Incidental Mutation 'R6216:Ceacam1'
| ID |
503711 |
| 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 |
044349-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R6216 (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 25171421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 348
(S348T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098666]
[ENSMUST00000098668]
[ENSMUST00000098669]
[ENSMUST00000205308]
[ENSMUST00000206171]
[ENSMUST00000206676]
[ENSMUST00000206687]
[ENSMUST00000206583]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098666
AA Change: S348T
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000096263
Gene: ENSMUSG00000074272
AA Change: S348T
| 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: S168T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000096265
Gene: ENSMUSG00000074272
AA Change: S168T
| 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: S348T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000096266
Gene: ENSMUSG00000074272
AA Change: S348T
| 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
AA Change: S168T
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206171
AA Change: S348T
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206300
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206483
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206676
AA Change: S348T
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206687
AA Change: S168T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206981
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206717
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206583
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
97% (67/69) |
| 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 |
|---|
| 1700017B05Rik |
T |
C |
9: 57,164,910 (GRCm39) |
D488G |
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,672,590 (GRCm39) |
|
probably null |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Alkbh3 |
G |
A |
2: 93,838,881 (GRCm39) |
|
probably benign |
Het |
| Ankrd22 |
A |
T |
19: 34,101,569 (GRCm39) |
|
probably null |
Het |
| Anks1b |
A |
G |
10: 90,096,618 (GRCm39) |
D425G |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,254,790 (GRCm39) |
D212G |
probably benign |
Het |
| Bbx |
A |
T |
16: 50,071,751 (GRCm39) |
S225T |
probably benign |
Het |
| Bivm |
T |
A |
1: 44,166,028 (GRCm39) |
|
probably null |
Het |
| Bpifb3 |
A |
G |
2: 153,767,773 (GRCm39) |
Y282C |
probably benign |
Het |
| Cacna1h |
A |
T |
17: 25,597,793 (GRCm39) |
I1767N |
probably damaging |
Het |
| Ccdc28a |
G |
T |
10: 18,100,719 (GRCm39) |
S36* |
probably null |
Het |
| Ccser2 |
A |
G |
14: 36,662,465 (GRCm39) |
S240P |
probably damaging |
Het |
| Ddx49 |
C |
T |
8: 70,749,934 (GRCm39) |
G161D |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,193,864 (GRCm39) |
E353G |
possibly damaging |
Het |
| Dnaaf6rt |
A |
T |
1: 31,262,432 (GRCm39) |
D138V |
probably damaging |
Het |
| Etv2 |
A |
G |
7: 30,334,036 (GRCm39) |
|
probably null |
Het |
| Extl1 |
T |
C |
4: 134,090,441 (GRCm39) |
T345A |
probably benign |
Het |
| Fam163a |
A |
T |
1: 155,954,741 (GRCm39) |
S137T |
probably benign |
Het |
| Fermt2 |
A |
T |
14: 45,697,338 (GRCm39) |
M671K |
possibly damaging |
Het |
| Fsd1l |
T |
C |
4: 53,694,742 (GRCm39) |
C388R |
probably damaging |
Het |
| Galnt18 |
A |
C |
7: 111,112,757 (GRCm39) |
V470G |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,749,397 (GRCm39) |
I602F |
probably damaging |
Het |
| Gucy1b1 |
G |
T |
3: 81,954,020 (GRCm39) |
|
probably null |
Het |
| Hace1 |
T |
C |
10: 45,494,643 (GRCm39) |
V151A |
probably benign |
Het |
| Hadhb |
T |
A |
5: 30,379,929 (GRCm39) |
D258E |
probably benign |
Het |
| Heatr1 |
C |
T |
13: 12,447,545 (GRCm39) |
T1746I |
probably benign |
Het |
| Hrnr |
T |
C |
3: 93,239,469 (GRCm39) |
S3236P |
unknown |
Het |
| Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
| Kiz |
C |
A |
2: 146,731,417 (GRCm39) |
D302E |
probably damaging |
Het |
| Kng2 |
A |
T |
16: 22,806,343 (GRCm39) |
W619R |
probably damaging |
Het |
| Mfap3l |
C |
A |
8: 61,124,841 (GRCm39) |
T361K |
probably damaging |
Het |
| Mlec |
T |
C |
5: 115,288,376 (GRCm39) |
H160R |
probably benign |
Het |
| Myo16 |
T |
C |
8: 10,365,494 (GRCm39) |
L89P |
probably benign |
Het |
| Neb |
T |
C |
2: 52,114,564 (GRCm39) |
I4232V |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,302,433 (GRCm39) |
I334V |
possibly damaging |
Het |
| Nipbl |
A |
C |
15: 8,347,867 (GRCm39) |
F1942V |
probably damaging |
Het |
| Or2ag17 |
A |
T |
7: 106,389,665 (GRCm39) |
I181N |
probably benign |
Het |
| Or4a70 |
C |
A |
2: 89,324,066 (GRCm39) |
V197F |
probably damaging |
Het |
| Or4c11c |
T |
C |
2: 88,661,655 (GRCm39) |
S65P |
probably damaging |
Het |
| Or51a10 |
A |
G |
7: 103,698,902 (GRCm39) |
Y220H |
probably damaging |
Het |
| Pabpc2 |
G |
T |
18: 39,907,772 (GRCm39) |
A346S |
probably damaging |
Het |
| Paxip1 |
T |
C |
5: 27,971,171 (GRCm39) |
T393A |
unknown |
Het |
| Pcdhgb5 |
A |
T |
18: 37,864,981 (GRCm39) |
T259S |
probably benign |
Het |
| Pfkp |
A |
T |
13: 6,669,224 (GRCm39) |
L253H |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,215,869 (GRCm39) |
D1428G |
probably benign |
Het |
| Pkd1l2 |
T |
G |
8: 117,808,209 (GRCm39) |
D105A |
probably damaging |
Het |
| Pou2f1 |
G |
T |
1: 165,707,889 (GRCm39) |
|
probably benign |
Het |
| Ppfia4 |
T |
C |
1: 134,256,921 (GRCm39) |
E100G |
probably damaging |
Het |
| Ppp1r15a |
G |
T |
7: 45,173,446 (GRCm39) |
T454K |
probably damaging |
Het |
| Prpsap1 |
A |
T |
11: 116,362,239 (GRCm39) |
I381N |
probably damaging |
Het |
| Ptx3 |
T |
A |
3: 66,132,265 (GRCm39) |
V262E |
probably damaging |
Het |
| Rab21 |
A |
T |
10: 115,130,831 (GRCm39) |
H158Q |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,426,357 (GRCm39) |
S830P |
probably damaging |
Het |
| Rdh1 |
G |
A |
10: 127,600,622 (GRCm39) |
S215N |
probably benign |
Het |
| Rhot1 |
G |
A |
11: 80,141,885 (GRCm39) |
R463H |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Selenom |
A |
T |
11: 3,464,915 (GRCm39) |
|
probably benign |
Het |
| Selenop |
T |
C |
15: 3,308,947 (GRCm39) |
C300R |
probably damaging |
Het |
| Skint1 |
T |
A |
4: 111,878,679 (GRCm39) |
S204T |
probably benign |
Het |
| Ss18l1 |
A |
G |
2: 179,703,706 (GRCm39) |
N313S |
unknown |
Het |
| Sycp2l |
A |
G |
13: 41,295,200 (GRCm39) |
D289G |
probably damaging |
Het |
| Terf1 |
C |
T |
1: 15,889,221 (GRCm39) |
H188Y |
probably benign |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,181,065 (GRCm39) |
T357A |
probably damaging |
Het |
| Trip11 |
A |
C |
12: 101,856,859 (GRCm39) |
M401R |
probably benign |
Het |
| Ubald2 |
A |
C |
11: 116,325,211 (GRCm39) |
D26A |
probably benign |
Het |
| Ube2w |
C |
G |
1: 16,689,508 (GRCm39) |
|
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,811,267 (GRCm39) |
S450R |
probably benign |
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 |
|
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'- CACTCTGTAATAAGAAGGGTGGC -3'
(R):5'- AGAGGACCGTTTCATTCTGTGG -3'
Sequencing Primer
(F):5'- GGCAAGGTCACTCACATATTATGTCC -3'
(R):5'- CATTCTGTGGGCCCTGTGAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation