Incidental Mutation 'R5183:Cdan1'
ID |
397651 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdan1
|
Ensembl Gene |
ENSMUSG00000027284 |
Gene Name |
codanin 1 |
Synonyms |
1500015A01Rik, codanin-1, CDA1, CDA-I |
MMRRC Submission |
042762-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5183 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
120546635-120561998 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 120560061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 368
(I368F)
|
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 |
possibly damaging
Transcript: ENSMUST00000110700
AA Change: I368F
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106328 Gene: ENSMUSG00000027284 AA Change: I368F
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: I368F
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000106329 Gene: ENSMUSG00000027284 AA Change: I368F
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: ENSMUST00000126133
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129384
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150860
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148285
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136725
|
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 |
0.1092 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
99% (73/74) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,887,171 (GRCm39) |
D8E |
probably damaging |
Het |
Abca3 |
T |
G |
17: 24,593,427 (GRCm39) |
S275A |
probably benign |
Het |
Adk |
A |
G |
14: 21,290,599 (GRCm39) |
N155S |
probably damaging |
Het |
Aqp11 |
T |
C |
7: 97,386,963 (GRCm39) |
T78A |
probably benign |
Het |
Arhgef40 |
T |
C |
14: 52,241,556 (GRCm39) |
V1455A |
probably damaging |
Het |
Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
Cdc42bpg |
A |
G |
19: 6,371,835 (GRCm39) |
|
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,714,759 (GRCm39) |
D2013G |
probably damaging |
Het |
Cep152 |
A |
G |
2: 125,408,558 (GRCm39) |
V1332A |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,299,832 (GRCm39) |
S1172P |
probably damaging |
Het |
Commd2 |
A |
T |
3: 57,554,235 (GRCm39) |
D155E |
probably benign |
Het |
Coq7 |
T |
A |
7: 118,127,490 (GRCm39) |
|
probably benign |
Het |
Dnase2a |
T |
C |
8: 85,636,207 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Dock6 |
C |
T |
9: 21,752,899 (GRCm39) |
V305I |
probably benign |
Het |
Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
Fasn |
T |
C |
11: 120,699,708 (GRCm39) |
Q2288R |
probably benign |
Het |
Fat3 |
T |
A |
9: 15,871,609 (GRCm39) |
N3594I |
probably damaging |
Het |
Galnt10 |
T |
C |
11: 57,660,414 (GRCm39) |
M284T |
probably damaging |
Het |
Gatm |
A |
T |
2: 122,425,984 (GRCm39) |
F422L |
probably benign |
Het |
Glrp1 |
A |
T |
1: 88,437,574 (GRCm39) |
I12N |
unknown |
Het |
Gm5455 |
T |
A |
13: 110,441,962 (GRCm39) |
|
noncoding transcript |
Het |
Gpam |
C |
T |
19: 55,071,659 (GRCm39) |
E361K |
probably damaging |
Het |
Gps2 |
A |
G |
11: 69,806,023 (GRCm39) |
T126A |
probably benign |
Het |
Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
Gsg1 |
T |
A |
6: 135,218,368 (GRCm39) |
Q176L |
probably damaging |
Het |
Htra1 |
C |
T |
7: 130,585,446 (GRCm39) |
A412V |
possibly damaging |
Het |
Icosl |
C |
T |
10: 77,905,319 (GRCm39) |
|
probably benign |
Het |
Iqgap1 |
T |
C |
7: 80,372,813 (GRCm39) |
T1509A |
probably damaging |
Het |
Irag2 |
A |
G |
6: 145,083,946 (GRCm39) |
E37G |
probably benign |
Het |
Itgad |
T |
C |
7: 127,797,395 (GRCm39) |
|
probably null |
Het |
Kdm5a |
C |
A |
6: 120,406,977 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
T |
C |
12: 25,101,125 (GRCm39) |
L1017S |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,433,947 (GRCm39) |
Y898C |
probably damaging |
Het |
Man2b1 |
T |
A |
8: 85,822,413 (GRCm39) |
S804R |
probably damaging |
Het |
Miip |
A |
T |
4: 147,947,526 (GRCm39) |
F211L |
probably damaging |
Het |
Moxd1 |
T |
G |
10: 24,155,445 (GRCm39) |
|
probably null |
Het |
Moxd1 |
T |
G |
10: 24,163,034 (GRCm39) |
Y499D |
probably damaging |
Het |
Mrpl45 |
T |
C |
11: 97,207,577 (GRCm39) |
I24T |
probably benign |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Mthfr |
T |
A |
4: 148,135,817 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
A |
7: 141,404,547 (GRCm39) |
D827E |
unknown |
Het |
Myo1g |
G |
C |
11: 6,458,243 (GRCm39) |
L866V |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,468,170 (GRCm39) |
M475L |
probably benign |
Het |
Ncoa2 |
A |
C |
1: 13,244,590 (GRCm39) |
L703V |
probably damaging |
Het |
Ncoa4-ps |
A |
C |
12: 119,225,023 (GRCm39) |
|
noncoding transcript |
Het |
Nme6 |
T |
A |
9: 109,670,557 (GRCm39) |
Y69* |
probably null |
Het |
Nwd1 |
T |
A |
8: 73,397,714 (GRCm39) |
M651K |
probably benign |
Het |
Or4k15c |
A |
C |
14: 50,322,003 (GRCm39) |
I45S |
probably damaging |
Het |
Orc2 |
A |
T |
1: 58,513,977 (GRCm39) |
S298R |
possibly damaging |
Het |
Oscp1 |
A |
T |
4: 125,981,522 (GRCm39) |
E328V |
probably damaging |
Het |
Pan2 |
T |
C |
10: 128,153,838 (GRCm39) |
V1003A |
probably damaging |
Het |
Pik3r4 |
T |
C |
9: 105,559,507 (GRCm39) |
V1200A |
possibly damaging |
Het |
Prl |
T |
C |
13: 27,241,579 (GRCm39) |
|
probably benign |
Het |
Ptprk |
T |
C |
10: 28,351,232 (GRCm39) |
V575A |
probably benign |
Het |
Rflna |
A |
T |
5: 125,088,469 (GRCm39) |
S139C |
probably damaging |
Het |
Robo1 |
T |
C |
16: 72,539,038 (GRCm39) |
F27S |
probably benign |
Het |
Secisbp2 |
T |
C |
13: 51,819,460 (GRCm39) |
S347P |
probably benign |
Het |
Shmt1 |
A |
G |
11: 60,688,308 (GRCm39) |
|
probably benign |
Het |
Slc27a3 |
A |
G |
3: 90,296,477 (GRCm39) |
|
probably null |
Het |
Slc6a5 |
T |
C |
7: 49,585,957 (GRCm39) |
V425A |
probably damaging |
Het |
Slc8a3 |
A |
G |
12: 81,361,265 (GRCm39) |
V518A |
possibly damaging |
Het |
Slco1a4 |
A |
T |
6: 141,785,357 (GRCm39) |
Y78N |
probably damaging |
Het |
Stt3b |
A |
T |
9: 115,095,211 (GRCm39) |
H273Q |
probably damaging |
Het |
Tle6 |
T |
A |
10: 81,428,635 (GRCm39) |
N431I |
probably damaging |
Het |
Trim34b |
C |
A |
7: 103,979,118 (GRCm39) |
Q122K |
possibly damaging |
Het |
Trio |
C |
A |
15: 27,902,686 (GRCm39) |
R258S |
probably benign |
Het |
Ttc7 |
A |
T |
17: 87,600,306 (GRCm39) |
D23V |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,810,525 (GRCm39) |
M1K |
probably null |
Het |
Ufsp2 |
T |
C |
8: 46,447,126 (GRCm39) |
V391A |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,815,334 (GRCm39) |
L990S |
probably damaging |
Het |
Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
Zfp618 |
G |
A |
4: 63,017,519 (GRCm39) |
M234I |
probably benign |
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 |
|
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'- TTGCTTAGCACCAAACCCAG -3'
(R):5'- CCTTACTGCTCGGAGAATGG -3'
Sequencing Primer
(F):5'- ATCTATGCAGGTTTAAGGCCAGC -3'
(R):5'- TCGGAGAATGGTGGCCAC -3'
|
Posted On |
2016-07-06 |