Mutagenetix > Incidental Mutation

Incidental Mutation 'R0320:Cit'

38277

Institutional Source

Beutler Lab

Gene Symbol

Cit

Ensembl Gene

ENSMUSG00000029516

Gene Name

citron

Synonyms

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

MMRRC Submission

038530-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R0320 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115983337-116147006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 116117504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 1227 (L1227M)

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

possibly damaging
Transcript: ENSMUST00000051704
AA Change: L1227M

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062049
Gene: ENSMUSG00000029516
AA Change: L1227M

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

possibly damaging
Transcript: ENSMUST00000102560
AA Change: L1227M

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099620
Gene: ENSMUSG00000029516
AA Change: L1227M

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

possibly damaging
Transcript: ENSMUST00000112008
AA Change: L1185M

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107639
Gene: ENSMUSG00000029516
AA Change: L1185M

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

possibly damaging
Transcript: ENSMUST00000141101
AA Change: L1185M

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115802
Gene: ENSMUSG00000029516
AA Change: L1185M

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

100% (71/71)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,571 (GRCm39)	T465A	probably benign	Het
A430110L20Rik	T	G	1: 181,054,987 (GRCm39)		noncoding transcript	Het
Aadacl4fm1	A	T	4: 144,248,990 (GRCm39)	H119L	probably damaging	Het
Abcb10	C	T	8: 124,689,746 (GRCm39)	R439Q	probably benign	Het
Abcb8	T	C	5: 24,605,788 (GRCm39)	S199P	probably damaging	Het
Adam8	C	A	7: 139,566,355 (GRCm39)	C556F	probably damaging	Het
Akap11	T	C	14: 78,750,819 (GRCm39)	T523A	probably benign	Het
Aldh3b1	T	C	19: 3,968,999 (GRCm39)		probably benign	Het
Arhgap30	T	A	1: 171,231,372 (GRCm39)	W230R	possibly damaging	Het
Atp8b4	A	G	2: 126,301,614 (GRCm39)	I82T	possibly damaging	Het
Bptf	A	T	11: 106,963,645 (GRCm39)	L1850I	probably damaging	Het
C4b	C	A	17: 34,952,135 (GRCm39)	V1237L	probably benign	Het
Calu	C	A	6: 29,374,550 (GRCm39)		probably benign	Het
Col4a1	C	T	8: 11,292,782 (GRCm39)		probably null	Het
Cp	T	C	3: 20,029,012 (GRCm39)		probably benign	Het
Cpd	T	C	11: 76,731,273 (GRCm39)	D311G	possibly damaging	Het
Ctc1	T	A	11: 68,924,363 (GRCm39)	S972T	probably damaging	Het
Dnah17	A	G	11: 117,943,500 (GRCm39)	F3201L	possibly damaging	Het
Dop1b	C	A	16: 93,607,035 (GRCm39)	R2113S	probably benign	Het
Dym	T	A	18: 75,332,333 (GRCm39)	D520E	probably damaging	Het
Eif5a	G	T	11: 69,808,305 (GRCm39)	T64K	probably benign	Het
Flt3	A	T	5: 147,306,389 (GRCm39)		probably benign	Het
Ints6	A	T	14: 62,945,084 (GRCm39)	Y415*	probably null	Het
Itga1	A	G	13: 115,114,130 (GRCm39)		probably benign	Het
Itgae	A	G	11: 73,021,825 (GRCm39)	H902R	possibly damaging	Het
Itprid1	T	C	6: 55,953,432 (GRCm39)	I916T	probably damaging	Het
Kdm5a	T	C	6: 120,366,581 (GRCm39)	I406T	probably benign	Het
Lmx1a	C	T	1: 167,618,973 (GRCm39)	Q111*	probably null	Het
Lrrc25	T	C	8: 71,070,896 (GRCm39)	Y226H	probably benign	Het
Mcam	T	A	9: 44,051,483 (GRCm39)	N447K	possibly damaging	Het
Mcm10	A	T	2: 5,008,897 (GRCm39)	D357E	probably benign	Het
Nrip1	T	C	16: 76,089,251 (GRCm39)	T769A	probably benign	Het
Ofcc1	G	C	13: 40,360,172 (GRCm39)	Q286E	probably benign	Het
Or1e23	T	G	11: 73,407,750 (GRCm39)	I92L	probably damaging	Het
Or56b35	A	T	7: 104,963,861 (GRCm39)	I217F	probably benign	Het
Parp3	T	A	9: 106,353,011 (GRCm39)	N55I	possibly damaging	Het
Parp4	T	C	14: 56,825,953 (GRCm39)		probably null	Het
Pilrb1	G	A	5: 137,853,260 (GRCm39)	T181I	probably benign	Het
Ppm1n	A	G	7: 19,012,281 (GRCm39)	V317A	probably damaging	Het
Prdm2	A	T	4: 142,905,921 (GRCm39)	F55L	probably damaging	Het
Psd2	C	T	18: 36,112,697 (GRCm39)	R131C	probably damaging	Het
Ralgps1	A	T	2: 33,031,027 (GRCm39)	C570S	possibly damaging	Het
Scaf8	T	C	17: 3,228,530 (GRCm39)	S443P	unknown	Het
Setd5	A	G	6: 113,088,442 (GRCm39)	K190R	probably damaging	Het
Spsb4	T	A	9: 96,878,161 (GRCm39)	H54L	probably damaging	Het
St7l	T	A	3: 104,778,229 (GRCm39)	L122*	probably null	Het
Stom	C	T	2: 35,211,646 (GRCm39)	R125H	probably damaging	Het
Tigd4	T	A	3: 84,502,481 (GRCm39)	V466E	probably benign	Het
Tmc3	A	C	7: 83,257,027 (GRCm39)		probably benign	Het
Vcl	C	T	14: 21,035,692 (GRCm39)		probably benign	Het
Vmn1r168	G	A	7: 23,240,767 (GRCm39)	R208H	probably benign	Het
Vmn2r75	C	A	7: 85,814,288 (GRCm39)	V402L	probably benign	Het
Vps13b	A	T	15: 35,674,974 (GRCm39)	H1698L	probably damaging	Het
Wnt16	T	G	6: 22,297,992 (GRCm39)	V286G	possibly damaging	Het
Xirp1	C	A	9: 119,845,533 (GRCm39)	V1117L	probably benign	Het
Zfp788	C	T	7: 41,298,971 (GRCm39)	H536Y	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGGAGTTGCTCTCACAAGGGAAC -3'
(R):5'- TGTCGGAGTGCCAAACAACCAAAG -3'

Sequencing Primer
(F):5'- TTCCTGCATCACTCGGGAAG -3'
(R):5'- GTGCCAAACAACCAAAGGACAG -3'

Posted On

2013-05-23