Mutagenetix > Incidental Mutation

Incidental Mutation 'R1602:Cit'

176196

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

039639-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R1602 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115983337-116147006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116135789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1919 (I1919N)

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 damaging
Transcript: ENSMUST00000051704
AA Change: I1904N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062049
Gene: ENSMUSG00000029516
AA Change: I1904N

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 damaging
Transcript: ENSMUST00000102560
AA Change: I1919N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099620
Gene: ENSMUSG00000029516
AA Change: I1919N

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 damaging
Transcript: ENSMUST00000112008
AA Change: I1877N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107639
Gene: ENSMUSG00000029516
AA Change: I1877N

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

probably damaging
Transcript: ENSMUST00000141101
AA Change: I1862N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115802
Gene: ENSMUSG00000029516
AA Change: I1862N

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

0.3139

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.4%

Validation Efficiency

91% (49/54)

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
Ankrd12	A	T	17: 66,290,683 (GRCm39)	Y1583*	probably null	Het
Ankrd34c	T	C	9: 89,611,058 (GRCm39)	T428A	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Atr	T	C	9: 95,833,610 (GRCm39)	L2620P	probably damaging	Het
Ccdc110	A	G	8: 46,391,955 (GRCm39)	Y54C	probably benign	Het
Cecr2	T	C	6: 120,732,548 (GRCm39)	V480A	possibly damaging	Het
Chfr	A	G	5: 110,299,531 (GRCm39)	D308G	probably benign	Het
Ctsc	T	A	7: 87,927,512 (GRCm39)	D34E	possibly damaging	Het
Diaph3	T	A	14: 87,328,594 (GRCm39)		probably benign	Het
Dnah6	T	A	6: 73,044,452 (GRCm39)	I3220F	probably damaging	Het
Eif1ad16	C	A	12: 87,985,134 (GRCm39)	E136D	probably benign	Het
Eif4a3l1	G	A	6: 136,305,778 (GRCm39)	A80T	probably damaging	Het
Elmod3	A	G	6: 72,546,242 (GRCm39)		probably null	Het
Fgd5	T	C	6: 92,043,165 (GRCm39)	V1215A	possibly damaging	Het
Filip1	T	C	9: 79,727,873 (GRCm39)	M249V	probably damaging	Het
Fmn1	C	T	2: 113,355,968 (GRCm39)	P803L	unknown	Het
Gcfc2	A	G	6: 81,921,401 (GRCm39)	K469R	probably damaging	Het
Itgad	A	G	7: 127,790,111 (GRCm39)	T637A	probably damaging	Het
Kank2	T	C	9: 21,681,133 (GRCm39)	S799G	probably damaging	Het
Kcnc4	A	T	3: 107,355,520 (GRCm39)	D309E	possibly damaging	Het
Lamc2	G	A	1: 153,002,774 (GRCm39)	T1069M	probably benign	Het
Lepr	T	A	4: 101,602,842 (GRCm39)	M210K	possibly damaging	Het
Lig3	T	C	11: 82,683,020 (GRCm39)		probably null	Het
Oat	G	T	7: 132,171,736 (GRCm39)	T33K	probably benign	Het
Or2ad1	T	C	13: 21,326,820 (GRCm39)	M136V	probably damaging	Het
Or4b1d	A	G	2: 89,969,399 (GRCm39)	F28S	probably damaging	Het
Or7c70	T	A	10: 78,682,802 (GRCm39)	M316L	probably benign	Het
Pcnx3	G	T	19: 5,722,543 (GRCm39)	A1383E	probably damaging	Het
Pctp	T	C	11: 89,879,561 (GRCm39)	Y100C	probably damaging	Het
Pex6	G	T	17: 47,023,063 (GRCm39)	R213L	probably benign	Het
Phlpp2	T	C	8: 110,660,655 (GRCm39)	L770S	possibly damaging	Het
Pkn2	A	T	3: 142,559,299 (GRCm39)	D75E	possibly damaging	Het
Pla2g12b	T	C	10: 59,257,375 (GRCm39)		probably null	Het
Plch2	C	T	4: 155,068,907 (GRCm39)	V1135I	probably damaging	Het
Pskh1	T	A	8: 106,639,453 (GRCm39)	S44R	probably benign	Het
Ptpra	G	T	2: 30,327,602 (GRCm39)	A119S	probably benign	Het
Shld2	A	G	14: 33,989,607 (GRCm39)	I433T	probably damaging	Het
Slfn3	A	G	11: 83,103,541 (GRCm39)	I137M	probably damaging	Het
St6galnac1	A	T	11: 116,660,113 (GRCm39)	S67T	probably benign	Het
Timd5	T	C	11: 46,426,415 (GRCm39)	I174T	probably benign	Het
Treml1	A	G	17: 48,671,917 (GRCm39)	E137G	probably damaging	Het
Ubr2	A	C	17: 47,251,987 (GRCm39)	C1518G	probably benign	Het
Vmn2r55	A	T	7: 12,386,571 (GRCm39)	C470S	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
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
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'- TTGAGATCCAGGCCAGATCCTCAC -3'
(R):5'- GAGCCGTTTTCTCTACAGAGCCAC -3'

Sequencing Primer
(F):5'- AGATCCTCACTGGGGTAAGC -3'
(R):5'- TTTCTCTACAGAGCCACTGAAGG -3'

Posted On

2014-04-24