Mutagenetix > Incidental Mutations

Incidental Mutation 'R0480:Cit'

41914

Institutional Source

Beutler Lab

Gene Symbol

Cit

Ensembl Gene

ENSMUSG00000029516

Gene Name

citron

Synonyms

CRIK-SK, C030025P15Rik, Cit-k, citron-N, citron kinase

MMRRC Submission

038680-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R0480 (G1)

Quality Score

156

Status

Validated

Chromosome

Chromosomal Location

115845278-116008947 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 115933393 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051704] [ENSMUST00000102560] [ENSMUST00000112008] [ENSMUST00000141101]

Predicted Effect

probably benign
Transcript: ENSMUST00000051704

SMART Domains

Protein: ENSMUSP00000062049
Gene: ENSMUSG00000029516

Domain	Start	End	E-Value	Type
S_TKc	97	359	2.92e-89	SMART
S_TK_X	360	422	6.32e-16	SMART
low complexity region	632	646	N/A	INTRINSIC
low complexity region	891	905	N/A	INTRINSIC
low complexity region	915	948	N/A	INTRINSIC
low complexity region	950	968	N/A	INTRINSIC
low complexity region	1068	1081	N/A	INTRINSIC
low complexity region	1138	1156	N/A	INTRINSIC
low complexity region	1182	1203	N/A	INTRINSIC
internal_repeat_1	1243	1282	1.05e-5	PROSPERO
low complexity region	1353	1364	N/A	INTRINSIC
C1	1389	1437	1.97e-9	SMART
PH	1470	1591	1.31e-8	SMART
CNH	1618	1915	1.78e-112	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102560

SMART Domains

Protein: ENSMUSP00000099620
Gene: ENSMUSG00000029516

Domain	Start	End	E-Value	Type
S_TKc	97	359	2.92e-89	SMART
S_TK_X	360	422	6.32e-16	SMART
coiled coil region	452	1244	N/A	INTRINSIC
coiled coil region	1297	1338	N/A	INTRINSIC
low complexity region	1368	1379	N/A	INTRINSIC
C1	1404	1452	1.97e-9	SMART
PH	1485	1606	1.31e-8	SMART
CNH	1633	1930	1.78e-112	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112008

SMART Domains

Protein: ENSMUSP00000107639
Gene: ENSMUSG00000029516

Domain	Start	End	E-Value	Type
S_TKc	97	359	2.92e-89	SMART
S_TK_X	360	422	6.32e-16	SMART
coiled coil region	452	1202	N/A	INTRINSIC
coiled coil region	1255	1296	N/A	INTRINSIC
low complexity region	1326	1337	N/A	INTRINSIC
C1	1362	1410	1.97e-9	SMART
PH	1443	1564	1.31e-8	SMART
CNH	1591	1888	1.78e-112	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139881

Predicted Effect

probably benign
Transcript: ENSMUST00000141101

SMART Domains

Protein: ENSMUSP00000115802
Gene: ENSMUSG00000029516

Domain	Start	End	E-Value	Type
S_TKc	97	359	1.4e-91	SMART
S_TK_X	360	422	3e-18	SMART
low complexity region	632	646	N/A	INTRINSIC
low complexity region	686	698	N/A	INTRINSIC
low complexity region	849	863	N/A	INTRINSIC
low complexity region	873	906	N/A	INTRINSIC
low complexity region	908	926	N/A	INTRINSIC
low complexity region	1026	1039	N/A	INTRINSIC
low complexity region	1096	1114	N/A	INTRINSIC
low complexity region	1140	1161	N/A	INTRINSIC
internal_repeat_1	1201	1240	1.73e-5	PROSPERO
low complexity region	1311	1322	N/A	INTRINSIC
C1	1347	1395	9.7e-12	SMART
PH	1428	1549	6e-11	SMART
CNH	1576	1873	8.6e-115	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147479

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.6%

Validation Efficiency

99% (117/118)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a null mutation are 20% smaller than wild-type and exhibit tremors, ataxia, and fatal seizures. Brains of mutant mice show a 50% size reduction with abnormalities in the hippocampus, cerebellum, and olfactory lobes. Mutant males show aberrant cytokinesis of spermatogenic precursors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,880,186	L165F	probably damaging	Het
Adamts18	A	G	8: 113,738,818	V714A	possibly damaging	Het
Adamtsl1	G	T	4: 86,252,818	A518S	probably benign	Het
Adcy2	C	T	13: 68,732,112	V363M	probably damaging	Het
Ago4	G	T	4: 126,526,077	Q36K	probably benign	Het
Akr1a1	A	G	4: 116,639,847	V172A	possibly damaging	Het
Alkbh2	T	A	5: 114,125,535	N137I	probably damaging	Het
Ank3	T	A	10: 69,879,926	S470T	probably damaging	Het
Ankrd12	T	C	17: 66,049,828	T65A	possibly damaging	Het
Aox1	A	T	1: 58,043,651		probably benign	Het
Arhgap11a	A	T	2: 113,839,818	I320N	probably benign	Het
Arhgap17	G	A	7: 123,294,644	H518Y	probably damaging	Het
Ascc3	T	C	10: 50,735,252	V1563A	probably damaging	Het
Atf2	G	A	2: 73,819,156		probably benign	Het
Bmpr2	C	T	1: 59,845,659	T268I	probably damaging	Het
Bpifb9a	A	G	2: 154,264,688	I380V	probably benign	Het
C2cd2	G	A	16: 97,877,148	T363I	probably benign	Het
Catsperg2	T	G	7: 29,721,298	N190H	probably damaging	Het
Ccdc138	T	C	10: 58,561,967	L543S	probably damaging	Het
Ccdc170	A	T	10: 4,518,939	K162N	probably benign	Het
Cdca5	G	T	19: 6,090,298	R163L	probably damaging	Het
Cdh24	A	G	14: 54,632,597	F239S	probably benign	Het
Cdkl3	T	C	11: 52,005,055	V43A	probably damaging	Het
Cep152	G	T	2: 125,581,719	Q921K	possibly damaging	Het
Cftr	G	A	6: 18,274,518		probably benign	Het
Chmp5	T	C	4: 40,948,690		probably benign	Het
Cngb3	T	A	4: 19,309,517		probably benign	Het
Cnr2	A	G	4: 135,917,601	E330G	probably benign	Het
Cyp21a1	A	T	17: 34,801,826	L473Q	probably damaging	Het
Dchs1	T	C	7: 105,771,489	T575A	probably benign	Het
Dedd2	A	G	7: 25,203,625	V303A	probably damaging	Het
Dmd	G	T	X: 84,425,738	A2370S	probably benign	Het
Dnah10	T	A	5: 124,808,851	N3009K	probably damaging	Het
Dnajc13	G	T	9: 104,200,509	N934K	probably damaging	Het
Dock1	C	T	7: 134,737,718	L106F	probably damaging	Het
Fat3	A	G	9: 15,997,729	Y2326H	probably benign	Het
Fhl5	A	T	4: 25,207,101	C222*	probably null	Het
Gm10639	C	T	9: 78,302,817	A135V	probably benign	Het
Gm1840	A	G	8: 5,639,888		noncoding transcript	Het
Gnmt	T	C	17: 46,725,928	T252A	probably benign	Het
Gtf2f1	A	G	17: 57,004,307		probably null	Het
Gtf3a	T	C	5: 146,953,229	Y187H	probably damaging	Het
Hdac2	A	G	10: 36,974,792	Y14C	probably damaging	Het
Hnrnph1	T	G	11: 50,385,762		probably benign	Het
Homer2	T	C	7: 81,618,603	D92G	possibly damaging	Het
Hspg2	T	C	4: 137,550,024	S2885P	probably damaging	Het
Insr	A	G	8: 3,161,770	S1084P	probably damaging	Het
Ints11	T	A	4: 155,887,624	V362E	probably damaging	Het
Kank2	T	C	9: 21,779,899	N513S	probably damaging	Het
Kdelc1	C	T	1: 44,110,757	W424*	probably null	Het
Kl	T	G	5: 150,953,288	V191G	probably damaging	Het
Krt23	A	G	11: 99,486,698		probably null	Het
Lama3	A	C	18: 12,450,424	T690P	possibly damaging	Het
Lamb1	G	A	12: 31,282,721	A281T	possibly damaging	Het
Lck	T	C	4: 129,555,640	E299G	probably damaging	Het
Lonrf1	A	G	8: 36,222,710	V703A	probably damaging	Het
Ly6f	T	C	15: 75,271,677	C78R	probably damaging	Het
Mapkap1	C	T	2: 34,533,781		probably benign	Het
Mast1	T	A	8: 84,913,089	I1204F	probably damaging	Het
Mbd6	C	T	10: 127,285,873		probably benign	Het
Mef2c	A	T	13: 83,592,901	T60S	probably damaging	Het
Mgat4c	C	T	10: 102,389,119	T398I	probably damaging	Het
Mmp12	C	A	9: 7,350,016	H102Q	probably damaging	Het
Mmp20	G	A	9: 7,645,373	G308E	probably damaging	Het
Mms19	A	T	19: 41,954,846	L395Q	probably damaging	Het
Mus81	A	G	19: 5,487,931		probably benign	Het
Mypn	C	T	10: 63,193,203	R27H	probably benign	Het
Nav3	T	C	10: 109,853,300	E372G	probably damaging	Het
Ncoa1	T	A	12: 4,339,105	I57F	probably damaging	Het
Ncstn	T	C	1: 172,082,592		probably benign	Het
Nefm	C	T	14: 68,124,159	D219N	probably damaging	Het
Notch2	C	T	3: 98,146,537	T2172I	possibly damaging	Het
Obscn	T	A	11: 59,133,946	K423*	probably null	Het
Olfr1164	A	C	2: 88,093,628	S103A	probably benign	Het
Olfr173	T	C	16: 58,797,321	N175S	probably benign	Het
Olfr459	A	T	6: 41,772,264	C12S	probably benign	Het
Olfr606	A	G	7: 103,451,628	N97S	probably benign	Het
Ostm1	T	A	10: 42,696,347	M242K	probably damaging	Het
Oxnad1	T	A	14: 32,099,480	I154N	probably damaging	Het
Pcdhb10	T	A	18: 37,413,099	D409E	probably damaging	Het
Pdcd11	T	C	19: 47,125,037		probably benign	Het
Peak1	C	A	9: 56,258,632	V671L	probably benign	Het
Pex1	G	A	5: 3,606,444		probably null	Het
Plk4	T	A	3: 40,805,640	F324I	probably benign	Het
Ppfibp1	C	A	6: 147,019,031		probably null	Het
Prcp	T	A	7: 92,919,082	W276R	probably damaging	Het
Prr14l	T	C	5: 32,829,880	E757G	probably benign	Het
Prss52	T	A	14: 64,113,644	Y293N	probably damaging	Het
Prune2	A	G	19: 17,006,792		probably benign	Het
Ptprk	G	C	10: 28,585,947	A84P	probably damaging	Het
Ptprk	C	T	10: 28,585,948	A84V	probably damaging	Het
Rock1	A	G	18: 10,079,120	L1116P	possibly damaging	Het
Sdha	A	T	13: 74,327,333	F526Y	probably benign	Het
Sema4b	T	C	7: 80,220,206	F414S	probably damaging	Het
Serpina12	T	C	12: 104,035,701	D252G	probably damaging	Het
Siglecg	C	T	7: 43,411,126	A310V	probably benign	Het
Slc30a8	A	G	15: 52,325,570	I194V	probably benign	Het
Spred3	A	G	7: 29,162,975	S148P	probably damaging	Het
Taf9b	A	G	X: 106,218,408	S58P	probably damaging	Het
Tgm4	A	T	9: 123,062,419	Y109F	probably benign	Het
Tmprss11c	T	G	5: 86,237,609		probably benign	Het
Tmtc3	A	T	10: 100,471,404	V246D	probably damaging	Het
Tnip1	C	T	11: 54,937,994	G116R	probably damaging	Het
Tpr	A	G	1: 150,428,241	E1455G	possibly damaging	Het
Ttc3	T	A	16: 94,432,004	L986*	probably null	Het
Txndc15	A	G	13: 55,724,623	I275V	possibly damaging	Het
Ugt2b1	T	A	5: 86,926,456	I15L	probably benign	Het
Upf2	T	C	2: 5,957,634	V49A	possibly damaging	Het
Vmn1r117	G	A	7: 20,883,446	P226S	probably benign	Het
Vmn2r28	A	T	7: 5,490,457	H163Q	probably benign	Het
Vstm2a	T	A	11: 16,263,240	S208R	probably damaging	Het
Zfp346	T	A	13: 55,113,097	C79*	probably null	Het
Zfp628	A	T	7: 4,921,616	T946S	probably benign	Het

Other mutations in Cit

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Cit	APN	5	115846465	missense	probably damaging	0.99
IGL00482:Cit	APN	5	115938755	missense	probably damaging	0.97
IGL01317:Cit	APN	5	115908716	missense	probably benign	0.03
IGL01335:Cit	APN	5	115908830	splice site	probably benign
IGL01415:Cit	APN	5	115941903	missense	possibly damaging	0.78
IGL01447:Cit	APN	5	115873843	splice site	probably benign
IGL01537:Cit	APN	5	115933854	missense	probably benign	0.00
IGL01621:Cit	APN	5	115992603	splice site	probably benign
IGL02010:Cit	APN	5	115875947	missense	probably damaging	1.00
IGL02538:Cit	APN	5	115986989	nonsense	probably null
IGL02607:Cit	APN	5	115859209	missense	probably benign
IGL02720:Cit	APN	5	115995452	missense	probably benign	0.26
IGL02725:Cit	APN	5	115985473	missense	probably benign	0.02
IGL02967:Cit	APN	5	115945837	missense	probably benign	0.11
IGL02973:Cit	APN	5	116005999	missense	possibly damaging	0.73
IGL03383:Cit	APN	5	115873845	splice site	probably benign
PIT4514001:Cit	UTSW	5	115997854	critical splice donor site	probably null
R0206:Cit	UTSW	5	115994030	missense	possibly damaging	0.72
R0206:Cit	UTSW	5	115994030	missense	possibly damaging	0.72
R0226:Cit	UTSW	5	115984840	missense	probably damaging	0.99
R0320:Cit	UTSW	5	115979445	missense	possibly damaging	0.87
R0401:Cit	UTSW	5	115985479	missense	probably benign	0.06
R0609:Cit	UTSW	5	115873943	missense	probably damaging	0.98
R0737:Cit	UTSW	5	115946919	missense	probably damaging	1.00
R1238:Cit	UTSW	5	115851221	missense	probably benign	0.30
R1503:Cit	UTSW	5	115873900	missense	possibly damaging	0.94
R1551:Cit	UTSW	5	115945842	missense	probably benign	0.00
R1602:Cit	UTSW	5	115997730	missense	probably damaging	1.00
R1720:Cit	UTSW	5	115967897	missense	probably damaging	0.98
R1854:Cit	UTSW	5	115873901	missense	probably damaging	1.00
R1886:Cit	UTSW	5	115933486	missense	probably damaging	1.00
R2024:Cit	UTSW	5	115947924	missense	probably damaging	0.97
R2024:Cit	UTSW	5	116005840	missense	probably damaging	0.97
R2048:Cit	UTSW	5	115886813	splice site	probably null
R2128:Cit	UTSW	5	115985507	missense	possibly damaging	0.63
R2192:Cit	UTSW	5	115968009	missense	probably benign	0.00
R2244:Cit	UTSW	5	115926505	missense	probably damaging	1.00
R2518:Cit	UTSW	5	115987046	missense	probably damaging	0.99
R2679:Cit	UTSW	5	115969115	missense	probably benign	0.00
R2898:Cit	UTSW	5	115873978	unclassified	probably null
R2908:Cit	UTSW	5	115981676	missense	probably benign	0.00
R3079:Cit	UTSW	5	115925486	missense	probably damaging	0.97
R3779:Cit	UTSW	5	115859341	missense	probably benign	0.01
R4081:Cit	UTSW	5	115948050	missense	probably damaging	1.00
R4494:Cit	UTSW	5	115873984	missense	probably damaging	1.00
R4610:Cit	UTSW	5	115994087	missense	probably benign	0.01
R4757:Cit	UTSW	5	115997549	missense	probably damaging	1.00
R4788:Cit	UTSW	5	115933506	missense	probably damaging	1.00
R4816:Cit	UTSW	5	115908691	missense	probably damaging	1.00
R4890:Cit	UTSW	5	115988123	intron	probably benign
R4899:Cit	UTSW	5	115863028	missense	possibly damaging	0.60
R4928:Cit	UTSW	5	115985797	missense	probably benign	0.00
R5073:Cit	UTSW	5	115946843	missense	probably benign	0.24
R5151:Cit	UTSW	5	115979835	missense	probably damaging	1.00
R5154:Cit	UTSW	5	115988405	missense	probably damaging	1.00
R5222:Cit	UTSW	5	115952543	missense	probably benign	0.03
R5814:Cit	UTSW	5	115979419	missense	probably damaging	1.00
R5935:Cit	UTSW	5	115925539	intron	probably benign
R5946:Cit	UTSW	5	115997534	missense	probably damaging	1.00
R6051:Cit	UTSW	5	115846405	missense	probably benign
R6289:Cit	UTSW	5	116006326	makesense	probably null
R6298:Cit	UTSW	5	115948065	missense	probably damaging	1.00
R6362:Cit	UTSW	5	115886676	missense	probably benign	0.01
R6545:Cit	UTSW	5	115846434	missense	probably null	0.00
R6761:Cit	UTSW	5	115908675	missense	probably damaging	1.00
R6798:Cit	UTSW	5	115926526	missense	possibly damaging	0.56
R6814:Cit	UTSW	5	115884963	missense	probably damaging	1.00
R6825:Cit	UTSW	5	115981774	missense	probably damaging	0.99
R6845:Cit	UTSW	5	115984888	missense	probably damaging	1.00
R6983:Cit	UTSW	5	115994091	missense	probably damaging	1.00
R7164:Cit	UTSW	5	115985787	missense	possibly damaging	0.94
R7359:Cit	UTSW	5	115926574	missense	probably damaging	1.00
R7597:Cit	UTSW	5	115886681	nonsense	probably null
R7729:Cit	UTSW	5	115984822	missense	possibly damaging	0.87
R7763:Cit	UTSW	5	115987001	missense	probably benign	0.01
R7786:Cit	UTSW	5	115863018	missense	probably benign	0.00
R7799:Cit	UTSW	5	115862968	missense	probably benign	0.00
Z1088:Cit	UTSW	5	115985533	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- GCCTTTTGCTCGAAGCGTCTGATTC -3'
(R):5'- CAGTTTGTGCTGACATTCGTTTGCC -3'

Sequencing Primer
(F):5'- AATGTTCTCTCcccccgc -3'
(R):5'- GACATTCGTTTGCCTTCCG -3'

Posted On

2013-05-23