Incidental Mutation 'R6118:Ceacam20'
ID |
485208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ceacam20
|
Ensembl Gene |
ENSMUSG00000070777 |
Gene Name |
CEA cell adhesion molecule 20 |
Synonyms |
9130012D09Rik |
MMRRC Submission |
044267-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.208)
|
Stock # |
R6118 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
19699337-19725029 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 19705654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 215
(V215A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094753]
|
AlphaFold |
Q9D2Z1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094753
AA Change: V215A
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000092344 Gene: ENSMUSG00000070777 AA Change: V215A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
IG
|
57 |
139 |
1.4e-7 |
SMART |
IGc2
|
162 |
220 |
1.68e-5 |
SMART |
IG
|
244 |
326 |
1.85e-7 |
SMART |
IGc2
|
349 |
406 |
4.67e-4 |
SMART |
transmembrane domain
|
431 |
453 |
N/A |
INTRINSIC |
low complexity region
|
458 |
473 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207248
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
G |
10: 10,307,035 (GRCm39) |
K316N |
probably damaging |
Het |
Als2 |
A |
T |
1: 59,242,228 (GRCm39) |
V609E |
possibly damaging |
Het |
Ank3 |
A |
G |
10: 69,830,231 (GRCm39) |
I71V |
probably damaging |
Het |
Antxr2 |
T |
A |
5: 98,097,060 (GRCm39) |
D351V |
probably damaging |
Het |
Arel1 |
A |
G |
12: 84,988,713 (GRCm39) |
V12A |
possibly damaging |
Het |
Atad1 |
C |
T |
19: 32,664,697 (GRCm39) |
R239H |
possibly damaging |
Het |
B3galnt2 |
A |
G |
13: 14,166,094 (GRCm39) |
T330A |
probably damaging |
Het |
Bag6 |
T |
A |
17: 35,362,600 (GRCm39) |
I636N |
probably damaging |
Het |
C1qtnf6 |
T |
C |
15: 78,409,595 (GRCm39) |
D84G |
probably damaging |
Het |
Chtf18 |
C |
T |
17: 25,938,133 (GRCm39) |
D967N |
probably damaging |
Het |
Cntnap2 |
T |
A |
6: 47,170,011 (GRCm39) |
I1159K |
possibly damaging |
Het |
Col2a1 |
T |
C |
15: 97,896,448 (GRCm39) |
D67G |
unknown |
Het |
Csde1 |
T |
A |
3: 102,962,070 (GRCm39) |
V627E |
probably benign |
Het |
Epb41l1 |
G |
A |
2: 156,364,397 (GRCm39) |
E969K |
probably benign |
Het |
Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
Gabbr2 |
C |
T |
4: 46,736,459 (GRCm39) |
R474Q |
probably damaging |
Het |
H2bc18 |
T |
A |
3: 96,177,267 (GRCm39) |
V67E |
probably damaging |
Het |
Hap1 |
G |
T |
11: 100,246,620 (GRCm39) |
T95N |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,075,791 (GRCm39) |
K1886R |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,503,717 (GRCm39) |
D1007G |
probably damaging |
Het |
Mcm2 |
C |
T |
6: 88,864,818 (GRCm39) |
A553T |
probably damaging |
Het |
Memo1 |
T |
C |
17: 74,509,302 (GRCm39) |
Y239C |
possibly damaging |
Het |
Meox2 |
GCACCACCACCACCACCACCA |
GCACCACCACCACCACCA |
12: 37,159,030 (GRCm39) |
|
probably benign |
Het |
Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
Obsl1 |
A |
G |
1: 75,468,722 (GRCm39) |
|
probably benign |
Het |
Or4c107 |
T |
A |
2: 88,789,462 (GRCm39) |
Y217* |
probably null |
Het |
Or8k35 |
T |
A |
2: 86,424,758 (GRCm39) |
H138L |
probably benign |
Het |
Pold3 |
A |
G |
7: 99,745,614 (GRCm39) |
S180P |
possibly damaging |
Het |
Rbm12b2 |
T |
C |
4: 12,095,135 (GRCm39) |
S665P |
probably benign |
Het |
Rfc4 |
A |
T |
16: 22,939,693 (GRCm39) |
S86T |
probably damaging |
Het |
Rfx6 |
T |
A |
10: 51,587,962 (GRCm39) |
N277K |
possibly damaging |
Het |
Ryr2 |
C |
A |
13: 11,807,575 (GRCm39) |
V865F |
possibly damaging |
Het |
Skint4 |
T |
A |
4: 111,977,019 (GRCm39) |
|
probably null |
Het |
Slc38a10 |
T |
C |
11: 120,023,669 (GRCm39) |
Y249C |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,603,236 (GRCm39) |
T206A |
probably benign |
Het |
Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Tbc1d1 |
C |
T |
5: 64,441,380 (GRCm39) |
L655F |
probably damaging |
Het |
Tpp2 |
A |
T |
1: 43,979,306 (GRCm39) |
I68F |
probably damaging |
Het |
Trim30c |
G |
T |
7: 104,031,288 (GRCm39) |
T509K |
probably benign |
Het |
Zfp827 |
G |
T |
8: 79,803,067 (GRCm39) |
K546N |
possibly damaging |
Het |
|
Other mutations in Ceacam20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01572:Ceacam20
|
APN |
7 |
19,708,199 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01574:Ceacam20
|
APN |
7 |
19,708,247 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02407:Ceacam20
|
APN |
7 |
19,704,332 (GRCm39) |
missense |
probably benign |
0.26 |
IGL03035:Ceacam20
|
APN |
7 |
19,711,833 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03144:Ceacam20
|
APN |
7 |
19,705,444 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0129:Ceacam20
|
UTSW |
7 |
19,710,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R0573:Ceacam20
|
UTSW |
7 |
19,720,593 (GRCm39) |
missense |
probably damaging |
0.97 |
R0616:Ceacam20
|
UTSW |
7 |
19,704,321 (GRCm39) |
missense |
probably benign |
0.01 |
R1016:Ceacam20
|
UTSW |
7 |
19,710,227 (GRCm39) |
missense |
probably null |
|
R1218:Ceacam20
|
UTSW |
7 |
19,710,022 (GRCm39) |
missense |
probably benign |
0.00 |
R1257:Ceacam20
|
UTSW |
7 |
19,708,117 (GRCm39) |
missense |
probably benign |
0.03 |
R2334:Ceacam20
|
UTSW |
7 |
19,705,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R3051:Ceacam20
|
UTSW |
7 |
19,710,110 (GRCm39) |
missense |
probably benign |
0.33 |
R4184:Ceacam20
|
UTSW |
7 |
19,710,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R4667:Ceacam20
|
UTSW |
7 |
19,719,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R4668:Ceacam20
|
UTSW |
7 |
19,719,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R4669:Ceacam20
|
UTSW |
7 |
19,719,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R4953:Ceacam20
|
UTSW |
7 |
19,705,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R5000:Ceacam20
|
UTSW |
7 |
19,699,453 (GRCm39) |
missense |
probably damaging |
0.98 |
R5450:Ceacam20
|
UTSW |
7 |
19,712,133 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5561:Ceacam20
|
UTSW |
7 |
19,704,318 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6414:Ceacam20
|
UTSW |
7 |
19,710,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R6970:Ceacam20
|
UTSW |
7 |
19,723,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R7220:Ceacam20
|
UTSW |
7 |
19,701,678 (GRCm39) |
missense |
probably damaging |
0.99 |
R7426:Ceacam20
|
UTSW |
7 |
19,704,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R8159:Ceacam20
|
UTSW |
7 |
19,710,109 (GRCm39) |
missense |
probably damaging |
0.97 |
R8222:Ceacam20
|
UTSW |
7 |
19,705,618 (GRCm39) |
missense |
probably benign |
0.07 |
R8265:Ceacam20
|
UTSW |
7 |
19,708,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R8322:Ceacam20
|
UTSW |
7 |
19,705,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R8823:Ceacam20
|
UTSW |
7 |
19,705,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R9325:Ceacam20
|
UTSW |
7 |
19,720,607 (GRCm39) |
missense |
probably benign |
0.00 |
R9367:Ceacam20
|
UTSW |
7 |
19,705,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R9553:Ceacam20
|
UTSW |
7 |
19,723,926 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ceacam20
|
UTSW |
7 |
19,704,089 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGCTGGACTCAGGAGTAGC -3'
(R):5'- ATGTACCAATTACCACTGCCTG -3'
Sequencing Primer
(F):5'- CAGGAGTAGCTGCTGGGG -3'
(R):5'- ACCACTGCCTGTTTCTTAAAAAC -3'
|
Posted On |
2017-08-16 |