Mutagenetix > Incidental Mutation

Incidental Mutation 'R4611:Cdan1'

344683

Institutional Source

Beutler Lab

Gene Symbol

Cdan1

Ensembl Gene

ENSMUSG00000027284

Gene Name

codanin 1

Synonyms

1500015A01Rik, codanin-1, CDA1, CDA-I

MMRRC Submission

041822-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120546635-120561998 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120561201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 189 (V189D)

Ref Sequence

ENSEMBL: ENSMUSP00000106328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028740] [ENSMUST00000057135] [ENSMUST00000085840] [ENSMUST00000110700] [ENSMUST00000110701] [ENSMUST00000154193]

AlphaFold

Q8CC12

Predicted Effect

probably benign
Transcript: ENSMUST00000028740

SMART Domains

Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100

Domain	Start	End	E-Value	Type
Pfam:Pkinase	90	347	7e-31	PFAM
Pfam:Pkinase_Tyr	90	348	8.2e-19	PFAM
low complexity region	369	383	N/A	INTRINSIC
low complexity region	1143	1156	N/A	INTRINSIC
low complexity region	1205	1242	N/A	INTRINSIC
low complexity region	1254	1271	N/A	INTRINSIC
low complexity region	1285	1309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000057135

SMART Domains

Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100

Domain	Start	End	E-Value	Type
Pfam:Pkinase	21	274	1.2e-32	PFAM
Pfam:Pkinase_Tyr	21	280	3.8e-19	PFAM
low complexity region	300	314	N/A	INTRINSIC
low complexity region	1074	1087	N/A	INTRINSIC
low complexity region	1136	1173	N/A	INTRINSIC
low complexity region	1185	1202	N/A	INTRINSIC
low complexity region	1216	1240	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085840

SMART Domains

Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100

Domain	Start	End	E-Value	Type
Pfam:Pkinase	21	274	1.2e-32	PFAM
Pfam:Pkinase_Tyr	21	280	3.8e-19	PFAM
low complexity region	300	314	N/A	INTRINSIC
low complexity region	1074	1087	N/A	INTRINSIC
low complexity region	1136	1173	N/A	INTRINSIC
low complexity region	1185	1202	N/A	INTRINSIC
low complexity region	1216	1240	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110700
AA Change: V189D

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: V189D

Domain	Start	End	E-Value	Type
low complexity region	25	42	N/A	INTRINSIC
low complexity region	78	99	N/A	INTRINSIC
low complexity region	102	151	N/A	INTRINSIC
low complexity region	154	180	N/A	INTRINSIC
low complexity region	326	337	N/A	INTRINSIC
low complexity region	561	576	N/A	INTRINSIC
low complexity region	724	735	N/A	INTRINSIC
Pfam:Codanin-1_C	786	906	2.4e-48	PFAM
low complexity region	1157	1171	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110701
AA Change: V188D

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: V188D

Domain	Start	End	E-Value	Type
low complexity region	77	98	N/A	INTRINSIC
low complexity region	101	150	N/A	INTRINSIC
low complexity region	153	179	N/A	INTRINSIC
low complexity region	326	337	N/A	INTRINSIC
low complexity region	561	576	N/A	INTRINSIC
low complexity region	724	735	N/A	INTRINSIC
Pfam:Codanin-1_C	789	904	2.4e-41	PFAM
low complexity region	1164	1178	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152692

Predicted Effect

probably benign
Transcript: ENSMUST00000154193

SMART Domains

Protein: ENSMUSP00000116900
Gene: ENSMUSG00000033705

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
coiled coil region	409	450	N/A	INTRINSIC
low complexity region	454	463	N/A	INTRINSIC
low complexity region	469	486	N/A	INTRINSIC
low complexity region	546	567	N/A	INTRINSIC
SCOP:d1jssa_	588	784	4e-29	SMART
Blast:START	589	785	6e-12	BLAST

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality between implantation and somite formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,885,259 (GRCm39)	R200C	probably benign	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aoc1l1	A	T	6: 48,952,090 (GRCm39)	Q5L	probably benign	Het
Apc	T	C	18: 34,451,618 (GRCm39)	L2804P	probably damaging	Het
Apob	C	A	12: 8,061,331 (GRCm39)	A3271E	probably damaging	Het
Asl	G	T	5: 130,047,157 (GRCm39)	A147E	probably damaging	Het
Atp1a1	A	G	3: 101,494,259 (GRCm39)	V447A	probably benign	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Bcl11b	T	C	12: 107,882,789 (GRCm39)	K509E	probably damaging	Het
Btnl1	T	C	17: 34,598,699 (GRCm39)	I105T	probably damaging	Het
Btnl10	A	G	11: 58,811,183 (GRCm39)	T169A	probably damaging	Het
C8b	T	C	4: 104,647,841 (GRCm39)	I278T	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd8b1	T	C	6: 71,309,459 (GRCm39)	V181A	probably benign	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cfap52	T	C	11: 67,817,247 (GRCm39)	N549D	probably damaging	Het
Cmklr1	C	T	5: 113,752,930 (GRCm39)	V24M	probably benign	Het
Cntnap4	G	T	8: 113,500,371 (GRCm39)		probably null	Het
Col27a1	G	A	4: 63,211,743 (GRCm39)	G91R	probably damaging	Het
Col5a3	A	G	9: 20,726,192 (GRCm39)		probably benign	Het
Dcc	C	T	18: 71,682,069 (GRCm39)		probably null	Het
Deaf1	T	A	7: 140,890,884 (GRCm39)	T433S	possibly damaging	Het
Dnah8	T	A	17: 30,903,211 (GRCm39)	L950H	probably damaging	Het
Dnajc7	A	T	11: 100,481,803 (GRCm39)	Y228*	probably null	Het
Eno1b	T	C	18: 48,180,770 (GRCm39)	V316A	probably damaging	Het
Exoc4	T	C	6: 33,415,340 (GRCm39)	M404T	possibly damaging	Het
Fignl1	A	T	11: 11,751,268 (GRCm39)	C596S	probably benign	Het
Fn1	A	C	1: 71,663,337 (GRCm39)	Y1050*	probably null	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gba2	T	A	4: 43,568,092 (GRCm39)	S732C	probably damaging	Het
Gcnt4	C	A	13: 97,082,990 (GRCm39)	S95R	probably benign	Het
Gpr37	A	G	6: 25,669,623 (GRCm39)	V407A	probably benign	Het
Gria2	A	T	3: 80,599,799 (GRCm39)	M695K	probably damaging	Het
Hoxa9	T	C	6: 52,202,690 (GRCm39)	K132R	probably damaging	Het
Ifi213	T	A	1: 173,417,480 (GRCm39)	T311S	possibly damaging	Het
Itgb2	T	A	10: 77,385,884 (GRCm39)	N282K	probably damaging	Het
Kcnh8	A	T	17: 52,909,864 (GRCm39)	Q11L	probably benign	Het
Klk14	T	C	7: 43,343,781 (GRCm39)	C163R	probably damaging	Het
Klk1b3	T	A	7: 43,850,689 (GRCm39)	W74R	possibly damaging	Het
Krtap13-1	G	T	16: 88,526,142 (GRCm39)	C122F	possibly damaging	Het
Luzp2	T	C	7: 54,713,104 (GRCm39)		probably null	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,570,576 (GRCm39)	V1211E	probably benign	Het
Myb	T	A	10: 21,021,223 (GRCm39)	D402V	probably damaging	Het
Ncor2	G	A	5: 125,107,923 (GRCm39)	T1593I	probably damaging	Het
Ndst3	A	G	3: 123,465,198 (GRCm39)	I258T	probably benign	Het
Npy6r	C	A	18: 44,409,468 (GRCm39)	H296Q	probably damaging	Het
Olfml2b	T	A	1: 170,472,516 (GRCm39)	L9H	probably damaging	Het
Or10a3n	A	G	7: 108,493,324 (GRCm39)	C97R	probably damaging	Het
Or1a1b	A	T	11: 74,097,361 (GRCm39)	V227D	possibly damaging	Het
Or2w2	A	T	13: 21,757,744 (GRCm39)	V294D	probably damaging	Het
Or4k15	C	A	14: 50,364,530 (GRCm39)	N165K	probably benign	Het
Or5b119	C	T	19: 13,457,376 (GRCm39)	C62Y	probably damaging	Het
Or5b94	T	A	19: 12,652,318 (GRCm39)	Y250N	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Parg	G	A	14: 31,996,821 (GRCm39)	R304Q	probably damaging	Het
Pdf	T	G	8: 107,775,167 (GRCm39)	S22R	probably benign	Het
Phlpp2	A	T	8: 110,603,515 (GRCm39)	R60S	possibly damaging	Het
Piwil2	C	T	14: 70,639,646 (GRCm39)	E401K	probably benign	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Polr3a	T	C	14: 24,502,576 (GRCm39)		probably null	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Ptch2	G	A	4: 116,967,575 (GRCm39)	D748N	probably benign	Het
Rai14	A	C	15: 10,592,224 (GRCm39)	Y224D	probably damaging	Het
Rft1	A	G	14: 30,411,747 (GRCm39)	I432V	probably damaging	Het
Rictor	C	T	15: 6,816,625 (GRCm39)	A1299V	possibly damaging	Het
Sall2	A	G	14: 52,551,210 (GRCm39)	C662R	probably damaging	Het
Scn4b	A	G	9: 45,061,737 (GRCm39)	N208D	probably damaging	Het
Sdhb	G	A	4: 140,700,226 (GRCm39)	G109R	probably damaging	Het
Sec16a	A	G	2: 26,331,817 (GRCm39)	V66A	probably benign	Het
Sema4g	A	G	19: 44,990,051 (GRCm39)	Y710C	probably damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Shc4	T	A	2: 125,497,602 (GRCm39)	D369V	probably benign	Het
Siglech	T	C	7: 55,421,441 (GRCm39)	L285P	probably damaging	Het
Skint6	A	G	4: 112,931,273 (GRCm39)	M506T	probably benign	Het
Slco1a6	C	A	6: 142,047,378 (GRCm39)	C404F	probably benign	Het
Slfn14	T	A	11: 83,174,140 (GRCm39)	K284*	probably null	Het
Sox14	A	G	9: 99,757,715 (GRCm39)	I8T	probably damaging	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Tdpoz3	A	T	3: 93,734,330 (GRCm39)	H335L	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tnik	T	C	3: 28,596,249 (GRCm39)		probably null	Het
Tnpo2	T	C	8: 85,780,432 (GRCm39)	S720P	probably benign	Het
Tpst1	A	G	5: 130,130,547 (GRCm39)	K6E	probably damaging	Het
Trank1	T	A	9: 111,191,329 (GRCm39)	I446N	probably damaging	Het
Trmt44	A	T	5: 35,732,351 (GRCm39)	D13E	probably benign	Het
Ubr4	T	A	4: 139,126,890 (GRCm39)	V471E	possibly damaging	Het
Ubtd1	A	G	19: 42,022,030 (GRCm39)	T101A	probably benign	Het
Ugt3a1	A	T	15: 9,306,486 (GRCm39)	K212*	probably null	Het
Zbtb7c	C	T	18: 76,269,918 (GRCm39)	A2V	possibly damaging	Het
Zfp423	C	T	8: 88,414,709 (GRCm39)	G1182D	possibly damaging	Het
Zfp618	G	A	4: 63,051,216 (GRCm39)	V666M	probably damaging	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo
Zscan20	T	C	4: 128,481,899 (GRCm39)	T588A	probably benign	Het
Zscan25	G	A	5: 145,227,926 (GRCm39)	R530H	probably damaging	Het

Other mutations in Cdan1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01592:Cdan1	APN	2	120,556,466 (GRCm39)	missense	probably damaging	1.00
IGL01660:Cdan1	APN	2	120,556,134 (GRCm39)	missense	possibly damaging	0.63
IGL01930:Cdan1	APN	2	120,557,063 (GRCm39)	intron	probably benign
IGL02597:Cdan1	APN	2	120,555,720 (GRCm39)	missense	probably benign	0.08
IGL03025:Cdan1	APN	2	120,561,222 (GRCm39)	missense	probably damaging	1.00
IGL03130:Cdan1	APN	2	120,558,393 (GRCm39)	missense	possibly damaging	0.94
IGL03388:Cdan1	APN	2	120,560,992 (GRCm39)	utr 3 prime	probably benign
FR4737:Cdan1	UTSW	2	120,555,452 (GRCm39)	missense	probably damaging	0.96
R0001:Cdan1	UTSW	2	120,554,232 (GRCm39)	missense	probably benign	0.41
R0650:Cdan1	UTSW	2	120,556,526 (GRCm39)	missense	probably benign	0.00
R0781:Cdan1	UTSW	2	120,551,083 (GRCm39)	missense	probably damaging	1.00
R0881:Cdan1	UTSW	2	120,551,466 (GRCm39)	missense	probably damaging	1.00
R1110:Cdan1	UTSW	2	120,551,083 (GRCm39)	missense	probably damaging	1.00
R1345:Cdan1	UTSW	2	120,549,620 (GRCm39)	critical splice donor site	probably null
R1370:Cdan1	UTSW	2	120,549,620 (GRCm39)	critical splice donor site	probably null
R1503:Cdan1	UTSW	2	120,560,056 (GRCm39)	missense	probably damaging	1.00
R1579:Cdan1	UTSW	2	120,561,220 (GRCm39)	missense	probably damaging	0.98
R1664:Cdan1	UTSW	2	120,550,987 (GRCm39)	missense	probably damaging	0.99
R1749:Cdan1	UTSW	2	120,560,280 (GRCm39)	missense	probably damaging	0.96
R1765:Cdan1	UTSW	2	120,551,230 (GRCm39)	missense	probably damaging	1.00
R1806:Cdan1	UTSW	2	120,561,907 (GRCm39)	utr 3 prime	probably benign
R1856:Cdan1	UTSW	2	120,555,417 (GRCm39)	missense	probably benign
R2202:Cdan1	UTSW	2	120,551,241 (GRCm39)	missense	probably damaging	1.00
R2203:Cdan1	UTSW	2	120,551,241 (GRCm39)	missense	probably damaging	1.00
R2204:Cdan1	UTSW	2	120,551,241 (GRCm39)	missense	probably damaging	1.00
R3957:Cdan1	UTSW	2	120,561,501 (GRCm39)	utr 3 prime	probably benign
R3957:Cdan1	UTSW	2	120,556,113 (GRCm39)	missense	probably damaging	1.00
R4060:Cdan1	UTSW	2	120,556,224 (GRCm39)	missense	probably benign	0.00
R4324:Cdan1	UTSW	2	120,555,460 (GRCm39)	missense	probably damaging	0.97
R4379:Cdan1	UTSW	2	120,557,099 (GRCm39)	missense	probably damaging	1.00
R4695:Cdan1	UTSW	2	120,558,864 (GRCm39)	missense	probably damaging	1.00
R4866:Cdan1	UTSW	2	120,561,928 (GRCm39)	utr 3 prime	probably benign
R5183:Cdan1	UTSW	2	120,560,061 (GRCm39)	missense	probably damaging	0.96
R5347:Cdan1	UTSW	2	120,560,546 (GRCm39)	missense	possibly damaging	0.95
R5789:Cdan1	UTSW	2	120,560,016 (GRCm39)	missense	probably benign	0.22
R5958:Cdan1	UTSW	2	120,554,383 (GRCm39)	missense	possibly damaging	0.80
R6608:Cdan1	UTSW	2	120,557,161 (GRCm39)	missense	possibly damaging	0.78
R7055:Cdan1	UTSW	2	120,558,342 (GRCm39)	missense	probably damaging	0.97
R7065:Cdan1	UTSW	2	120,549,402 (GRCm39)	missense	probably benign	0.00
R7225:Cdan1	UTSW	2	120,555,393 (GRCm39)	missense	probably benign
R7238:Cdan1	UTSW	2	120,560,783 (GRCm39)	missense	probably benign
R7316:Cdan1	UTSW	2	120,558,813 (GRCm39)	critical splice donor site	probably null
R7325:Cdan1	UTSW	2	120,555,185 (GRCm39)	missense	probably benign	0.25
R7432:Cdan1	UTSW	2	120,553,236 (GRCm39)	missense	probably damaging	1.00
R7517:Cdan1	UTSW	2	120,558,405 (GRCm39)	missense	probably damaging	1.00
R7691:Cdan1	UTSW	2	120,560,048 (GRCm39)	missense	probably damaging	1.00
R8004:Cdan1	UTSW	2	120,561,924 (GRCm39)	missense	unknown
R8324:Cdan1	UTSW	2	120,557,806 (GRCm39)	missense	probably benign	0.07
R8465:Cdan1	UTSW	2	120,558,921 (GRCm39)	missense	possibly damaging	0.93
R8556:Cdan1	UTSW	2	120,553,471 (GRCm39)	missense	probably damaging	1.00
R8932:Cdan1	UTSW	2	120,561,568 (GRCm39)	nonsense	probably null
R9462:Cdan1	UTSW	2	120,560,060 (GRCm39)	missense	possibly damaging	0.87
R9718:Cdan1	UTSW	2	120,554,650 (GRCm39)	missense	probably damaging	1.00
X0050:Cdan1	UTSW	2	120,554,626 (GRCm39)	missense	probably benign	0.29
Z1088:Cdan1	UTSW	2	120,560,817 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CGTTCTGCTGAGAGTAGTCAC -3'
(R):5'- TGAACTTCCTGAGGGAGCAGAG -3'

Sequencing Primer
(F):5'- ACAGTTGGGCCCCTTTTA -3'
(R):5'- AGCCAGCTTTTCCCTGCAG -3'

Posted On

2015-09-25