Mutagenetix > Incidental Mutation

Incidental Mutation 'R7801:Casz1'

600523

Institutional Source

Beutler Lab

Gene Symbol

Casz1

Ensembl Gene

ENSMUSG00000028977

Gene Name

castor zinc finger 1

Synonyms

D4Ertd432e, Cst, castor, 2410019P08Rik

MMRRC Submission

045856-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7801 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148888886-149039346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 149022706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 591 (T591S)

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: T591S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092035
Gene: ENSMUSG00000028977
AA Change: T591S

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: T591S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112978
Gene: ENSMUSG00000028977
AA Change: T591S

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 damaging
Transcript: ENSMUST00000139806
AA Change: T305S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120307
Gene: ENSMUSG00000028977
AA Change: T305S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (47/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	G	1: 89,558,207 (GRCm39)	Y165C	probably damaging	Het
Agbl3	A	T	6: 34,816,300 (GRCm39)	T742S	probably benign	Het
Arhgef10l	T	C	4: 140,271,578 (GRCm39)	T651A	probably benign	Het
Arsb	T	A	13: 93,998,835 (GRCm39)	I381N	probably damaging	Het
Blzf1	A	G	1: 164,123,478 (GRCm39)	V283A	probably benign	Het
Cadps	C	T	14: 12,489,476 (GRCm38)		probably null	Het
Ccne2	T	C	4: 11,194,079 (GRCm39)		probably null	Het
Chst9	T	C	18: 15,585,334 (GRCm39)	T410A	probably benign	Het
Ciart	G	A	3: 95,788,656 (GRCm39)	P61L	probably damaging	Het
Fam234a	T	C	17: 26,437,172 (GRCm39)	D169G	probably benign	Het
Fat1	C	T	8: 45,495,260 (GRCm39)	P4116L	probably damaging	Het
Fbxo21	G	T	5: 118,124,189 (GRCm39)	A166S	probably damaging	Het
Gbf1	A	G	19: 46,261,082 (GRCm39)	I1216V	probably benign	Het
Gper1	G	A	5: 139,412,443 (GRCm39)	A263T	probably benign	Het
Hdlbp	G	T	1: 93,358,029 (GRCm39)		probably null	Het
Ighg3	A	T	12: 113,323,436 (GRCm39)	L280Q		Het
Impa1	T	C	3: 10,386,727 (GRCm39)	T171A	probably benign	Het
Ints7	T	A	1: 191,347,859 (GRCm39)	Y744N	possibly damaging	Het
Irgc	G	T	7: 24,131,959 (GRCm39)	A286D	probably damaging	Het
Kif18a	T	C	2: 109,118,190 (GRCm39)	S2P	probably damaging	Het
Macf1	A	T	4: 123,302,064 (GRCm39)	W813R	probably damaging	Het
Mapkbp1	T	G	2: 119,842,554 (GRCm39)	H157Q	probably damaging	Het
Mfsd4b2	T	A	10: 39,799,777 (GRCm39)	M42L	probably benign	Het
Mon2	A	G	10: 122,895,091 (GRCm39)		probably null	Het
Myrfl	T	A	10: 116,684,240 (GRCm39)	H161L	probably benign	Het
Or2aj6	T	C	16: 19,443,373 (GRCm39)	H159R	probably damaging	Het
Or7g19	A	C	9: 18,856,555 (GRCm39)	S204R	probably damaging	Het
Phlpp2	T	G	8: 110,652,474 (GRCm39)	V606G	possibly damaging	Het
Psmb5	T	C	14: 54,854,212 (GRCm39)	T89A	probably benign	Het
Ptpn9	A	G	9: 56,968,297 (GRCm39)	T546A	probably benign	Het
Qrfprl	T	A	6: 65,418,201 (GRCm39)	V123D	probably damaging	Het
Rabep2	A	G	7: 126,037,584 (GRCm39)	M146V	possibly damaging	Het
Rptn	G	A	3: 93,305,531 (GRCm39)	E955K	possibly damaging	Het
Samd3	G	T	10: 26,139,770 (GRCm39)	V301F	possibly damaging	Het
Sh2b1	C	A	7: 126,070,464 (GRCm39)	C380F	probably benign	Het
Shank1	A	G	7: 44,001,022 (GRCm39)	M914V	unknown	Het
Sox2	G	A	3: 34,704,791 (GRCm39)	R76H	probably damaging	Het
Stat5a	T	C	11: 100,771,143 (GRCm39)	F574S	probably damaging	Het
Tbx5	A	G	5: 119,975,064 (GRCm39)	E29G	probably benign	Het
Trpm5	A	C	7: 142,638,978 (GRCm39)	D264E	probably damaging	Het
Zfp442	T	C	2: 150,251,639 (GRCm39)	S88G	probably benign	Het
Zfp62	T	A	11: 49,108,155 (GRCm39)	F749I	possibly damaging	Het
Zfp677	T	A	17: 21,618,277 (GRCm39)	S445T	probably damaging	Het
Zfp979	A	C	4: 147,698,435 (GRCm39)	N91K	probably damaging	Het
Zfyve9	A	G	4: 108,542,192 (GRCm39)	V209A	possibly damaging	Het
Zic4	G	T	9: 91,266,297 (GRCm39)	A314S	probably benign	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
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
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'- TTCCCTGAATAGAACCCCATGG -3'
(R):5'- TCTCGTGGGAAGACTGAAGG -3'

Sequencing Primer
(F):5'- ATGGTCCTGGCTCCAACCAC -3'
(R):5'- GCAGGGCCATTAAGCAGC -3'

Posted On

2019-11-26