Incidental Mutation 'R5423:Ceacam1'
| ID |
426704 |
| 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 |
042989-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R5423 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25161132-25177028 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 25173951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 235
(I235L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145570
(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
AA Change: I235L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000096263
Gene: ENSMUSG00000074272
AA Change: I235L
| 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 |
probably benign
Transcript: ENSMUST00000098669
AA Change: I235L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000096266
Gene: ENSMUSG00000074272
AA Change: I235L
| 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
AA Change: I235L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206300
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206483
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206583
AA Change: I235L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206676
AA Change: I235L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206981
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206717
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206687
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (60/61) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,857,678 (GRCm39) |
I289T |
possibly damaging |
Het |
| Ak4 |
T |
G |
4: 101,317,760 (GRCm39) |
I110S |
probably damaging |
Het |
| Arhgap9 |
T |
G |
10: 127,165,418 (GRCm39) |
I609S |
probably damaging |
Het |
| Arid4a |
C |
A |
12: 71,116,634 (GRCm39) |
S242* |
probably null |
Het |
| Chil3 |
T |
C |
3: 106,055,978 (GRCm39) |
D365G |
probably damaging |
Het |
| Ckap2 |
A |
C |
8: 22,667,212 (GRCm39) |
S216R |
probably benign |
Het |
| Cyp2e1 |
G |
T |
7: 140,350,031 (GRCm39) |
V239L |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,397,431 (GRCm39) |
M3954K |
probably benign |
Het |
| Ercc6l2 |
A |
T |
13: 64,020,072 (GRCm39) |
|
probably benign |
Het |
| Etv5 |
T |
C |
16: 22,202,404 (GRCm39) |
D468G |
probably damaging |
Het |
| Fbxo44 |
T |
A |
4: 148,238,686 (GRCm39) |
I213F |
probably benign |
Het |
| Gm5084 |
A |
G |
13: 60,360,356 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr17 |
G |
A |
18: 32,080,694 (GRCm39) |
T123I |
probably damaging |
Het |
| Grin3a |
A |
G |
4: 49,770,376 (GRCm39) |
|
probably benign |
Het |
| H2-D1 |
T |
G |
17: 35,484,883 (GRCm39) |
L248R |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,577,723 (GRCm39) |
I2013V |
probably damaging |
Het |
| Hp1bp3 |
A |
T |
4: 137,953,208 (GRCm39) |
D84V |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,252,059 (GRCm39) |
F33S |
probably damaging |
Het |
| Inhbc |
C |
G |
10: 127,193,296 (GRCm39) |
C240S |
probably damaging |
Het |
| Iqgap1 |
T |
A |
7: 80,449,610 (GRCm39) |
E62V |
probably damaging |
Het |
| Kcna4 |
G |
A |
2: 107,126,151 (GRCm39) |
W295* |
probably null |
Het |
| Kdm4a |
C |
T |
4: 117,996,105 (GRCm39) |
A975T |
probably damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,931 (GRCm39) |
D412G |
possibly damaging |
Het |
| Midn |
A |
C |
10: 79,991,027 (GRCm39) |
I346L |
probably benign |
Het |
| Ndufa10 |
C |
T |
1: 92,390,042 (GRCm39) |
D259N |
probably benign |
Het |
| Nefh |
C |
A |
11: 4,890,985 (GRCm39) |
A545S |
possibly damaging |
Het |
| Prpf8 |
A |
G |
11: 75,399,784 (GRCm39) |
Y2281C |
probably damaging |
Het |
| Psip1 |
G |
A |
4: 83,378,367 (GRCm39) |
|
probably benign |
Het |
| Ptpro |
G |
T |
6: 137,419,705 (GRCm39) |
A184S |
probably damaging |
Het |
| Rab37 |
T |
A |
11: 115,047,853 (GRCm39) |
I65K |
possibly damaging |
Het |
| Rasgrp4 |
T |
C |
7: 28,844,561 (GRCm39) |
L247P |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,644,620 (GRCm39) |
V295A |
probably damaging |
Het |
| Serpina3g |
A |
G |
12: 104,204,253 (GRCm39) |
|
probably benign |
Het |
| Shox2 |
A |
G |
3: 66,881,087 (GRCm39) |
|
probably benign |
Het |
| Skint6 |
T |
G |
4: 112,707,937 (GRCm39) |
D977A |
possibly damaging |
Het |
| Slc25a23 |
C |
T |
17: 57,360,597 (GRCm39) |
V248M |
probably damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,690,188 (GRCm39) |
K188N |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,745,294 (GRCm39) |
D3008E |
possibly damaging |
Het |
| St18 |
A |
G |
1: 6,872,840 (GRCm39) |
S192G |
possibly damaging |
Het |
| Supt20 |
T |
A |
3: 54,616,746 (GRCm39) |
V306E |
probably damaging |
Het |
| T |
T |
C |
17: 8,660,597 (GRCm39) |
Y403H |
probably damaging |
Het |
| Tars3 |
C |
A |
7: 65,333,567 (GRCm39) |
N588K |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,640,907 (GRCm39) |
V1026A |
probably benign |
Het |
| Trpv4 |
T |
C |
5: 114,774,506 (GRCm39) |
T193A |
probably benign |
Het |
| Ubqln4 |
A |
G |
3: 88,470,506 (GRCm39) |
N326S |
probably damaging |
Het |
| Uggt2 |
G |
A |
14: 119,256,898 (GRCm39) |
T1112I |
probably damaging |
Het |
| Vasn |
C |
T |
16: 4,466,284 (GRCm39) |
P77L |
probably benign |
Het |
| Vps9d1 |
A |
C |
8: 123,974,704 (GRCm39) |
|
probably null |
Het |
| Washc4 |
C |
A |
10: 83,415,418 (GRCm39) |
Q803K |
possibly damaging |
Het |
| Zcchc2 |
C |
T |
1: 105,958,430 (GRCm39) |
T967I |
probably damaging |
Het |
| Zfp874a |
G |
A |
13: 67,590,473 (GRCm39) |
L404F |
possibly damaging |
Het |
| Zscan30 |
T |
C |
18: 24,104,773 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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'- ATTCTAGCTCAGGACTGCGC -3'
(R):5'- GACTCCGTATCATTAACCTGTGACTC -3'
Sequencing Primer
(F):5'- ACTGCGCCTGGCTTCATG -3'
(R):5'- AACCTGTGACTCTTACACTGAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation