Incidental Mutation 'R3051:Ceacam20'
| ID |
264945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam20
|
| Ensembl Gene |
ENSMUSG00000070777 |
| Gene Name |
CEA cell adhesion molecule 20 |
| Synonyms |
9130012D09Rik |
| MMRRC Submission |
040560-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R3051 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
19699337-19725029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19710110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 378
(V378E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094753]
|
| AlphaFold |
Q9D2Z1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094753
AA Change: V378E
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000092344
Gene: ENSMUSG00000070777
AA Change: V378E
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
G |
A |
8: 46,974,374 (GRCm39) |
V330I |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,933,816 (GRCm39) |
L436P |
probably damaging |
Het |
| Axin1 |
A |
G |
17: 26,409,099 (GRCm39) |
T700A |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,268,188 (GRCm39) |
M100L |
probably benign |
Het |
| Cwf19l2 |
G |
A |
9: 3,410,006 (GRCm39) |
R45H |
probably benign |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Ddr2 |
T |
C |
1: 169,816,024 (GRCm39) |
K561R |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Ltf |
A |
G |
9: 110,853,590 (GRCm39) |
D280G |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,203,343 (GRCm39) |
E481G |
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,060 (GRCm39) |
T99A |
probably benign |
Het |
| Pald1 |
G |
A |
10: 61,182,542 (GRCm39) |
Q412* |
probably null |
Het |
| Ppp4r3c2 |
G |
A |
X: 88,797,709 (GRCm39) |
V514I |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,018,867 (GRCm39) |
Y649H |
probably damaging |
Het |
| R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
| Rbfox3 |
G |
T |
11: 118,393,714 (GRCm39) |
A37D |
probably damaging |
Het |
| Rpa2 |
A |
G |
4: 132,502,437 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Slc6a7 |
G |
A |
18: 61,142,589 (GRCm39) |
T41M |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Ten1 |
T |
C |
11: 116,096,556 (GRCm39) |
F70S |
possibly damaging |
Het |
| Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
| Tktl1 |
A |
G |
X: 73,221,010 (GRCm39) |
T39A |
probably benign |
Het |
| Tmem51 |
A |
T |
4: 141,759,335 (GRCm39) |
Y138N |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Trpm1 |
G |
A |
7: 63,918,849 (GRCm39) |
E730K |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
| Zfp345 |
T |
C |
2: 150,316,772 (GRCm39) |
N12D |
probably benign |
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 |
|
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 |
|
R6118:Ceacam20
|
UTSW |
7 |
19,705,654 (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'- TGTGACTTTGCAGATGGCCC -3'
(R):5'- AGTCGACGTCACACTTAATGC -3'
Sequencing Primer
(F):5'- AGATGGCCCCGACCAAGTG -3'
(R):5'- GACGTCACACTTAATGCCATGATAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation