Mutagenetix > Incidental Mutation

Incidental Mutation 'R7574:Ciz1'

586206

Institutional Source

Beutler Lab

Gene Symbol

Ciz1

Ensembl Gene

ENSMUSG00000039205

Gene Name

CDKN1A interacting zinc finger protein 1

Synonyms

0610038H21Rik, 2900056O04Rik

MMRRC Submission

045660-MU

Accession Numbers

Essential gene?

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

Stock #

R7574 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32352327-32380970 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32367368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 142 (M142V)

Ref Sequence

ENSEMBL: ENSMUSP00000048428 (fasta)

Gene Model

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

AlphaFold

Q8VEH2

Predicted Effect

probably benign
Transcript: ENSMUST00000048964
AA Change: M142V

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000048428
Gene: ENSMUSG00000039205
AA Change: M142V

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
AA Change: M118V

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108957
Gene: ENSMUSG00000039205
AA Change: M118V

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 benign
Transcript: ENSMUST00000113332
AA Change: M142V

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000108958
Gene: ENSMUSG00000039205
AA Change: M142V

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 benign
Transcript: ENSMUST00000113334
AA Change: M142V

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108960
Gene: ENSMUSG00000039205
AA Change: M142V

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: ENSMUST00000113338
AA Change: M142V

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108964
Gene: ENSMUSG00000039205
AA Change: M142V

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 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 benign
Transcript: ENSMUST00000132028
AA Change: M142V

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120295
Gene: ENSMUSG00000039205
AA Change: M142V

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 benign
Transcript: ENSMUST00000136079
AA Change: M142V

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116812
Gene: ENSMUSG00000039205
AA Change: M142V

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 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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,469,942	V240A	probably damaging	Het
A930009A15Rik	C	T	10: 115,570,114		probably benign	Het
Aarsd1	A	G	11: 101,411,144	I201T	probably damaging	Het
Acaca	T	A	11: 84,261,588	Y854N	probably benign	Het
Adra2c	T	C	5: 35,280,415	L177P	probably damaging	Het
Akr1c12	A	T	13: 4,279,310	I16N	probably damaging	Het
Aldh8a1	A	T	10: 21,380,830	I47F	possibly damaging	Het
Birc6	A	G	17: 74,579,884	I736V	probably benign	Het
Bmp2	A	T	2: 133,560,897	M123L	probably benign	Het
C1ql1	T	C	11: 102,945,986	Y159C	probably damaging	Het
Ccdc148	T	C	2: 58,823,633	Y502C	probably damaging	Het
Ccdc155	A	T	7: 45,204,611	H31Q	possibly damaging	Het
Cenpf	A	T	1: 189,658,667	N989K	probably damaging	Het
Cnot4	T	C	6: 35,053,004	R320G	possibly damaging	Het
Cyth1	G	T	11: 118,182,863	H215N	probably damaging	Het
Dapk1	G	A	13: 60,761,173	G1200D	probably damaging	Het
Dhps	A	G	8: 85,072,552	Y103C	probably damaging	Het
Dnah1	T	A	14: 31,319,908	E35D	probably benign	Het
Dnajb9	A	T	12: 44,207,386	D79E	probably damaging	Het
Eif4a2	T	C	16: 23,110,127	F164S	probably benign	Het
Enpp2	T	C	15: 54,851,417	T595A	probably benign	Het
Exoc6b	T	A	6: 84,791,384		probably null	Het
Fam171a1	T	C	2: 3,220,354	S286P	probably damaging	Het
Fam35a	C	T	14: 34,237,466	S853N	probably damaging	Het
Fermt2	T	A	14: 45,469,325	N338I	probably damaging	Het
Fhdc1	A	G	3: 84,446,131	F596L	probably benign	Het
Fry	T	C	5: 150,380,894	V583A	probably benign	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Gdap1	T	A	1: 17,161,441	F337I	possibly damaging	Het
Git2	C	T	5: 114,766,489	R123H	probably damaging	Het
Gm14085	A	T	2: 122,522,844	I502F	not run	Het
Gm35339	T	A	15: 76,357,749	Y747*	probably null	Het
Gm8251	A	T	1: 44,059,433	V835E	possibly damaging	Het
Gpr6	A	T	10: 41,070,656	I310N	possibly damaging	Het
Gpsm2	G	A	3: 108,700,745	A239V	probably damaging	Het
Hexa	T	C	9: 59,563,984	V507A	probably benign	Het
Hmcn2	A	T	2: 31,455,519	H4718L	possibly damaging	Het
Hrh4	T	C	18: 13,021,913	F170L	possibly damaging	Het
Ica1	T	C	6: 8,658,266	T284A	probably benign	Het
Itga5	T	C	15: 103,350,449	N774S	probably damaging	Het
Itgb2	T	C	10: 77,560,158	S556P	probably benign	Het
Kcnq4	A	G	4: 120,711,368	F384L	probably benign	Het
Lama2	A	T	10: 27,006,730	N2612K	probably benign	Het
Lnx1	T	C	5: 74,685,438	E117G	probably benign	Het
Lrrc14b	G	T	13: 74,360,773	A505E	probably damaging	Het
Ly6g	T	C	15: 75,158,564	I77T	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mrgpre	C	T	7: 143,781,350	V139M	probably damaging	Het
Muc4	T	A	16: 32,753,411	S1096T	probably benign	Het
Myrfl	G	A	10: 116,831,525	R337*	probably null	Het
Ndufa4	C	T	6: 11,906,093	V20I	probably benign	Het
Nf1	A	G	11: 79,408,769	D241G	probably null	Het
Nid1	A	G	13: 13,468,443	D322G	probably benign	Het
Nova1	A	T	12: 46,700,761	D244E	unknown	Het
Olfr1022	A	G	2: 85,869,006	K138R	probably benign	Het
Olfr1240	T	C	2: 89,439,401	K293E	possibly damaging	Het
Olfr743	T	A	14: 50,534,313	D300E	probably benign	Het
Padi2	C	A	4: 140,949,337	N595K	possibly damaging	Het
Pag1	A	G	3: 9,693,891	I389T	probably damaging	Het
Pcdh10	G	T	3: 45,381,375	G708V	possibly damaging	Het
Pecam1	A	G	11: 106,699,784	S55P	probably damaging	Het
Plin3	A	T	17: 56,284,192	V196E	possibly damaging	Het
Plxdc1	A	T	11: 97,956,490	L119Q	possibly damaging	Het
Pnliprp1	A	T	19: 58,738,249	N346I	probably damaging	Het
Ppp1r27	A	T	11: 120,551,030	Y8*	probably null	Het
Prg3	A	T	2: 84,989,402	D80V	probably damaging	Het
Prmt5	T	C	14: 54,507,890	N607D	possibly damaging	Het
Ptprs	A	G	17: 56,423,538	F1144L	probably benign	Het
Rai14	C	T	15: 10,593,103	G152R	probably damaging	Het
Rap1gds1	T	A	3: 138,956,215	R427*	probably null	Het
Recql5	A	G	11: 115,928,422	V106A	probably benign	Het
Resp18	T	C	1: 75,273,971	T155A	probably benign	Het
Rfx6	A	G	10: 51,681,818	D129G	probably benign	Het
Rsf1	T	A	7: 97,661,167	I368K		Het
Sema6a	C	G	18: 47,291,164	V226L	probably damaging	Het
Sf1	A	G	19: 6,372,204	E220G	probably damaging	Het
Sidt1	T	A	16: 44,259,485	Y602F	probably damaging	Het
Slc17a8	A	G	10: 89,592,146	I273T	probably benign	Het
Slc41a1	A	T	1: 131,839,151	I136F	probably damaging	Het
Snrpb	T	C	2: 130,177,019	I51V	probably benign	Het
Sprr2f	T	A	3: 92,365,947	C18S	unknown	Het
Stab1	T	C	14: 31,154,665	N864S	probably benign	Het
Svil	C	A	18: 5,095,188	T1457K	probably benign	Het
Syt1	A	T	10: 108,504,401	I352N	probably damaging	Het
Tas2r119	A	G	15: 32,178,133	K282E	probably damaging	Het
Timeless	T	C	10: 128,244,669	F473S	probably damaging	Het
Tmc3	A	G	7: 83,598,273	D192G	probably damaging	Het
Trmt1l	T	A	1: 151,440,840	I184N	possibly damaging	Het
Ttll6	G	A	11: 96,134,875	V61M	probably damaging	Het
Ttn	C	T	2: 76,802,411	E14100K	probably damaging	Het
Txndc2	T	A	17: 65,638,625	I186F	possibly damaging	Het
Ubr1	A	T	2: 120,873,191	S1553T	possibly damaging	Het
Vmn1r208	T	C	13: 22,772,535	N264S	probably benign	Het
Vmn1r87	T	A	7: 13,131,686	M225L	probably benign	Het
Vmn2r101	T	A	17: 19,611,637	C632S	possibly damaging	Het
Zfp474	T	C	18: 52,639,189	S305P	probably benign	Het
Zfp59	A	G	7: 27,853,438	N105S	probably benign	Het
Zfp804b	T	A	5: 6,772,301	Y254F	possibly damaging	Het

Other mutations in Ciz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Ciz1	APN	2	32372388	missense	probably damaging	1.00
IGL01872:Ciz1	APN	2	32378109	utr 3 prime	probably benign
R0029:Ciz1	UTSW	2	32371419	splice site	probably benign
R0122:Ciz1	UTSW	2	32371419	splice site	probably benign
R0363:Ciz1	UTSW	2	32377363	critical splice donor site	probably null
R0373:Ciz1	UTSW	2	32367467	missense	probably damaging	1.00
R0653:Ciz1	UTSW	2	32372406	missense	probably damaging	1.00
R0816:Ciz1	UTSW	2	32376376	unclassified	probably benign
R1255:Ciz1	UTSW	2	32365876	critical splice donor site	probably null
R2116:Ciz1	UTSW	2	32367465	missense	probably damaging	0.99
R3161:Ciz1	UTSW	2	32370063	missense	probably benign	0.11
R3732:Ciz1	UTSW	2	32367483	missense	possibly damaging	0.68
R4014:Ciz1	UTSW	2	32374344	missense	probably damaging	0.96
R4386:Ciz1	UTSW	2	32370099	missense	possibly damaging	0.92
R4687:Ciz1	UTSW	2	32367465	missense	probably damaging	0.99
R4786:Ciz1	UTSW	2	32377527	missense	probably damaging	1.00
R4825:Ciz1	UTSW	2	32371741	missense	probably damaging	0.99
R4869:Ciz1	UTSW	2	32364235	missense	probably damaging	0.99
R4871:Ciz1	UTSW	2	32372288	splice site	probably benign
R5270:Ciz1	UTSW	2	32374499	splice site	probably null
R5429:Ciz1	UTSW	2	32376043	missense	possibly damaging	0.93
R5621:Ciz1	UTSW	2	32371741	missense	probably damaging	0.96
R5721:Ciz1	UTSW	2	32376040	missense	probably damaging	1.00
R5805:Ciz1	UTSW	2	32367396	missense	probably damaging	1.00
R5960:Ciz1	UTSW	2	32371216	missense	possibly damaging	0.85
R6187:Ciz1	UTSW	2	32370051	missense	possibly damaging	0.90
R6612:Ciz1	UTSW	2	32377311	missense	possibly damaging	0.93
R7006:Ciz1	UTSW	2	32371115	critical splice donor site	probably null
R7200:Ciz1	UTSW	2	32364287	missense	probably damaging	1.00
R7498:Ciz1	UTSW	2	32371749	missense	probably benign
R7910:Ciz1	UTSW	2	32370127	critical splice donor site	probably null
R8390:Ciz1	UTSW	2	32367323	missense	probably benign	0.00
R8749:Ciz1	UTSW	2	32365836	missense	probably benign	0.03
R8765:Ciz1	UTSW	2	32370883	missense	probably damaging	0.99
R8784:Ciz1	UTSW	2	32370250	missense	probably benign	0.01
R8812:Ciz1	UTSW	2	32364274	missense	probably benign	0.00
R8927:Ciz1	UTSW	2	32367500	nonsense	probably null
R8928:Ciz1	UTSW	2	32367500	nonsense	probably null
R9681:Ciz1	UTSW	2	32370962	missense	possibly damaging	0.71
R9744:Ciz1	UTSW	2	32363847	missense	unknown
X0018:Ciz1	UTSW	2	32371252	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACAGTGGATCTTACCTTGGC -3'
(R):5'- GCACTACTCACCTTGCGATTG -3'

Sequencing Primer
(F):5'- ACCTCTACTTCCCTGGATAAGAGG -3'
(R):5'- CACCTTGCGATTGGGGGTG -3'

Posted On

2019-10-24