Incidental Mutation 'R5305:Ceacam3'
ID |
404502 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ceacam3
|
Ensembl Gene |
ENSMUSG00000053228 |
Gene Name |
CEA cell adhesion molecule 3 |
Synonyms |
EG384557, cea12, Psg24 |
MMRRC Submission |
042888-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5305 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
16884207-16898178 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 16885501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 35
(S35T)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108491]
|
AlphaFold |
E9Q6J4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065540
AA Change: S35T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000069892 Gene: ENSMUSG00000053228 AA Change: S35T
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
IG
|
35 |
136 |
2.83e-3 |
SMART |
IG
|
155 |
256 |
6.31e-1 |
SMART |
IG
|
275 |
376 |
1.42e-3 |
SMART |
IG
|
395 |
494 |
2.08e-1 |
SMART |
IG
|
511 |
610 |
1.26e0 |
SMART |
IGc2
|
628 |
692 |
7.64e-9 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108491
AA Change: S35T
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000104131 Gene: ENSMUSG00000053228 AA Change: S35T
Domain | Start | End | E-Value | Type |
IG
|
40 |
141 |
2.83e-3 |
SMART |
IG
|
160 |
261 |
6.31e-1 |
SMART |
IG
|
280 |
379 |
8.01e-3 |
SMART |
IG
|
398 |
497 |
2.08e-1 |
SMART |
IG
|
514 |
613 |
1.26e0 |
SMART |
IGc2
|
631 |
695 |
7.64e-9 |
SMART |
|
Meta Mutation Damage Score |
0.2557 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
99% (67/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
G |
A |
15: 81,943,420 (GRCm39) |
V11M |
possibly damaging |
Het |
Acot8 |
A |
G |
2: 164,637,685 (GRCm39) |
V179A |
probably benign |
Het |
Actb |
A |
G |
5: 142,889,985 (GRCm39) |
I194T |
probably benign |
Het |
Ap1g2 |
A |
G |
14: 55,336,533 (GRCm39) |
V787A |
probably benign |
Het |
Areg |
G |
T |
5: 91,292,308 (GRCm39) |
A203S |
probably damaging |
Het |
Asb13 |
A |
T |
13: 3,693,479 (GRCm39) |
D79V |
probably damaging |
Het |
Atad2b |
C |
T |
12: 5,015,855 (GRCm39) |
T527I |
probably damaging |
Het |
Auts2 |
T |
G |
5: 131,472,632 (GRCm39) |
|
probably benign |
Het |
Crebzf |
T |
C |
7: 90,093,342 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
G |
T |
6: 18,381,097 (GRCm39) |
N1366K |
probably benign |
Het |
Cubn |
C |
A |
2: 13,393,750 (GRCm39) |
C1417F |
probably damaging |
Het |
Dot1l |
C |
T |
10: 80,626,627 (GRCm39) |
P162S |
probably benign |
Het |
Epc1 |
G |
A |
18: 6,490,690 (GRCm39) |
|
probably benign |
Het |
Eps8l1 |
A |
G |
7: 4,480,895 (GRCm39) |
S613G |
possibly damaging |
Het |
Erich6 |
T |
G |
3: 58,532,537 (GRCm39) |
I357L |
probably benign |
Het |
Foxj3 |
T |
A |
4: 119,477,155 (GRCm39) |
S288T |
possibly damaging |
Het |
Gls2 |
T |
G |
10: 128,040,578 (GRCm39) |
Y326* |
probably null |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm7535 |
T |
C |
17: 18,132,061 (GRCm39) |
|
probably benign |
Het |
Gxylt2 |
T |
G |
6: 100,764,179 (GRCm39) |
L288R |
probably damaging |
Het |
Kdm4a |
T |
C |
4: 118,017,698 (GRCm39) |
Y456C |
probably damaging |
Het |
Mgat4c |
T |
A |
10: 102,225,140 (GRCm39) |
F451L |
possibly damaging |
Het |
Mrpl20 |
G |
A |
4: 155,888,162 (GRCm39) |
R17H |
probably damaging |
Het |
Mtf2 |
A |
G |
5: 108,252,365 (GRCm39) |
T465A |
possibly damaging |
Het |
Mycbp2 |
A |
C |
14: 103,583,757 (GRCm39) |
L66R |
probably benign |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Nr2e1 |
A |
T |
10: 42,447,483 (GRCm39) |
Y176* |
probably null |
Het |
Obscn |
T |
C |
11: 58,903,541 (GRCm39) |
T7628A |
possibly damaging |
Het |
Or7a37 |
A |
T |
10: 78,806,390 (GRCm39) |
K302N |
possibly damaging |
Het |
Pitx2 |
T |
G |
3: 129,009,489 (GRCm39) |
V129G |
probably damaging |
Het |
Polr2e |
A |
G |
10: 79,873,897 (GRCm39) |
|
probably benign |
Het |
Ppard |
A |
G |
17: 28,517,832 (GRCm39) |
D300G |
probably damaging |
Het |
Ppp1r27 |
A |
G |
11: 120,441,743 (GRCm39) |
V46A |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,177,902 (GRCm39) |
V332E |
probably damaging |
Het |
Prss30 |
T |
G |
17: 24,191,750 (GRCm39) |
Y257S |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,900,863 (GRCm39) |
E1082G |
probably damaging |
Het |
Rab3c |
T |
A |
13: 110,317,611 (GRCm39) |
R89S |
probably damaging |
Het |
Rimbp2 |
A |
G |
5: 128,874,445 (GRCm39) |
V389A |
possibly damaging |
Het |
Rims1 |
T |
A |
1: 22,635,623 (GRCm39) |
R119S |
probably damaging |
Het |
Sema3b |
T |
C |
9: 107,480,536 (GRCm39) |
H137R |
probably null |
Het |
Sf3b4 |
G |
C |
3: 96,080,958 (GRCm39) |
A89P |
probably damaging |
Het |
Sgta |
T |
A |
10: 80,882,081 (GRCm39) |
Q298L |
probably damaging |
Het |
Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
Sry |
T |
A |
Y: 2,662,982 (GRCm39) |
D226V |
unknown |
Het |
Sv2a |
A |
G |
3: 96,092,774 (GRCm39) |
E158G |
possibly damaging |
Het |
Sytl2 |
A |
G |
7: 90,031,071 (GRCm39) |
|
probably benign |
Het |
Thbs3 |
T |
A |
3: 89,125,283 (GRCm39) |
|
probably benign |
Het |
Top3a |
A |
T |
11: 60,653,365 (GRCm39) |
N56K |
possibly damaging |
Het |
Tyk2 |
T |
C |
9: 21,020,677 (GRCm39) |
D918G |
probably damaging |
Het |
Uqcrh |
A |
G |
4: 115,924,481 (GRCm39) |
|
probably benign |
Het |
Vmn1r61 |
A |
G |
7: 5,613,814 (GRCm39) |
S167P |
probably damaging |
Het |
Wdr25 |
C |
A |
12: 108,992,366 (GRCm39) |
H74N |
probably damaging |
Het |
Zfp458 |
T |
C |
13: 67,404,382 (GRCm39) |
N686D |
probably benign |
Het |
Zfp574 |
T |
A |
7: 24,780,515 (GRCm39) |
H512Q |
|
Het |
Zfp976 |
A |
T |
7: 42,262,902 (GRCm39) |
Y312N |
probably benign |
Het |
Zscan4c |
G |
A |
7: 10,743,462 (GRCm39) |
V354I |
probably benign |
Het |
|
Other mutations in Ceacam3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01161:Ceacam3
|
APN |
7 |
16,885,782 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01510:Ceacam3
|
APN |
7 |
16,893,767 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01830:Ceacam3
|
APN |
7 |
16,888,925 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02155:Ceacam3
|
APN |
7 |
16,896,906 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02281:Ceacam3
|
APN |
7 |
16,895,656 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02301:Ceacam3
|
APN |
7 |
16,897,026 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02320:Ceacam3
|
APN |
7 |
16,895,865 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02514:Ceacam3
|
APN |
7 |
16,896,906 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02929:Ceacam3
|
APN |
7 |
16,892,115 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03143:Ceacam3
|
APN |
7 |
16,892,045 (GRCm39) |
nonsense |
probably null |
|
IGL03269:Ceacam3
|
APN |
7 |
16,895,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R0408:Ceacam3
|
UTSW |
7 |
16,885,808 (GRCm39) |
critical splice donor site |
probably benign |
|
R0591:Ceacam3
|
UTSW |
7 |
16,885,808 (GRCm39) |
critical splice donor site |
probably null |
|
R1274:Ceacam3
|
UTSW |
7 |
16,897,064 (GRCm39) |
missense |
probably damaging |
0.98 |
R1376:Ceacam3
|
UTSW |
7 |
16,897,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R1376:Ceacam3
|
UTSW |
7 |
16,897,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R1490:Ceacam3
|
UTSW |
7 |
16,897,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R1635:Ceacam3
|
UTSW |
7 |
16,893,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R1769:Ceacam3
|
UTSW |
7 |
16,892,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R2345:Ceacam3
|
UTSW |
7 |
16,888,925 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2367:Ceacam3
|
UTSW |
7 |
16,885,813 (GRCm39) |
splice site |
probably null |
|
R2403:Ceacam3
|
UTSW |
7 |
16,895,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R4030:Ceacam3
|
UTSW |
7 |
16,892,267 (GRCm39) |
missense |
probably benign |
0.43 |
R4240:Ceacam3
|
UTSW |
7 |
16,893,949 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5314:Ceacam3
|
UTSW |
7 |
16,892,296 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5433:Ceacam3
|
UTSW |
7 |
16,893,808 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5538:Ceacam3
|
UTSW |
7 |
16,892,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R5638:Ceacam3
|
UTSW |
7 |
16,893,860 (GRCm39) |
missense |
probably damaging |
0.98 |
R5787:Ceacam3
|
UTSW |
7 |
16,888,971 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5891:Ceacam3
|
UTSW |
7 |
16,885,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R5918:Ceacam3
|
UTSW |
7 |
16,893,670 (GRCm39) |
missense |
probably damaging |
0.99 |
R6074:Ceacam3
|
UTSW |
7 |
16,885,484 (GRCm39) |
missense |
probably benign |
0.05 |
R6386:Ceacam3
|
UTSW |
7 |
16,892,144 (GRCm39) |
missense |
probably benign |
0.22 |
R6439:Ceacam3
|
UTSW |
7 |
16,892,253 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6455:Ceacam3
|
UTSW |
7 |
16,895,863 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7150:Ceacam3
|
UTSW |
7 |
16,885,487 (GRCm39) |
missense |
|
|
R7196:Ceacam3
|
UTSW |
7 |
16,888,881 (GRCm39) |
missense |
|
|
R7201:Ceacam3
|
UTSW |
7 |
16,892,163 (GRCm39) |
nonsense |
probably null |
|
R7731:Ceacam3
|
UTSW |
7 |
16,892,275 (GRCm39) |
missense |
|
|
R7833:Ceacam3
|
UTSW |
7 |
16,893,778 (GRCm39) |
missense |
|
|
R8202:Ceacam3
|
UTSW |
7 |
16,896,953 (GRCm39) |
missense |
|
|
R8237:Ceacam3
|
UTSW |
7 |
16,897,082 (GRCm39) |
missense |
|
|
R8420:Ceacam3
|
UTSW |
7 |
16,895,608 (GRCm39) |
missense |
|
|
R8696:Ceacam3
|
UTSW |
7 |
16,893,937 (GRCm39) |
missense |
|
|
R9381:Ceacam3
|
UTSW |
7 |
16,893,715 (GRCm39) |
missense |
|
|
R9616:Ceacam3
|
UTSW |
7 |
16,892,078 (GRCm39) |
missense |
|
|
R9633:Ceacam3
|
UTSW |
7 |
16,895,688 (GRCm39) |
missense |
|
|
R9686:Ceacam3
|
UTSW |
7 |
16,892,123 (GRCm39) |
missense |
|
|
R9727:Ceacam3
|
UTSW |
7 |
16,892,262 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- GCACCTGAGTAGAGGATTCC -3'
(R):5'- CGGTACAATGTCTCTCTACCAC -3'
Sequencing Primer
(F):5'- GAAATGACACCCTCTGAGGCTCTG -3'
(R):5'- GTACAATGTCTCTCTACCACTGTGC -3'
|
Posted On |
2016-07-22 |