Mutagenetix > Incidental Mutation

Incidental Mutation 'R1765:Cdan1'

194256

Institutional Source

Beutler Lab

Gene Symbol

Cdan1

Ensembl Gene

ENSMUSG00000027284

Gene Name

codanin 1

Synonyms

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

MMRRC Submission

039797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120546635-120561998 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120551230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 1097 (L1097V)

Ref Sequence

ENSEMBL: ENSMUSP00000106329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110700] [ENSMUST00000110701] [ENSMUST00000140843] [ENSMUST00000154193] [ENSMUST00000180041]

AlphaFold

Q8CC12

Predicted Effect

probably benign
Transcript: ENSMUST00000070420

SMART Domains

Protein: ENSMUSP00000070111
Gene: ENSMUSG00000033705

Domain	Start	End	E-Value	Type
coiled coil region	97	138	N/A	INTRINSIC
low complexity region	142	151	N/A	INTRINSIC
low complexity region	157	174	N/A	INTRINSIC
low complexity region	234	255	N/A	INTRINSIC
Pfam:START	274	469	3.2e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110700
AA Change: L1090V

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

SMART Domains

Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: L1090V

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

probably damaging
Transcript: ENSMUST00000110701
AA Change: L1097V

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

SMART Domains

Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: L1097V

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: ENSMUST00000124906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141917

Predicted Effect

probably benign
Transcript: ENSMUST00000140843

SMART Domains

Protein: ENSMUSP00000117178
Gene: ENSMUSG00000033705

Domain	Start	End	E-Value	Type
FHA	63	115	2.8e-4	SMART
coiled coil region	334	354	N/A	INTRINSIC
low complexity region	573	584	N/A	INTRINSIC
low complexity region	866	871	N/A	INTRINSIC
low complexity region	1023	1035	N/A	INTRINSIC
low complexity region	1234	1248	N/A	INTRINSIC
low complexity region	1765	1775	N/A	INTRINSIC
low complexity region	2546	2559	N/A	INTRINSIC
low complexity region	2953	2963	N/A	INTRINSIC
low complexity region	3269	3281	N/A	INTRINSIC
low complexity region	3421	3435	N/A	INTRINSIC
coiled coil region	3767	3808	N/A	INTRINSIC
low complexity region	3812	3821	N/A	INTRINSIC
low complexity region	3827	3844	N/A	INTRINSIC
low complexity region	3904	3925	N/A	INTRINSIC
SCOP:d1jssa_	3946	4142	1e-28	SMART
Blast:START	3947	4143	1e-10	BLAST

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

Predicted Effect

probably benign
Transcript: ENSMUST00000180041

SMART Domains

Protein: ENSMUSP00000136055
Gene: ENSMUSG00000033705

Domain	Start	End	E-Value	Type
KISc	1	392	3.31e-143	SMART
low complexity region	398	409	N/A	INTRINSIC
FHA	481	533	2.8e-4	SMART
coiled coil region	752	772	N/A	INTRINSIC
low complexity region	991	1002	N/A	INTRINSIC
low complexity region	1284	1289	N/A	INTRINSIC
low complexity region	1441	1453	N/A	INTRINSIC
low complexity region	1652	1666	N/A	INTRINSIC
low complexity region	2183	2193	N/A	INTRINSIC
low complexity region	2964	2977	N/A	INTRINSIC
low complexity region	3371	3381	N/A	INTRINSIC
low complexity region	3687	3699	N/A	INTRINSIC
low complexity region	3839	3853	N/A	INTRINSIC
coiled coil region	4185	4226	N/A	INTRINSIC
low complexity region	4230	4239	N/A	INTRINSIC
low complexity region	4245	4262	N/A	INTRINSIC
low complexity region	4322	4343	N/A	INTRINSIC

Meta Mutation Damage Score

0.1215

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	G	T	15: 59,887,194 (GRCm39)	C415*	probably null	Het
Adamtsl2	A	C	2: 26,992,842 (GRCm39)	I652L	probably benign	Het
Adgrl4	T	C	3: 151,248,872 (GRCm39)	I720T	probably damaging	Het
Agrn	A	T	4: 156,261,284 (GRCm39)	C604*	probably null	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
B3galt2	C	A	1: 143,522,207 (GRCm39)	N114K	probably benign	Het
Bud23	A	T	5: 135,084,897 (GRCm39)	M59K	probably benign	Het
C3	C	T	17: 57,531,401 (GRCm39)		probably null	Het
C9orf72	A	C	4: 35,197,098 (GRCm39)	H322Q	probably damaging	Het
Cc2d2a	A	T	5: 43,871,873 (GRCm39)	D903V	probably damaging	Het
Ccdc9b	G	A	2: 118,591,128 (GRCm39)	A135V	probably benign	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdc26	T	A	4: 62,313,155 (GRCm39)	N62I	probably benign	Het
Cdc27	G	T	11: 104,425,607 (GRCm39)	Q70K	probably damaging	Het
Cenpq	A	T	17: 41,235,178 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,239,200 (GRCm39)	S1858G	probably damaging	Het
Clasp1	T	C	1: 118,433,261 (GRCm39)	S247P	probably damaging	Het
Cyp2w1	C	T	5: 139,339,623 (GRCm39)	T71I	probably damaging	Het
Dcaf1	T	C	9: 106,741,793 (GRCm39)	F1336S	probably damaging	Het
Dennd6b	G	A	15: 89,074,506 (GRCm39)	Q104*	probably null	Het
Dglucy	T	A	12: 100,816,361 (GRCm39)		probably null	Het
Dnajc9	A	G	14: 20,438,158 (GRCm39)	V148A	possibly damaging	Het
Dnmbp	T	A	19: 43,890,579 (GRCm39)	D396V	possibly damaging	Het
Dock10	T	A	1: 80,583,540 (GRCm39)	I221F	probably damaging	Het
Dscam	T	C	16: 96,486,579 (GRCm39)	N1032S	probably benign	Het
Dsg4	A	C	18: 20,589,888 (GRCm39)	Y346S	probably benign	Het
Dync1i2	A	G	2: 71,079,759 (GRCm39)	H417R	probably benign	Het
Dysf	G	A	6: 84,167,884 (GRCm39)		probably null	Het
Elovl1	A	G	4: 118,287,707 (GRCm39)	M1V	probably null	Het
Eva1c	A	G	16: 90,701,135 (GRCm39)	S257G	probably benign	Het
Eya2	A	T	2: 165,566,723 (GRCm39)	D258V	probably damaging	Het
Fam193a	A	G	5: 34,593,841 (GRCm39)	T113A	probably damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fstl5	G	T	3: 76,500,783 (GRCm39)	R404L	possibly damaging	Het
Glud1	T	C	14: 34,047,541 (GRCm39)		probably benign	Het
Gm10770	A	C	2: 150,021,258 (GRCm39)	H86Q	probably damaging	Het
Gzme	C	T	14: 56,355,871 (GRCm39)	G147D	probably damaging	Het
Herc3	T	C	6: 58,865,645 (GRCm39)	V746A	probably damaging	Het
Hmga1	A	G	17: 27,778,592 (GRCm39)	E17G	probably damaging	Het
Kdelr2	A	T	5: 143,406,567 (GRCm39)	K206*	probably null	Het
Kng2	A	G	16: 22,806,993 (GRCm39)		probably null	Het
Lrrc41	G	A	4: 115,946,248 (GRCm39)	R321H	possibly damaging	Het
Mapkapk2	A	T	1: 130,986,498 (GRCm39)	M1K	probably null	Het
Me2	A	G	18: 73,924,929 (GRCm39)	F263L	probably damaging	Het
Mkks	A	G	2: 136,722,287 (GRCm39)	L290P	probably damaging	Het
Mmp12	T	A	9: 7,354,772 (GRCm39)	I255N	probably damaging	Het
Mogs	A	G	6: 83,093,784 (GRCm39)	D251G	probably benign	Het
Morf4l1	T	A	9: 89,984,401 (GRCm39)	Y65F	possibly damaging	Het
Neb	T	C	2: 52,094,676 (GRCm39)	D5169G	probably damaging	Het
Nin	A	G	12: 70,089,665 (GRCm39)	L1250P	probably damaging	Het
Nomo1	G	T	7: 45,715,717 (GRCm39)	G721V	possibly damaging	Het
Notch2	T	G	3: 98,029,242 (GRCm39)	C1002G	probably damaging	Het
Npat	T	C	9: 53,481,522 (GRCm39)	Y1077H	probably benign	Het
Or1e1c	T	A	11: 73,266,170 (GRCm39)	N198K	probably damaging	Het
Or4g17	G	A	2: 111,209,491 (GRCm39)	V49I	probably benign	Het
Or4p21	A	T	2: 88,276,367 (GRCm39)	F305Y	probably damaging	Het
Or5h25	A	G	16: 58,930,118 (GRCm39)	L285P	probably damaging	Het
Or8c16	T	C	9: 38,130,548 (GRCm39)	I143T	probably benign	Het
Otop2	A	T	11: 115,215,504 (GRCm39)	I142F	probably benign	Het
Pacsin3	A	G	2: 91,093,460 (GRCm39)	E279G	possibly damaging	Het
Pafah2	A	G	4: 134,140,758 (GRCm39)	T243A	probably benign	Het
Pcdhgc5	A	G	18: 37,954,913 (GRCm39)	H729R	probably benign	Het
Plcd1	T	C	9: 118,900,874 (GRCm39)	D756G	probably damaging	Het
Prune2	A	G	19: 17,102,962 (GRCm39)	E2707G	probably damaging	Het
Rit2	C	T	18: 31,449,951 (GRCm39)	G16S	probably damaging	Het
Sec24c	A	G	14: 20,738,922 (GRCm39)		probably benign	Het
Skint5	G	T	4: 113,434,858 (GRCm39)	T1037K	unknown	Het
Slc28a2	T	A	2: 122,290,876 (GRCm39)		probably null	Het
Slc41a2	G	A	10: 83,137,130 (GRCm39)	A259V	probably damaging	Het
Slc6a17	T	A	3: 107,380,895 (GRCm39)	I537F	possibly damaging	Het
Slco1a7	T	C	6: 141,700,084 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,707,196 (GRCm39)		probably benign	Het
Smg1	T	C	7: 117,738,938 (GRCm39)	I3489V	probably benign	Het
Sytl3	T	C	17: 6,967,082 (GRCm39)	L142P	probably damaging	Het
Tektl1	A	T	10: 78,584,502 (GRCm39)	M340K	probably benign	Het
Tfr2	C	T	5: 137,581,707 (GRCm39)	T598I	probably damaging	Het
Tmc2	A	G	2: 130,102,145 (GRCm39)	Q770R	probably benign	Het
Tnc	C	T	4: 63,932,231 (GRCm39)	V728M	probably damaging	Het
Trim68	A	T	7: 102,329,597 (GRCm39)	M177K	possibly damaging	Het
Trmt11	T	C	10: 30,435,184 (GRCm39)	D325G	probably benign	Het
Ube3a	C	T	7: 58,935,862 (GRCm39)	T582I	probably damaging	Het
Usp13	G	A	3: 32,969,919 (GRCm39)	E682K	probably benign	Het
Usp9y	A	G	Y: 1,384,454 (GRCm39)	V688A	possibly damaging	Het
Uts2r	A	G	11: 121,052,095 (GRCm39)	T320A	possibly damaging	Het
Vmn1r34	A	T	6: 66,614,480 (GRCm39)	M86K	probably damaging	Het
Vsig10	A	G	5: 117,456,880 (GRCm39)		probably benign	Het
Zbtb41	T	A	1: 139,368,132 (GRCm39)	C607S	probably benign	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
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
R4611:Cdan1	UTSW	2	120,561,201 (GRCm39)	missense	probably damaging	0.96
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'- TATGTAGAAGCCTCCGAGCGTGTC -3'
(R):5'- TTTCCCCAGAGCATCTGGAACAGC -3'

Sequencing Primer
(F):5'- CTCCAGCCTGTGCTGTG -3'
(R):5'- AGCTTCTAAACCAGATGGGC -3'

Posted On

2014-05-23