Mutagenetix > Incidental Mutation

Incidental Mutation 'R0001:Cdan1'

32220

Institutional Source

Beutler Lab

Gene Symbol

Cdan1

Ensembl Gene

ENSMUSG00000027284

Gene Name

congenital dyserythropoietic anemia, type I (human)

Synonyms

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

MMRRC Submission

038297-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0001 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

120716154-120850128 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120723751 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 939 (R939L)

Ref Sequence

ENSEMBL: ENSMUSP00000106329 (fasta)

Gene Model

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

AlphaFold

Q8CC12

Predicted Effect

probably benign
Transcript: ENSMUST00000110700
AA Change: R939L

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: R939L

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 benign
Transcript: ENSMUST00000110701
AA Change: R939L

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: R939L

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: 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

Meta Mutation Damage Score

0.1182

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	G	A	19: 58,789,171	A61V	probably damaging	Het
2900092C05Rik	T	A	7: 12,554,607		probably benign	Het
A4galt	A	G	15: 83,228,289	F98L	probably benign	Het
Abca4	T	G	3: 122,081,011		probably benign	Het
Acacb	C	T	5: 114,204,833		probably benign	Het
Agbl1	A	T	7: 76,419,863	H367L	probably damaging	Het
Apoa4	C	A	9: 46,242,892	Q264K	probably benign	Het
Camsap2	A	T	1: 136,282,888		probably benign	Het
Ceacam18	G	A	7: 43,636,876	V58I	possibly damaging	Het
Ciita	A	T	16: 10,514,433		probably benign	Het
Clk4	T	A	11: 51,268,765		probably benign	Het
Cntnap2	T	C	6: 46,530,171	D215G	probably benign	Het
Col11a2	T	C	17: 34,061,612	S1218P	probably benign	Het
Col20a1	T	C	2: 180,984,412		probably benign	Het
Ctsb	A	G	14: 63,135,622	E76G	probably benign	Het
Ctu2	T	C	8: 122,478,920	C161R	probably benign	Het
Dhx29	T	C	13: 112,964,556	L1211P	probably damaging	Het
Dhx9	G	T	1: 153,462,636	T759K	probably damaging	Het
Dmxl1	T	C	18: 49,888,897		probably benign	Het
Dpysl3	C	T	18: 43,358,375	E226K	possibly damaging	Het
Eif2d	A	T	1: 131,168,127	K453*	probably null	Het
Epha7	T	C	4: 28,961,279		probably benign	Het
Fam160b1	T	A	19: 57,381,756	H477Q	probably benign	Het
Fat3	T	C	9: 16,377,873	D118G	probably damaging	Het
Foxn4	T	A	5: 114,260,870	Q159L	probably damaging	Het
Frs2	G	T	10: 117,074,876	H194N	possibly damaging	Het
Fut8	A	T	12: 77,475,315	*576L	probably null	Het
Galns	T	C	8: 122,595,883		probably benign	Het
Gamt	G	A	10: 80,259,061		probably benign	Het
Gpn1	T	A	5: 31,495,617		probably benign	Het
Ipcef1	G	T	10: 6,900,600	H330Q	probably damaging	Het
Itga4	A	C	2: 79,326,587	Y1024S	probably damaging	Het
Jak2	A	G	19: 29,282,387	I229V	probably benign	Het
Katnal1	A	G	5: 148,921,275	S42P	probably damaging	Het
Kcnu1	A	T	8: 25,859,270	D142V	probably damaging	Het
Lig3	C	T	11: 82,790,591	R470W	probably damaging	Het
Mgat4c	A	G	10: 102,388,956	S344G	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mipol1	C	T	12: 57,460,839		probably benign	Het
Mki67	C	T	7: 135,699,172	V1378M	probably damaging	Het
Mki67	T	A	7: 135,701,019	D762V	probably damaging	Het
Mmp9	A	G	2: 164,948,383	T43A	probably benign	Het
Muc6	T	C	7: 141,641,574	T1316A	possibly damaging	Het
Naip5	A	G	13: 100,214,650		probably null	Het
Naip5	C	A	13: 100,223,114	S538I	probably benign	Het
Nek3	A	T	8: 22,158,612		probably benign	Het
Nlrp1b	A	G	11: 71,161,759	S948P	probably damaging	Het
Nyap2	A	T	1: 81,192,107	H193L	probably benign	Het
Olfr1413	A	G	1: 92,573,461	K97E	possibly damaging	Het
Olfr648	T	A	7: 104,179,473	K312*	probably null	Het
Patl2	G	A	2: 122,125,710		probably benign	Het
Pcdhb11	A	T	18: 37,423,989	R791W	probably benign	Het
Pkd1l3	C	A	8: 109,628,633		probably benign	Het
Pkn2	A	T	3: 142,828,988	V73D	probably benign	Het
Pknox1	A	T	17: 31,599,636	H281L	probably damaging	Het
Polr3a	A	G	14: 24,452,189		probably benign	Het
Prss38	A	G	11: 59,373,180		probably benign	Het
Rad54l2	A	G	9: 106,708,217	F783S	probably damaging	Het
Rbm5	T	C	9: 107,742,424	R125G	probably damaging	Het
Rnpep	A	G	1: 135,272,485		probably benign	Het
Slc1a5	T	A	7: 16,793,637		probably null	Het
Slc22a4	G	A	11: 54,028,003		probably benign	Het
Spink12	T	C	18: 44,107,696	C50R	probably damaging	Het
Svep1	G	A	4: 58,066,460	T3208I	possibly damaging	Het
Tgm5	G	T	2: 121,077,646	D16E	probably damaging	Het
Tpp2	A	G	1: 43,971,726	N558D	probably benign	Het
Trappc9	A	T	15: 72,963,662	L507Q	probably damaging	Het
Trpm3	A	T	19: 22,715,331	Q262L	possibly damaging	Het
Ttn	A	G	2: 76,776,972		probably benign	Het
Ttn	G	A	2: 76,832,089		probably benign	Het
Ubr4	T	A	4: 139,451,788	L3316Q	probably damaging	Het
Uckl1	T	A	2: 181,574,655	Y136F	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vps39	A	G	2: 120,318,053	V870A	probably benign	Het
Zdhhc25	A	G	15: 88,600,909	D149G	probably benign	Het
Zfp648	C	T	1: 154,205,286	T397M	probably damaging	Het
Zic2	C	A	14: 122,478,957	T435K	probably damaging	Het

Other mutations in Cdan1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01592:Cdan1	APN	2	120725985	missense	probably damaging	1.00
IGL01660:Cdan1	APN	2	120725653	missense	possibly damaging	0.63
IGL01930:Cdan1	APN	2	120726582	intron	probably benign
IGL02597:Cdan1	APN	2	120725239	missense	probably benign	0.08
IGL03025:Cdan1	APN	2	120730741	missense	probably damaging	1.00
IGL03130:Cdan1	APN	2	120727912	missense	possibly damaging	0.94
IGL03388:Cdan1	APN	2	120730511	utr 3 prime	probably benign
FR4737:Cdan1	UTSW	2	120724971	missense	probably damaging	0.96
R0650:Cdan1	UTSW	2	120726045	missense	probably benign	0.00
R0781:Cdan1	UTSW	2	120720602	missense	probably damaging	1.00
R0881:Cdan1	UTSW	2	120720985	missense	probably damaging	1.00
R1110:Cdan1	UTSW	2	120720602	missense	probably damaging	1.00
R1345:Cdan1	UTSW	2	120719139	critical splice donor site	probably null
R1370:Cdan1	UTSW	2	120719139	critical splice donor site	probably null
R1503:Cdan1	UTSW	2	120729575	missense	probably damaging	1.00
R1579:Cdan1	UTSW	2	120730739	missense	probably damaging	0.98
R1664:Cdan1	UTSW	2	120720506	missense	probably damaging	0.99
R1749:Cdan1	UTSW	2	120729799	missense	probably damaging	0.96
R1765:Cdan1	UTSW	2	120720749	missense	probably damaging	1.00
R1806:Cdan1	UTSW	2	120731426	utr 3 prime	probably benign
R1856:Cdan1	UTSW	2	120724936	missense	probably benign
R2202:Cdan1	UTSW	2	120720760	missense	probably damaging	1.00
R2203:Cdan1	UTSW	2	120720760	missense	probably damaging	1.00
R2204:Cdan1	UTSW	2	120720760	missense	probably damaging	1.00
R3957:Cdan1	UTSW	2	120725632	missense	probably damaging	1.00
R3957:Cdan1	UTSW	2	120731020	utr 3 prime	probably benign
R4060:Cdan1	UTSW	2	120725743	missense	probably benign	0.00
R4324:Cdan1	UTSW	2	120724979	missense	probably damaging	0.97
R4379:Cdan1	UTSW	2	120726618	missense	probably damaging	1.00
R4611:Cdan1	UTSW	2	120730720	missense	probably damaging	0.96
R4695:Cdan1	UTSW	2	120728383	missense	probably damaging	1.00
R4866:Cdan1	UTSW	2	120731447	utr 3 prime	probably benign
R5183:Cdan1	UTSW	2	120729580	missense	probably damaging	0.96
R5347:Cdan1	UTSW	2	120730065	missense	possibly damaging	0.95
R5789:Cdan1	UTSW	2	120729535	missense	probably benign	0.22
R5958:Cdan1	UTSW	2	120723902	missense	possibly damaging	0.80
R6608:Cdan1	UTSW	2	120726680	missense	possibly damaging	0.78
R7055:Cdan1	UTSW	2	120727861	missense	probably damaging	0.97
R7065:Cdan1	UTSW	2	120718921	missense	probably benign	0.00
R7225:Cdan1	UTSW	2	120724912	missense	probably benign
R7238:Cdan1	UTSW	2	120730302	missense	probably benign
R7316:Cdan1	UTSW	2	120728332	critical splice donor site	probably null
R7325:Cdan1	UTSW	2	120724704	missense	probably benign	0.25
R7432:Cdan1	UTSW	2	120722755	missense	probably damaging	1.00
R7517:Cdan1	UTSW	2	120727924	missense	probably damaging	1.00
R7691:Cdan1	UTSW	2	120729567	missense	probably damaging	1.00
R8004:Cdan1	UTSW	2	120731443	missense	unknown
R8324:Cdan1	UTSW	2	120727325	missense	probably benign	0.07
R8465:Cdan1	UTSW	2	120728440	missense	possibly damaging	0.93
R8556:Cdan1	UTSW	2	120722990	missense	probably damaging	1.00
R8932:Cdan1	UTSW	2	120731087	nonsense	probably null
R9462:Cdan1	UTSW	2	120729579	missense	possibly damaging	0.87
R9718:Cdan1	UTSW	2	120724169	missense	probably damaging	1.00
X0050:Cdan1	UTSW	2	120724145	missense	probably benign	0.29
Z1088:Cdan1	UTSW	2	120730336	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCTGTAGGAAGGAGAAACCCACC -3'
(R):5'- TGGAGTAAGAACCCTAGTCTCAGCC -3'

Sequencing Primer
(F):5'- AGCCTTACATTACAGACTTCCAATTC -3'
(R):5'- CTTTAACCTGTTGCCAAACTAAGC -3'

Posted On

2013-05-09