Incidental Mutation 'IGL03035:Ceacam20'
| ID |
408635 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ceacam20
|
| Ensembl Gene |
ENSMUSG00000070777 |
| Gene Name |
CEA cell adhesion molecule 20 |
| Synonyms |
9130012D09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
IGL03035
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
19699337-19725029 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 19711833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094753]
|
| AlphaFold |
Q9D2Z1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094753
|
| SMART Domains |
Protein: ENSMUSP00000092344
Gene: ENSMUSG00000070777
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,573,319 (GRCm39) |
L1004P |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,741,518 (GRCm39) |
I385T |
possibly damaging |
Het |
| Alpk3 |
T |
C |
7: 80,728,352 (GRCm39) |
V494A |
probably benign |
Het |
| Camta2 |
C |
A |
11: 70,562,335 (GRCm39) |
E1021* |
probably null |
Het |
| Ccdc6 |
T |
A |
10: 70,018,006 (GRCm39) |
S334T |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,679,601 (GRCm39) |
V93A |
probably damaging |
Het |
| Crip2 |
A |
C |
12: 113,107,745 (GRCm39) |
T103P |
probably benign |
Het |
| Cyp4f14 |
T |
A |
17: 33,133,608 (GRCm39) |
T83S |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,864,587 (GRCm39) |
V127D |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,563,277 (GRCm39) |
E609G |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,621,170 (GRCm39) |
I513F |
possibly damaging |
Het |
| Ell2 |
T |
A |
13: 75,911,767 (GRCm39) |
L351* |
probably null |
Het |
| Emcn |
G |
T |
3: 137,078,612 (GRCm39) |
|
probably null |
Het |
| Fdft1 |
A |
T |
14: 63,400,838 (GRCm39) |
C98* |
probably null |
Het |
| Fer1l4 |
A |
G |
2: 155,864,526 (GRCm39) |
S1663P |
possibly damaging |
Het |
| Flt4 |
C |
A |
11: 49,536,724 (GRCm39) |
Y1231* |
probably null |
Het |
| Gatb |
A |
G |
3: 85,509,254 (GRCm39) |
K139E |
probably damaging |
Het |
| Gtf2a1 |
C |
A |
12: 91,539,411 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
A |
C |
5: 31,323,358 (GRCm39) |
V574G |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,428,100 (GRCm39) |
|
probably benign |
Het |
| Homer2 |
T |
A |
7: 81,274,026 (GRCm39) |
T57S |
possibly damaging |
Het |
| Ice2 |
C |
A |
9: 69,332,970 (GRCm39) |
F825L |
probably benign |
Het |
| Lepr |
C |
A |
4: 101,622,177 (GRCm39) |
L370I |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,515,630 (GRCm39) |
Q1724* |
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,353,258 (GRCm39) |
D222G |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,314,168 (GRCm39) |
V159A |
probably benign |
Het |
| Prl3b1 |
A |
G |
13: 27,433,516 (GRCm39) |
|
probably benign |
Het |
| Ptbp3 |
A |
T |
4: 59,477,218 (GRCm39) |
M393K |
probably benign |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 79,001,731 (GRCm39) |
H282L |
probably damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,865 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
G |
A |
11: 119,336,452 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
A |
10: 51,952,080 (GRCm39) |
|
probably benign |
Het |
| Slx4ip |
A |
G |
2: 136,909,623 (GRCm39) |
D206G |
possibly damaging |
Het |
| Sprr1a |
T |
A |
3: 92,391,884 (GRCm39) |
D39V |
probably benign |
Het |
| Stab1 |
A |
G |
14: 30,869,726 (GRCm39) |
V1442A |
probably benign |
Het |
| Tbx3 |
C |
A |
5: 119,821,161 (GRCm39) |
|
probably benign |
Het |
| Ubl3 |
A |
G |
5: 148,442,947 (GRCm39) |
*118Q |
probably null |
Het |
| Vmn2r55 |
G |
A |
7: 12,404,743 (GRCm39) |
S220L |
probably benign |
Het |
| Vps36 |
A |
G |
8: 22,708,431 (GRCm39) |
K362E |
probably benign |
Het |
| Zfp268 |
C |
A |
4: 145,348,802 (GRCm39) |
Q80K |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation