Incidental Mutation 'R9633:Ceacam3'
| ID |
725663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam3
|
| Ensembl Gene |
ENSMUSG00000053228 |
| Gene Name |
CEA cell adhesion molecule 3 |
| Synonyms |
EG384557, cea12, Psg24 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9633 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16884207-16898178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16895688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 553
(N553D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108491]
|
| AlphaFold |
E9Q6J4 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000104131
Gene: ENSMUSG00000053228
AA Change: N553D
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
A |
G |
4: 106,613,178 (GRCm39) |
V319A |
probably damaging |
Het |
| Afap1l1 |
A |
C |
18: 61,890,795 (GRCm39) |
S53A |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,600,125 (GRCm39) |
N1650K |
probably damaging |
Het |
| Atf6b |
T |
A |
17: 34,872,507 (GRCm39) |
V553E |
possibly damaging |
Het |
| Avl9 |
T |
A |
6: 56,707,634 (GRCm39) |
I193N |
probably damaging |
Het |
| Dnah3 |
C |
A |
7: 119,550,216 (GRCm39) |
V389L |
probably benign |
Het |
| Erich6 |
T |
C |
3: 58,537,277 (GRCm39) |
M246V |
probably benign |
Het |
| F830016B08Rik |
A |
T |
18: 60,432,965 (GRCm39) |
D16V |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,060,776 (GRCm39) |
Y483N |
probably damaging |
Het |
| Fmo4 |
T |
A |
1: 162,631,191 (GRCm39) |
M259L |
probably benign |
Het |
| Gnat2 |
T |
A |
3: 108,002,770 (GRCm39) |
D59E |
probably benign |
Het |
| Izumo3 |
T |
A |
4: 92,034,795 (GRCm39) |
Y94F |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,781,444 (GRCm39) |
H772L |
probably benign |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
C |
T |
15: 101,586,996 (GRCm39) |
V259M |
probably benign |
Het |
| Lingo2 |
A |
G |
4: 35,709,885 (GRCm39) |
C32R |
|
Het |
| Lrrtm4 |
C |
T |
6: 80,000,064 (GRCm39) |
T492M |
probably damaging |
Het |
| Maea |
T |
A |
5: 33,526,050 (GRCm39) |
M242K |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,736,206 (GRCm39) |
T341A |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mmadhc |
A |
T |
2: 50,178,988 (GRCm39) |
S143R |
probably benign |
Het |
| Ms4a8a |
A |
G |
19: 11,056,956 (GRCm39) |
V42A |
probably benign |
Het |
| N4bp2l2 |
A |
T |
5: 150,585,103 (GRCm39) |
H292Q |
probably benign |
Het |
| Nkx2-2 |
A |
G |
2: 147,027,686 (GRCm39) |
Y85H |
possibly damaging |
Het |
| Pramel14 |
T |
C |
4: 143,720,818 (GRCm39) |
K41R |
possibly damaging |
Het |
| Psmb9 |
T |
A |
17: 34,402,119 (GRCm39) |
D159V |
probably damaging |
Het |
| Rgs4 |
T |
A |
1: 169,572,843 (GRCm39) |
D31V |
possibly damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc22a14 |
A |
G |
9: 119,008,528 (GRCm39) |
S247P |
probably benign |
Het |
| Slc26a7 |
G |
A |
4: 14,524,540 (GRCm39) |
T448I |
possibly damaging |
Het |
| Slc7a14 |
T |
A |
3: 31,278,166 (GRCm39) |
T480S |
probably benign |
Het |
| Spocd1 |
T |
C |
4: 129,850,463 (GRCm39) |
S830P |
unknown |
Het |
| Sycp2 |
A |
G |
2: 177,998,254 (GRCm39) |
S1089P |
probably damaging |
Het |
| Tcf4 |
A |
T |
18: 69,726,382 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,965,813 (GRCm39) |
V457A |
probably benign |
Het |
| Tmem131 |
A |
T |
1: 36,847,069 (GRCm39) |
I1343N |
probably damaging |
Het |
| Tnrc6c |
G |
A |
11: 117,638,009 (GRCm39) |
A1164T |
probably damaging |
Het |
| Tomm5 |
G |
A |
4: 45,107,982 (GRCm39) |
R18W |
probably damaging |
Het |
| Ubxn7 |
T |
C |
16: 32,200,248 (GRCm39) |
S335P |
probably benign |
Het |
| Unc5c |
A |
C |
3: 141,495,654 (GRCm39) |
T508P |
probably damaging |
Het |
| Upp1 |
G |
A |
11: 9,084,909 (GRCm39) |
M209I |
|
Het |
| Vmn1r213 |
A |
G |
13: 23,195,519 (GRCm39) |
D34G |
unknown |
Het |
| Vmn1r235 |
G |
T |
17: 21,482,330 (GRCm39) |
W218C |
possibly damaging |
Het |
| Vmn1r235 |
G |
T |
17: 21,482,329 (GRCm39) |
W218L |
probably benign |
Het |
| Vmn2r57 |
T |
C |
7: 41,076,006 (GRCm39) |
E502G |
probably benign |
Het |
| Wwc2 |
GCC |
GCCC |
8: 48,304,959 (GRCm39) |
|
probably null |
Het |
| Zfc3h1 |
T |
A |
10: 115,247,852 (GRCm39) |
H1018Q |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,710,421 (GRCm39) |
S715T |
probably damaging |
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 |
|
R1490:Ceacam3
|
UTSW |
7 |
16,897,071 (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 |
|
|
|
R9686:Ceacam3
|
UTSW |
7 |
16,892,123 (GRCm39) |
missense |
|
|
|
R9727:Ceacam3
|
UTSW |
7 |
16,892,262 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGACCCCATCTTTTCAC -3'
(R):5'- GGATGTGCACATGTATTCCTTGAG -3'
Sequencing Primer
(F):5'- GGACCCCATCTTTTCACCCAAG -3'
(R):5'- GAGTTTCAAACCGTCTGTTTAAGG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation