Incidental Mutation 'R8932:Cdan1'
| ID |
690205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdan1
|
| Ensembl Gene |
ENSMUSG00000027284 |
| Gene Name |
codanin 1 |
| Synonyms |
1500015A01Rik, codanin-1, CDA1, CDA-I |
| MMRRC Submission |
068776-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8932 (G1)
|
| Quality Score |
173.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
120546635-120561998 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 120561568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 66
(Q66*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028740]
[ENSMUST00000057135]
[ENSMUST00000085840]
[ENSMUST00000110700]
[ENSMUST00000110701]
[ENSMUST00000154193]
|
| AlphaFold |
Q8CC12 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028740
|
| SMART Domains |
Protein: ENSMUSP00000028740
Gene: ENSMUSG00000090100
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
90 |
347 |
7e-31 |
PFAM |
|
Pfam:Pkinase_Tyr
|
90 |
348 |
8.2e-19 |
PFAM |
|
low complexity region
|
369 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1156 |
N/A |
INTRINSIC |
|
low complexity region
|
1205 |
1242 |
N/A |
INTRINSIC |
|
low complexity region
|
1254 |
1271 |
N/A |
INTRINSIC |
|
low complexity region
|
1285 |
1309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057135
|
| SMART Domains |
Protein: ENSMUSP00000055032
Gene: ENSMUSG00000090100
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
21 |
274 |
1.2e-32 |
PFAM |
|
Pfam:Pkinase_Tyr
|
21 |
280 |
3.8e-19 |
PFAM |
|
low complexity region
|
300 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
1074 |
1087 |
N/A |
INTRINSIC |
|
low complexity region
|
1136 |
1173 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1202 |
N/A |
INTRINSIC |
|
low complexity region
|
1216 |
1240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085840
|
| SMART Domains |
Protein: ENSMUSP00000083001
Gene: ENSMUSG00000090100
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
21 |
274 |
1.2e-32 |
PFAM |
|
Pfam:Pkinase_Tyr
|
21 |
280 |
3.8e-19 |
PFAM |
|
low complexity region
|
300 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
1074 |
1087 |
N/A |
INTRINSIC |
|
low complexity region
|
1136 |
1173 |
N/A |
INTRINSIC |
|
low complexity region
|
1185 |
1202 |
N/A |
INTRINSIC |
|
low complexity region
|
1216 |
1240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110700
AA Change: Q67*
|
| SMART Domains |
Protein: ENSMUSP00000106328
Gene: ENSMUSG00000027284
AA Change: Q67*
| 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 null
Transcript: ENSMUST00000110701
AA Change: Q66*
|
| SMART Domains |
Protein: ENSMUSP00000106329
Gene: ENSMUSG00000027284
AA Change: Q66*
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (67/67) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
G |
T |
8: 44,105,192 (GRCm39) |
T151K |
probably benign |
Het |
| Adnp2 |
C |
T |
18: 80,185,893 (GRCm39) |
G27S |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,660,292 (GRCm39) |
M265V |
probably benign |
Het |
| Aoc1l1 |
G |
A |
6: 48,952,428 (GRCm39) |
E118K |
probably damaging |
Het |
| Apoe |
T |
C |
7: 19,430,597 (GRCm39) |
D215G |
possibly damaging |
Het |
| Atp5f1b |
A |
G |
10: 127,924,850 (GRCm39) |
I438V |
probably benign |
Het |
| Bckdha |
A |
G |
7: 25,330,436 (GRCm39) |
S387P |
probably damaging |
Het |
| Camkk1 |
T |
C |
11: 72,924,734 (GRCm39) |
F316L |
probably damaging |
Het |
| Carmil1 |
A |
G |
13: 24,197,179 (GRCm39) |
Y158H |
|
Het |
| Ccdc148 |
T |
C |
2: 58,894,054 (GRCm39) |
R29G |
probably benign |
Het |
| Ccdc39 |
A |
G |
3: 33,884,274 (GRCm39) |
V356A |
probably benign |
Het |
| Ckap4 |
A |
T |
10: 84,364,290 (GRCm39) |
S258T |
probably benign |
Het |
| Col5a2 |
T |
C |
1: 45,419,306 (GRCm39) |
D1258G |
probably benign |
Het |
| Col6a1 |
G |
A |
10: 76,552,593 (GRCm39) |
P431L |
unknown |
Het |
| Cplane1 |
A |
G |
15: 8,223,859 (GRCm39) |
Y874C |
probably damaging |
Het |
| Csn1s2a |
A |
G |
5: 87,933,164 (GRCm39) |
I138V |
probably benign |
Het |
| Cyp19a1 |
C |
T |
9: 54,083,861 (GRCm39) |
G176D |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,878,015 (GRCm39) |
E2700G |
possibly damaging |
Het |
| Eif3l |
T |
A |
15: 78,960,006 (GRCm39) |
Y23* |
probably null |
Het |
| Fam72a |
A |
G |
1: 131,456,502 (GRCm39) |
K22E |
probably benign |
Het |
| Golim4 |
A |
G |
3: 75,805,351 (GRCm39) |
V258A |
probably benign |
Het |
| Gtf2ird2 |
C |
T |
5: 134,237,739 (GRCm39) |
A272V |
probably benign |
Het |
| Hpse |
T |
C |
5: 100,846,872 (GRCm39) |
T186A |
possibly damaging |
Het |
| Ift140 |
A |
T |
17: 25,305,862 (GRCm39) |
Q816H |
probably benign |
Het |
| Iqca1 |
A |
T |
1: 90,067,750 (GRCm39) |
I167N |
probably damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,401,141 (GRCm39) |
F515L |
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,295 (GRCm39) |
R558H |
probably benign |
Het |
| Kcna10 |
G |
A |
3: 107,101,419 (GRCm39) |
D17N |
probably damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,915,829 (GRCm39) |
I164V |
probably damaging |
Het |
| Lrrc55 |
G |
T |
2: 85,026,615 (GRCm39) |
N136K |
probably damaging |
Het |
| Mdm4 |
A |
T |
1: 132,940,382 (GRCm39) |
M50K |
probably benign |
Het |
| Mfge8 |
A |
G |
7: 78,786,530 (GRCm39) |
S290P |
probably damaging |
Het |
| Mindy4 |
G |
A |
6: 55,201,115 (GRCm39) |
D267N |
probably benign |
Het |
| Mllt10 |
T |
A |
2: 18,128,617 (GRCm39) |
S199R |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,533,029 (GRCm39) |
S436P |
probably damaging |
Het |
| Mpped2 |
A |
G |
2: 106,697,395 (GRCm39) |
N290S |
possibly damaging |
Het |
| Mrgpra2a |
A |
G |
7: 47,076,445 (GRCm39) |
L271P |
probably benign |
Het |
| Myrf |
T |
A |
19: 10,200,931 (GRCm39) |
E247D |
probably benign |
Het |
| Ndrg3 |
A |
G |
2: 156,782,299 (GRCm39) |
I189T |
possibly damaging |
Het |
| Nenf |
C |
T |
1: 191,050,148 (GRCm39) |
E48K |
probably benign |
Het |
| Nlgn2 |
T |
A |
11: 69,718,994 (GRCm39) |
N232Y |
probably damaging |
Het |
| Oog2 |
G |
T |
4: 143,920,685 (GRCm39) |
M39I |
probably benign |
Het |
| Or9r7 |
A |
T |
10: 129,962,631 (GRCm39) |
N98K |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,304,371 (GRCm39) |
N461K |
probably benign |
Het |
| P4ha1 |
A |
G |
10: 59,175,130 (GRCm39) |
D30G |
possibly damaging |
Het |
| Pappa2 |
A |
T |
1: 158,590,762 (GRCm39) |
C1631S |
probably damaging |
Het |
| Pigk |
A |
G |
3: 152,445,871 (GRCm39) |
M161V |
possibly damaging |
Het |
| Prdm1 |
G |
T |
10: 44,317,335 (GRCm39) |
S496Y |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,095,299 (GRCm39) |
N624S |
possibly damaging |
Het |
| Rgs6 |
A |
G |
12: 83,112,733 (GRCm39) |
D181G |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 110,040,155 (GRCm39) |
|
probably null |
Het |
| Sbno2 |
A |
C |
10: 79,898,042 (GRCm39) |
L728W |
probably damaging |
Het |
| Selenbp2 |
A |
T |
3: 94,609,793 (GRCm39) |
I310F |
probably damaging |
Het |
| Shank3 |
T |
A |
15: 89,432,986 (GRCm39) |
W1244R |
possibly damaging |
Het |
| Slc34a1 |
A |
C |
13: 24,004,184 (GRCm39) |
I395L |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,194,693 (GRCm39) |
D877E |
probably damaging |
Het |
| Smtn |
T |
C |
11: 3,472,908 (GRCm39) |
S255G |
probably benign |
Het |
| Tbx2 |
T |
A |
11: 85,725,533 (GRCm39) |
D161E |
probably damaging |
Het |
| Tex14 |
C |
A |
11: 87,324,675 (GRCm39) |
L26M |
possibly damaging |
Het |
| Traf7 |
A |
G |
17: 24,731,286 (GRCm39) |
F249S |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,815,366 (GRCm39) |
K1151E |
possibly damaging |
Het |
| Ttc7b |
A |
G |
12: 100,268,022 (GRCm39) |
V773A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,747,912 (GRCm39) |
T4379I |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,602,854 (GRCm39) |
T18456I |
probably damaging |
Het |
| Ttn |
G |
C |
2: 76,709,171 (GRCm39) |
L8703V |
unknown |
Het |
| Ubb |
T |
A |
11: 62,442,979 (GRCm39) |
I3N |
probably damaging |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,343 (GRCm39) |
W116R |
probably damaging |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,838 (GRCm39) |
D190G |
probably damaging |
Het |
| Wdr12 |
T |
A |
1: 60,130,202 (GRCm39) |
M70L |
probably benign |
Het |
| Wdr48 |
C |
A |
9: 119,740,142 (GRCm39) |
T317K |
probably damaging |
Het |
| Zbtb5 |
A |
G |
4: 44,993,962 (GRCm39) |
V474A |
probably benign |
Het |
| Zfp128 |
C |
T |
7: 12,625,113 (GRCm39) |
R494C |
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 |
|
|
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 |
|
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'- ATCAGAGAGCGACAGTCTGG -3'
(R):5'- GGATGATGCTTCAGTCCCTTC -3'
Sequencing Primer
(F):5'- GCTGCCTGAGCCCTTAGG -3'
(R):5'- GATGCTTCAGTCCCTTCTCCCAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation