Mutagenetix > Incidental Mutation

Incidental Mutation 'R1874:Casz1'

211019

Institutional Source

Beutler Lab

Gene Symbol

Casz1

Ensembl Gene

ENSMUSG00000028977

Gene Name

castor zinc finger 1

Synonyms

D4Ertd432e, 2410019P08Rik, Cst, castor

MMRRC Submission

039896-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1874 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

148804429-148954889 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 148943211 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1015 (T1015S)

Ref Sequence

ENSEMBL: ENSMUSP00000092035 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000094464
AA Change: T1015S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092035
Gene: ENSMUSG00000028977
AA Change: T1015S

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 damaging
Transcript: ENSMUST00000122222
AA Change: T1015S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: T1015S

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

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 94.1%

Validation Efficiency

96% (105/109)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,742,691	S217G	probably benign	Het
Adrb3	C	A	8: 27,227,563	R286L	probably damaging	Het
Akap11	T	A	14: 78,511,866	D1027V	probably benign	Het
Ank3	A	T	10: 69,898,083	I726F	probably damaging	Het
Ankmy2	T	A	12: 36,165,931	D43E	possibly damaging	Het
Ankrd34b	A	G	13: 92,439,556	D432G	probably damaging	Het
Ano3	A	C	2: 110,884,872	S74A	probably benign	Het
B4galnt4	T	A	7: 141,070,526	S769T	probably damaging	Het
Bicral	T	A	17: 46,825,178	T369S	probably benign	Het
Blm	A	G	7: 80,497,418	L738P	probably damaging	Het
Bpifb3	A	G	2: 153,925,840	T278A	probably benign	Het
Bpifb5	A	G	2: 154,227,202		probably benign	Het
Brd8	G	C	18: 34,610,474	P266R	probably damaging	Het
Btaf1	A	T	19: 36,980,583	M587L	probably benign	Het
Cdh23	A	G	10: 60,436,818	I524T	possibly damaging	Het
Celsr3	T	C	9: 108,835,838	V1825A	probably benign	Het
Cenpf	A	G	1: 189,683,816	L104P	probably damaging	Het
Clasp1	G	T	1: 118,600,585		probably null	Het
Coprs	A	G	8: 13,885,112	W148R	probably damaging	Het
Cpne1	A	G	2: 156,078,382	S168P	probably damaging	Het
Cpxm2	T	C	7: 132,059,834	Y408C	probably damaging	Het
Ctnna3	A	G	10: 63,504,107	E24G	possibly damaging	Het
Cubn	T	A	2: 13,323,002	S2671C	probably damaging	Het
Cyp4f39	T	A	17: 32,483,324	F265Y	probably damaging	Het
Dgkq	C	A	5: 108,660,595	R34L	probably benign	Het
Dnajc7	C	T	11: 100,599,313		probably benign	Het
Eml6	T	G	11: 29,831,136	D632A	probably damaging	Het
Fbxl18	G	A	5: 142,886,223	A419V	probably damaging	Het
Fbxw22	A	T	9: 109,385,111	C212*	probably null	Het
Ffar2	A	G	7: 30,819,414		probably null	Het
Fga	A	T	3: 83,032,721	T561S	probably damaging	Het
Fry	A	G	5: 150,345,921	Y159C	probably damaging	Het
Gal3st1	A	G	11: 3,998,231	Y146C	probably damaging	Het
Gapvd1	A	T	2: 34,706,021	H788Q	probably damaging	Het
Gimap7	G	A	6: 48,723,515	V12I	possibly damaging	Het
Gli2	C	A	1: 119,002,049	A43S	possibly damaging	Het
Gm15446	T	C	5: 109,942,553	F224L	probably damaging	Het
Gm21738	C	T	14: 19,418,824	V35I	possibly damaging	Het
Grhl1	T	C	12: 24,586,156		probably benign	Het
Grk6	T	C	13: 55,450,273	Y53H	probably damaging	Het
Hcar1	C	T	5: 123,879,265	R121K	probably damaging	Het
Hmcn1	A	C	1: 150,720,695	S1797A	probably damaging	Het
Hsd17b7	A	T	1: 169,955,993	L282Q	possibly damaging	Het
Irs1	TTCTCTGAGTGGCCACAGCGTCT	TTCT	1: 82,289,853		probably null	Het
Kif1b	C	T	4: 149,187,632	V1571I	probably benign	Het
Lpl	T	A	8: 68,896,619	C266S	probably damaging	Het
Mag	G	A	7: 30,909,051	H213Y	probably benign	Het
Mansc4	T	G	6: 147,075,190	R309S	probably benign	Het
Mlh3	A	G	12: 85,237,513		probably null	Het
Mndal	G	A	1: 173,860,367		probably benign	Het
Mrgpra2b	T	A	7: 47,463,994	E330V	probably damaging	Het
Myh3	A	G	11: 67,093,179	I990V	probably benign	Het
Myoz2	A	T	3: 123,026,116	S65T	probably damaging	Het
Naa16	T	C	14: 79,355,743	E463G	possibly damaging	Het
Nadsyn1	A	G	7: 143,797,844	F684S	probably damaging	Het
Notch1	T	C	2: 26,481,579	E286G	possibly damaging	Het
Nynrin	A	T	14: 55,863,493	I247L	probably benign	Het
Olfr136	C	T	17: 38,335,969	P271S	probably damaging	Het
Olfr644	T	C	7: 104,068,129	I301V	probably null	Het
Olfr981	T	A	9: 40,022,855	I154N	possibly damaging	Het
Oprm1	A	G	10: 6,789,035	H54R	probably benign	Het
P4hb	C	T	11: 120,562,166	D483N	probably benign	Het
Pak1	T	C	7: 97,871,580	S149P	probably benign	Het
Pars2	T	C	4: 106,653,716	F232L	possibly damaging	Het
Pih1d2	A	G	9: 50,620,945	M88V	possibly damaging	Het
Pms1	A	T	1: 53,207,233	N382K	probably benign	Het
Pnliprp2	G	T	19: 58,763,389	V189L	probably benign	Het
Pole	G	A	5: 110,323,664	V1425M	possibly damaging	Het
Pot1b	T	A	17: 55,654,805	Q591L	probably benign	Het
Ppp1r9a	C	T	6: 4,906,348	T301M	possibly damaging	Het
Psg21	T	C	7: 18,650,816	E335G	probably benign	Het
Ptpru	T	A	4: 131,769,755	M1416L	probably benign	Het
Pxn	T	C	5: 115,544,990	V117A	probably damaging	Het
Qsox1	C	T	1: 155,812,639	R54H	possibly damaging	Het
Rad1	A	G	15: 10,488,006	E42G	probably damaging	Het
Rpp14	A	G	14: 8,090,145	Y23C	probably benign	Het
Sdk2	C	T	11: 113,834,956	V1156I	probably benign	Het
Serpina3j	G	T	12: 104,319,699	R371L	probably benign	Het
Serpinb9d	T	A	13: 33,197,963		probably null	Het
Sirt5	C	T	13: 43,370,791	S13F	possibly damaging	Het
Slc6a7	T	A	18: 61,001,398		probably benign	Het
Slx4	A	G	16: 3,986,848	S701P	probably benign	Het
Snx29	A	G	16: 11,367,681	T43A	probably benign	Het
Speg	T	C	1: 75,423,906	V2570A	probably benign	Het
Srrm4	T	A	5: 116,453,506		probably benign	Het
Stk32a	A	G	18: 43,261,316	Y110C	probably damaging	Het
Tbc1d31	G	A	15: 57,916,110	G73E	probably benign	Het
Thsd7a	A	T	6: 12,555,435	I150N	possibly damaging	Het
Tjp1	A	T	7: 65,319,253	D699E	probably damaging	Het
Tmem143	A	G	7: 45,916,564	D437G	possibly damaging	Het
Tmem45a2	A	G	16: 57,047,084	Y85H	possibly damaging	Het
Tmem45b	T	A	9: 31,429,087	T7S	probably damaging	Het
Ube4b	A	G	4: 149,347,971	L832P	probably damaging	Het
Ugp2	G	T	11: 21,329,048	F379L	probably damaging	Het
Ugt3a2	A	T	15: 9,365,351	D350V	probably damaging	Het
Vmn2r8	T	A	5: 108,802,418	T188S	possibly damaging	Het
Vwa7	C	G	17: 35,017,112	P14R	probably benign	Het
Vwc2	C	A	11: 11,261,495	T317K	probably damaging	Het
Vwf	A	T	6: 125,628,372	Q906L	probably benign	Het
Wdr49	A	G	3: 75,429,347	V351A	probably damaging	Het
Wdr7	A	G	18: 63,728,504	S196G	probably benign	Het
Xkr6	C	A	14: 63,798,296	A26E	unknown	Het
Zcchc11	T	A	4: 108,550,725	V1397D	probably damaging	Het
Zfp955b	T	C	17: 33,305,453	I47V	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
R1764:Casz1	UTSW	4	148942900	unclassified	probably benign
R1779:Casz1	UTSW	4	148932937	missense	probably benign	0.00
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
R9047:Casz1	UTSW	4	148939040	missense	probably damaging	1.00
R9420:Casz1	UTSW	4	148938863	missense	probably damaging	0.99
R9584:Casz1	UTSW	4	148901247	start gained	probably benign
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'- GGCACTAGTTCAAGAGAAGCTG -3'
(R):5'- TCCAGGGCATAGCATAGATGG -3'

Sequencing Primer
(F):5'- GCTGTCAGAGCCTTGGAAG -3'
(R):5'- CATAGATGGGGTGTTTTAAGGAAC -3'

Posted On

2014-06-30