Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02538:Cit'

297597

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: 0.952) question?

Stock #

IGL02538

Quality Score

Status

Chromosome

Chromosomal Location

115983337-116147006 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 116125048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1536 (Q1536*)

Ref Sequence

ENSEMBL: ENSMUSP00000115802 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000051704
AA Change: Q1578*

SMART Domains

Protein: ENSMUSP00000062049
Gene: ENSMUSG00000029516
AA Change: Q1578*

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 null
Transcript: ENSMUST00000102560
AA Change: Q1593*

SMART Domains

Protein: ENSMUSP00000099620
Gene: ENSMUSG00000029516
AA Change: Q1593*

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 null
Transcript: ENSMUST00000112008
AA Change: Q1551*

SMART Domains

Protein: ENSMUSP00000107639
Gene: ENSMUSG00000029516
AA Change: Q1551*

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 null
Transcript: ENSMUST00000141101
AA Change: Q1536*

SMART Domains

Protein: ENSMUSP00000115802
Gene: ENSMUSG00000029516
AA Change: Q1536*

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: ENSMUST00000147479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145363

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,136,949 (GRCm39)	I171L	possibly damaging	Het
Amdhd1	C	T	10: 93,363,108 (GRCm39)	V327I	probably damaging	Het
Ankrd1	T	C	19: 36,092,456 (GRCm39)	H257R	probably damaging	Het
Ano5	G	A	7: 51,233,523 (GRCm39)	R595H	probably damaging	Het
Atg2a	A	G	19: 6,307,658 (GRCm39)	T1531A	probably benign	Het
Bsn	A	G	9: 107,982,435 (GRCm39)	S1001P	unknown	Het
Btn1a1	T	C	13: 23,643,385 (GRCm39)	T355A	possibly damaging	Het
Cd22	G	T	7: 30,576,985 (GRCm39)	N107K	probably benign	Het
Ceacam10	A	G	7: 24,477,908 (GRCm39)	H141R	probably damaging	Het
Chil3	T	C	3: 106,071,445 (GRCm39)	D73G	probably damaging	Het
Dmgdh	T	A	13: 93,845,261 (GRCm39)	I418K	possibly damaging	Het
Efcab6	T	A	15: 83,938,722 (GRCm39)		probably benign	Het
Eif4g2	T	C	7: 110,678,523 (GRCm39)	I110V	probably benign	Het
Fam217a	T	C	13: 35,095,096 (GRCm39)	Y221C	probably damaging	Het
Fezf1	T	A	6: 23,246,557 (GRCm39)	K342N	probably damaging	Het
Git2	A	T	5: 114,869,047 (GRCm39)		probably benign	Het
Gm8126	A	T	14: 43,117,047 (GRCm39)	R63W	probably benign	Het
Ica1l	T	C	1: 60,049,345 (GRCm39)	K203E	probably benign	Het
Iigp1c	A	T	18: 60,378,944 (GRCm39)	K160*	probably null	Het
Inpp5d	A	G	1: 87,623,088 (GRCm39)	M393V	probably null	Het
Kbtbd11	A	G	8: 15,078,841 (GRCm39)	D480G	probably damaging	Het
Klhl1	T	C	14: 96,477,649 (GRCm39)	N473S	probably benign	Het
Krt1c	A	G	15: 101,719,589 (GRCm39)	S694P	unknown	Het
Lhfpl6	C	T	3: 52,950,732 (GRCm39)	A2V	probably benign	Het
Lipk	T	A	19: 34,024,279 (GRCm39)	L354Q	probably damaging	Het
Luzp2	T	A	7: 54,861,546 (GRCm39)	L225*	probably null	Het
Mknk1	C	T	4: 115,717,288 (GRCm39)	Q58*	probably null	Het
Mmut	A	T	17: 41,249,510 (GRCm39)	I162F	probably damaging	Het
Nol11	T	A	11: 107,064,199 (GRCm39)	M518L	probably benign	Het
Nubpl	T	C	12: 52,357,477 (GRCm39)		probably benign	Het
Nup35	T	A	2: 80,474,563 (GRCm39)	S93R	possibly damaging	Het
Or2t48	T	C	11: 58,420,816 (GRCm39)		probably benign	Het
Or5ak22	T	A	2: 85,230,647 (GRCm39)	I77F	probably damaging	Het
Pex3	T	C	10: 13,411,344 (GRCm39)	E178G	possibly damaging	Het
Rad23b	C	A	4: 55,370,457 (GRCm39)	P161Q	possibly damaging	Het
Sipa1l2	A	G	8: 126,178,716 (GRCm39)	S1128P	probably damaging	Het
Terb2	T	C	2: 122,035,289 (GRCm39)		probably benign	Het
Trim72	A	G	7: 127,603,942 (GRCm39)	Y96C	probably damaging	Het
Tyk2	T	C	9: 21,022,339 (GRCm39)	D830G	possibly damaging	Het
Uri1	A	G	7: 37,664,916 (GRCm39)	S259P	probably benign	Het
Usp38	A	T	8: 81,712,187 (GRCm39)	L616H	probably damaging	Het
Uspl1	T	A	5: 149,125,269 (GRCm39)	C73S	probably damaging	Het
Wdr7	C	A	18: 63,929,306 (GRCm39)	D1047E	probably benign	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
IGL02607:Cit	APN	5	115,997,268 (GRCm39)	missense	probably benign
IGL02720:Cit	APN	5	116,133,511 (GRCm39)	missense	probably benign	0.26
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