Incidental Mutation 'R1257:Ceacam20'
| ID |
151492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam20
|
| Ensembl Gene |
ENSMUSG00000070777 |
| Gene Name |
CEA cell adhesion molecule 20 |
| Synonyms |
9130012D09Rik |
| MMRRC Submission |
039324-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R1257 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
19699337-19725029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19708117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 241
(I241V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094753]
|
| AlphaFold |
Q9D2Z1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094753
AA Change: I241V
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000092344
Gene: ENSMUSG00000070777
AA Change: I241V
| 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: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
T |
2: 127,886,286 (GRCm39) |
T174S |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,710,665 (GRCm39) |
R408* |
probably null |
Het |
| Ceacam15 |
A |
G |
7: 16,405,949 (GRCm39) |
S201P |
possibly damaging |
Het |
| Cfap46 |
A |
T |
7: 139,234,545 (GRCm39) |
L237* |
probably null |
Het |
| Col4a3 |
T |
A |
1: 82,694,086 (GRCm39) |
C133S |
probably damaging |
Het |
| Dnajc9 |
G |
A |
14: 20,438,765 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,343,360 (GRCm39) |
V1568D |
probably damaging |
Het |
| Gli3 |
C |
T |
13: 15,900,581 (GRCm39) |
Q1323* |
probably null |
Het |
| Grhpr |
A |
G |
4: 44,989,045 (GRCm39) |
N287S |
probably damaging |
Het |
| H2bl1 |
A |
T |
13: 99,121,023 (GRCm39) |
M1K |
probably null |
Het |
| Hectd4 |
G |
A |
5: 121,456,687 (GRCm39) |
W684* |
probably null |
Het |
| Kifc3 |
A |
G |
8: 95,832,400 (GRCm39) |
V474A |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,425,467 (GRCm39) |
V1462A |
unknown |
Het |
| Mdn1 |
A |
T |
4: 32,667,089 (GRCm39) |
|
probably null |
Het |
| Med7 |
C |
G |
11: 46,331,460 (GRCm39) |
I18M |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,658,375 (GRCm39) |
Y707H |
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,903,738 (GRCm39) |
N339K |
probably damaging |
Het |
| Or6c209 |
A |
T |
10: 129,483,413 (GRCm39) |
K139* |
probably null |
Het |
| Rbm34 |
C |
T |
8: 127,697,643 (GRCm39) |
G23S |
possibly damaging |
Het |
| Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Snap25 |
A |
T |
2: 136,600,268 (GRCm39) |
E37V |
probably damaging |
Het |
| Taf1a |
A |
G |
1: 183,179,175 (GRCm39) |
T118A |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,625,049 (GRCm39) |
T1634A |
probably benign |
Het |
| Thrb |
T |
A |
14: 18,008,642 (GRCm38) |
I122K |
probably damaging |
Het |
| Xkr4 |
T |
G |
1: 3,287,036 (GRCm39) |
I385L |
probably benign |
Het |
| Zeb1 |
G |
T |
18: 5,772,699 (GRCm39) |
R996L |
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 |
|
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 |
|
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'- AAGCCACCCGTGTTCTACACATAAG -3'
(R):5'- CTCACAGTTGATGGTGAGCTTCAGG -3'
Sequencing Primer
(F):5'- tttcgttggtttgatacatgatttc -3'
(R):5'- GGCCCAATATCATCTCTCTGAAGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation