Incidental Mutation 'R5405:Ceacam1'
ID |
428669 |
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R5405 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
25161132-25177028 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25163290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 314
(N314K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096265
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098666]
[ENSMUST00000098668]
[ENSMUST00000098669]
[ENSMUST00000205308]
[ENSMUST00000206171]
[ENSMUST00000206583]
[ENSMUST00000206676]
[ENSMUST00000206687]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000098668
AA Change: N314K
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000096265 Gene: ENSMUSG00000074272 AA Change: N314K
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 benign
Transcript: ENSMUST00000098669
AA Change: N494K
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000096266 Gene: ENSMUSG00000074272 AA Change: N494K
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 benign
Transcript: ENSMUST00000206171
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206300
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206583
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206717
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206676
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206687
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add2 |
A |
T |
6: 86,078,179 (GRCm39) |
T298S |
probably benign |
Het |
Atad2b |
G |
A |
12: 4,990,098 (GRCm39) |
R141Q |
possibly damaging |
Het |
B3glct |
A |
G |
5: 149,632,818 (GRCm39) |
Q56R |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,894,894 (GRCm39) |
Y358C |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,966,085 (GRCm39) |
E1136G |
possibly damaging |
Het |
Ces1g |
A |
T |
8: 94,032,496 (GRCm39) |
I488N |
probably benign |
Het |
Chd6 |
C |
T |
2: 160,807,310 (GRCm39) |
R1968K |
probably benign |
Het |
Cyp27b1 |
C |
T |
10: 126,886,255 (GRCm39) |
T312I |
possibly damaging |
Het |
Cyp39a1 |
C |
T |
17: 43,987,831 (GRCm39) |
A99V |
probably damaging |
Het |
Dipk1a |
C |
T |
5: 108,057,827 (GRCm39) |
V199I |
probably benign |
Het |
Dnaaf9 |
A |
G |
2: 130,554,380 (GRCm39) |
S890P |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,612,018 (GRCm39) |
D620V |
probably benign |
Het |
Elapor1 |
A |
T |
3: 108,375,102 (GRCm39) |
C588* |
probably null |
Het |
Erc1 |
A |
T |
6: 119,801,905 (GRCm39) |
S37R |
probably damaging |
Het |
Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Gm14443 |
T |
C |
2: 175,013,644 (GRCm39) |
I43V |
possibly damaging |
Het |
Ins2 |
C |
T |
7: 142,233,134 (GRCm39) |
R46H |
probably damaging |
Het |
Krt77 |
T |
C |
15: 101,769,523 (GRCm39) |
I413V |
probably damaging |
Het |
Lpin3 |
A |
G |
2: 160,745,849 (GRCm39) |
D660G |
probably damaging |
Het |
Mpp3 |
T |
C |
11: 101,901,047 (GRCm39) |
Q318R |
probably benign |
Het |
Mpzl2 |
T |
C |
9: 44,958,503 (GRCm39) |
S80P |
probably damaging |
Het |
Mrpl2 |
T |
C |
17: 46,960,036 (GRCm39) |
|
probably null |
Het |
Mrpl48 |
T |
C |
7: 100,209,000 (GRCm39) |
Y108C |
probably damaging |
Het |
Ndufaf7 |
C |
A |
17: 79,246,044 (GRCm39) |
F92L |
probably damaging |
Het |
Or14c43 |
T |
C |
7: 86,115,383 (GRCm39) |
Y255H |
probably damaging |
Het |
Or6c8 |
T |
A |
10: 128,915,265 (GRCm39) |
D189V |
probably damaging |
Het |
Rec114 |
T |
C |
9: 58,567,624 (GRCm39) |
S121G |
probably benign |
Het |
Rnase10 |
A |
T |
14: 51,247,317 (GRCm39) |
I195F |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rreb1 |
A |
G |
13: 38,133,087 (GRCm39) |
E1754G |
probably damaging |
Het |
Sec31a |
G |
T |
5: 100,531,657 (GRCm39) |
C238* |
probably null |
Het |
Slc12a6 |
T |
C |
2: 112,169,724 (GRCm39) |
V337A |
probably damaging |
Het |
Slc25a37 |
A |
G |
14: 69,482,344 (GRCm39) |
V319A |
possibly damaging |
Het |
Slc26a10 |
T |
C |
10: 127,010,864 (GRCm39) |
Y456C |
probably benign |
Het |
Slc27a3 |
G |
A |
3: 90,294,382 (GRCm39) |
T463I |
probably benign |
Het |
Slc66a3 |
A |
G |
12: 17,043,315 (GRCm39) |
|
probably benign |
Het |
Stard9 |
T |
A |
2: 120,524,149 (GRCm39) |
D781E |
probably benign |
Het |
Tle1 |
T |
C |
4: 72,057,208 (GRCm39) |
|
probably benign |
Het |
Tmem229b-ps |
T |
C |
10: 53,351,325 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r71 |
A |
G |
7: 85,268,622 (GRCm39) |
D275G |
probably benign |
Het |
Wdr1 |
T |
C |
5: 38,692,543 (GRCm39) |
T121A |
probably benign |
Het |
Zdhhc19 |
C |
T |
16: 32,325,869 (GRCm39) |
R240C |
possibly 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 |
R1270:Ceacam1
|
UTSW |
7 |
25,165,739 (GRCm39) |
splice site |
probably null |
|
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 |
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'- TTCTGTAGGCTCCAGGATCC -3'
(R):5'- ACATCCTCGCACACATCTGG -3'
Sequencing Primer
(F):5'- TTCTTCTATAGACACTGAAGGAGTC -3'
(R):5'- GCACACATCTGGCTTTCATTCTG -3'
|
Posted On |
2016-09-06 |