Incidental Mutation 'R8420:Ceacam3'
| ID |
653142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam3
|
| Ensembl Gene |
ENSMUSG00000053228 |
| Gene Name |
CEA cell adhesion molecule 3 |
| Synonyms |
EG384557, cea12, Psg24 |
| MMRRC Submission |
067773-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8420 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
16884207-16898178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 16895608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 526
(V526D)
|
| 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: V526D
| 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: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,937,746 (GRCm39) |
S11P |
unknown |
Het |
| Adrb2 |
T |
C |
18: 62,312,004 (GRCm39) |
T274A |
probably damaging |
Het |
| Aph1b |
A |
G |
9: 66,701,503 (GRCm39) |
S45P |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,887,806 (GRCm39) |
D321E |
|
Het |
| C1qbp |
A |
G |
11: 70,869,543 (GRCm39) |
V180A |
possibly damaging |
Het |
| C4b |
G |
T |
17: 34,953,513 (GRCm39) |
A990D |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,915,612 (GRCm39) |
S123T |
possibly damaging |
Het |
| Cdh18 |
A |
C |
15: 23,474,138 (GRCm39) |
E669D |
possibly damaging |
Het |
| Cenpf |
C |
T |
1: 189,404,782 (GRCm39) |
C349Y |
probably damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,655,379 (GRCm39) |
V326A |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,783,454 (GRCm39) |
Q2023R |
probably damaging |
Het |
| Exd2 |
A |
G |
12: 80,522,771 (GRCm39) |
R77G |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,287,148 (GRCm39) |
K1410* |
probably null |
Het |
| Eya2 |
A |
G |
2: 165,608,988 (GRCm39) |
T443A |
probably damaging |
Het |
| Fam135a |
G |
A |
1: 24,067,569 (GRCm39) |
T1100M |
probably benign |
Het |
| Foxp2 |
G |
T |
6: 15,403,866 (GRCm39) |
R381L |
unknown |
Het |
| Grm7 |
T |
G |
6: 111,057,315 (GRCm39) |
V305G |
probably benign |
Het |
| Gzma |
G |
A |
13: 113,237,464 (GRCm39) |
R8W |
probably benign |
Het |
| H6pd |
T |
C |
4: 150,066,133 (GRCm39) |
E759G |
probably benign |
Het |
| Ift27 |
A |
G |
15: 78,048,391 (GRCm39) |
V154A |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,950,141 (GRCm39) |
S1429T |
probably benign |
Het |
| Lrrn1 |
T |
A |
6: 107,546,294 (GRCm39) |
D697E |
probably benign |
Het |
| Mcrs1 |
A |
T |
15: 99,141,575 (GRCm39) |
I387N |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,448,807 (GRCm39) |
T7675A |
probably damaging |
Het |
| Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
| Nid1 |
C |
A |
13: 13,612,416 (GRCm39) |
L44I |
possibly damaging |
Het |
| Or2f2 |
A |
T |
6: 42,767,644 (GRCm39) |
T224S |
possibly damaging |
Het |
| Or4m1 |
T |
C |
14: 50,558,233 (GRCm39) |
T20A |
probably benign |
Het |
| Or5h27 |
A |
G |
16: 59,006,117 (GRCm39) |
I243T |
unknown |
Het |
| Or8k1 |
T |
A |
2: 86,047,457 (GRCm39) |
E199V |
probably damaging |
Het |
| Pde11a |
C |
T |
2: 75,889,354 (GRCm39) |
D707N |
probably damaging |
Het |
| Pigf |
A |
T |
17: 87,327,910 (GRCm39) |
L119* |
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,820,277 (GRCm39) |
C1679* |
probably null |
Het |
| Prnp |
A |
G |
2: 131,778,669 (GRCm39) |
N107S |
probably benign |
Het |
| Ptgfr |
C |
T |
3: 151,541,053 (GRCm39) |
V152M |
possibly damaging |
Het |
| Rap2b |
A |
G |
3: 61,271,805 (GRCm39) |
|
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,657,300 (GRCm39) |
T485A |
probably damaging |
Het |
| Sec23b |
A |
G |
2: 144,401,234 (GRCm39) |
T32A |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,437,679 (GRCm39) |
|
probably null |
Het |
| Slc13a5 |
A |
G |
11: 72,148,210 (GRCm39) |
L275P |
probably damaging |
Het |
| Slc20a1 |
C |
T |
2: 129,041,784 (GRCm39) |
A49V |
probably damaging |
Het |
| Slc35g2 |
A |
G |
9: 100,435,224 (GRCm39) |
I149T |
probably benign |
Het |
| Syk |
T |
A |
13: 52,778,763 (GRCm39) |
I283K |
probably benign |
Het |
| Taf7l2 |
T |
C |
10: 115,948,440 (GRCm39) |
Y362C |
probably benign |
Het |
| Tnfsf13b |
G |
A |
8: 10,056,795 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,701,476 (GRCm39) |
V1592A |
probably benign |
Het |
| Vopp1 |
T |
C |
6: 57,739,379 (GRCm39) |
*123W |
probably null |
Het |
| Xpo4 |
T |
A |
14: 57,841,913 (GRCm39) |
Q467H |
probably damaging |
Het |
| Zdhhc22 |
A |
C |
12: 87,035,143 (GRCm39) |
V103G |
possibly damaging |
Het |
| Zfp868 |
A |
G |
8: 70,064,160 (GRCm39) |
S392P |
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 |
|
|
|
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'- ACAGGACCCCATCTTTTCAC -3'
(R):5'- CCTTGAGTTTCAAACCGTCTG -3'
Sequencing Primer
(F):5'- GGACCCCATCTTTTCACCCAAG -3'
(R):5'- AGGTGTATAATCCAGTGTCCTTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation