Mutagenetix > Incidental Mutation

Incidental Mutation 'R1255:Ciz1'

151403

Institutional Source

Beutler Lab

Gene Symbol

Ciz1

Ensembl Gene

ENSMUSG00000039205

Gene Name

CDKN1A interacting zinc finger protein 1

Synonyms

0610038H21Rik, 2900056O04Rik

MMRRC Submission

039322-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R1255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32252724-32268311 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 32255888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048964] [ENSMUST00000113331] [ENSMUST00000113332] [ENSMUST00000113334] [ENSMUST00000113334] [ENSMUST00000113338] [ENSMUST00000113338] [ENSMUST00000131152] [ENSMUST00000132028] [ENSMUST00000136079] [ENSMUST00000136079]

AlphaFold

Q8VEH2

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 benign
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

noncoding transcript
Transcript: ENSMUST00000125769

Predicted Effect

probably benign
Transcript: ENSMUST00000131152

SMART Domains

Protein: ENSMUSP00000141211
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
coiled coil region	5	45	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000132028

SMART Domains

Protein: ENSMUSP00000120295
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

Predicted Effect

probably null
Transcript: ENSMUST00000136079

SMART Domains

Protein: ENSMUSP00000116812
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

Predicted Effect

probably null
Transcript: ENSMUST00000136079

SMART Domains

Protein: ENSMUSP00000116812
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136325

Predicted Effect

probably benign
Transcript: ENSMUST00000139637

SMART Domains

Protein: ENSMUSP00000122469
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
low complexity region	85	96	N/A	INTRINSIC
low complexity region	201	230	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151806

SMART Domains

Protein: ENSMUSP00000119429
Gene: ENSMUSG00000039205

Domain	Start	End	E-Value	Type
low complexity region	70	81	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.9%

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 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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,807,016 (GRCm39)	S21C	probably damaging	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Acsf3	T	C	8: 123,512,705 (GRCm39)		probably null	Het
Aff3	A	T	1: 38,243,965 (GRCm39)		probably null	Het
Antxr2	A	T	5: 98,123,231 (GRCm39)	I272N	probably benign	Het
Asphd2	A	C	5: 112,539,677 (GRCm39)	V52G	probably damaging	Het
Atxn3	T	A	12: 101,900,593 (GRCm39)	Q230L	probably damaging	Het
Bltp3b	T	C	10: 89,581,132 (GRCm39)	I9T	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Dennd5b	A	T	6: 148,943,148 (GRCm39)	M576K	possibly damaging	Het
Ebf3	C	T	7: 136,826,941 (GRCm39)	V315I	probably benign	Het
Epha5	G	T	5: 84,298,254 (GRCm39)	A383E	probably damaging	Het
Epha5	C	T	5: 84,298,255 (GRCm39)	A383T	probably damaging	Het
Gimap1	T	A	6: 48,719,940 (GRCm39)	V184E	probably benign	Het
Gtf2f1	A	G	17: 57,317,982 (GRCm39)	V18A	probably damaging	Het
Kcnn3	A	T	3: 89,559,416 (GRCm39)	D562V	possibly damaging	Het
Kif20b	A	G	19: 34,927,506 (GRCm39)	T883A	probably benign	Het
Kmt2c	A	T	5: 25,556,151 (GRCm39)	L1198Q	probably damaging	Het
Nipal2	T	C	15: 34,584,828 (GRCm39)	I247V	probably benign	Het
Or5ak22	T	A	2: 85,230,647 (GRCm39)	I77F	probably damaging	Het
Rad51ap2	G	T	12: 11,508,095 (GRCm39)	K672N	possibly damaging	Het
Rbm28	C	T	6: 29,158,246 (GRCm39)	G155D	probably damaging	Het
Sema6a	A	T	18: 47,382,366 (GRCm39)	M701K	probably damaging	Het
Slc47a1	A	T	11: 61,260,974 (GRCm39)	L142Q	probably damaging	Het
Snx25	A	T	8: 46,569,275 (GRCm39)	N207K	probably benign	Het
Son	T	A	16: 91,461,583 (GRCm39)	V205E	probably damaging	Het
Spz1	C	A	13: 92,712,138 (GRCm39)	V113F	probably benign	Het
Tcn2	T	C	11: 3,872,120 (GRCm39)	T336A	probably benign	Het
Tln1	T	C	4: 43,538,044 (GRCm39)	D1852G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Zfp729a	T	C	13: 67,769,965 (GRCm39)	E88G	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
R0363:Ciz1	UTSW	2	32,267,375 (GRCm39)	critical splice donor site	probably null
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
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'- ACCCCACTGAGATGAACTGACATCTG -3'
(R):5'- CCTCCCCTCGTCTGTCAAATGAAG -3'

Sequencing Primer
(F):5'- gagactcttctcacagtagatcc -3'
(R):5'- ctcgtctgtcaaatgaagatTCAAAG -3'

Posted On

2014-01-29