Mutagenetix > Incidental Mutation

Incidental Mutation 'R2202:Cdan1'

238707

Institutional Source

Beutler Lab

Gene Symbol

Cdan1

Ensembl Gene

ENSMUSG00000027284

Gene Name

codanin 1

Synonyms

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

MMRRC Submission

040204-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2202 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120546635-120561998 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120551241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 1093 (C1093F)

Ref Sequence

ENSEMBL: ENSMUSP00000106329 (fasta)

Gene Model

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

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: C1086F

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

SMART Domains

Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: C1086F

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: C1093F

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

SMART Domains

Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: C1093F

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: ENSMUST00000141917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148285

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: 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

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,056,011 (GRCm39)	V249A	possibly damaging	Het
9930111J21Rik2	C	G	11: 48,910,149 (GRCm39)	L761F	probably damaging	Het
Abca1	G	A	4: 53,090,291 (GRCm39)	T386I	probably damaging	Het
Abca14	T	C	7: 119,888,764 (GRCm39)	Y1237H	probably benign	Het
Abi3bp	C	T	16: 56,471,088 (GRCm39)	R578*	probably null	Het
Abi3bp	T	G	16: 56,433,566 (GRCm39)	L550R	probably benign	Het
Adamts7	A	T	9: 90,062,729 (GRCm39)	K394N	probably damaging	Het
Ahdc1	A	G	4: 132,793,220 (GRCm39)	E1487G	possibly damaging	Het
AI987944	T	C	7: 41,023,950 (GRCm39)	E343G	probably damaging	Het
Ankrd26	T	A	6: 118,500,843 (GRCm39)	H876L	possibly damaging	Het
Atg16l1	A	C	1: 87,694,737 (GRCm39)	Q138P	probably benign	Het
Atp1b1	G	T	1: 164,281,084 (GRCm39)	T11K	probably benign	Het
Calr3	A	G	8: 73,188,683 (GRCm39)	L40S	probably damaging	Het
Ccar1	A	C	10: 62,581,066 (GRCm39)	D1119E	unknown	Het
Cdk12	T	G	11: 98,101,464 (GRCm39)	S441A	unknown	Het
Ces4a	T	A	8: 105,872,746 (GRCm39)	V333E	probably damaging	Het
Cfap61	T	C	2: 146,056,600 (GRCm39)	L1193P	probably damaging	Het
Chd2	A	T	7: 73,128,416 (GRCm39)	D856E	probably benign	Het
Chil3	T	C	3: 106,071,562 (GRCm39)	D34G	probably benign	Het
Cln3	T	A	7: 126,178,390 (GRCm39)	H211L	probably benign	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Dcstamp	T	A	15: 39,617,708 (GRCm39)	V39E	probably damaging	Het
Dicer1	C	T	12: 104,697,297 (GRCm39)	V87M	possibly damaging	Het
Duox1	A	G	2: 122,175,194 (GRCm39)	T1331A	probably benign	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Fam184a	T	A	10: 53,528,530 (GRCm39)	Q29L	probably damaging	Het
Fcer2a	T	C	8: 3,738,557 (GRCm39)	E60G	possibly damaging	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Fnbp1l	A	T	3: 122,340,611 (GRCm39)	M463K	probably benign	Het
Garem2	A	G	5: 30,319,762 (GRCm39)	D408G	probably benign	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Gpc3	T	A	X: 51,486,083 (GRCm39)	I344F	probably damaging	Het
Gtf2e1	T	A	16: 37,331,904 (GRCm39)	E390D	possibly damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Il15ra	T	A	2: 11,723,155 (GRCm39)		probably null	Het
Ints8	A	T	4: 11,225,712 (GRCm39)	M615K	possibly damaging	Het
Irak1	G	A	X: 73,060,744 (GRCm39)	T193I	probably damaging	Het
Jmjd1c	A	G	10: 67,075,242 (GRCm39)		probably null	Het
Knstrn	T	A	2: 118,661,456 (GRCm39)		probably null	Het
Letm1	C	A	5: 33,926,830 (GRCm39)	V156L	possibly damaging	Het
Lrrc24	G	A	15: 76,607,111 (GRCm39)	P95L	probably damaging	Het
Map2k2	T	C	10: 80,955,213 (GRCm39)	S14P	probably damaging	Het
Me3	T	C	7: 89,499,589 (GRCm39)	Y535H	probably damaging	Het
Nfatc2ip	T	C	7: 125,990,467 (GRCm39)	E178G	probably benign	Het
Nop56	T	A	2: 130,119,488 (GRCm39)	I51N	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
Or10a2	T	A	7: 106,673,523 (GRCm39)	W163R	probably damaging	Het
Or2m12	C	T	16: 19,105,047 (GRCm39)	A149T	probably benign	Het
Or4p23	C	G	2: 88,576,953 (GRCm39)	G93A	probably benign	Het
Pbrm1	A	G	14: 30,754,406 (GRCm39)	D142G	possibly damaging	Het
Pdcl	A	T	2: 37,242,056 (GRCm39)	N231K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pid1	T	A	1: 84,016,159 (GRCm39)	I69F	probably damaging	Het
Pkhd1	A	G	1: 20,607,584 (GRCm39)	S1091P	probably benign	Het
Plcb4	T	C	2: 135,844,514 (GRCm39)	I144T	probably benign	Het
Plxnd1	T	C	6: 115,939,725 (GRCm39)	N1418S	probably benign	Het
Pmm1	T	C	15: 81,840,601 (GRCm39)	T82A	probably benign	Het
Prrc2b	C	A	2: 32,113,476 (GRCm39)	Q1970K	probably damaging	Het
Ptprz1	C	T	6: 23,000,649 (GRCm39)	T913M	possibly damaging	Het
Ralgapa1	T	C	12: 55,659,585 (GRCm39)		probably null	Het
Rbm8a2	T	C	1: 175,806,420 (GRCm39)	E19G	possibly damaging	Het
Rgs3	T	C	4: 62,608,741 (GRCm39)	S336P	probably damaging	Het
Saxo5	A	T	8: 3,529,028 (GRCm39)	D201V	probably benign	Het
Serpina11	G	T	12: 103,952,233 (GRCm39)	T179K	probably damaging	Het
Serpina1f	T	C	12: 103,659,655 (GRCm39)	N209S	possibly damaging	Het
Serpinf2	G	A	11: 75,327,588 (GRCm39)	T159I	probably benign	Het
Slc19a1	T	C	10: 76,877,758 (GRCm39)	C98R	possibly damaging	Het
Slc22a20	A	T	19: 6,021,553 (GRCm39)	I483N	possibly damaging	Het
Spata31d1d	A	G	13: 59,879,435 (GRCm39)	C34R	possibly damaging	Het
Stoml2	G	T	4: 43,030,243 (GRCm39)	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843 (GRCm39)	L531P	possibly damaging	Het
Timd5	A	G	11: 46,419,394 (GRCm39)	N70S	probably benign	Het
Tln1	C	T	4: 43,553,083 (GRCm39)		probably null	Het
Tmem39b	A	C	4: 129,587,716 (GRCm39)	S32A	probably benign	Het
Tmx3	T	C	18: 90,546,037 (GRCm39)	F206S	probably damaging	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Trappc10	A	G	10: 78,034,876 (GRCm39)		probably null	Het
Tssk2	A	G	16: 17,716,603 (GRCm39)	D2G	possibly damaging	Het
Ttn	T	C	2: 76,601,985 (GRCm39)	N18559S	possibly damaging	Het
Ube3b	G	A	5: 114,527,135 (GRCm39)	V118M	probably damaging	Het
Vmn1r23	T	C	6: 57,903,604 (GRCm39)	D58G	probably benign	Het
Vmn2r53	T	A	7: 12,335,366 (GRCm39)	Y98F	probably damaging	Het
Vmn2r58	T	A	7: 41,513,594 (GRCm39)	N350Y	probably benign	Het
Vmn2r82	A	T	10: 79,192,519 (GRCm39)	H32L	probably benign	Het
Wsb1	T	C	11: 79,131,212 (GRCm39)	I395V	probably benign	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfat	T	C	15: 68,051,709 (GRCm39)	D695G	probably benign	Het
Zfp358	G	T	8: 3,546,995 (GRCm39)	V526F	possibly damaging	Het
Zmat1	A	G	X: 133,873,861 (GRCm39)	L476P	possibly 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
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'- GATCTGGTCTGCAACTACAGG -3'
(R):5'- GCTCTCTACAGGATGTGCTC -3'

Sequencing Primer
(F):5'- CTGGTCTGCAACTACAGGGAAGAG -3'
(R):5'- GAGTTTCCCCAGAGCATCTG -3'

Posted On

2014-10-02