Incidental Mutation 'R5433:Ceacam3'
| ID |
428152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam3
|
| Ensembl Gene |
ENSMUSG00000053228 |
| Gene Name |
CEA cell adhesion molecule 3 |
| Synonyms |
EG384557, cea12, Psg24 |
| MMRRC Submission |
042998-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5433 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16884207-16898178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 16893808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 440
(A440T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108491]
|
| AlphaFold |
E9Q6J4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065540
AA Change: A440T
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000069892
Gene: ENSMUSG00000053228
AA Change: A440T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
IG
|
35 |
136 |
2.83e-3 |
SMART |
|
IG
|
155 |
256 |
6.31e-1 |
SMART |
|
IG
|
275 |
376 |
1.42e-3 |
SMART |
|
IG
|
395 |
494 |
2.08e-1 |
SMART |
|
IG
|
511 |
610 |
1.26e0 |
SMART |
|
IGc2
|
628 |
692 |
7.64e-9 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108491
AA Change: A440T
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104131
Gene: ENSMUSG00000053228
AA Change: A440T
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019D03Rik |
T |
C |
1: 52,964,657 (GRCm39) |
S24G |
probably damaging |
Het |
| 1810064F22Rik |
A |
G |
9: 22,119,039 (GRCm39) |
|
noncoding transcript |
Het |
| Aacs |
A |
T |
5: 125,592,078 (GRCm39) |
M589L |
probably benign |
Het |
| Adamts8 |
A |
C |
9: 30,873,012 (GRCm39) |
H739P |
probably benign |
Het |
| Atp8b2 |
T |
C |
3: 89,860,216 (GRCm39) |
|
probably benign |
Het |
| BC030500 |
A |
G |
8: 59,366,043 (GRCm39) |
|
probably benign |
Het |
| Btnl9 |
T |
A |
11: 49,066,830 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
G |
T |
18: 60,940,993 (GRCm39) |
A31S |
probably benign |
Het |
| Ces1d |
G |
A |
8: 93,912,664 (GRCm39) |
T258I |
probably benign |
Het |
| Col10a1 |
A |
G |
10: 34,266,735 (GRCm39) |
|
probably benign |
Het |
| Coro1b |
C |
T |
19: 4,203,449 (GRCm39) |
A430V |
probably benign |
Het |
| Cyp2c65 |
A |
T |
19: 39,081,928 (GRCm39) |
I485L |
probably benign |
Het |
| Dio1 |
A |
T |
4: 107,163,977 (GRCm39) |
|
probably benign |
Het |
| Dmxl1 |
G |
A |
18: 50,000,966 (GRCm39) |
|
probably null |
Het |
| Dynlt5 |
A |
G |
4: 102,859,700 (GRCm39) |
E84G |
possibly damaging |
Het |
| Elp6 |
A |
G |
9: 110,144,851 (GRCm39) |
Y136C |
probably damaging |
Het |
| Gon4l |
A |
T |
3: 88,803,532 (GRCm39) |
Q1382L |
possibly damaging |
Het |
| Guca1a |
T |
C |
17: 47,711,295 (GRCm39) |
E17G |
probably damaging |
Het |
| Gucy2d |
G |
A |
7: 98,098,982 (GRCm39) |
G267E |
probably damaging |
Het |
| Gvin3 |
T |
A |
7: 106,199,314 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
T |
A |
4: 137,256,105 (GRCm39) |
|
probably null |
Het |
| Il1a |
G |
T |
2: 129,149,821 (GRCm39) |
D26E |
possibly damaging |
Het |
| Il22b |
T |
A |
10: 118,130,789 (GRCm39) |
I36F |
probably damaging |
Het |
| Kcna1 |
A |
T |
6: 126,620,075 (GRCm39) |
F82I |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lamtor5 |
T |
G |
3: 107,189,323 (GRCm39) |
C120G |
probably benign |
Het |
| Lars1 |
A |
G |
18: 42,384,363 (GRCm39) |
C72R |
possibly damaging |
Het |
| Lrrfip1 |
T |
G |
1: 91,014,848 (GRCm39) |
|
probably null |
Het |
| Mapkapk3 |
T |
C |
9: 107,133,491 (GRCm39) |
D349G |
probably damaging |
Het |
| Mknk2 |
A |
T |
10: 80,503,059 (GRCm39) |
I421N |
probably benign |
Het |
| Myh6 |
A |
G |
14: 55,191,381 (GRCm39) |
I820T |
probably benign |
Het |
| Notch2 |
T |
G |
3: 98,033,450 (GRCm39) |
V1182G |
probably damaging |
Het |
| Or1af1 |
T |
G |
2: 37,109,684 (GRCm39) |
F61C |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2z2 |
C |
T |
11: 58,346,680 (GRCm39) |
V32M |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,245,632 (GRCm39) |
S641T |
probably damaging |
Het |
| Prok1 |
T |
A |
3: 107,146,949 (GRCm39) |
H6L |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,000,468 (GRCm39) |
V1172E |
probably damaging |
Het |
| Rasal3 |
C |
T |
17: 32,612,575 (GRCm39) |
R762Q |
probably benign |
Het |
| Rgs20 |
G |
T |
1: 5,140,333 (GRCm39) |
A23E |
possibly damaging |
Het |
| Rprd1a |
T |
C |
18: 24,640,288 (GRCm39) |
T163A |
probably benign |
Het |
| Rrm1 |
A |
T |
7: 102,114,974 (GRCm39) |
N37I |
probably damaging |
Het |
| Shc4 |
T |
A |
2: 125,481,350 (GRCm39) |
E520V |
probably damaging |
Het |
| Slc14a2 |
G |
T |
18: 78,252,143 (GRCm39) |
P56Q |
probably damaging |
Het |
| Slc22a3 |
C |
T |
17: 12,677,377 (GRCm39) |
G264S |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,059,294 (GRCm39) |
E770G |
probably damaging |
Het |
| Svop |
A |
G |
5: 114,198,186 (GRCm39) |
V129A |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,232,663 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,951,105 (GRCm39) |
|
probably benign |
Het |
| Tmem30a |
T |
A |
9: 79,687,930 (GRCm39) |
I80F |
probably damaging |
Het |
| Vmn2r16 |
G |
T |
5: 109,511,708 (GRCm39) |
L638F |
probably damaging |
Het |
| Xkr7 |
T |
A |
2: 152,896,244 (GRCm39) |
I366N |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,990,998 (GRCm39) |
|
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 |
|
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 |
|
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'- TGATCCCATGTGGTGACTTTTC -3'
(R):5'- CAGCTGGAAGCCATAGAGAGTC -3'
Sequencing Primer
(F):5'- AGCCTCCTTTTCCACGTG -3'
(R):5'- CTGGAAGCCATAGAGAGTCACTTAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation