Incidental Mutation 'R8907:Ceacam1'
| ID |
678445 |
| 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 |
068763-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R8907 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
25161132-25177028 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25171444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 340
(D340V)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000098666
AA Change: D340V
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000096263
Gene: ENSMUSG00000074272
AA Change: D340V
| 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 |
possibly damaging
Transcript: ENSMUST00000098668
AA Change: D160V
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000096265
Gene: ENSMUSG00000074272
AA Change: D160V
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000096266
Gene: ENSMUSG00000074272
AA Change: D340V
| 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: D160V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206171
AA Change: D340V
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206583
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206676
AA Change: D340V
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206687
AA Change: D160V
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5930422O12Rik |
A |
G |
8: 33,919,398 (GRCm39) |
I73V |
probably damaging |
Het |
| Agap3 |
T |
C |
5: 24,679,629 (GRCm39) |
I109T |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,986,452 (GRCm39) |
V2579M |
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,260,444 (GRCm39) |
S220P |
probably benign |
Het |
| Akap13 |
C |
G |
7: 75,260,456 (GRCm39) |
P224A |
probably damaging |
Het |
| Alpk1 |
G |
A |
3: 127,474,642 (GRCm39) |
Q454* |
probably null |
Het |
| Asrgl1 |
C |
T |
19: 9,090,506 (GRCm39) |
G280D |
probably damaging |
Het |
| Atp6v0d1 |
TTCTTACCTC |
T |
8: 106,251,782 (GRCm39) |
|
probably benign |
Het |
| Atxn2l |
T |
A |
7: 126,099,425 (GRCm39) |
D204V |
probably damaging |
Het |
| B430306N03Rik |
T |
C |
17: 48,628,100 (GRCm39) |
Y177H |
probably damaging |
Het |
| Bcl2l14 |
G |
A |
6: 134,400,585 (GRCm39) |
C2Y |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,002,295 (GRCm39) |
Y1413* |
probably null |
Het |
| Bphl |
A |
T |
13: 34,230,930 (GRCm39) |
M125L |
possibly damaging |
Het |
| Cdh10 |
A |
T |
15: 19,013,521 (GRCm39) |
N707I |
probably damaging |
Het |
| Cklf |
G |
A |
8: 104,977,671 (GRCm39) |
V8I |
probably benign |
Het |
| Cln5 |
A |
G |
14: 103,310,711 (GRCm39) |
N126S |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,456,106 (GRCm39) |
M327K |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,644,528 (GRCm39) |
F1253L |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,685,395 (GRCm39) |
S1169N |
probably benign |
Het |
| Cspg4 |
A |
T |
9: 56,790,967 (GRCm39) |
D72V |
probably damaging |
Het |
| Ctnnd2 |
C |
T |
15: 30,905,873 (GRCm39) |
P840L |
probably damaging |
Het |
| Eea1 |
T |
C |
10: 95,826,274 (GRCm39) |
Y105H |
probably damaging |
Het |
| Epha4 |
A |
C |
1: 77,483,422 (GRCm39) |
S196A |
probably damaging |
Het |
| Evx1 |
C |
T |
6: 52,293,746 (GRCm39) |
R305C |
probably damaging |
Het |
| Fcamr |
G |
T |
1: 130,740,328 (GRCm39) |
G249V |
probably damaging |
Het |
| Fdxacb1 |
C |
T |
9: 50,681,451 (GRCm39) |
T124I |
probably damaging |
Het |
| Fmn1 |
T |
G |
2: 113,355,914 (GRCm39) |
L883R |
unknown |
Het |
| Frmd4b |
T |
C |
6: 97,273,046 (GRCm39) |
N782S |
probably damaging |
Het |
| Frmpd2 |
T |
G |
14: 33,248,380 (GRCm39) |
C621W |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,816,984 (GRCm39) |
V4239D |
probably benign |
Het |
| Gcnt4 |
A |
G |
13: 97,083,844 (GRCm39) |
Y380C |
probably damaging |
Het |
| Gm7298 |
T |
C |
6: 121,741,817 (GRCm39) |
V413A |
probably benign |
Het |
| Gstp3 |
C |
T |
19: 4,108,145 (GRCm39) |
V93M |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,874,920 (GRCm39) |
M1858K |
possibly damaging |
Het |
| Ighv1-7 |
T |
A |
12: 114,502,353 (GRCm39) |
K38M |
probably damaging |
Het |
| Klri1 |
T |
C |
6: 129,680,283 (GRCm39) |
K124R |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,514,609 (GRCm39) |
F3078Y |
probably damaging |
Het |
| Map4k4 |
C |
T |
1: 40,058,770 (GRCm39) |
P988L |
probably damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,953,077 (GRCm39) |
E453K |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,417,875 (GRCm39) |
V3607E |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,417,434 (GRCm39) |
I3461N |
|
Het |
| Ngef |
G |
A |
1: 87,405,376 (GRCm39) |
S678F |
probably damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,178,157 (GRCm39) |
S418T |
probably benign |
Het |
| Nprl2 |
A |
G |
9: 107,421,995 (GRCm39) |
D257G |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,542 (GRCm39) |
V76D |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,383,294 (GRCm39) |
D796G |
probably benign |
Het |
| Pcf11 |
T |
C |
7: 92,302,451 (GRCm39) |
T1220A |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,187,785 (GRCm39) |
I3508V |
possibly damaging |
Het |
| Ppargc1a |
A |
T |
5: 51,647,570 (GRCm39) |
S258T |
probably damaging |
Het |
| Prom1 |
A |
G |
5: 44,159,135 (GRCm39) |
Y830H |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 67,051,732 (GRCm39) |
H1001L |
probably damaging |
Het |
| Rab8b |
A |
G |
9: 66,826,807 (GRCm39) |
F37L |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,070,278 (GRCm39) |
I1148F |
probably damaging |
Het |
| Sec62 |
A |
G |
3: 30,864,621 (GRCm39) |
K162E |
unknown |
Het |
| Serpinb13 |
A |
T |
1: 106,928,519 (GRCm39) |
I380F |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,634,186 (GRCm39) |
D2175G |
probably benign |
Het |
| St3gal6 |
T |
C |
16: 58,314,095 (GRCm39) |
I13V |
probably benign |
Het |
| Tfpi2 |
A |
T |
6: 3,967,996 (GRCm39) |
L48H |
probably damaging |
Het |
| Tmem121b |
T |
A |
6: 120,469,707 (GRCm39) |
I337F |
probably damaging |
Het |
| Tpbgl |
T |
C |
7: 99,275,182 (GRCm39) |
D225G |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,959,664 (GRCm39) |
V674A |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,963,563 (GRCm39) |
L553P |
probably damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,755,798 (GRCm39) |
V189A |
probably damaging |
Het |
| Vmn1r19 |
G |
T |
6: 57,381,991 (GRCm39) |
M181I |
probably benign |
Het |
| Vmn2r10 |
T |
C |
5: 109,149,791 (GRCm39) |
T418A |
probably benign |
Het |
| Zfp617 |
A |
G |
8: 72,686,927 (GRCm39) |
Y419C |
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 |
|
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 |
|
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'- TTCACACTGATACTCGCCG -3'
(R):5'- CTGAGACAAGGGTCACTCTGAG -3'
Sequencing Primer
(F):5'- ACTGATACTCGCCGGCATC -3'
(R):5'- GTAGGAGGAGTTTACATCTCTCTCC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation