Incidental Mutation 'R9055:Ceacam1'
ID |
688626 |
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 |
068881-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R9055 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
25161132-25177028 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25171299 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 388
(D388E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096263
(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 damaging
Transcript: ENSMUST00000098666
AA Change: D388E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000096263 Gene: ENSMUSG00000074272 AA Change: D388E
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 damaging
Transcript: ENSMUST00000098668
AA Change: D208E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000096265 Gene: ENSMUSG00000074272 AA Change: D208E
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 damaging
Transcript: ENSMUST00000098669
AA Change: D388E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096266 Gene: ENSMUSG00000074272 AA Change: D388E
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 damaging
Transcript: ENSMUST00000205308
AA Change: D208E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206171
AA Change: D388E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206583
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206676
AA Change: D388E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206687
AA Change: D208E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
97% (68/70) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
T |
A |
19: 57,030,398 (GRCm39) |
T753S |
probably benign |
Het |
Acy3 |
A |
G |
19: 4,038,178 (GRCm39) |
E157G |
probably benign |
Het |
Adamts20 |
A |
G |
15: 94,181,867 (GRCm39) |
Y1609H |
probably damaging |
Het |
Ahnak2 |
C |
T |
12: 112,741,019 (GRCm39) |
A1018T |
possibly damaging |
Het |
Ahsg |
T |
A |
16: 22,711,069 (GRCm39) |
W69R |
possibly damaging |
Het |
Alox12 |
T |
G |
11: 70,143,903 (GRCm39) |
D159A |
probably damaging |
Het |
Alox12b |
C |
G |
11: 69,054,884 (GRCm39) |
P296A |
possibly damaging |
Het |
Ankrd17 |
T |
C |
5: 90,380,168 (GRCm39) |
I2507V |
probably benign |
Het |
Apeh |
T |
C |
9: 107,963,045 (GRCm39) |
M670V |
possibly damaging |
Het |
Aqp12 |
C |
T |
1: 92,934,627 (GRCm39) |
A168V |
probably benign |
Het |
Clp1 |
A |
T |
2: 84,554,266 (GRCm39) |
I301N |
probably damaging |
Het |
Cntn3 |
A |
G |
6: 102,244,398 (GRCm39) |
F384L |
probably benign |
Het |
Dnpep |
A |
T |
1: 75,291,805 (GRCm39) |
M238K |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 6,996,641 (GRCm39) |
|
probably benign |
Het |
Edc3 |
T |
A |
9: 57,623,360 (GRCm39) |
N98K |
probably benign |
Het |
Egr3 |
T |
A |
14: 70,316,349 (GRCm39) |
N15K |
probably damaging |
Het |
Fbxo25 |
T |
A |
8: 13,965,023 (GRCm39) |
C25S |
possibly damaging |
Het |
Fgd4 |
T |
A |
16: 16,240,494 (GRCm39) |
D745V |
possibly damaging |
Het |
Flnb |
T |
A |
14: 7,908,553 (GRCm38) |
D1310E |
probably benign |
Het |
Ggnbp2 |
A |
G |
11: 84,732,448 (GRCm39) |
F215S |
probably damaging |
Het |
Gm1979 |
C |
T |
5: 26,207,032 (GRCm39) |
R107Q |
probably benign |
Het |
Gm4847 |
T |
A |
1: 166,467,677 (GRCm39) |
H173L |
probably damaging |
Het |
Gmeb1 |
A |
T |
4: 131,964,425 (GRCm39) |
L146H |
probably damaging |
Het |
Gpr88 |
A |
G |
3: 116,046,300 (GRCm39) |
S4P |
unknown |
Het |
Gucy1a1 |
A |
G |
3: 82,016,433 (GRCm39) |
L185P |
possibly damaging |
Het |
Hsd3b6 |
G |
T |
3: 98,713,984 (GRCm39) |
T105N |
probably damaging |
Het |
Iqca1 |
T |
C |
1: 89,998,335 (GRCm39) |
Y546C |
probably benign |
Het |
Irf1 |
T |
A |
11: 53,667,196 (GRCm39) |
I305N |
probably benign |
Het |
Itgb3 |
G |
A |
11: 104,556,451 (GRCm39) |
W764* |
probably null |
Het |
Klra8 |
G |
T |
6: 130,096,017 (GRCm39) |
R192S |
probably benign |
Het |
Krt79 |
T |
A |
15: 101,839,922 (GRCm39) |
I358F |
probably damaging |
Het |
Mettl4 |
T |
C |
17: 95,047,843 (GRCm39) |
D266G |
possibly damaging |
Het |
Mfsd8 |
G |
A |
3: 40,786,493 (GRCm39) |
A219V |
probably benign |
Het |
Mgam |
G |
A |
6: 40,691,663 (GRCm39) |
|
probably benign |
Het |
Nek9 |
A |
T |
12: 85,348,616 (GRCm39) |
C973S |
probably damaging |
Het |
Or2k2 |
G |
T |
4: 58,785,374 (GRCm39) |
A116E |
possibly damaging |
Het |
Or4f15 |
A |
T |
2: 111,814,049 (GRCm39) |
Y123* |
probably null |
Het |
Or8c13 |
T |
C |
9: 38,091,780 (GRCm39) |
Y113C |
probably damaging |
Het |
Ostc |
T |
A |
3: 130,503,020 (GRCm39) |
E2V |
probably damaging |
Het |
Ostc |
C |
A |
3: 130,503,021 (GRCm39) |
E2* |
probably null |
Het |
Pcdhb8 |
T |
A |
18: 37,490,585 (GRCm39) |
C754* |
probably null |
Het |
Polr1a |
A |
G |
6: 71,892,053 (GRCm39) |
T111A |
possibly damaging |
Het |
Prep |
C |
T |
10: 44,991,291 (GRCm39) |
T319M |
probably benign |
Het |
Reg3b |
A |
C |
6: 78,349,886 (GRCm39) |
D142A |
possibly damaging |
Het |
Retsat |
A |
G |
6: 72,583,936 (GRCm39) |
D537G |
probably benign |
Het |
Rnf2 |
G |
A |
1: 151,352,030 (GRCm39) |
L109F |
probably damaging |
Het |
Rskr |
A |
G |
11: 78,184,373 (GRCm39) |
D240G |
probably damaging |
Het |
Runx3 |
G |
T |
4: 134,902,656 (GRCm39) |
R262L |
probably damaging |
Het |
Rwdd3 |
G |
T |
3: 120,952,871 (GRCm39) |
T112K |
probably benign |
Het |
Scfd2 |
T |
C |
5: 74,691,931 (GRCm39) |
H117R |
possibly damaging |
Het |
Scn10a |
C |
T |
9: 119,451,958 (GRCm39) |
V1321M |
probably damaging |
Het |
Sec31a |
T |
C |
5: 100,534,040 (GRCm39) |
E119G |
possibly damaging |
Het |
Skint6 |
C |
A |
4: 113,095,347 (GRCm39) |
G104V |
probably damaging |
Het |
Slc18a1 |
T |
A |
8: 69,520,823 (GRCm39) |
I199F |
possibly damaging |
Het |
St18 |
C |
T |
1: 6,873,206 (GRCm39) |
R314* |
probably null |
Het |
Sucla2 |
T |
G |
14: 73,819,068 (GRCm39) |
|
probably benign |
Het |
Sulf1 |
A |
T |
1: 12,878,187 (GRCm39) |
H225L |
probably damaging |
Het |
Tas2r140 |
A |
G |
6: 133,032,380 (GRCm39) |
V126A |
possibly damaging |
Het |
Tcp10b |
T |
C |
17: 13,281,828 (GRCm39) |
I66T |
probably damaging |
Het |
Tmem45a2 |
T |
C |
16: 56,861,115 (GRCm39) |
I237M |
probably benign |
Het |
Traf3ip1 |
C |
T |
1: 91,428,733 (GRCm39) |
R167* |
probably null |
Het |
Trav17 |
T |
G |
14: 54,044,320 (GRCm39) |
V30G |
probably damaging |
Het |
Vmn1r54 |
A |
G |
6: 90,246,100 (GRCm39) |
N5D |
probably benign |
Het |
Vmn2r81 |
A |
G |
10: 79,110,441 (GRCm39) |
H518R |
probably benign |
Het |
Washc3 |
A |
G |
10: 88,051,916 (GRCm39) |
T102A |
probably benign |
Het |
Xaf1 |
A |
G |
11: 72,194,266 (GRCm39) |
H49R |
probably damaging |
Het |
Zfp1001 |
G |
A |
2: 150,165,753 (GRCm39) |
|
probably benign |
Het |
Zfp276 |
T |
C |
8: 123,985,109 (GRCm39) |
F356L |
probably damaging |
Het |
Zfp398 |
G |
T |
6: 47,843,319 (GRCm39) |
R457L |
possibly damaging |
Het |
Zfp512 |
G |
T |
5: 31,637,533 (GRCm39) |
E541* |
probably null |
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 |
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 |
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'- GATTCGCATCCATCGCCATG -3'
(R):5'- CTGTTTGTCCACAGAGCCAG -3'
Sequencing Primer
(F):5'- CCATGGTGGCTGTATTTGTATC -3'
(R):5'- TTGTCCACAGAGCCAGTGACTC -3'
|
Posted On |
2021-11-19 |