Incidental Mutation 'R9718:Cdan1'
| ID |
730587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdan1
|
| Ensembl Gene |
ENSMUSG00000027284 |
| Gene Name |
codanin 1 |
| Synonyms |
1500015A01Rik, codanin-1, CDA1, CDA-I |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9718 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
120546635-120561998 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 120554650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 875
(A875E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110700]
[ENSMUST00000110701]
[ENSMUST00000154193]
|
| AlphaFold |
Q8CC12 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110700
AA Change: A875E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: A875E
| 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: A875E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: A875E
| 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 |
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
A |
C |
2: 32,465,247 (GRCm39) |
|
probably benign |
Het |
| Acvr1c |
A |
T |
2: 58,206,007 (GRCm39) |
D34E |
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,976,603 (GRCm39) |
V455A |
probably damaging |
Het |
| Cbfa2t3 |
T |
A |
8: 123,364,936 (GRCm39) |
D282V |
probably benign |
Het |
| Ccl9 |
T |
A |
11: 83,466,238 (GRCm39) |
N114I |
probably benign |
Het |
| Celf2 |
A |
T |
2: 6,726,349 (GRCm39) |
F61L |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,712,801 (GRCm39) |
Y875H |
unknown |
Het |
| Ckap5 |
A |
T |
2: 91,379,177 (GRCm39) |
K39M |
probably benign |
Het |
| Clcn3 |
T |
C |
8: 61,390,434 (GRCm39) |
H169R |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,560,083 (GRCm39) |
V1416F |
|
Het |
| Cyp4v3 |
A |
T |
8: 45,773,703 (GRCm39) |
H155Q |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,379,466 (GRCm39) |
F874S |
possibly damaging |
Het |
| Dnah14 |
A |
T |
1: 181,450,544 (GRCm39) |
Q719L |
probably benign |
Het |
| Evi2 |
C |
T |
11: 79,406,583 (GRCm39) |
V331M |
probably damaging |
Het |
| Fcgrt |
T |
G |
7: 44,744,853 (GRCm39) |
E205A |
possibly damaging |
Het |
| Fkrp |
G |
T |
7: 16,545,112 (GRCm39) |
T250N |
probably benign |
Het |
| Ftdc1 |
A |
G |
16: 58,434,974 (GRCm39) |
L117S |
probably benign |
Het |
| Galc |
G |
A |
12: 98,225,573 (GRCm39) |
P6S |
|
Het |
| Gm5134 |
A |
T |
10: 75,828,331 (GRCm39) |
M304L |
possibly damaging |
Het |
| Haao |
T |
C |
17: 84,142,215 (GRCm39) |
E208G |
probably damaging |
Het |
| Hook1 |
T |
A |
4: 95,904,678 (GRCm39) |
H553Q |
probably benign |
Het |
| Igdcc3 |
A |
G |
9: 65,090,280 (GRCm39) |
|
probably null |
Het |
| Ighv10-3 |
C |
T |
12: 114,487,254 (GRCm39) |
V56I |
probably benign |
Het |
| Ighv1-62-1 |
G |
T |
12: 115,350,705 (GRCm39) |
A15E |
probably benign |
Het |
| Krtap24-1 |
T |
C |
16: 88,408,378 (GRCm39) |
*249W |
probably null |
Het |
| Ktn1 |
T |
G |
14: 47,910,508 (GRCm39) |
I318R |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,572,123 (GRCm39) |
T710A |
unknown |
Het |
| Ldha |
A |
T |
7: 46,504,456 (GRCm39) |
Q326L |
possibly damaging |
Het |
| Map4 |
G |
A |
9: 109,901,774 (GRCm39) |
|
probably null |
Het |
| Mdfic |
T |
A |
6: 15,770,514 (GRCm39) |
H173Q |
probably damaging |
Het |
| Noxred1 |
T |
A |
12: 87,271,692 (GRCm39) |
Q159L |
possibly damaging |
Het |
| Omd |
T |
C |
13: 49,743,336 (GRCm39) |
S129P |
probably damaging |
Het |
| Or14j3 |
C |
T |
17: 37,900,914 (GRCm39) |
G110D |
probably benign |
Het |
| Or52r1c |
T |
C |
7: 102,735,196 (GRCm39) |
V152A |
probably benign |
Het |
| Parp16 |
A |
G |
9: 65,141,009 (GRCm39) |
Y193C |
probably damaging |
Het |
| Pdzk1 |
A |
G |
3: 96,763,174 (GRCm39) |
T201A |
|
Het |
| Phldb2 |
T |
A |
16: 45,601,756 (GRCm39) |
H728L |
possibly damaging |
Het |
| Prrt1b |
A |
T |
2: 29,637,548 (GRCm39) |
L42Q |
probably damaging |
Het |
| Ptchd4 |
C |
T |
17: 42,813,641 (GRCm39) |
T514I |
probably damaging |
Het |
| Pusl1 |
T |
C |
4: 155,976,094 (GRCm39) |
D24G |
probably benign |
Het |
| Rai1 |
G |
A |
11: 60,080,165 (GRCm39) |
A1410T |
probably benign |
Het |
| Rint1 |
T |
A |
5: 24,005,721 (GRCm39) |
H134Q |
possibly damaging |
Het |
| Rnf170 |
A |
G |
8: 26,619,243 (GRCm39) |
S156G |
unknown |
Het |
| Rtf1 |
A |
G |
2: 119,535,986 (GRCm39) |
D180G |
possibly damaging |
Het |
| Sectm1a |
G |
T |
11: 120,960,490 (GRCm39) |
D108E |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,944,277 (GRCm39) |
D200E |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,616,848 (GRCm39) |
S431G |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,073,472 (GRCm39) |
D773E |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,089,248 (GRCm39) |
L1662P |
probably damaging |
Het |
| Slx4 |
G |
T |
16: 3,804,328 (GRCm39) |
P829T |
possibly damaging |
Het |
| Snapc4 |
A |
T |
2: 26,268,533 (GRCm39) |
S43T |
probably damaging |
Het |
| Ssh3 |
C |
T |
19: 4,312,437 (GRCm39) |
R636Q |
probably benign |
Het |
| Strn4 |
G |
A |
7: 16,572,496 (GRCm39) |
V679M |
probably damaging |
Het |
| Tas2r121 |
T |
G |
6: 132,677,765 (GRCm39) |
Y69S |
probably benign |
Het |
| Tcerg1 |
C |
T |
18: 42,663,836 (GRCm39) |
T341M |
unknown |
Het |
| Tjp2 |
A |
C |
19: 24,078,207 (GRCm39) |
S895R |
probably damaging |
Het |
| Tmem220 |
G |
T |
11: 66,916,086 (GRCm39) |
A28S |
probably damaging |
Het |
| Trdv1 |
G |
A |
14: 54,119,663 (GRCm39) |
C109Y |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,634,190 (GRCm39) |
Y423C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,625,027 (GRCm39) |
M15184V |
possibly damaging |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,802 (GRCm39) |
Y355F |
probably benign |
Het |
| Vnn3 |
C |
T |
10: 23,745,454 (GRCm39) |
R468* |
probably null |
Het |
| Washc5 |
T |
A |
15: 59,217,192 (GRCm39) |
T792S |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,847,893 (GRCm39) |
M820V |
|
Het |
| Zfp961 |
T |
A |
8: 72,721,933 (GRCm39) |
C149S |
possibly damaging |
Het |
| Zmat4 |
G |
A |
8: 24,238,507 (GRCm39) |
V30M |
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 |
|
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 |
|
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'- GGATAGAAGAAATTTCAGCCTCCC -3'
(R):5'- GGAAACTGCTTGCTTCCTGG -3'
Sequencing Primer
(F):5'- AGAAATTTCAGCCTCCCTGCCC -3'
(R):5'- TTTCAGGAAGCAGTGGGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation