Incidental Mutation 'R1270:Ceacam1'
ID |
151272 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ceacam1
|
Ensembl Gene |
ENSMUSG00000074272 |
Gene Name |
CEA cell adhesion molecule 1 |
Synonyms |
C-CAM, Hv-2, mmCGM1, Hv2, Cea7, mCEA1, MHVR1, CD66a, Cc1, Cea-1, mmCGM2, Cea-7, Bgp1, Mhv-1, Cea1, Bgp |
MMRRC Submission |
039336-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R1270 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
25161132-25177028 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 25165739 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146066
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098666]
[ENSMUST00000098668]
[ENSMUST00000098669]
[ENSMUST00000098669]
[ENSMUST00000205308]
[ENSMUST00000206171]
[ENSMUST00000206171]
[ENSMUST00000206583]
[ENSMUST00000206687]
[ENSMUST00000206687]
[ENSMUST00000206676]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000098666
|
SMART Domains |
Protein: ENSMUSP00000096263 Gene: ENSMUSG00000074272
Domain | Start | End | E-Value | Type |
Pfam:V-set
|
18 |
140 |
1e-21 |
PFAM |
IGc2
|
158 |
224 |
1.61e-7 |
SMART |
IGc2
|
252 |
308 |
5.04e-9 |
SMART |
IGc2
|
337 |
401 |
8.37e-15 |
SMART |
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000098668
|
SMART Domains |
Protein: ENSMUSP00000096265 Gene: ENSMUSG00000074272
Domain | Start | End | E-Value | Type |
Pfam:V-set
|
12 |
140 |
2.4e-21 |
PFAM |
IGc2
|
157 |
221 |
8.37e-15 |
SMART |
transmembrane domain
|
246 |
268 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000098669
|
SMART Domains |
Protein: ENSMUSP00000096266 Gene: ENSMUSG00000074272
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
Pfam:V-set
|
39 |
141 |
3.6e-13 |
PFAM |
IGc2
|
158 |
224 |
1.61e-7 |
SMART |
IGc2
|
252 |
308 |
5.04e-9 |
SMART |
IGc2
|
337 |
401 |
8.37e-15 |
SMART |
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000098669
|
SMART Domains |
Protein: ENSMUSP00000096266 Gene: ENSMUSG00000074272
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
Pfam:V-set
|
39 |
141 |
3.6e-13 |
PFAM |
IGc2
|
158 |
224 |
1.61e-7 |
SMART |
IGc2
|
252 |
308 |
5.04e-9 |
SMART |
IGc2
|
337 |
401 |
8.37e-15 |
SMART |
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205308
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206171
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206171
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206300
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206583
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206687
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206687
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206676
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206717
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
Validation Efficiency |
97% (36/37) |
MGI Phenotype |
PHENOTYPE: Mice lacking appreciable levels of the two isoforms containing 4 Ig domains and having increased levels of the two isoforms containing 2 Ig domains are viable and fertile. They are significantly more resistant to mouse hepatitis virus than wild-type mice. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
C |
T |
11: 94,248,210 (GRCm39) |
R1129Q |
probably damaging |
Het |
Adam7 |
T |
A |
14: 68,765,118 (GRCm39) |
K93M |
probably damaging |
Het |
Aldh1a2 |
T |
G |
9: 71,188,988 (GRCm39) |
L301V |
probably benign |
Het |
Alg9 |
A |
G |
9: 50,698,872 (GRCm39) |
|
probably benign |
Het |
Aspg |
C |
T |
12: 112,082,881 (GRCm39) |
T187I |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,006,333 (GRCm39) |
H1662Q |
probably damaging |
Het |
C4a |
A |
G |
17: 35,033,505 (GRCm39) |
|
noncoding transcript |
Het |
Cdh2 |
T |
G |
18: 16,760,614 (GRCm39) |
|
probably benign |
Het |
Cep250 |
G |
A |
2: 155,832,601 (GRCm39) |
V1509I |
probably benign |
Het |
D130043K22Rik |
T |
C |
13: 25,041,321 (GRCm39) |
S248P |
probably benign |
Het |
Dgkd |
A |
T |
1: 87,861,847 (GRCm39) |
M801L |
probably damaging |
Het |
Edc4 |
A |
G |
8: 106,617,896 (GRCm39) |
E1152G |
possibly damaging |
Het |
Enkd1 |
A |
G |
8: 106,430,533 (GRCm39) |
I334T |
probably damaging |
Het |
Gli3 |
C |
T |
13: 15,898,329 (GRCm39) |
A803V |
probably benign |
Het |
Glrx3 |
A |
G |
7: 137,055,143 (GRCm39) |
N95S |
probably benign |
Het |
Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
Kank2 |
A |
T |
9: 21,684,056 (GRCm39) |
N724K |
probably damaging |
Het |
Kctd20 |
A |
G |
17: 29,185,905 (GRCm39) |
D416G |
possibly damaging |
Het |
Lmtk3 |
A |
G |
7: 45,443,252 (GRCm39) |
E645G |
probably damaging |
Het |
Mrgpra9 |
A |
T |
7: 46,902,531 (GRCm39) |
|
probably null |
Het |
Muc1 |
T |
A |
3: 89,139,414 (GRCm39) |
Y605N |
probably damaging |
Het |
Or4a47 |
C |
T |
2: 89,665,666 (GRCm39) |
V208M |
possibly damaging |
Het |
Or8g17 |
A |
C |
9: 38,930,543 (GRCm39) |
I98R |
possibly damaging |
Het |
Prx |
T |
A |
7: 27,218,355 (GRCm39) |
I952N |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,799,856 (GRCm39) |
Y90* |
probably null |
Het |
Swt1 |
A |
T |
1: 151,260,142 (GRCm39) |
N752K |
probably benign |
Het |
Taar1 |
T |
C |
10: 23,796,431 (GRCm39) |
V43A |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,932,486 (GRCm39) |
N1702D |
probably damaging |
Het |
Tff2 |
C |
T |
17: 31,363,143 (GRCm39) |
|
probably null |
Het |
Trim2 |
G |
A |
3: 84,074,984 (GRCm39) |
A686V |
probably damaging |
Het |
Ube2q2l |
A |
T |
6: 136,378,785 (GRCm39) |
I15N |
probably damaging |
Het |
|
Other mutations in Ceacam1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00701:Ceacam1
|
APN |
7 |
25,171,339 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01766:Ceacam1
|
APN |
7 |
25,171,420 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02094:Ceacam1
|
APN |
7 |
25,173,968 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02869:Ceacam1
|
APN |
7 |
25,175,966 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03325:Ceacam1
|
APN |
7 |
25,175,912 (GRCm39) |
missense |
possibly damaging |
0.83 |
PIT4445001:Ceacam1
|
UTSW |
7 |
25,175,881 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4810001:Ceacam1
|
UTSW |
7 |
25,171,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R0464:Ceacam1
|
UTSW |
7 |
25,171,442 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1771:Ceacam1
|
UTSW |
7 |
25,171,469 (GRCm39) |
missense |
probably benign |
0.17 |
R1819:Ceacam1
|
UTSW |
7 |
25,163,285 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1964:Ceacam1
|
UTSW |
7 |
25,174,133 (GRCm39) |
missense |
probably benign |
0.13 |
R2048:Ceacam1
|
UTSW |
7 |
25,176,113 (GRCm39) |
missense |
probably benign |
0.09 |
R2760:Ceacam1
|
UTSW |
7 |
25,176,899 (GRCm39) |
missense |
probably damaging |
0.99 |
R2857:Ceacam1
|
UTSW |
7 |
25,173,442 (GRCm39) |
missense |
probably damaging |
0.96 |
R2859:Ceacam1
|
UTSW |
7 |
25,173,442 (GRCm39) |
missense |
probably damaging |
0.96 |
R3546:Ceacam1
|
UTSW |
7 |
25,171,339 (GRCm39) |
missense |
probably benign |
0.07 |
R4471:Ceacam1
|
UTSW |
7 |
25,174,025 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4606:Ceacam1
|
UTSW |
7 |
25,173,951 (GRCm39) |
missense |
probably damaging |
0.97 |
R4810:Ceacam1
|
UTSW |
7 |
25,173,945 (GRCm39) |
makesense |
probably null |
|
R5291:Ceacam1
|
UTSW |
7 |
25,171,256 (GRCm39) |
missense |
probably damaging |
0.99 |
R5405:Ceacam1
|
UTSW |
7 |
25,163,290 (GRCm39) |
missense |
probably benign |
0.41 |
R5423:Ceacam1
|
UTSW |
7 |
25,173,951 (GRCm39) |
missense |
probably benign |
0.01 |
R5851:Ceacam1
|
UTSW |
7 |
25,174,025 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5967:Ceacam1
|
UTSW |
7 |
25,174,167 (GRCm39) |
missense |
probably damaging |
0.97 |
R6216:Ceacam1
|
UTSW |
7 |
25,171,421 (GRCm39) |
missense |
probably benign |
0.19 |
R6235:Ceacam1
|
UTSW |
7 |
25,171,217 (GRCm39) |
splice site |
probably null |
|
R6323:Ceacam1
|
UTSW |
7 |
25,174,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R6545:Ceacam1
|
UTSW |
7 |
25,173,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R7371:Ceacam1
|
UTSW |
7 |
25,174,145 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7760:Ceacam1
|
UTSW |
7 |
25,171,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R7790:Ceacam1
|
UTSW |
7 |
25,173,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R7869:Ceacam1
|
UTSW |
7 |
25,175,954 (GRCm39) |
missense |
probably damaging |
0.97 |
R7934:Ceacam1
|
UTSW |
7 |
25,163,220 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8189:Ceacam1
|
UTSW |
7 |
25,173,343 (GRCm39) |
missense |
probably damaging |
0.96 |
R8907:Ceacam1
|
UTSW |
7 |
25,171,444 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8967:Ceacam1
|
UTSW |
7 |
25,163,297 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9055:Ceacam1
|
UTSW |
7 |
25,171,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R9149:Ceacam1
|
UTSW |
7 |
25,173,360 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9529:Ceacam1
|
UTSW |
7 |
25,171,231 (GRCm39) |
missense |
possibly damaging |
0.92 |
X0028:Ceacam1
|
UTSW |
7 |
25,175,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCTGACTGGAGGACAGAAGGAC -3'
(R):5'- AGGCATTTGCTAAGGGCCTCAC -3'
Sequencing Primer
(F):5'- GAAGGACATACTTGAATCTGTTCTC -3'
(R):5'- TCATGCTGAAAACTGTCCAGG -3'
|
Posted On |
2014-01-29 |