Mutagenetix > Incidental Mutation

Incidental Mutation 'R5073:Cit'

388965

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

042662-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R5073 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115845278-116008947 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115946843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 811 (M811K)

Ref Sequence

ENSEMBL: ENSMUSP00000099620 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051704
AA Change: M811K

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000062049
Gene: ENSMUSG00000029516
AA Change: M811K

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
AA Change: M811K

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099620
Gene: ENSMUSG00000029516
AA Change: M811K

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
AA Change: M769K

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107639
Gene: ENSMUSG00000029516
AA Change: M769K

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: ENSMUST00000122877

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139881

Predicted Effect

probably benign
Transcript: ENSMUST00000141101
AA Change: M769K

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115802
Gene: ENSMUSG00000029516
AA Change: M769K

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

0.1254

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

100% (113/113)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,374,300	R224C	probably damaging	Het
Adcy8	A	T	15: 64,787,358	W528R	probably damaging	Het
Agbl5	G	A	5: 30,903,059	R141Q	probably damaging	Het
Ahnak	T	A	19: 9,003,231	H626Q	probably benign	Het
Ampd2	A	T	3: 108,079,233	M245K	probably damaging	Het
Apob	G	A	12: 8,005,219		probably null	Het
Apool	C	T	X: 112,349,843	Q60*	probably null	Het
Aqp1	A	T	6: 55,345,535	I172F	probably damaging	Het
Atp7a	A	G	X: 106,109,768	D1092G	probably benign	Het
Bcas3	A	G	11: 85,371,132	Y110C	probably damaging	Het
Brpf1	T	C	6: 113,310,254	S148P	probably damaging	Het
Capn3	A	G	2: 120,491,820	H339R	probably damaging	Het
Ccdc141	A	T	2: 77,124,378		probably null	Het
Ccl2	A	G	11: 82,037,158		probably benign	Het
Cct8l1	G	A	5: 25,516,883	V199I	probably benign	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Crim1	T	C	17: 78,281,347	C284R	possibly damaging	Het
Cyp2d10	C	T	15: 82,403,753	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,247,663	T123A	probably benign	Het
Dbndd2	A	G	2: 164,490,304		probably benign	Het
Dnaja3	A	T	16: 4,696,425	T274S	probably damaging	Het
Dot1l	A	G	10: 80,784,646	D514G	possibly damaging	Het
Dysf	A	T	6: 84,137,272	K1226M	probably damaging	Het
Eef1akmt1	A	G	14: 57,566,007	L30P	probably damaging	Het
Elavl1	A	G	8: 4,301,741	M125T	possibly damaging	Het
Eml4	C	A	17: 83,463,577	S723R	probably damaging	Het
Fgf15	A	C	7: 144,896,839	Y54S	possibly damaging	Het
Fign	A	T	2: 63,979,693	L411*	probably null	Het
Flt1	C	A	5: 147,683,939	A132S	probably benign	Het
Fryl	G	A	5: 73,074,767	P1550L	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gprasp2	C	T	X: 135,842,597	T235I	possibly damaging	Het
H2afb3	T	C	X: 120,312,846	T84A	probably damaging	Het
Hal	A	T	10: 93,514,042	I555F	probably damaging	Het
Hdac6	A	G	X: 7,944,797	F104L	probably damaging	Het
Hibadh	C	T	6: 52,620,094	V122M	possibly damaging	Het
Hmga1b	C	T	11: 120,763,186	Q100*	probably null	Het
Hydin	A	G	8: 110,538,473	N2763D	probably benign	Het
Ifi47	A	G	11: 49,095,534	T43A	probably benign	Het
Ifnlr1	A	G	4: 135,705,146	T298A	probably benign	Het
Impdh2	G	A	9: 108,563,336		probably null	Het
Insr	A	G	8: 3,159,475	F1203L	probably damaging	Het
Kcnq4	A	G	4: 120,717,517	S117P	probably damaging	Het
Kif19a	G	A	11: 114,767,227	M37I	probably benign	Het
Kif1a	T	C	1: 93,022,505	H1400R	probably damaging	Het
Kiss1r	C	A	10: 79,918,762	S30*	probably null	Het
Krt222	T	A	11: 99,243,970		probably benign	Het
Lekr1	A	T	3: 65,819,794		noncoding transcript	Het
Ltn1	A	G	16: 87,427,740	V32A	probably damaging	Het
March1	T	A	8: 66,386,368	W21R	probably benign	Het
March5	A	G	19: 37,210,808	N58S	possibly damaging	Het
Mast4	G	A	13: 102,738,883	Q1158*	probably null	Het
Mib2	C	G	4: 155,656,776	A535P	probably damaging	Het
Mkl1	A	G	15: 81,022,426	V91A	probably damaging	Het
Msc	C	T	1: 14,754,313	V178M	probably benign	Het
Muc4	C	A	16: 32,754,529	H1468N	probably benign	Het
Muc5b	A	T	7: 141,859,262	T1982S	unknown	Het
Mvk	A	T	5: 114,452,952		probably benign	Het
Myo1a	T	C	10: 127,707,419		probably null	Het
Myo6	T	G	9: 80,288,008	S887A	probably benign	Het
Myo7a	G	A	7: 98,073,218	Q1167*	probably null	Het
Ncald	A	T	15: 37,397,234	H67Q	probably damaging	Het
Nmnat1	C	A	4: 149,469,138	M172I	probably benign	Het
Nudt1	G	T	5: 140,331,907		probably null	Het
Nudt5	T	A	2: 5,864,387	H141Q	probably benign	Het
Olfr1100	A	T	2: 86,978,322	V158D	possibly damaging	Het
Olfr1508	T	A	14: 52,463,575	M118L	probably damaging	Het
Olfr24	T	C	9: 18,754,822	E271G	possibly damaging	Het
Parp14	A	T	16: 35,834,707	I1798K	probably damaging	Het
Pcdhga7	A	G	18: 37,715,972	D344G	probably damaging	Het
Pck1	A	G	2: 173,156,977	T343A	probably benign	Het
Pik3c2g	T	A	6: 139,720,147	C65S	probably null	Het
Pilra	A	G	5: 137,835,412	F131L	probably damaging	Het
Ppl	A	T	16: 5,088,878	S1184R	probably benign	Het
Prmt2	C	T	10: 76,222,556	V140I	probably damaging	Het
Prpf38b	A	G	3: 108,911,168	F92S	probably damaging	Het
Psmc3	A	G	2: 91,054,570		probably benign	Het
Ptgs1	A	T	2: 36,251,260	N573I	probably damaging	Het
Rgs9	C	A	11: 109,227,331	A332S	probably benign	Het
Rptor	T	C	11: 119,896,479	I1290T	possibly damaging	Het
Slc38a7	C	A	8: 95,841,650	R369L	probably damaging	Het
Slc4a2	G	A	5: 24,438,762	S855N	probably benign	Het
Slco2a1	G	T	9: 103,046,726	L46F	probably damaging	Het
Snrpd3	G	T	10: 75,519,393	C20F	possibly damaging	Het
Stab2	A	T	10: 86,863,558	I481N	probably benign	Het
Tbc1d9	A	G	8: 83,233,547	E143G	probably damaging	Het
Tenm2	T	A	11: 36,068,381	T1114S	probably damaging	Het
Tg	A	C	15: 66,735,252	M213L	probably benign	Het
Tnc	A	G	4: 64,020,411	C64R	probably damaging	Het
Tpd52l1	A	G	10: 31,357,920	L79S	probably damaging	Het
Tpp2	C	A	1: 43,954,736	S260R	possibly damaging	Het
Tppp2	G	A	14: 51,920,455	R119Q	probably benign	Het
Tshz2	A	T	2: 169,962,573		probably benign	Het
Tuba8	T	C	6: 121,222,903	V182A	probably damaging	Het
Ufl1	A	G	4: 25,254,780	Y559H	probably benign	Het
Usp53	A	T	3: 122,933,946	S996T	probably benign	Het
Vcam1	A	G	3: 116,124,388	V308A	probably damaging	Het
Wdr17	T	A	8: 54,690,236		probably null	Het
Wdr6	G	A	9: 108,574,366	H773Y	probably damaging	Het
Wnk4	T	G	11: 101,261,188	F173V	probably damaging	Het
Xrcc5	T	C	1: 72,339,029	Y395H	probably damaging	Het
Zcwpw1	T	A	5: 137,795,519	M1K	probably null	Het
Zfp263	A	G	16: 3,746,840	R240G	possibly damaging	Het
Zfp652	A	G	11: 95,750,064	I272V	possibly damaging	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
R0480:Cit	UTSW	5	115933393	splice site	probably benign
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	splice site	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
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
R8060:Cit	UTSW	5	115908727	missense	probably benign	0.00
R8068:Cit	UTSW	5	115952466	missense	probably damaging	1.00
R8068:Cit	UTSW	5	115982235	missense	probably benign	0.03
R8122:Cit	UTSW	5	115969010	missense	probably damaging	1.00
R8177:Cit	UTSW	5	115988159	missense	probably benign	0.18
R8178:Cit	UTSW	5	115969072	missense	probably damaging	1.00
R8265:Cit	UTSW	5	115988177	missense	probably damaging	1.00
R8359:Cit	UTSW	5	115984544	splice site	probably null
R8397:Cit	UTSW	5	115886797	missense	probably benign
R8489:Cit	UTSW	5	115945903	critical splice donor site	probably null
R8784:Cit	UTSW	5	115846383	nonsense	probably null
R8798:Cit	UTSW	5	115969043	missense	probably damaging	0.99
R8882:Cit	UTSW	5	115863030	missense	probably benign	0.04
R8984:Cit	UTSW	5	115926475	missense	possibly damaging	0.86
R9091:Cit	UTSW	5	115846102	intron	probably benign
R9127:Cit	UTSW	5	115936837	nonsense	probably null
R9204:Cit	UTSW	5	115988439	missense	probably damaging	0.99
R9212:Cit	UTSW	5	115875893	missense	possibly damaging	0.75
R9279:Cit	UTSW	5	115927911	missense	probably damaging	1.00
R9288:Cit	UTSW	5	115985453	missense	probably damaging	1.00
R9377:Cit	UTSW	5	115946855	missense	probably benign	0.04
R9520:Cit	UTSW	5	115941895	nonsense	probably null
Z1088:Cit	UTSW	5	115985533	missense	possibly damaging	0.62
Z1176:Cit	UTSW	5	115986603	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGACCCTGGTTTCCGTTGG -3'
(R):5'- AGTTAGGACTCCCACCAGAC -3'

Sequencing Primer
(F):5'- TTCCGTTGGAAAAACAGCTG -3'
(R):5'- GTTAGGACTCCCACCAGACAAAAG -3'

Posted On

2016-06-06