Mutagenetix > Incidental Mutation

Incidental Mutation 'R0363:Ciz1'

30162

Institutional Source

Beutler Lab

Gene Symbol

Ciz1

Ensembl Gene

ENSMUSG00000039205

Gene Name

CDKN1A interacting zinc finger protein 1

Synonyms

0610038H21Rik, 2900056O04Rik

MMRRC Submission

038569-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R0363 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32252724-32268311 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to C at 32267375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048792] [ENSMUST00000048964] [ENSMUST00000113331] [ENSMUST00000113331] [ENSMUST00000113332] [ENSMUST00000113334] [ENSMUST00000113334] [ENSMUST00000113338] [ENSMUST00000113338] [ENSMUST00000125818] [ENSMUST00000125818] [ENSMUST00000146423]

AlphaFold

Q8VEH2

Predicted Effect

probably benign
Transcript: ENSMUST00000048792

SMART Domains

Protein: ENSMUSP00000038970
Gene: ENSMUSG00000039195

Domain	Start	End	E-Value	Type
Pfam:UPF0184	1	83	5.5e-46	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000048964

SMART Domains

Protein: ENSMUSP00000048428
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
coiled coil region	5	45	N/A	INTRINSIC
low complexity region	58	80	N/A	INTRINSIC
low complexity region	85	99	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
low complexity region	361	390	N/A	INTRINSIC
ZnF_U1	534	568	1.23e-1	SMART
ZnF_C2H2	537	561	1.99e0	SMART
ZnF_U1	626	660	2.08e-1	SMART
ZnF_C2H2	629	653	3.02e0	SMART
low complexity region	689	709	N/A	INTRINSIC
ZnF_U1	744	779	1.43e-4	SMART
ZnF_C2H2	747	772	9.56e1	SMART
low complexity region	823	845	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113331

SMART Domains

Protein: ENSMUSP00000108957
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
coiled coil region	5	45	N/A	INTRINSIC
low complexity region	58	80	N/A	INTRINSIC
low complexity region	85	100	N/A	INTRINSIC
low complexity region	104	116	N/A	INTRINSIC
low complexity region	221	232	N/A	INTRINSIC
internal_repeat_2	252	284	9.48e-5	PROSPERO
internal_repeat_2	301	333	9.48e-5	PROSPERO
low complexity region	337	366	N/A	INTRINSIC
ZnF_U1	510	544	1.23e-1	SMART
ZnF_C2H2	513	537	1.99e0	SMART
ZnF_U1	602	636	2.08e-1	SMART
ZnF_C2H2	605	629	3.02e0	SMART
low complexity region	665	685	N/A	INTRINSIC
ZnF_U1	720	755	1.43e-4	SMART
ZnF_C2H2	723	748	9.56e1	SMART
low complexity region	799	821	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113331

SMART Domains

Protein: ENSMUSP00000108957
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
coiled coil region	5	45	N/A	INTRINSIC
low complexity region	58	80	N/A	INTRINSIC
low complexity region	85	100	N/A	INTRINSIC
low complexity region	104	116	N/A	INTRINSIC
low complexity region	221	232	N/A	INTRINSIC
internal_repeat_2	252	284	9.48e-5	PROSPERO
internal_repeat_2	301	333	9.48e-5	PROSPERO
low complexity region	337	366	N/A	INTRINSIC
ZnF_U1	510	544	1.23e-1	SMART
ZnF_C2H2	513	537	1.99e0	SMART
ZnF_U1	602	636	2.08e-1	SMART
ZnF_C2H2	605	629	3.02e0	SMART
low complexity region	665	685	N/A	INTRINSIC
ZnF_U1	720	755	1.43e-4	SMART
ZnF_C2H2	723	748	9.56e1	SMART
low complexity region	799	821	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113332

SMART Domains

Protein: ENSMUSP00000108958
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
coiled coil region	5	45	N/A	INTRINSIC
low complexity region	58	80	N/A	INTRINSIC
low complexity region	85	99	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
low complexity region	240	251	N/A	INTRINSIC
ZnF_U1	480	514	1.23e-1	SMART
ZnF_C2H2	483	507	1.99e0	SMART
Blast:ZnF_U1	543	570	2e-6	BLAST
ZnF_U1	572	606	2.08e-1	SMART
ZnF_C2H2	575	599	3.02e0	SMART
low complexity region	635	655	N/A	INTRINSIC
ZnF_U1	690	725	1.43e-4	SMART
ZnF_C2H2	693	718	9.56e1	SMART
low complexity region	769	791	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113334

SMART Domains

Protein: ENSMUSP00000108960
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
coiled coil region	5	45	N/A	INTRINSIC
low complexity region	58	80	N/A	INTRINSIC
low complexity region	85	99	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
low complexity region	361	390	N/A	INTRINSIC
ZnF_U1	534	568	1.23e-1	SMART
ZnF_C2H2	537	561	1.99e0	SMART
ZnF_U1	626	660	2.08e-1	SMART
ZnF_C2H2	629	653	3.02e0	SMART
low complexity region	689	709	N/A	INTRINSIC
ZnF_U1	744	779	1.43e-4	SMART
ZnF_C2H2	747	772	9.56e1	SMART
low complexity region	823	845	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113334

SMART Domains

Protein: ENSMUSP00000108960
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
coiled coil region	5	45	N/A	INTRINSIC
low complexity region	58	80	N/A	INTRINSIC
low complexity region	85	99	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
low complexity region	361	390	N/A	INTRINSIC
ZnF_U1	534	568	1.23e-1	SMART
ZnF_C2H2	537	561	1.99e0	SMART
ZnF_U1	626	660	2.08e-1	SMART
ZnF_C2H2	629	653	3.02e0	SMART
low complexity region	689	709	N/A	INTRINSIC
ZnF_U1	744	779	1.43e-4	SMART
ZnF_C2H2	747	772	9.56e1	SMART
low complexity region	823	845	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113338

SMART Domains

Protein: ENSMUSP00000108964
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
coiled coil region	5	45	N/A	INTRINSIC
low complexity region	58	80	N/A	INTRINSIC
low complexity region	85	99	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
low complexity region	361	390	N/A	INTRINSIC
ZnF_U1	534	568	1.23e-1	SMART
ZnF_C2H2	537	561	1.99e0	SMART
ZnF_U1	626	660	2.08e-1	SMART
ZnF_C2H2	629	653	3.02e0	SMART
low complexity region	689	709	N/A	INTRINSIC
ZnF_U1	744	779	1.43e-4	SMART
ZnF_C2H2	747	772	9.56e1	SMART
low complexity region	823	845	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113338

SMART Domains

Protein: ENSMUSP00000108964
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
coiled coil region	5	45	N/A	INTRINSIC
low complexity region	58	80	N/A	INTRINSIC
low complexity region	85	99	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
low complexity region	361	390	N/A	INTRINSIC
ZnF_U1	534	568	1.23e-1	SMART
ZnF_C2H2	537	561	1.99e0	SMART
ZnF_U1	626	660	2.08e-1	SMART
ZnF_C2H2	629	653	3.02e0	SMART
low complexity region	689	709	N/A	INTRINSIC
ZnF_U1	744	779	1.43e-4	SMART
ZnF_C2H2	747	772	9.56e1	SMART
low complexity region	823	845	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125482

SMART Domains

Protein: ENSMUSP00000120019
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
ZnF_C2H2	216	240	1.99e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000125818

SMART Domains

Protein: ENSMUSP00000117937
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
Blast:ZnF_U1	4	31	3e-6	BLAST
ZnF_U1	33	67	2.08e-1	SMART
ZnF_C2H2	36	60	3.02e0	SMART
low complexity region	96	116	N/A	INTRINSIC
ZnF_U1	151	186	1.43e-4	SMART
ZnF_C2H2	154	179	9.56e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000125818

SMART Domains

Protein: ENSMUSP00000117937
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
Blast:ZnF_U1	4	31	3e-6	BLAST
ZnF_U1	33	67	2.08e-1	SMART
ZnF_C2H2	36	60	3.02e0	SMART
low complexity region	96	116	N/A	INTRINSIC
ZnF_U1	151	186	1.43e-4	SMART
ZnF_C2H2	154	179	9.56e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145957

Predicted Effect

probably benign
Transcript: ENSMUST00000146423

SMART Domains

Protein: ENSMUSP00000142021
Gene: ENSMUSG00000039195

Domain	Start	End	E-Value	Type
Pfam:UPF0184	1	43	1.4e-5	PFAM

Meta Mutation Damage Score

0.9591

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 86.5%

Validation Efficiency

98% (78/80)

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 DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice hoomozygous for a knock-out allele exhibit decreased body size and gender specific effects on motor phenotypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	A	4: 109,381,520 (GRCm39)	Q86L	probably null	Het
Abhd2	A	G	7: 79,000,561 (GRCm39)	D262G	possibly damaging	Het
Abhd5	T	C	9: 122,197,211 (GRCm39)	F133L	possibly damaging	Het
Agap2	T	A	10: 126,926,834 (GRCm39)	V957E	probably damaging	Het
Ankrd12	T	C	17: 66,292,676 (GRCm39)	K919R	probably damaging	Het
Ap1m1	T	C	8: 73,006,738 (GRCm39)	S245P	probably benign	Het
Ap1m1	T	C	8: 73,010,568 (GRCm39)		probably benign	Het
Apcdd1	A	G	18: 63,070,168 (GRCm39)	Y145C	possibly damaging	Het
Apob	A	T	12: 8,060,136 (GRCm39)	N2840Y	probably damaging	Het
Arel1	A	G	12: 84,981,027 (GRCm39)	S327P	probably damaging	Het
Arhgap21	C	A	2: 20,885,944 (GRCm39)	R421L	probably damaging	Het
Ccdc85a	A	T	11: 28,533,400 (GRCm39)	I48N	probably damaging	Het
Chd6	A	G	2: 160,856,244 (GRCm39)	S672P	probably damaging	Het
Cmbl	G	A	15: 31,585,588 (GRCm39)		probably null	Het
Cmya5	A	G	13: 93,231,377 (GRCm39)	V1237A	possibly damaging	Het
Cntnap4	A	T	8: 113,583,143 (GRCm39)	K1074*	probably null	Het
Cntnap5b	A	G	1: 100,202,193 (GRCm39)	M347V	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cuzd1	A	T	7: 130,917,991 (GRCm39)	M203K	probably benign	Het
Cyp3a16	T	C	5: 145,392,689 (GRCm39)		probably benign	Het
Dlgap3	A	G	4: 127,129,314 (GRCm39)	E892G	probably damaging	Het
Dnah7b	T	C	1: 46,275,948 (GRCm39)	S2612P	probably damaging	Het
Epas1	T	G	17: 87,113,276 (GRCm39)		probably benign	Het
Etv5	G	A	16: 22,230,458 (GRCm39)	A192V	probably benign	Het
Fa2h	T	A	8: 112,075,921 (GRCm39)	H234L	probably damaging	Het
Fcho1	T	C	8: 72,170,134 (GRCm39)	Y47C	probably damaging	Het
Flvcr1	T	A	1: 190,744,451 (GRCm39)		probably benign	Het
Il1rl1	CTTGTTGTTGTTGTTGTTG	CTTGTTGTTGTTGTTGTTGTTG	1: 40,481,734 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	T	C	8: 82,610,886 (GRCm39)		probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kmt2a	A	G	9: 44,721,010 (GRCm39)		probably null	Het
Krt4	G	A	15: 101,833,081 (GRCm39)	R9C	possibly damaging	Het
Map1a	T	C	2: 121,132,525 (GRCm39)	S876P	probably damaging	Het
Mettl21e	A	G	1: 44,250,190 (GRCm39)		probably null	Het
Msh2	C	T	17: 88,024,904 (GRCm39)	T594M	probably benign	Het
Mtmr3	A	G	11: 4,437,536 (GRCm39)	S973P	probably damaging	Het
Muc5ac	A	T	7: 141,354,697 (GRCm39)	M889L	probably benign	Het
Ntn1	A	G	11: 68,276,369 (GRCm39)	I193T	probably benign	Het
Nudt13	A	T	14: 20,359,851 (GRCm39)	I193F	probably damaging	Het
Or2n1	A	G	17: 38,486,338 (GRCm39)	D121G	probably damaging	Het
Or3a1	C	T	11: 74,225,925 (GRCm39)	G44D	probably damaging	Het
Or4b1b	A	T	2: 90,112,200 (GRCm39)	S240T	probably damaging	Het
Or5p73	A	T	7: 108,064,941 (GRCm39)	T137S	possibly damaging	Het
Otulin	A	G	15: 27,606,381 (GRCm39)	V344A	probably damaging	Het
P2rx7	C	T	5: 122,795,093 (GRCm39)	Q128*	probably null	Het
Pcdhb22	G	A	18: 37,652,213 (GRCm39)	R227H	probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pltp	C	T	2: 164,682,056 (GRCm39)	R394H	probably benign	Het
Ppip5k1	C	G	2: 121,177,836 (GRCm39)	A324P	probably damaging	Het
Pramel14	C	T	4: 143,718,221 (GRCm39)	M407I	probably benign	Het
Prdm13	A	C	4: 21,679,737 (GRCm39)	V251G	unknown	Het
Prkg1	T	C	19: 31,641,596 (GRCm39)	E29G	probably damaging	Het
Prrc2c	A	G	1: 162,525,380 (GRCm39)	S409P	unknown	Het
Rp1	T	A	1: 4,417,941 (GRCm39)	D1057V	probably damaging	Het
Rttn	G	A	18: 89,029,079 (GRCm39)	C599Y	probably damaging	Het
Shisa6	C	T	11: 66,416,153 (GRCm39)	R213Q	probably benign	Het
Slc3a1	T	C	17: 85,340,273 (GRCm39)	Y232H	probably damaging	Het
Slx4	G	A	16: 3,797,953 (GRCm39)	A1477V	probably damaging	Het
Ssrp1	T	G	2: 84,871,018 (GRCm39)	I218S	probably damaging	Het
St6galnac1	A	C	11: 116,659,756 (GRCm39)	S186A	probably benign	Het
Stab1	A	G	14: 30,880,965 (GRCm39)		probably benign	Het
Sycp2	T	C	2: 177,988,204 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,118,981 (GRCm39)	I5867N	probably damaging	Het
Taar7f	T	A	10: 23,925,839 (GRCm39)	D144E	probably damaging	Het
Tlcd5	A	T	9: 43,023,048 (GRCm39)	M84K	probably damaging	Het
Tmem87b	T	A	2: 128,673,153 (GRCm39)	S196T	probably damaging	Het
Tnfrsf21	A	G	17: 43,348,768 (GRCm39)	T127A	probably benign	Het
Trp73	A	G	4: 154,148,406 (GRCm39)	I336T	probably benign	Het
Ttl	A	G	2: 128,917,981 (GRCm39)	I148V	probably damaging	Het
Ttll7	T	C	3: 146,649,970 (GRCm39)	Y667H	probably benign	Het
Ubr4	A	G	4: 139,119,171 (GRCm39)	T152A	probably damaging	Het
Vmn1r58	A	T	7: 5,413,636 (GRCm39)	V198E	probably damaging	Het
Vps52	T	A	17: 34,181,091 (GRCm39)	F376L	probably benign	Het
Zfp1007	T	C	5: 109,824,754 (GRCm39)	E232G	probably benign	Het

Other mutations in Ciz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Ciz1	APN	2	32,262,400 (GRCm39)	missense	probably damaging	1.00
IGL01872:Ciz1	APN	2	32,268,121 (GRCm39)	utr 3 prime	probably benign
R0029:Ciz1	UTSW	2	32,261,431 (GRCm39)	splice site	probably benign
R0122:Ciz1	UTSW	2	32,261,431 (GRCm39)	splice site	probably benign
R0373:Ciz1	UTSW	2	32,257,479 (GRCm39)	missense	probably damaging	1.00
R0653:Ciz1	UTSW	2	32,262,418 (GRCm39)	missense	probably damaging	1.00
R0816:Ciz1	UTSW	2	32,266,388 (GRCm39)	unclassified	probably benign
R1255:Ciz1	UTSW	2	32,255,888 (GRCm39)	critical splice donor site	probably null
R2116:Ciz1	UTSW	2	32,257,477 (GRCm39)	missense	probably damaging	0.99
R3161:Ciz1	UTSW	2	32,260,075 (GRCm39)	missense	probably benign	0.11
R3732:Ciz1	UTSW	2	32,257,495 (GRCm39)	missense	possibly damaging	0.68
R4014:Ciz1	UTSW	2	32,264,356 (GRCm39)	missense	probably damaging	0.96
R4386:Ciz1	UTSW	2	32,260,111 (GRCm39)	missense	possibly damaging	0.92
R4687:Ciz1	UTSW	2	32,257,477 (GRCm39)	missense	probably damaging	0.99
R4786:Ciz1	UTSW	2	32,267,539 (GRCm39)	missense	probably damaging	1.00
R4825:Ciz1	UTSW	2	32,261,753 (GRCm39)	missense	probably damaging	0.99
R4869:Ciz1	UTSW	2	32,254,247 (GRCm39)	missense	probably damaging	0.99
R4871:Ciz1	UTSW	2	32,262,300 (GRCm39)	splice site	probably benign
R5270:Ciz1	UTSW	2	32,264,511 (GRCm39)	splice site	probably null
R5429:Ciz1	UTSW	2	32,266,055 (GRCm39)	missense	possibly damaging	0.93
R5621:Ciz1	UTSW	2	32,261,753 (GRCm39)	missense	probably damaging	0.96
R5721:Ciz1	UTSW	2	32,266,052 (GRCm39)	missense	probably damaging	1.00
R5805:Ciz1	UTSW	2	32,257,408 (GRCm39)	missense	probably damaging	1.00
R5960:Ciz1	UTSW	2	32,261,228 (GRCm39)	missense	possibly damaging	0.85
R6187:Ciz1	UTSW	2	32,260,063 (GRCm39)	missense	possibly damaging	0.90
R6612:Ciz1	UTSW	2	32,267,323 (GRCm39)	missense	possibly damaging	0.93
R7006:Ciz1	UTSW	2	32,261,127 (GRCm39)	critical splice donor site	probably null
R7200:Ciz1	UTSW	2	32,254,299 (GRCm39)	missense	probably damaging	1.00
R7498:Ciz1	UTSW	2	32,261,761 (GRCm39)	missense	probably benign
R7574:Ciz1	UTSW	2	32,257,380 (GRCm39)	missense	probably benign	0.16
R7910:Ciz1	UTSW	2	32,260,139 (GRCm39)	critical splice donor site	probably null
R8390:Ciz1	UTSW	2	32,257,335 (GRCm39)	missense	probably benign	0.00
R8749:Ciz1	UTSW	2	32,255,848 (GRCm39)	missense	probably benign	0.03
R8765:Ciz1	UTSW	2	32,260,895 (GRCm39)	missense	probably damaging	0.99
R8784:Ciz1	UTSW	2	32,260,262 (GRCm39)	missense	probably benign	0.01
R8812:Ciz1	UTSW	2	32,254,286 (GRCm39)	missense	probably benign	0.00
R8927:Ciz1	UTSW	2	32,257,512 (GRCm39)	nonsense	probably null
R8928:Ciz1	UTSW	2	32,257,512 (GRCm39)	nonsense	probably null
R9681:Ciz1	UTSW	2	32,260,974 (GRCm39)	missense	possibly damaging	0.71
R9744:Ciz1	UTSW	2	32,253,859 (GRCm39)	missense	unknown
X0018:Ciz1	UTSW	2	32,261,264 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAAGTGTCAAGTGTGATGAAGACCC -3'
(R):5'- GCAGTGAGAAAGCCGCAATTCTG -3'

Sequencing Primer
(F):5'- ttcaattccccaaacccctc -3'
(R):5'- CAATTCTGAGTTGCTGTCGTAGAAC -3'

Posted On

2013-04-24