Incidental Mutation 'R1490:Ceacam3'
| ID |
163648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam3
|
| Ensembl Gene |
ENSMUSG00000053228 |
| Gene Name |
CEA cell adhesion molecule 3 |
| Synonyms |
EG384557, cea12, Psg24 |
| MMRRC Submission |
039542-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1490 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16884207-16898178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16897071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 679
(D679G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108491]
|
| AlphaFold |
E9Q6J4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108491
AA Change: D679G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104131
Gene: ENSMUSG00000053228
AA Change: D679G
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
2.83e-3 |
SMART |
|
IG
|
160 |
261 |
6.31e-1 |
SMART |
|
IG
|
280 |
379 |
8.01e-3 |
SMART |
|
IG
|
398 |
497 |
2.08e-1 |
SMART |
|
IG
|
514 |
613 |
1.26e0 |
SMART |
|
IGc2
|
631 |
695 |
7.64e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
G |
A |
10: 83,356,234 (GRCm39) |
T52I |
probably damaging |
Het |
| Arhgef28 |
G |
A |
13: 98,114,952 (GRCm39) |
R633W |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,162,389 (GRCm39) |
N507S |
possibly damaging |
Het |
| Bsn |
A |
G |
9: 107,991,193 (GRCm39) |
S1520P |
probably benign |
Het |
| Cacul1 |
G |
T |
19: 60,568,837 (GRCm39) |
A107E |
probably damaging |
Het |
| Cd74 |
A |
G |
18: 60,944,438 (GRCm39) |
D216G |
probably damaging |
Het |
| Cdh16 |
A |
T |
8: 105,348,702 (GRCm39) |
W109R |
probably damaging |
Het |
| Cdip1 |
C |
T |
16: 4,586,775 (GRCm39) |
V100I |
probably damaging |
Het |
| Comp |
A |
G |
8: 70,826,563 (GRCm39) |
D46G |
possibly damaging |
Het |
| Dlx3 |
T |
C |
11: 95,011,430 (GRCm39) |
Y95H |
probably benign |
Het |
| Dmrta2 |
T |
C |
4: 109,837,072 (GRCm39) |
S5P |
unknown |
Het |
| E130308A19Rik |
A |
G |
4: 59,719,746 (GRCm39) |
Y426C |
probably damaging |
Het |
| Entpd3 |
A |
G |
9: 120,383,225 (GRCm39) |
S87G |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,473,888 (GRCm39) |
R232G |
probably damaging |
Het |
| Gart |
A |
T |
16: 91,421,232 (GRCm39) |
V812D |
probably damaging |
Het |
| Gm10153 |
C |
T |
7: 141,743,879 (GRCm39) |
C83Y |
unknown |
Het |
| Gpd2 |
T |
C |
2: 57,245,487 (GRCm39) |
V394A |
probably damaging |
Het |
| Hpcal1 |
A |
T |
12: 17,836,225 (GRCm39) |
E18D |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,844,530 (GRCm39) |
D156G |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,753,595 (GRCm39) |
K510E |
probably benign |
Het |
| Ms4a19 |
A |
G |
19: 11,118,902 (GRCm39) |
I69T |
probably benign |
Het |
| Mtmr4 |
G |
A |
11: 87,503,051 (GRCm39) |
R1035Q |
probably damaging |
Het |
| Myh6 |
T |
A |
14: 55,200,175 (GRCm39) |
K235* |
probably null |
Het |
| Nedd1 |
A |
G |
10: 92,536,660 (GRCm39) |
F214S |
probably damaging |
Het |
| Or1e32 |
A |
G |
11: 73,705,197 (GRCm39) |
V237A |
possibly damaging |
Het |
| Or1o3 |
A |
G |
17: 37,573,733 (GRCm39) |
M274T |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,672 (GRCm39) |
M28T |
probably benign |
Het |
| Or52e15 |
A |
G |
7: 104,645,700 (GRCm39) |
I137T |
possibly damaging |
Het |
| Pfkfb2 |
A |
C |
1: 130,625,626 (GRCm39) |
|
probably null |
Het |
| Pfkfb4 |
T |
C |
9: 108,856,688 (GRCm39) |
L398P |
probably damaging |
Het |
| Pfn3 |
T |
G |
13: 55,562,732 (GRCm39) |
D83A |
probably damaging |
Het |
| Pi4ka |
C |
A |
16: 17,204,132 (GRCm39) |
W54L |
probably damaging |
Het |
| Ppp3r1 |
A |
G |
11: 17,148,275 (GRCm39) |
D161G |
probably benign |
Het |
| Prrc2a |
A |
G |
17: 35,372,230 (GRCm39) |
S1757P |
probably benign |
Het |
| Samd7 |
A |
G |
3: 30,812,502 (GRCm39) |
E314G |
probably benign |
Het |
| Slc17a4 |
A |
G |
13: 24,088,736 (GRCm39) |
I217T |
probably benign |
Het |
| Slc22a1 |
A |
T |
17: 12,881,780 (GRCm39) |
|
probably null |
Het |
| Slc7a7 |
C |
T |
14: 54,646,103 (GRCm39) |
R120H |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,721,104 (GRCm39) |
H905Q |
probably benign |
Het |
| Thada |
G |
A |
17: 84,754,029 (GRCm39) |
T314I |
possibly damaging |
Het |
| Tirap |
ACTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTG |
9: 35,100,362 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
C |
14: 50,600,633 (GRCm39) |
H873P |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,757,611 (GRCm39) |
T135S |
possibly damaging |
Het |
| Tmem116 |
T |
C |
5: 121,633,174 (GRCm39) |
S183P |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,550 (GRCm39) |
I572K |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,092,038 (GRCm39) |
T523I |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,916,687 (GRCm39) |
Q364* |
probably null |
Het |
| Vmn1r61 |
T |
C |
7: 5,614,242 (GRCm39) |
Q24R |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,874,495 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
G |
A |
13: 67,405,573 (GRCm39) |
P286S |
probably damaging |
Het |
| Zfp68 |
A |
T |
5: 138,605,091 (GRCm39) |
C373S |
probably benign |
Het |
| Zfp768 |
T |
A |
7: 126,942,803 (GRCm39) |
I442F |
probably damaging |
Het |
| Zfp990 |
A |
G |
4: 145,263,853 (GRCm39) |
R284G |
probably benign |
Het |
|
| Other mutations in Ceacam3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01161:Ceacam3
|
APN |
7 |
16,885,782 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01510:Ceacam3
|
APN |
7 |
16,893,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01830:Ceacam3
|
APN |
7 |
16,888,925 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02155:Ceacam3
|
APN |
7 |
16,896,906 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02281:Ceacam3
|
APN |
7 |
16,895,656 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02301:Ceacam3
|
APN |
7 |
16,897,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02320:Ceacam3
|
APN |
7 |
16,895,865 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02514:Ceacam3
|
APN |
7 |
16,896,906 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02929:Ceacam3
|
APN |
7 |
16,892,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03143:Ceacam3
|
APN |
7 |
16,892,045 (GRCm39) |
nonsense |
probably null |
|
|
IGL03269:Ceacam3
|
APN |
7 |
16,895,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0408:Ceacam3
|
UTSW |
7 |
16,885,808 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0591:Ceacam3
|
UTSW |
7 |
16,885,808 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1274:Ceacam3
|
UTSW |
7 |
16,897,064 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1376:Ceacam3
|
UTSW |
7 |
16,897,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1376:Ceacam3
|
UTSW |
7 |
16,897,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Ceacam3
|
UTSW |
7 |
16,893,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Ceacam3
|
UTSW |
7 |
16,892,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2345:Ceacam3
|
UTSW |
7 |
16,888,925 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2367:Ceacam3
|
UTSW |
7 |
16,885,813 (GRCm39) |
splice site |
probably null |
|
|
R2403:Ceacam3
|
UTSW |
7 |
16,895,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4030:Ceacam3
|
UTSW |
7 |
16,892,267 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4240:Ceacam3
|
UTSW |
7 |
16,893,949 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5305:Ceacam3
|
UTSW |
7 |
16,885,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Ceacam3
|
UTSW |
7 |
16,892,296 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5433:Ceacam3
|
UTSW |
7 |
16,893,808 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5538:Ceacam3
|
UTSW |
7 |
16,892,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5638:Ceacam3
|
UTSW |
7 |
16,893,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5787:Ceacam3
|
UTSW |
7 |
16,888,971 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5891:Ceacam3
|
UTSW |
7 |
16,885,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5918:Ceacam3
|
UTSW |
7 |
16,893,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6074:Ceacam3
|
UTSW |
7 |
16,885,484 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6386:Ceacam3
|
UTSW |
7 |
16,892,144 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6439:Ceacam3
|
UTSW |
7 |
16,892,253 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6455:Ceacam3
|
UTSW |
7 |
16,895,863 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7150:Ceacam3
|
UTSW |
7 |
16,885,487 (GRCm39) |
missense |
|
|
|
R7196:Ceacam3
|
UTSW |
7 |
16,888,881 (GRCm39) |
missense |
|
|
|
R7201:Ceacam3
|
UTSW |
7 |
16,892,163 (GRCm39) |
nonsense |
probably null |
|
|
R7731:Ceacam3
|
UTSW |
7 |
16,892,275 (GRCm39) |
missense |
|
|
|
R7833:Ceacam3
|
UTSW |
7 |
16,893,778 (GRCm39) |
missense |
|
|
|
R8202:Ceacam3
|
UTSW |
7 |
16,896,953 (GRCm39) |
missense |
|
|
|
R8237:Ceacam3
|
UTSW |
7 |
16,897,082 (GRCm39) |
missense |
|
|
|
R8420:Ceacam3
|
UTSW |
7 |
16,895,608 (GRCm39) |
missense |
|
|
|
R8696:Ceacam3
|
UTSW |
7 |
16,893,937 (GRCm39) |
missense |
|
|
|
R9381:Ceacam3
|
UTSW |
7 |
16,893,715 (GRCm39) |
missense |
|
|
|
R9616:Ceacam3
|
UTSW |
7 |
16,892,078 (GRCm39) |
missense |
|
|
|
R9633:Ceacam3
|
UTSW |
7 |
16,895,688 (GRCm39) |
missense |
|
|
|
R9686:Ceacam3
|
UTSW |
7 |
16,892,123 (GRCm39) |
missense |
|
|
|
R9727:Ceacam3
|
UTSW |
7 |
16,892,262 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGAGAGTCACGGACACCACAG -3'
(R):5'- AAGTCTCTATGATCTGGCCTGCCC -3'
Sequencing Primer
(F):5'- CCACAGTCAGAGTGCAGAGC -3'
(R):5'- AGATGTGACTCACCATGCTG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation