Incidental Mutation 'R4567:Ceacam23'
| ID |
343345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam23
|
| Ensembl Gene |
ENSMUSG00000078793 |
| Gene Name |
CEA cell adhesion moleculen23 |
| Synonyms |
Gm5155 |
| MMRRC Submission |
041791-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4567 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
17605692-17652935 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17642891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 434
(S434P)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
A0A3Q4EGJ1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000072381
|
| SMART Domains |
Protein: ENSMUSP00000072218
Gene: ENSMUSG00000078793
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
2.27e-2 |
SMART |
|
IG_like
|
160 |
261 |
2.73e1 |
SMART |
|
IG_like
|
277 |
378 |
6.69e0 |
SMART |
|
IG_like
|
397 |
498 |
4.07e1 |
SMART |
|
IG_like
|
514 |
615 |
6.52e0 |
SMART |
|
IG_like
|
634 |
735 |
1.05e1 |
SMART |
|
IG
|
753 |
853 |
1.28e-1 |
SMART |
|
IGc2
|
869 |
933 |
3.82e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165490
AA Change: S434P
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130117
Gene: ENSMUSG00000078793
AA Change: S434P
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
2.94e-1 |
SMART |
|
IG_like
|
160 |
261 |
2.73e1 |
SMART |
|
IG_like
|
277 |
378 |
6.69e0 |
SMART |
|
IG_like
|
397 |
498 |
4.07e1 |
SMART |
|
IG_like
|
514 |
615 |
6.52e0 |
SMART |
|
IG_like
|
634 |
735 |
1.05e1 |
SMART |
|
IG
|
753 |
853 |
1.28e-1 |
SMART |
|
IGc2
|
869 |
933 |
3.82e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (38/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,315,499 (GRCm39) |
L182Q |
probably damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Alg12 |
T |
C |
15: 88,690,556 (GRCm39) |
|
probably benign |
Het |
| Asmt |
A |
G |
X: 169,110,261 (GRCm39) |
|
probably null |
Het |
| Atp10b |
T |
C |
11: 43,088,384 (GRCm39) |
I330T |
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,498,942 (GRCm39) |
M998V |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,414,944 (GRCm39) |
S401P |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,023,716 (GRCm39) |
T56S |
probably benign |
Het |
| Gm1527 |
A |
T |
3: 28,968,556 (GRCm39) |
N203Y |
probably damaging |
Het |
| Hsf2bp |
C |
T |
17: 32,165,708 (GRCm39) |
V296M |
probably benign |
Het |
| Htr1d |
T |
A |
4: 136,170,836 (GRCm39) |
V355E |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,970,132 (GRCm39) |
V203A |
probably damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,364,721 (GRCm39) |
V856A |
probably damaging |
Het |
| Nherf4 |
C |
A |
9: 44,160,323 (GRCm39) |
V294L |
possibly damaging |
Het |
| Or2ag1b |
G |
A |
7: 106,288,420 (GRCm39) |
Q173* |
probably null |
Het |
| Or2y6 |
T |
C |
11: 52,104,291 (GRCm39) |
H175R |
probably damaging |
Het |
| Or5t18 |
A |
G |
2: 86,637,146 (GRCm39) |
S66P |
probably damaging |
Het |
| Phf11 |
A |
T |
14: 59,488,627 (GRCm39) |
Y57N |
probably damaging |
Het |
| Ppfia2 |
G |
A |
10: 106,701,267 (GRCm39) |
|
probably null |
Het |
| Prss23 |
T |
A |
7: 89,160,074 (GRCm39) |
|
probably benign |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Rcn2 |
A |
T |
9: 55,960,266 (GRCm39) |
I178F |
probably benign |
Het |
| Rtn1 |
C |
T |
12: 72,259,261 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,909,876 (GRCm39) |
V59A |
probably damaging |
Het |
| Slc25a42 |
A |
T |
8: 70,641,504 (GRCm39) |
M159K |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,619,737 (GRCm39) |
L21P |
probably damaging |
Het |
| Smap2 |
A |
C |
4: 120,842,508 (GRCm39) |
W41G |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,261,557 (GRCm39) |
I220V |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,722,198 (GRCm39) |
D994G |
probably benign |
Het |
| Syt17 |
A |
G |
7: 118,033,495 (GRCm39) |
V171A |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,956,249 (GRCm39) |
F1332S |
probably damaging |
Het |
| Trim3 |
C |
T |
7: 105,262,623 (GRCm39) |
V512I |
possibly damaging |
Het |
| Uhmk1 |
G |
A |
1: 170,032,686 (GRCm39) |
Q282* |
probably null |
Het |
| Ushbp1 |
G |
A |
8: 71,838,361 (GRCm39) |
R648W |
probably damaging |
Het |
|
| Other mutations in Ceacam23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00480:Ceacam23
|
APN |
7 |
17,644,622 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01085:Ceacam23
|
APN |
7 |
17,649,616 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01135:Ceacam23
|
APN |
7 |
17,636,396 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL01291:Ceacam23
|
APN |
7 |
17,639,041 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02252:Ceacam23
|
APN |
7 |
17,644,457 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03243:Ceacam23
|
APN |
7 |
17,652,574 (GRCm39) |
exon |
noncoding transcript |
|
|
R0113:Ceacam23
|
UTSW |
7 |
17,642,873 (GRCm39) |
exon |
noncoding transcript |
|
|
R0833:Ceacam23
|
UTSW |
7 |
17,638,906 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0836:Ceacam23
|
UTSW |
7 |
17,638,906 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1462:Ceacam23
|
UTSW |
7 |
17,649,516 (GRCm39) |
exon |
noncoding transcript |
|
|
R1473:Ceacam23
|
UTSW |
7 |
17,639,016 (GRCm39) |
exon |
noncoding transcript |
|
|
R1817:Ceacam23
|
UTSW |
7 |
17,607,255 (GRCm39) |
exon |
noncoding transcript |
|
|
R1905:Ceacam23
|
UTSW |
7 |
17,607,477 (GRCm39) |
exon |
noncoding transcript |
|
|
R2362:Ceacam23
|
UTSW |
7 |
17,636,398 (GRCm39) |
exon |
noncoding transcript |
|
|
R3721:Ceacam23
|
UTSW |
7 |
17,636,663 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4305:Ceacam23
|
UTSW |
7 |
17,639,118 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4587:Ceacam23
|
UTSW |
7 |
17,620,149 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4691:Ceacam23
|
UTSW |
7 |
17,642,891 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4989:Ceacam23
|
UTSW |
7 |
17,639,143 (GRCm39) |
splice site |
probably null |
|
|
R5023:Ceacam23
|
UTSW |
7 |
17,636,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Ceacam23
|
UTSW |
7 |
17,644,607 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5274:Ceacam23
|
UTSW |
7 |
17,649,642 (GRCm39) |
splice site |
probably null |
|
|
R5279:Ceacam23
|
UTSW |
7 |
17,607,214 (GRCm39) |
splice site |
noncoding transcript |
|
|
R5304:Ceacam23
|
UTSW |
7 |
17,636,617 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5312:Ceacam23
|
UTSW |
7 |
17,643,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5899:Ceacam23
|
UTSW |
7 |
17,651,369 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGCTGTACAATGAGCACTCCTC -3'
(R):5'- TCCAGCTGGAGTTGCACATG -3'
Sequencing Primer
(F):5'- TCAGGACACAGGGCCTCATC -3'
(R):5'- ACATGTGCTATTTCATCTTTCAGATC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation