCTCTTACC -3'
(R):5'- TAAAGCCCTCACCTGCGGAGATAC -3'

Sequencing Primer
(F):5'- GCTTAAATGATGGCTCCAGC -3'
(R):5'- GAGATACACCTTCCAAGGCTCTG -3'

Posted On

2014-05-23