Mutagenetix > Incidental Mutation

Incidental Mutation 'R4687:Ciz1'

353720

Institutional Source

Beutler Lab

Gene Symbol

Ciz1

Ensembl Gene

ENSMUSG00000039205

Gene Name

CDKN1A interacting zinc finger protein 1

Synonyms

0610038H21Rik, 2900056O04Rik

MMRRC Submission

041938-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R4687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32352327-32380970 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32367465 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 174 (L174P)

Ref Sequence

ENSEMBL: ENSMUSP00000116812 (fasta)

Gene Model

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

AlphaFold

Q8VEH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000048964
AA Change: L174P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048428
Gene: ENSMUSG00000039205
AA Change: L174P

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 damaging
Transcript: ENSMUST00000113331
AA Change: L150P

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108957
Gene: ENSMUSG00000039205
AA Change: L150P

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 damaging
Transcript: ENSMUST00000113332
AA Change: L174P

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108958
Gene: ENSMUSG00000039205
AA Change: L174P

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 damaging
Transcript: ENSMUST00000113334
AA Change: L174P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108960
Gene: ENSMUSG00000039205
AA Change: L174P

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 damaging
Transcript: ENSMUST00000113338
AA Change: L174P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108964
Gene: ENSMUSG00000039205
AA Change: L174P

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

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 damaging
Transcript: ENSMUST00000132028
AA Change: L174P

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

SMART Domains

Protein: ENSMUSP00000120295
Gene: ENSMUSG00000039205
AA Change: L174P

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: ENSMUST00000132290

Predicted Effect

probably damaging
Transcript: ENSMUST00000136079
AA Change: L174P

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

SMART Domains

Protein: ENSMUSP00000116812
Gene: ENSMUSG00000039205
AA Change: L174P

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: ENSMUST00000136325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137220

Predicted Effect

unknown
Transcript: ENSMUST00000139637
AA Change: L18P

SMART Domains

Protein: ENSMUSP00000122469
Gene: ENSMUSG00000039205
AA Change: L18P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192055

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 8,992,153	Y45N	probably damaging	Het
Agbl3	T	C	6: 34,798,326	V189A	probably damaging	Het
Akip1	C	A	7: 109,704,986	S90*	probably null	Het
Amn	A	T	12: 111,276,068	D439V	probably benign	Het
Arhgap17	T	A	7: 123,321,603	D149V	probably damaging	Het
Atp6v0a4	A	T	6: 38,092,465	I76N	possibly damaging	Het
Atp6v1h	A	T	1: 5,133,085	N291I	probably damaging	Het
Baiap2l2	G	T	15: 79,259,253	P462T	probably damaging	Het
Bves	C	T	10: 45,354,840		probably null	Het
Cabp7	T	A	11: 4,739,265	K127*	probably null	Het
Cacna1h	A	G	17: 25,393,910	V313A	possibly damaging	Het
Camkk2	T	C	5: 122,753,724	H245R	probably damaging	Het
Celsr1	T	A	15: 85,932,460	S1761C	possibly damaging	Het
Cfap46	T	C	7: 139,627,456	E1849G	possibly damaging	Het
Crim1	G	T	17: 78,303,025	C303F	probably damaging	Het
Cyp26c1	A	G	19: 37,692,937	Q396R	probably damaging	Het
Dnajc7	G	A	11: 100,599,300	P43L	probably damaging	Het
Dpf2	T	C	19: 5,907,012	H16R	probably damaging	Het
Dsp	A	G	13: 38,191,619	T1127A	probably damaging	Het
Dst	T	C	1: 34,201,123	L1525P	probably damaging	Het
Ehf	T	A	2: 103,267,126	D192V	probably damaging	Het
Frem1	G	T	4: 83,020,631	N71K	probably damaging	Het
Furin	T	A	7: 80,393,447	T339S	probably benign	Het
Gad1	T	A	2: 70,600,720	I569N	possibly damaging	Het
Gfi1	T	C	5: 107,723,810	K10R	probably damaging	Het
Gm20775	T	A	Y: 10,641,258		noncoding transcript	Homo
Gpn3	A	C	5: 122,378,575	D89A	possibly damaging	Het
Gpr18	T	A	14: 121,911,678	R312*	probably null	Het
Gsap	T	C	5: 21,246,971		probably benign	Het
H2-Ab1	C	A	17: 34,264,809	T48K	probably damaging	Het
Hmcn2	A	T	2: 31,438,285	N4326I	probably benign	Het
Igkv4-51	A	C	6: 69,681,730		probably benign	Het
Insr	T	C	8: 3,161,709	H1104R	probably benign	Het
Ipo13	A	T	4: 117,901,576	N697K	probably benign	Het
Iqcm	T	G	8: 75,762,989	F362V	probably damaging	Het
Irak4	T	C	15: 94,566,823	S425P	probably damaging	Het
Jakmip2	T	C	18: 43,577,412	E242G	possibly damaging	Het
Kdm4a	T	C	4: 118,144,083	K829R	probably damaging	Het
Kdr	T	C	5: 75,968,792	N145S	possibly damaging	Het
Klra9	A	T	6: 130,185,517	D185E	probably benign	Het
Lcn12	T	C	2: 25,493,321	N15S	probably benign	Het
Mei4	T	A	9: 81,927,317	M151K	probably damaging	Het
Mmp3	T	A	9: 7,451,223	S320T	probably benign	Het
Mrps5	C	G	2: 127,590,770	A37G	probably benign	Het
Mttp	A	G	3: 138,092,735	I800T	possibly damaging	Het
Nags	A	T	11: 102,148,196	Q451L	probably damaging	Het
Nbea	T	C	3: 56,058,065	T476A	probably damaging	Het
Ndufb10	T	C	17: 24,722,419	E145G	possibly damaging	Het
Neb	T	G	2: 52,304,035	S660R	possibly damaging	Het
Nppb	A	G	4: 147,986,296	K43E	probably benign	Het
Nup188	A	T	2: 30,330,633	Q906L	probably benign	Het
Olfr1259	T	C	2: 89,943,869	D82G	probably damaging	Het
Olfr1413	T	C	1: 92,573,330	I53T	possibly damaging	Het
Olfr370	T	A	8: 83,541,860	S239T	probably damaging	Het
Olfr895	C	A	9: 38,269,414	N292K	probably damaging	Het
Ovch2	T	A	7: 107,796,548	I88F	possibly damaging	Het
Palm3	A	G	8: 84,029,935	E692G	probably benign	Het
Pcsk6	T	C	7: 65,983,753	F578L	probably damaging	Het
Piezo2	A	C	18: 63,069,963	D1535E	probably damaging	Het
Ppp1r15b	T	C	1: 133,132,135	V130A	probably benign	Het
Proca1	T	C	11: 78,204,898	Y32H	probably damaging	Het
Prtg	T	A	9: 72,890,798	V682E	probably damaging	Het
Pyroxd1	A	T	6: 142,361,868	M455L	probably benign	Het
Rasa1	T	C	13: 85,226,635	D739G	possibly damaging	Het
Scn3a	T	C	2: 65,464,730	I1550V	possibly damaging	Het
Sepsecs	T	C	5: 52,643,871	D483G	probably benign	Het
Setd7	T	C	3: 51,550,355	D17G	probably damaging	Het
Sipa1l2	C	T	8: 125,491,245	C451Y	probably damaging	Het
Slc31a1	A	G	4: 62,388,702	Y165C	probably damaging	Het
Smg5	T	C	3: 88,342,469	F68L	possibly damaging	Het
Sptbn5	A	G	2: 120,077,208		probably benign	Het
Stk3	A	G	15: 35,114,565	I65T	probably damaging	Het
Tas2r115	C	T	6: 132,737,284	A235T	possibly damaging	Het
Tenm2	C	T	11: 36,049,097	A1400T	probably benign	Het
Tet1	T	A	10: 62,838,791	N1169Y	probably benign	Het
Treml2	T	A	17: 48,309,397		probably null	Het
Tspan11	A	G	6: 127,938,235	E104G	probably damaging	Het
Wdtc1	G	A	4: 133,296,431	A543V	probably damaging	Het
Zfp148	T	A	16: 33,496,819	D578E	probably damaging	Het
Zfp735	A	T	11: 73,711,855	N542Y	probably damaging	Het
Zfp735	A	T	11: 73,711,856	N542I	probably damaging	Het
Zfp869	T	A	8: 69,708,143	E65D	probably benign	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
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
R7574:Ciz1	UTSW	2	32367368	missense	probably benign	0.16
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'- CTGAACCCCTGATATAACCTTGACC -3'
(R):5'- ACAGAGCATGACTGAAGGCC -3'

Sequencing Primer
(F):5'- GACCATTCAATCATGTTATGACCTC -3'
(R):5'- CCAAAGGCCAGGGCAAGC -3'

Posted On

2015-10-21