Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02720:Cit'

304967

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cit

Ensembl Gene

ENSMUSG00000029516

Gene Name

citron

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

IGL02720

Quality Score

Status

Chromosome

Chromosomal Location

115983337-116147006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116133511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 1867 (S1867G)

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: S1852G

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000062049
Gene: ENSMUSG00000029516
AA Change: S1852G

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: S1867G

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099620
Gene: ENSMUSG00000029516
AA Change: S1867G

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: S1825G

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107639
Gene: ENSMUSG00000029516
AA Change: S1825G

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

probably benign
Transcript: ENSMUST00000123736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134609

Predicted Effect

probably benign
Transcript: ENSMUST00000141101
AA Change: S1810G

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115802
Gene: ENSMUSG00000029516
AA Change: S1810G

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

Coding Region Coverage

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,122,702 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,726,991 (GRCm39)	S454P	probably damaging	Het
Adh4	A	T	3: 138,124,981 (GRCm39)	I51F	possibly damaging	Het
Amigo2	A	T	15: 97,143,578 (GRCm39)	C281*	probably null	Het
Btn2a2	C	T	13: 23,664,637 (GRCm39)	R307Q	probably benign	Het
C2cd6	T	C	1: 59,090,307 (GRCm39)	I483M	probably damaging	Het
Capn9	T	C	8: 125,327,236 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,744,867 (GRCm39)	K1279E	probably damaging	Het
Cdadc1	T	C	14: 59,823,496 (GRCm39)	Y332C	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cep112	T	G	11: 108,750,177 (GRCm39)	F893L	probably damaging	Het
Clptm1l	T	C	13: 73,762,721 (GRCm39)		probably benign	Het
Cyp4a12b	A	T	4: 115,292,368 (GRCm39)		probably benign	Het
Dlx3	G	T	11: 95,014,470 (GRCm39)	W251L	possibly damaging	Het
Dnah1	C	T	14: 30,984,177 (GRCm39)	V3993M	probably damaging	Het
Efs	A	T	14: 55,157,172 (GRCm39)	Y380N	probably damaging	Het
Fam53c	T	A	18: 34,903,720 (GRCm39)	W331R	probably damaging	Het
Gm5414	T	C	15: 101,533,990 (GRCm39)	E331G	probably damaging	Het
Gstcd	A	G	3: 132,777,722 (GRCm39)	V363A	probably benign	Het
Jak1	A	G	4: 101,021,647 (GRCm39)		probably benign	Het
Kifc3	A	G	8: 95,834,993 (GRCm39)	V264A	probably benign	Het
Mapk8ip2	A	G	15: 89,341,785 (GRCm39)	D332G	probably damaging	Het
Nbeal1	G	A	1: 60,323,146 (GRCm39)	E2075K	probably damaging	Het
Opn5	T	G	17: 42,907,517 (GRCm39)	S120R	probably damaging	Het
Or52m2	C	T	7: 102,264,046 (GRCm39)	G50E	probably damaging	Het
Paqr8	C	T	1: 21,005,733 (GRCm39)	Q296*	probably null	Het
Pcsk6	C	T	7: 65,629,995 (GRCm39)	R374*	probably null	Het
Pld1	A	G	3: 28,141,411 (GRCm39)	H469R	probably damaging	Het
Rbl1	A	G	2: 157,041,349 (GRCm39)	S93P	possibly damaging	Het
Reln	C	T	5: 22,202,939 (GRCm39)	R1287Q	probably damaging	Het
Rev3l	C	T	10: 39,698,391 (GRCm39)	R963*	probably null	Het
Serinc4	C	T	2: 121,282,908 (GRCm39)	S418N	probably benign	Het
Slc6a18	A	G	13: 73,818,087 (GRCm39)	M310T	probably benign	Het
Slitrk3	T	A	3: 72,958,101 (GRCm39)	S224C	probably damaging	Het
Slu7	T	C	11: 43,336,030 (GRCm39)	I471T	probably benign	Het
Stxbp5	A	G	10: 9,665,105 (GRCm39)		probably null	Het
Tm7sf3	A	T	6: 146,514,872 (GRCm39)		probably benign	Het
Trem1	C	T	17: 48,539,869 (GRCm39)	S16L	probably benign	Het
Trp53bp2	T	A	1: 182,281,289 (GRCm39)	D963E	probably benign	Het
Trp63	A	T	16: 25,682,491 (GRCm39)	D184V	probably damaging	Het
Ttll6	T	C	11: 96,042,899 (GRCm39)		probably null	Het
Usp32	A	G	11: 84,897,817 (GRCm39)		probably null	Het
Vmn2r14	A	T	5: 109,369,305 (GRCm39)	N89K	probably damaging	Het
Vmn2r76	T	C	7: 85,874,914 (GRCm39)	R688G	probably benign	Het
Vmn2r93	A	T	17: 18,525,296 (GRCm39)	H318L	probably damaging	Het
Vstm4	A	G	14: 32,585,574 (GRCm39)	H47R	probably damaging	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het
Ybx2	T	A	11: 69,831,157 (GRCm39)	S56T	probably benign	Het
Ybx2	C	A	11: 69,831,158 (GRCm39)	S251Y	probably benign	Het
Zbtb3	T	C	19: 8,781,578 (GRCm39)		probably null	Het

Other mutations in Cit

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Cit	APN	5	115,984,524 (GRCm39)	missense	probably damaging	0.99
IGL00482:Cit	APN	5	116,076,814 (GRCm39)	missense	probably damaging	0.97
IGL01317:Cit	APN	5	116,046,775 (GRCm39)	missense	probably benign	0.03
IGL01335:Cit	APN	5	116,046,889 (GRCm39)	splice site	probably benign
IGL01415:Cit	APN	5	116,079,962 (GRCm39)	missense	possibly damaging	0.78
IGL01447:Cit	APN	5	116,011,902 (GRCm39)	splice site	probably benign
IGL01537:Cit	APN	5	116,071,913 (GRCm39)	missense	probably benign	0.00
IGL01621:Cit	APN	5	116,130,662 (GRCm39)	splice site	probably benign
IGL02010:Cit	APN	5	116,014,006 (GRCm39)	missense	probably damaging	1.00
IGL02538:Cit	APN	5	116,125,048 (GRCm39)	nonsense	probably null
IGL02607:Cit	APN	5	115,997,268 (GRCm39)	missense	probably benign
IGL02725:Cit	APN	5	116,123,532 (GRCm39)	missense	probably benign	0.02
IGL02967:Cit	APN	5	116,083,896 (GRCm39)	missense	probably benign	0.11
IGL02973:Cit	APN	5	116,144,058 (GRCm39)	missense	possibly damaging	0.73
IGL03383:Cit	APN	5	116,011,904 (GRCm39)	splice site	probably benign
PIT4514001:Cit	UTSW	5	116,135,913 (GRCm39)	critical splice donor site	probably null
R0206:Cit	UTSW	5	116,132,089 (GRCm39)	missense	possibly damaging	0.72
R0206:Cit	UTSW	5	116,132,089 (GRCm39)	missense	possibly damaging	0.72
R0226:Cit	UTSW	5	116,122,899 (GRCm39)	missense	probably damaging	0.99
R0320:Cit	UTSW	5	116,117,504 (GRCm39)	missense	possibly damaging	0.87
R0401:Cit	UTSW	5	116,123,538 (GRCm39)	missense	probably benign	0.06
R0480:Cit	UTSW	5	116,071,452 (GRCm39)	splice site	probably benign
R0609:Cit	UTSW	5	116,012,002 (GRCm39)	missense	probably damaging	0.98
R0737:Cit	UTSW	5	116,084,978 (GRCm39)	missense	probably damaging	1.00
R1238:Cit	UTSW	5	115,989,280 (GRCm39)	missense	probably benign	0.30
R1503:Cit	UTSW	5	116,011,959 (GRCm39)	missense	possibly damaging	0.94
R1551:Cit	UTSW	5	116,083,901 (GRCm39)	missense	probably benign	0.00
R1602:Cit	UTSW	5	116,135,789 (GRCm39)	missense	probably damaging	1.00
R1720:Cit	UTSW	5	116,105,956 (GRCm39)	missense	probably damaging	0.98
R1854:Cit	UTSW	5	116,011,960 (GRCm39)	missense	probably damaging	1.00
R1886:Cit	UTSW	5	116,071,545 (GRCm39)	missense	probably damaging	1.00
R2024:Cit	UTSW	5	116,143,899 (GRCm39)	missense	probably damaging	0.97
R2024:Cit	UTSW	5	116,085,983 (GRCm39)	missense	probably damaging	0.97
R2048:Cit	UTSW	5	116,024,872 (GRCm39)	splice site	probably null
R2128:Cit	UTSW	5	116,123,566 (GRCm39)	missense	possibly damaging	0.63
R2192:Cit	UTSW	5	116,106,068 (GRCm39)	missense	probably benign	0.00
R2244:Cit	UTSW	5	116,064,564 (GRCm39)	missense	probably damaging	1.00
R2518:Cit	UTSW	5	116,125,105 (GRCm39)	missense	probably damaging	0.99
R2679:Cit	UTSW	5	116,107,174 (GRCm39)	missense	probably benign	0.00
R2898:Cit	UTSW	5	116,012,037 (GRCm39)	splice site	probably null
R2908:Cit	UTSW	5	116,119,735 (GRCm39)	missense	probably benign	0.00
R3079:Cit	UTSW	5	116,063,545 (GRCm39)	missense	probably damaging	0.97
R3779:Cit	UTSW	5	115,997,400 (GRCm39)	missense	probably benign	0.01
R4081:Cit	UTSW	5	116,086,109 (GRCm39)	missense	probably damaging	1.00
R4494:Cit	UTSW	5	116,012,043 (GRCm39)	missense	probably damaging	1.00
R4610:Cit	UTSW	5	116,132,146 (GRCm39)	missense	probably benign	0.01
R4757:Cit	UTSW	5	116,135,608 (GRCm39)	missense	probably damaging	1.00
R4788:Cit	UTSW	5	116,071,565 (GRCm39)	missense	probably damaging	1.00
R4816:Cit	UTSW	5	116,046,750 (GRCm39)	missense	probably damaging	1.00
R4890:Cit	UTSW	5	116,126,182 (GRCm39)	intron	probably benign
R4899:Cit	UTSW	5	116,001,087 (GRCm39)	missense	possibly damaging	0.60
R4928:Cit	UTSW	5	116,123,856 (GRCm39)	missense	probably benign	0.00
R5073:Cit	UTSW	5	116,084,902 (GRCm39)	missense	probably benign	0.24
R5151:Cit	UTSW	5	116,117,894 (GRCm39)	missense	probably damaging	1.00
R5154:Cit	UTSW	5	116,126,464 (GRCm39)	missense	probably damaging	1.00
R5222:Cit	UTSW	5	116,090,602 (GRCm39)	missense	probably benign	0.03
R5814:Cit	UTSW	5	116,117,478 (GRCm39)	missense	probably damaging	1.00
R5935:Cit	UTSW	5	116,063,598 (GRCm39)	intron	probably benign
R5946:Cit	UTSW	5	116,135,593 (GRCm39)	missense	probably damaging	1.00
R6051:Cit	UTSW	5	115,984,464 (GRCm39)	missense	probably benign
R6289:Cit	UTSW	5	116,144,385 (GRCm39)	makesense	probably null
R6298:Cit	UTSW	5	116,086,124 (GRCm39)	missense	probably damaging	1.00
R6362:Cit	UTSW	5	116,024,735 (GRCm39)	missense	probably benign	0.01
R6545:Cit	UTSW	5	115,984,493 (GRCm39)	missense	probably null	0.00
R6761:Cit	UTSW	5	116,046,734 (GRCm39)	missense	probably damaging	1.00
R6798:Cit	UTSW	5	116,064,585 (GRCm39)	missense	possibly damaging	0.56
R6814:Cit	UTSW	5	116,023,022 (GRCm39)	missense	probably damaging	1.00
R6825:Cit	UTSW	5	116,119,833 (GRCm39)	missense	probably damaging	0.99
R6845:Cit	UTSW	5	116,122,947 (GRCm39)	missense	probably damaging	1.00
R6983:Cit	UTSW	5	116,132,150 (GRCm39)	missense	probably damaging	1.00
R7164:Cit	UTSW	5	116,123,846 (GRCm39)	missense	possibly damaging	0.94
R7359:Cit	UTSW	5	116,064,633 (GRCm39)	missense	probably damaging	1.00
R7597:Cit	UTSW	5	116,024,740 (GRCm39)	nonsense	probably null
R7729:Cit	UTSW	5	116,122,881 (GRCm39)	missense	possibly damaging	0.87
R7763:Cit	UTSW	5	116,125,060 (GRCm39)	missense	probably benign	0.01
R7786:Cit	UTSW	5	116,001,077 (GRCm39)	missense	probably benign	0.00
R7799:Cit	UTSW	5	116,001,027 (GRCm39)	missense	probably benign	0.00
R8060:Cit	UTSW	5	116,046,786 (GRCm39)	missense	probably benign	0.00
R8068:Cit	UTSW	5	116,120,294 (GRCm39)	missense	probably benign	0.03
R8068:Cit	UTSW	5	116,090,525 (GRCm39)	missense	probably damaging	1.00
R8122:Cit	UTSW	5	116,107,069 (GRCm39)	missense	probably damaging	1.00
R8177:Cit	UTSW	5	116,126,218 (GRCm39)	missense	probably benign	0.18
R8178:Cit	UTSW	5	116,107,131 (GRCm39)	missense	probably damaging	1.00
R8265:Cit	UTSW	5	116,126,236 (GRCm39)	missense	probably damaging	1.00
R8359:Cit	UTSW	5	116,122,603 (GRCm39)	splice site	probably null
R8397:Cit	UTSW	5	116,024,856 (GRCm39)	missense	probably benign
R8489:Cit	UTSW	5	116,083,962 (GRCm39)	critical splice donor site	probably null
R8784:Cit	UTSW	5	115,984,442 (GRCm39)	nonsense	probably null
R8798:Cit	UTSW	5	116,107,102 (GRCm39)	missense	probably damaging	0.99
R8882:Cit	UTSW	5	116,001,089 (GRCm39)	missense	probably benign	0.04
R8984:Cit	UTSW	5	116,064,534 (GRCm39)	missense	possibly damaging	0.86
R9091:Cit	UTSW	5	115,984,161 (GRCm39)	intron	probably benign
R9127:Cit	UTSW	5	116,074,896 (GRCm39)	nonsense	probably null
R9204:Cit	UTSW	5	116,126,498 (GRCm39)	missense	probably damaging	0.99
R9212:Cit	UTSW	5	116,013,952 (GRCm39)	missense	possibly damaging	0.75
R9279:Cit	UTSW	5	116,065,970 (GRCm39)	missense	probably damaging	1.00
R9288:Cit	UTSW	5	116,123,512 (GRCm39)	missense	probably damaging	1.00
R9377:Cit	UTSW	5	116,084,914 (GRCm39)	missense	probably benign	0.04
R9520:Cit	UTSW	5	116,079,954 (GRCm39)	nonsense	probably null
Z1088:Cit	UTSW	5	116,123,592 (GRCm39)	missense	possibly damaging	0.62
Z1176:Cit	UTSW	5	116,124,662 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16