Incidental Mutation 'R7934:Ceacam1'
ID |
648616 |
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 |
045980-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R7934 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
25161132-25177028 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 25163220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 338
(V338I)
|
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 |
possibly damaging
Transcript: ENSMUST00000098668
AA Change: V338I
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000096265 Gene: ENSMUSG00000074272 AA Change: V338I
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: V518I
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000096266 Gene: ENSMUSG00000074272 AA Change: V518I
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 |
probably benign
Transcript: ENSMUST00000206583
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206676
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206687
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110082I17Rik |
G |
A |
5: 139,349,770 (GRCm39) |
A93V |
probably benign |
Het |
Abca8b |
G |
A |
11: 109,865,865 (GRCm39) |
T296I |
possibly damaging |
Het |
Adamtsl1 |
A |
C |
4: 86,161,962 (GRCm39) |
Y365S |
probably damaging |
Het |
Ambp |
T |
A |
4: 63,067,677 (GRCm39) |
I178F |
probably damaging |
Het |
Ankle1 |
T |
C |
8: 71,858,899 (GRCm39) |
V44A |
possibly damaging |
Het |
Arhgef2 |
A |
G |
3: 88,537,221 (GRCm39) |
E37G |
probably damaging |
Het |
Atp2a2 |
A |
G |
5: 122,599,639 (GRCm39) |
I584T |
probably benign |
Het |
Ccdc171 |
T |
A |
4: 83,614,492 (GRCm39) |
L1031* |
probably null |
Het |
Cdh17 |
T |
A |
4: 11,799,754 (GRCm39) |
|
probably null |
Het |
Cdip1 |
T |
C |
16: 4,586,422 (GRCm39) |
T203A |
probably benign |
Het |
Cep78 |
G |
A |
19: 15,933,754 (GRCm39) |
T608I |
probably damaging |
Het |
Ces3a |
T |
A |
8: 105,775,345 (GRCm39) |
|
probably null |
Het |
Cfap210 |
G |
A |
2: 69,612,450 (GRCm39) |
Q97* |
probably null |
Het |
Chd7 |
A |
G |
4: 8,854,121 (GRCm39) |
T1898A |
probably benign |
Het |
Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
Creb1 |
G |
A |
1: 64,609,372 (GRCm39) |
A108T |
probably benign |
Het |
Ctnna3 |
A |
T |
10: 64,421,747 (GRCm39) |
I514F |
probably damaging |
Het |
Cyp2c55 |
T |
C |
19: 39,030,535 (GRCm39) |
F456L |
probably damaging |
Het |
Cyp2d40 |
A |
G |
15: 82,648,212 (GRCm39) |
S34P |
probably damaging |
Het |
Cyp2g1 |
A |
T |
7: 26,518,618 (GRCm39) |
T378S |
probably damaging |
Het |
Eif2b3 |
C |
A |
4: 116,923,675 (GRCm39) |
Q297K |
probably benign |
Het |
Fbll1 |
T |
C |
11: 35,689,048 (GRCm39) |
N72D |
unknown |
Het |
Fev |
C |
G |
1: 74,921,632 (GRCm39) |
R106P |
probably damaging |
Het |
Gal3st1 |
A |
G |
11: 3,948,405 (GRCm39) |
Y204C |
probably damaging |
Het |
Gm15130 |
A |
T |
2: 110,964,582 (GRCm39) |
L180Q |
|
Het |
Greb1l |
A |
T |
18: 10,474,371 (GRCm39) |
K229* |
probably null |
Het |
Haghl |
G |
T |
17: 26,002,519 (GRCm39) |
T214K |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,308,174 (GRCm39) |
H138R |
probably benign |
Het |
Ighv1-53 |
G |
T |
12: 115,122,236 (GRCm39) |
Y46* |
probably null |
Het |
Igsf21 |
T |
C |
4: 139,761,755 (GRCm39) |
T308A |
possibly damaging |
Het |
Kcnb1 |
A |
G |
2: 166,946,536 (GRCm39) |
S771P |
probably benign |
Het |
Kndc1 |
T |
A |
7: 139,501,402 (GRCm39) |
M897K |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,367,727 (GRCm39) |
M2345V |
possibly damaging |
Het |
Mettl2 |
T |
C |
11: 105,019,773 (GRCm39) |
S137P |
probably benign |
Het |
Mrpl15 |
A |
G |
1: 4,844,725 (GRCm39) |
S189P |
probably benign |
Het |
Ndrg2 |
T |
C |
14: 52,143,661 (GRCm39) |
Q351R |
probably benign |
Het |
Nox4 |
A |
G |
7: 86,945,032 (GRCm39) |
N65S |
probably damaging |
Het |
Or1n1 |
A |
G |
2: 36,750,228 (GRCm39) |
I44T |
possibly damaging |
Het |
Or1p1b |
C |
T |
11: 74,131,326 (GRCm39) |
S312F |
probably benign |
Het |
Osbpl11 |
T |
A |
16: 33,056,752 (GRCm39) |
W729R |
probably damaging |
Het |
Oxct2b |
C |
A |
4: 123,010,447 (GRCm39) |
C122* |
probably null |
Het |
Pdcl3 |
A |
T |
1: 39,026,782 (GRCm39) |
|
probably benign |
Het |
Plcg1 |
A |
G |
2: 160,616,498 (GRCm39) |
H1294R |
possibly damaging |
Het |
Pnp2 |
C |
A |
14: 51,201,903 (GRCm39) |
S296R |
probably benign |
Het |
Ppp1r12c |
G |
A |
7: 4,488,416 (GRCm39) |
Q337* |
probably null |
Het |
Prr23a4 |
A |
G |
9: 98,785,880 (GRCm39) |
R182G |
possibly damaging |
Het |
Ranbp2 |
G |
A |
10: 58,312,297 (GRCm39) |
V1006I |
probably damaging |
Het |
Rxrg |
A |
G |
1: 167,454,927 (GRCm39) |
D170G |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,548,162 (GRCm39) |
T691A |
probably benign |
Het |
Slc1a4 |
A |
G |
11: 20,258,518 (GRCm39) |
I307T |
probably damaging |
Het |
Slc4a8 |
G |
A |
15: 100,685,173 (GRCm39) |
V235I |
probably damaging |
Het |
Srgap3 |
T |
A |
6: 112,708,450 (GRCm39) |
I750F |
probably damaging |
Het |
Trim30a |
A |
T |
7: 104,061,448 (GRCm39) |
L282Q |
probably damaging |
Het |
Tshr |
A |
G |
12: 91,478,702 (GRCm39) |
K183R |
possibly damaging |
Het |
Usp38 |
A |
T |
8: 81,711,077 (GRCm39) |
L986Q |
probably damaging |
Het |
Vmn1r257 |
T |
A |
7: 22,391,439 (GRCm39) |
T102S |
possibly damaging |
Het |
Vps18 |
A |
G |
2: 119,124,122 (GRCm39) |
T350A |
probably benign |
Het |
Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
Zbtb37 |
A |
T |
1: 160,857,305 (GRCm39) |
S312R |
probably damaging |
Het |
Zeb1 |
A |
G |
18: 5,748,703 (GRCm39) |
N90S |
probably benign |
Het |
Zfp715 |
A |
T |
7: 42,949,308 (GRCm39) |
Y217* |
probably null |
Het |
Zfp9 |
T |
C |
6: 118,441,847 (GRCm39) |
T272A |
probably damaging |
Het |
Zfp943 |
T |
A |
17: 22,212,361 (GRCm39) |
H482Q |
probably damaging |
Het |
Zfp971 |
A |
T |
2: 177,675,173 (GRCm39) |
K257N |
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 |
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 |
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'- TTTTCTGTAGGCTCCAGGATCC -3'
(R):5'- CCATCTGGATGTCTGACTGTG -3'
Sequencing Primer
(F):5'- TTCTTCTATAGACACTGAAGGAGTC -3'
(R):5'- TGAGTGACAGGAGCCCTCTC -3'
|
Posted On |
2020-09-15 |