Incidental Mutation 'R6930:Ceacam5'
| ID |
539944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam5
|
| Ensembl Gene |
ENSMUSG00000008789 |
| Gene Name |
CEA cell adhesion molecule 5 |
| Synonyms |
Psg30, 1600029H12Rik |
| MMRRC Submission |
045046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R6930 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
17447163-17495057 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 17484759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081907]
|
| AlphaFold |
Q3UKK2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081907
|
| SMART Domains |
Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
40 |
141 |
4.46e-1 |
SMART |
|
IG_like
|
160 |
261 |
2.96e1 |
SMART |
|
IG_like
|
277 |
378 |
5.86e0 |
SMART |
|
IG_like
|
397 |
496 |
4.07e1 |
SMART |
|
IG
|
514 |
615 |
2.64e0 |
SMART |
|
IG_like
|
634 |
735 |
2.81e1 |
SMART |
|
IG
|
753 |
853 |
1.72e-2 |
SMART |
|
IGc2
|
869 |
933 |
1.28e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.5%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
T |
11: 23,466,563 (GRCm39) |
D156E |
probably benign |
Het |
| Adam17 |
A |
T |
12: 21,403,949 (GRCm39) |
V99E |
probably damaging |
Het |
| Akr1e1 |
T |
C |
13: 4,652,714 (GRCm39) |
D41G |
probably damaging |
Het |
| Alcam |
T |
C |
16: 52,126,018 (GRCm39) |
I100V |
probably benign |
Het |
| Atr |
T |
C |
9: 95,748,688 (GRCm39) |
I411T |
probably benign |
Het |
| Bbs4 |
T |
C |
9: 59,230,764 (GRCm39) |
S453G |
probably benign |
Het |
| Brdt |
C |
T |
5: 107,507,081 (GRCm39) |
L494F |
probably benign |
Het |
| Ccser1 |
T |
C |
6: 62,357,009 (GRCm39) |
S816P |
probably benign |
Het |
| Cdk10 |
T |
C |
8: 123,957,347 (GRCm39) |
I157T |
probably damaging |
Het |
| Chst15 |
T |
C |
7: 131,870,759 (GRCm39) |
I259V |
possibly damaging |
Het |
| Cracdl |
A |
T |
1: 37,664,026 (GRCm39) |
I624N |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,142,409 (GRCm39) |
M1498K |
probably damaging |
Het |
| D630045J12Rik |
T |
C |
6: 38,135,151 (GRCm39) |
D1343G |
probably damaging |
Het |
| Denr |
T |
C |
5: 124,046,250 (GRCm39) |
Y27H |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,413,825 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
C |
18: 78,057,378 (GRCm39) |
F1819S |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,108,642 (GRCm39) |
Y223* |
probably null |
Het |
| Fry |
T |
C |
5: 150,351,695 (GRCm39) |
L1733P |
probably benign |
Het |
| Gabrb2 |
T |
C |
11: 42,488,440 (GRCm39) |
V302A |
probably damaging |
Het |
| Gimap9 |
G |
A |
6: 48,654,601 (GRCm39) |
D53N |
probably damaging |
Het |
| Gje1 |
G |
T |
10: 14,593,886 (GRCm39) |
L3I |
possibly damaging |
Het |
| Gm49383 |
G |
T |
12: 69,239,586 (GRCm39) |
A645E |
probably damaging |
Het |
| Gm8947 |
G |
A |
1: 151,068,347 (GRCm39) |
G60D |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,405,106 (GRCm39) |
|
probably null |
Het |
| Hace1 |
A |
G |
10: 45,494,598 (GRCm39) |
H136R |
probably damaging |
Het |
| Herc3 |
T |
G |
6: 58,893,444 (GRCm39) |
V902G |
probably damaging |
Het |
| Hspbp1 |
T |
C |
7: 4,687,606 (GRCm39) |
R2G |
probably benign |
Het |
| Iqch |
T |
A |
9: 63,387,856 (GRCm39) |
K811N |
possibly damaging |
Het |
| Kmt2a |
A |
G |
9: 44,753,962 (GRCm39) |
|
probably benign |
Het |
| Lonrf2 |
A |
T |
1: 38,843,417 (GRCm39) |
V372D |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,551,786 (GRCm39) |
Y729H |
probably damaging |
Het |
| Lrrc32 |
A |
G |
7: 98,148,471 (GRCm39) |
N417S |
possibly damaging |
Het |
| Malrd1 |
T |
A |
2: 15,802,478 (GRCm39) |
C1064S |
unknown |
Het |
| Mast3 |
G |
A |
8: 71,252,115 (GRCm39) |
R20* |
probably null |
Het |
| Mypn |
A |
C |
10: 62,952,718 (GRCm39) |
I174S |
probably damaging |
Het |
| Nrg1 |
G |
A |
8: 32,308,534 (GRCm39) |
T505M |
probably damaging |
Het |
| Or13p8 |
A |
G |
4: 118,584,338 (GRCm39) |
K298R |
probably damaging |
Het |
| Or6y1 |
A |
G |
1: 174,276,677 (GRCm39) |
I163V |
probably damaging |
Het |
| Or7a42 |
A |
G |
10: 78,791,615 (GRCm39) |
D192G |
possibly damaging |
Het |
| Or7e178 |
A |
G |
9: 20,225,395 (GRCm39) |
Y266H |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,850,958 (GRCm39) |
E1132G |
probably damaging |
Het |
| Pla2g4d |
A |
T |
2: 120,101,114 (GRCm39) |
M521K |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,913,770 (GRCm39) |
H1164R |
possibly damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,044,592 (GRCm39) |
V1218A |
probably benign |
Het |
| Pold1 |
A |
G |
7: 44,191,630 (GRCm39) |
S119P |
probably benign |
Het |
| Pole |
T |
A |
5: 110,441,156 (GRCm39) |
D203E |
probably benign |
Het |
| Rapgefl1 |
T |
A |
11: 98,737,947 (GRCm39) |
L387Q |
probably damaging |
Het |
| Rbm33 |
T |
C |
5: 28,557,504 (GRCm39) |
I199T |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Rufy1 |
C |
A |
11: 50,289,207 (GRCm39) |
R545L |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,690,699 (GRCm39) |
D1117V |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,815,141 (GRCm39) |
V621A |
possibly damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,234,940 (GRCm39) |
Y525F |
probably damaging |
Het |
| Spon2 |
A |
G |
5: 33,373,771 (GRCm39) |
V180A |
probably benign |
Het |
| Trav10n |
G |
A |
14: 53,359,947 (GRCm39) |
V75M |
probably benign |
Het |
| Ttc34 |
T |
C |
4: 154,923,543 (GRCm39) |
L84P |
probably damaging |
Het |
| Vmn1r23 |
C |
T |
6: 57,903,130 (GRCm39) |
R216K |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,949,364 (GRCm39) |
T595A |
probably benign |
Het |
| Vmn2r66 |
T |
A |
7: 84,661,216 (GRCm39) |
I5F |
possibly damaging |
Het |
| Zfp879 |
C |
T |
11: 50,723,839 (GRCm39) |
G406R |
probably damaging |
Het |
| Zic2 |
A |
T |
14: 122,713,869 (GRCm39) |
D261V |
probably damaging |
Het |
|
| Other mutations in Ceacam5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00419:Ceacam5
|
APN |
7 |
17,493,481 (GRCm39) |
nonsense |
probably null |
|
|
IGL00981:Ceacam5
|
APN |
7 |
17,479,458 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01314:Ceacam5
|
APN |
7 |
17,481,181 (GRCm39) |
nonsense |
probably null |
|
|
IGL01329:Ceacam5
|
APN |
7 |
17,479,534 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01389:Ceacam5
|
APN |
7 |
17,481,300 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01418:Ceacam5
|
APN |
7 |
17,479,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02418:Ceacam5
|
APN |
7 |
17,493,359 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02734:Ceacam5
|
APN |
7 |
17,484,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03220:Ceacam5
|
APN |
7 |
17,494,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03377:Ceacam5
|
APN |
7 |
17,449,056 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL03395:Ceacam5
|
APN |
7 |
17,479,304 (GRCm39) |
splice site |
probably benign |
|
|
IGL03054:Ceacam5
|
UTSW |
7 |
17,493,379 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0456:Ceacam5
|
UTSW |
7 |
17,494,776 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0624:Ceacam5
|
UTSW |
7 |
17,448,888 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0847:Ceacam5
|
UTSW |
7 |
17,491,762 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0879:Ceacam5
|
UTSW |
7 |
17,491,627 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0945:Ceacam5
|
UTSW |
7 |
17,481,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1382:Ceacam5
|
UTSW |
7 |
17,486,090 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1474:Ceacam5
|
UTSW |
7 |
17,481,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1526:Ceacam5
|
UTSW |
7 |
17,484,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Ceacam5
|
UTSW |
7 |
17,481,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1851:Ceacam5
|
UTSW |
7 |
17,448,835 (GRCm39) |
nonsense |
probably null |
|
|
R1907:Ceacam5
|
UTSW |
7 |
17,486,309 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1913:Ceacam5
|
UTSW |
7 |
17,493,502 (GRCm39) |
nonsense |
probably null |
|
|
R1990:Ceacam5
|
UTSW |
7 |
17,491,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1999:Ceacam5
|
UTSW |
7 |
17,481,172 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2336:Ceacam5
|
UTSW |
7 |
17,481,300 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2355:Ceacam5
|
UTSW |
7 |
17,479,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3106:Ceacam5
|
UTSW |
7 |
17,481,248 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3423:Ceacam5
|
UTSW |
7 |
17,491,562 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3432:Ceacam5
|
UTSW |
7 |
17,448,901 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3686:Ceacam5
|
UTSW |
7 |
17,494,748 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3713:Ceacam5
|
UTSW |
7 |
17,493,263 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3878:Ceacam5
|
UTSW |
7 |
17,484,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Ceacam5
|
UTSW |
7 |
17,486,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4335:Ceacam5
|
UTSW |
7 |
17,486,054 (GRCm39) |
missense |
probably benign |
|
|
R4725:Ceacam5
|
UTSW |
7 |
17,494,602 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4823:Ceacam5
|
UTSW |
7 |
17,491,669 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4833:Ceacam5
|
UTSW |
7 |
17,486,183 (GRCm39) |
missense |
probably benign |
|
|
R4986:Ceacam5
|
UTSW |
7 |
17,491,758 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5099:Ceacam5
|
UTSW |
7 |
17,479,513 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5365:Ceacam5
|
UTSW |
7 |
17,493,473 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5522:Ceacam5
|
UTSW |
7 |
17,449,005 (GRCm39) |
missense |
probably benign |
|
|
R5605:Ceacam5
|
UTSW |
7 |
17,481,161 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6199:Ceacam5
|
UTSW |
7 |
17,448,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6222:Ceacam5
|
UTSW |
7 |
17,479,472 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6320:Ceacam5
|
UTSW |
7 |
17,481,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6464:Ceacam5
|
UTSW |
7 |
17,481,391 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6521:Ceacam5
|
UTSW |
7 |
17,484,756 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6568:Ceacam5
|
UTSW |
7 |
17,479,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6573:Ceacam5
|
UTSW |
7 |
17,447,372 (GRCm39) |
start codon destroyed |
probably null |
0.70 |
|
R6814:Ceacam5
|
UTSW |
7 |
17,486,212 (GRCm39) |
nonsense |
probably null |
|
|
R6872:Ceacam5
|
UTSW |
7 |
17,486,212 (GRCm39) |
nonsense |
probably null |
|
|
R7071:Ceacam5
|
UTSW |
7 |
17,484,577 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7121:Ceacam5
|
UTSW |
7 |
17,479,462 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7174:Ceacam5
|
UTSW |
7 |
17,491,839 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7187:Ceacam5
|
UTSW |
7 |
17,493,410 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7355:Ceacam5
|
UTSW |
7 |
17,481,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7411:Ceacam5
|
UTSW |
7 |
17,484,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7462:Ceacam5
|
UTSW |
7 |
17,494,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7612:Ceacam5
|
UTSW |
7 |
17,493,341 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7803:Ceacam5
|
UTSW |
7 |
17,493,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7943:Ceacam5
|
UTSW |
7 |
17,479,491 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8342:Ceacam5
|
UTSW |
7 |
17,486,171 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8356:Ceacam5
|
UTSW |
7 |
17,479,624 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8426:Ceacam5
|
UTSW |
7 |
17,493,266 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8456:Ceacam5
|
UTSW |
7 |
17,479,624 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8534:Ceacam5
|
UTSW |
7 |
17,484,671 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8815:Ceacam5
|
UTSW |
7 |
17,493,285 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8871:Ceacam5
|
UTSW |
7 |
17,494,827 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9021:Ceacam5
|
UTSW |
7 |
17,448,877 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9157:Ceacam5
|
UTSW |
7 |
17,493,419 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9199:Ceacam5
|
UTSW |
7 |
17,479,350 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9372:Ceacam5
|
UTSW |
7 |
17,481,267 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9579:Ceacam5
|
UTSW |
7 |
17,479,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9605:Ceacam5
|
UTSW |
7 |
17,493,520 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9719:Ceacam5
|
UTSW |
7 |
17,491,835 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0020:Ceacam5
|
UTSW |
7 |
17,494,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTCAAGCTTGCCAGGG -3'
(R):5'- ACCATGACATCTTAAGCTGAGTTGC -3'
Sequencing Primer
(F):5'- AGGGCCTGCACACAGTG -3'
(R):5'- AGCTGAGTTGCTTTCCATCAG -3'
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| Posted On |
2018-11-06 |
Incidental Mutation