Mutagenetix > Incidental Mutation

Incidental Mutation 'R1664:Cdan1'

186986

Institutional Source

Beutler Lab

Gene Symbol

Cdan1

Ensembl Gene

ENSMUSG00000027284

Gene Name

codanin 1

Synonyms

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

MMRRC Submission

039700-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1664 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120546635-120561998 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120550987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1135 (D1135V)

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: D1128V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: D1128V

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: D1135V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: D1135V

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: ENSMUST00000126753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129384

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

noncoding transcript
Transcript: ENSMUST00000141917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148285

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	A	14: 35,533,772 (GRCm39)	T45S	probably benign	Het
Ackr1	A	G	1: 173,160,433 (GRCm39)	F29L	probably benign	Het
Adgrf2	T	A	17: 43,025,305 (GRCm39)	S60C	possibly damaging	Het
Alpk2	A	G	18: 65,482,944 (GRCm39)	C355R	probably damaging	Het
Ankmy1	A	C	1: 92,812,913 (GRCm39)	D465E	probably benign	Het
Ankrd27	T	A	7: 35,306,551 (GRCm39)	D310E	probably damaging	Het
Ap3d1	G	A	10: 80,553,571 (GRCm39)	Q559*	probably null	Het
C4b	T	C	17: 34,951,952 (GRCm39)	T1298A	probably damaging	Het
Casr	T	A	16: 36,330,327 (GRCm39)	K336*	probably null	Het
Ccdc116	A	T	16: 16,960,492 (GRCm39)	D108E	probably benign	Het
Ccdc168	T	A	1: 44,098,387 (GRCm39)	I904F	possibly damaging	Het
Ccr7	A	T	11: 99,036,517 (GRCm39)	I135N	possibly damaging	Het
Cd96	A	G	16: 45,938,364 (GRCm39)	Y34H	possibly damaging	Het
Cecr2	C	A	6: 120,738,987 (GRCm39)	T1210K	probably damaging	Het
Cep152	C	A	2: 125,408,174 (GRCm39)	A1390S	probably benign	Het
Chd9	T	G	8: 91,749,418 (GRCm39)		probably null	Het
Cntnap5c	G	T	17: 58,600,985 (GRCm39)	W776L	probably benign	Het
Col24a1	G	A	3: 145,095,355 (GRCm39)		probably null	Het
Cpa2	G	T	6: 30,554,314 (GRCm39)	M311I	probably damaging	Het
Cpz	A	G	5: 35,664,087 (GRCm39)	F483L	probably damaging	Het
Ddx19a	A	C	8: 111,716,130 (GRCm39)	V90G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw7	A	G	3: 84,876,478 (GRCm39)	D213G	possibly damaging	Het
Fgd2	T	C	17: 29,588,273 (GRCm39)	F362L	probably damaging	Het
Fryl	A	G	5: 73,216,778 (GRCm39)	Y2171H	probably damaging	Het
Gba2	T	C	4: 43,578,080 (GRCm39)	R90G	probably benign	Het
Gm10073	T	C	8: 107,299,864 (GRCm39)	E40G	probably damaging	Het
Grhl3	T	C	4: 135,279,861 (GRCm39)	I398V	probably benign	Het
Grip2	T	A	6: 91,742,233 (GRCm39)	H899L	probably damaging	Het
Grk2	T	C	19: 4,337,268 (GRCm39)	K644E	possibly damaging	Het
Iars1	A	T	13: 49,865,251 (GRCm39)	T576S	probably damaging	Het
Kif26b	G	A	1: 178,759,704 (GRCm39)	V2084M	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc69	G	A	4: 14,775,079 (GRCm39)	T63M	probably damaging	Het
Lrrn4	A	T	2: 132,711,886 (GRCm39)	C646S	probably damaging	Het
Mtf2	C	T	5: 108,252,342 (GRCm39)	T457M	probably damaging	Het
Ncln	A	T	10: 81,323,555 (GRCm39)	C531S	probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or14j8	T	C	17: 38,263,784 (GRCm39)	I44V	probably benign	Het
Or5v1	C	T	17: 37,810,316 (GRCm39)	T258M	possibly damaging	Het
Or8c11	A	T	9: 38,289,548 (GRCm39)	M124L	possibly damaging	Het
Otogl	A	G	10: 107,642,437 (GRCm39)	V1331A	probably benign	Het
Palb2	A	G	7: 121,723,615 (GRCm39)		probably benign	Het
Pcdh20	T	C	14: 88,705,758 (GRCm39)	E514G	possibly damaging	Het
Pclaf	A	G	9: 65,797,730 (GRCm39)	N7S	probably benign	Het
Pdrg1	C	T	2: 152,857,248 (GRCm39)		probably benign	Het
Phf8-ps	T	A	17: 33,285,492 (GRCm39)	I437F	probably damaging	Het
Pik3r6	T	A	11: 68,426,932 (GRCm39)	D464E	probably benign	Het
Pkp3	A	G	7: 140,667,560 (GRCm39)	N454D	probably damaging	Het
Plekha7	C	A	7: 115,734,269 (GRCm39)		probably null	Het
Ppip5k1	A	G	2: 121,167,663 (GRCm39)	V784A	probably benign	Het
Ppp1r36	T	A	12: 76,483,028 (GRCm39)	D205E	possibly damaging	Het
Prss35	A	T	9: 86,637,700 (GRCm39)	T157S	probably benign	Het
Ptprn2	T	C	12: 117,125,329 (GRCm39)	L621P	probably damaging	Het
Rasgrp3	A	G	17: 75,831,172 (GRCm39)	K524R	probably damaging	Het
Rasgrp4	T	A	7: 28,839,688 (GRCm39)	H133Q	probably benign	Het
Reln	A	T	5: 22,134,084 (GRCm39)	Y2615N	probably damaging	Het
Rpf1	T	A	3: 146,217,903 (GRCm39)	T204S	probably benign	Het
Scgb2b3	T	A	7: 31,058,464 (GRCm39)	*113L	probably null	Het
Scn5a	A	C	9: 119,350,243 (GRCm39)	L877R	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,256,821 (GRCm39)	D632E	probably benign	Het
Slc39a10	T	C	1: 46,865,269 (GRCm39)	H522R	probably damaging	Het
Spink2	A	T	5: 77,354,855 (GRCm39)	C19S	probably damaging	Het
Spsb4	A	G	9: 96,878,266 (GRCm39)	L19P	possibly damaging	Het
St7l	T	C	3: 104,778,214 (GRCm39)	V117A	probably damaging	Het
Stac2	C	T	11: 97,933,420 (GRCm39)	S174N	probably damaging	Het
Sult4a1	A	G	15: 83,970,818 (GRCm39)	Y196H	probably benign	Het
Tex2	C	T	11: 106,458,608 (GRCm39)		probably benign	Het
Tprg1l	A	T	4: 154,243,862 (GRCm39)	V98D	possibly damaging	Het
Ttn	G	A	2: 76,548,369 (GRCm39)	H31978Y	probably damaging	Het
Ttn	T	C	2: 76,658,853 (GRCm39)		probably benign	Het
Tyk2	C	A	9: 21,031,649 (GRCm39)	R447L	probably damaging	Het
Ucn3	T	C	13: 3,991,634 (GRCm39)	Y6C	possibly damaging	Het
Urb1	A	T	16: 90,584,970 (GRCm39)		probably null	Het
Vmn2r94	G	C	17: 18,464,406 (GRCm39)	A628G	probably damaging	Het
Wdr95	C	A	5: 149,518,752 (GRCm39)	T389K	probably damaging	Het
Wrn	A	T	8: 33,770,794 (GRCm39)		probably null	Het
Xab2	T	A	8: 3,669,068 (GRCm39)		probably null	Het
Zfp458	A	T	13: 67,406,144 (GRCm39)	N95K	possibly damaging	Het
Zfp672	T	C	11: 58,208,138 (GRCm39)	H61R	probably damaging	Het
Zfp942	C	T	17: 22,147,420 (GRCm39)	G403E	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
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
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'- GTACACACTACCTCCCACTATGGCT -3'
(R):5'- GCATAGGATGTGCTCTTCTGCCTC -3'

Sequencing Primer
(F):5'- tggggaggcagaggcag -3'
(R):5'- GTGCTCTTCTGCCTCCATTTAAAAC -3'

Posted On

2014-05-09