Incidental Mutation 'R4471:Ceacam1'
| ID |
329428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam1
|
| Ensembl Gene |
ENSMUSG00000074272 |
| Gene Name |
carcinoembryonic antigen-related cell adhesion molecule 1 |
| Synonyms |
Cea1, C-CAM, Cc1, Hv2, CD66a, Cea-7, Cea7, Mhv-1, Hv-2, MHVR1, mmCGM1, mCEA1, Bgp1, mmCGM2, Bgp, Cea-1 |
| MMRRC Submission |
041728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R4471 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25461707-25477603 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25474600 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 210
(N210I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096266
(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 |
possibly damaging
Transcript: ENSMUST00000098666
AA Change: N210I
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000096263
Gene: ENSMUSG00000074272
AA Change: N210I
| 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
|
| 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 |
possibly damaging
Transcript: ENSMUST00000098669
AA Change: N210I
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096266
Gene: ENSMUSG00000074272
AA Change: N210I
| 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 |
possibly damaging
Transcript: ENSMUST00000206171
AA Change: N210I
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206300
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206483
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206583
AA Change: N210I
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206676
AA Change: N210I
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206981
|
| Meta Mutation Damage Score |
0.4369 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
99% (69/70) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
A |
G |
3: 127,679,526 (GRCm38) |
S943P |
probably damaging |
Het |
| Ankdd1a |
T |
C |
9: 65,503,509 (GRCm38) |
D398G |
probably damaging |
Het |
| Ankrd13b |
T |
A |
11: 77,476,214 (GRCm38) |
K49M |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,343,724 (GRCm38) |
|
probably null |
Het |
| Cdc34b |
A |
G |
11: 94,742,238 (GRCm38) |
E88G |
probably benign |
Het |
| Cdh2 |
T |
C |
18: 16,774,476 (GRCm38) |
|
probably null |
Het |
| Celf3 |
A |
G |
3: 94,488,278 (GRCm38) |
|
probably null |
Het |
| Cfap20dc |
A |
G |
14: 8,536,571 (GRCm38) |
L212P |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,092,325 (GRCm38) |
M2085K |
probably benign |
Het |
| Cpne6 |
G |
A |
14: 55,516,632 (GRCm38) |
V469M |
probably damaging |
Het |
| Cyp2j12 |
A |
G |
4: 96,133,069 (GRCm38) |
V100A |
probably benign |
Het |
| Dnajb4 |
A |
T |
3: 152,185,162 (GRCm38) |
H333Q |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,940,946 (GRCm38) |
V316A |
possibly damaging |
Het |
| Eml1 |
T |
C |
12: 108,506,635 (GRCm38) |
|
probably benign |
Het |
| Ern1 |
C |
A |
11: 106,420,042 (GRCm38) |
V302L |
possibly damaging |
Het |
| Fam110b |
A |
T |
4: 5,799,092 (GRCm38) |
H170L |
probably benign |
Het |
| Fn3krp |
T |
G |
11: 121,426,673 (GRCm38) |
D146E |
probably benign |
Het |
| Git1 |
A |
G |
11: 77,499,824 (GRCm38) |
T129A |
probably benign |
Het |
| Glrp1 |
T |
A |
1: 88,503,474 (GRCm38) |
Q58L |
unknown |
Het |
| Gpatch2 |
A |
G |
1: 187,233,140 (GRCm38) |
E281G |
probably damaging |
Het |
| Hipk2 |
T |
A |
6: 38,736,922 (GRCm38) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 110,587,132 (GRCm38) |
N4214S |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 21,035,506 (GRCm38) |
C443* |
probably null |
Het |
| Impdh1 |
G |
A |
6: 29,204,632 (GRCm38) |
Q307* |
probably null |
Het |
| Ivns1abp |
C |
T |
1: 151,361,239 (GRCm38) |
T447M |
probably benign |
Het |
| Lman1 |
A |
T |
18: 65,991,726 (GRCm38) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,668,860 (GRCm38) |
E306G |
probably benign |
Het |
| Msc |
G |
C |
1: 14,755,678 (GRCm38) |
P24R |
probably damaging |
Het |
| Mtif2 |
T |
C |
11: 29,540,053 (GRCm38) |
|
probably benign |
Het |
| Mvp |
C |
T |
7: 127,001,958 (GRCm38) |
M1I |
probably null |
Het |
| Myh7 |
A |
T |
14: 54,991,854 (GRCm38) |
Y162* |
probably null |
Het |
| Nemf |
G |
A |
12: 69,314,442 (GRCm38) |
H956Y |
probably benign |
Het |
| Nktr |
T |
C |
9: 121,748,896 (GRCm38) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,204,741 (GRCm38) |
S276P |
probably damaging |
Het |
| Or8d1 |
T |
C |
9: 38,855,631 (GRCm38) |
S190P |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,535,579 (GRCm38) |
K621E |
probably damaging |
Het |
| Prss2 |
A |
G |
6: 41,522,846 (GRCm38) |
I24V |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,582,820 (GRCm38) |
|
probably benign |
Het |
| Rest |
T |
C |
5: 77,281,180 (GRCm38) |
V482A |
probably benign |
Het |
| Rexo1 |
A |
T |
10: 80,542,658 (GRCm38) |
S476T |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,860,446 (GRCm38) |
T354I |
probably benign |
Het |
| Slc16a3 |
T |
C |
11: 120,955,948 (GRCm38) |
|
probably benign |
Het |
| Slc5a4b |
G |
A |
10: 76,058,891 (GRCm38) |
Q594* |
probably null |
Het |
| Slk |
T |
G |
19: 47,615,423 (GRCm38) |
V202G |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,619,877 (GRCm38) |
V53D |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,238,753 (GRCm38) |
V2036E |
probably benign |
Het |
| Sox5 |
A |
G |
6: 143,844,765 (GRCm38) |
M523T |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 118,436,817 (GRCm38) |
|
probably null |
Het |
| Taf2 |
T |
C |
15: 55,058,880 (GRCm38) |
D337G |
possibly damaging |
Het |
| Tcstv2a |
G |
T |
13: 120,264,043 (GRCm38) |
R81L |
probably benign |
Het |
| Tecrl |
A |
G |
5: 83,313,287 (GRCm38) |
Y108H |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,551,018 (GRCm38) |
F409L |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,487,301 (GRCm38) |
L6S |
unknown |
Het |
| Ttc23 |
G |
A |
7: 67,670,156 (GRCm38) |
R187Q |
probably benign |
Het |
| Ttl |
T |
C |
2: 129,082,057 (GRCm38) |
V230A |
probably benign |
Het |
| Ube2u |
G |
A |
4: 100,481,646 (GRCm38) |
W36* |
probably null |
Het |
| Ube4a |
A |
T |
9: 44,946,532 (GRCm38) |
|
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,789,357 (GRCm38) |
R691Q |
probably benign |
Het |
| Unc45a |
A |
G |
7: 80,332,980 (GRCm38) |
I399T |
possibly damaging |
Het |
| Utp25 |
C |
T |
1: 193,130,137 (GRCm38) |
R5Q |
possibly damaging |
Het |
| Wdr59 |
A |
C |
8: 111,466,787 (GRCm38) |
|
probably null |
Het |
| Zfp24 |
A |
G |
18: 24,018,115 (GRCm38) |
|
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,042,107 (GRCm38) |
W342R |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,613,456 (GRCm38) |
C265* |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,913,331 (GRCm38) |
L2633Q |
probably damaging |
Het |
|
| Other mutations in Ceacam1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00701:Ceacam1
|
APN |
7 |
25,471,914 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL01766:Ceacam1
|
APN |
7 |
25,471,995 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02094:Ceacam1
|
APN |
7 |
25,474,543 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02869:Ceacam1
|
APN |
7 |
25,476,541 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL03325:Ceacam1
|
APN |
7 |
25,476,487 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
PIT4445001:Ceacam1
|
UTSW |
7 |
25,476,456 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4810001:Ceacam1
|
UTSW |
7 |
25,471,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0464:Ceacam1
|
UTSW |
7 |
25,472,017 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R1270:Ceacam1
|
UTSW |
7 |
25,466,314 (GRCm38) |
splice site |
probably null |
|
|
R1771:Ceacam1
|
UTSW |
7 |
25,472,044 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1819:Ceacam1
|
UTSW |
7 |
25,463,860 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1964:Ceacam1
|
UTSW |
7 |
25,474,708 (GRCm38) |
missense |
probably benign |
0.13 |
|
R2048:Ceacam1
|
UTSW |
7 |
25,476,688 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2760:Ceacam1
|
UTSW |
7 |
25,477,474 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2857:Ceacam1
|
UTSW |
7 |
25,474,017 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2859:Ceacam1
|
UTSW |
7 |
25,474,017 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3546:Ceacam1
|
UTSW |
7 |
25,471,914 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4606:Ceacam1
|
UTSW |
7 |
25,474,526 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4810:Ceacam1
|
UTSW |
7 |
25,474,520 (GRCm38) |
makesense |
probably null |
|
|
R5291:Ceacam1
|
UTSW |
7 |
25,471,831 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5405:Ceacam1
|
UTSW |
7 |
25,463,865 (GRCm38) |
missense |
probably benign |
0.41 |
|
R5423:Ceacam1
|
UTSW |
7 |
25,474,526 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5851:Ceacam1
|
UTSW |
7 |
25,474,600 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R5967:Ceacam1
|
UTSW |
7 |
25,474,742 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6216:Ceacam1
|
UTSW |
7 |
25,471,996 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6235:Ceacam1
|
UTSW |
7 |
25,471,792 (GRCm38) |
splice site |
probably null |
|
|
R6323:Ceacam1
|
UTSW |
7 |
25,474,651 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6545:Ceacam1
|
UTSW |
7 |
25,473,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7371:Ceacam1
|
UTSW |
7 |
25,474,720 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7760:Ceacam1
|
UTSW |
7 |
25,472,025 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7790:Ceacam1
|
UTSW |
7 |
25,473,950 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7869:Ceacam1
|
UTSW |
7 |
25,476,529 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7934:Ceacam1
|
UTSW |
7 |
25,463,795 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R8189:Ceacam1
|
UTSW |
7 |
25,473,918 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8907:Ceacam1
|
UTSW |
7 |
25,472,019 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8967:Ceacam1
|
UTSW |
7 |
25,463,872 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R9055:Ceacam1
|
UTSW |
7 |
25,471,874 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9149:Ceacam1
|
UTSW |
7 |
25,473,935 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9529:Ceacam1
|
UTSW |
7 |
25,471,806 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
X0028:Ceacam1
|
UTSW |
7 |
25,476,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCATGAACCCAGAAGCG -3'
(R):5'- CCACACAGGGCAATCTTCTC -3'
Sequencing Primer
(F):5'- CAGAAGCGAATGTGTGTCCC -3'
(R):5'- TCTGCACAGCCATATTATTAAAGCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation