Incidental Mutation 'R7462:Ceacam5'
ID |
578502 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ceacam5
|
Ensembl Gene |
ENSMUSG00000008789 |
Gene Name |
CEA cell adhesion molecule 5 |
Synonyms |
Psg30, 1600029H12Rik |
MMRRC Submission |
045536-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R7462 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
17447163-17495057 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 17494764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 924
(Y924F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081907]
|
AlphaFold |
Q3UKK2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081907
AA Change: Y924F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080582 Gene: ENSMUSG00000008789 AA Change: Y924F
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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (60/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank2 |
G |
C |
3: 126,736,683 (GRCm39) |
T3067S |
unknown |
Het |
Ankrd28 |
T |
C |
14: 31,500,886 (GRCm39) |
N35S |
probably benign |
Het |
Bicra |
A |
T |
7: 15,713,060 (GRCm39) |
S996T |
possibly damaging |
Het |
Btbd7 |
T |
C |
12: 102,803,981 (GRCm39) |
E353G |
possibly damaging |
Het |
Cdhr2 |
A |
T |
13: 54,874,552 (GRCm39) |
I875F |
probably damaging |
Het |
Clca4b |
A |
G |
3: 144,628,621 (GRCm39) |
I362T |
probably benign |
Het |
Dchs2 |
A |
G |
3: 83,253,462 (GRCm39) |
|
probably null |
Het |
Dlc1 |
T |
A |
8: 37,405,118 (GRCm39) |
T224S |
unknown |
Het |
Dmxl2 |
T |
C |
9: 54,273,916 (GRCm39) |
|
probably null |
Het |
Dnajc1 |
A |
G |
2: 18,313,710 (GRCm39) |
F137S |
probably damaging |
Het |
E130311K13Rik |
T |
C |
3: 63,836,722 (GRCm39) |
T24A |
probably benign |
Het |
Eya1 |
T |
C |
1: 14,301,638 (GRCm39) |
E317G |
probably null |
Het |
Fpr-rs6 |
A |
G |
17: 20,402,485 (GRCm39) |
L292P |
probably damaging |
Het |
Gca |
G |
T |
2: 62,502,753 (GRCm39) |
D54Y |
possibly damaging |
Het |
Gm45861 |
G |
A |
8: 28,024,517 (GRCm39) |
|
probably null |
Het |
Gm57858 |
T |
A |
3: 36,080,055 (GRCm39) |
|
probably null |
Het |
Gtf2a1l |
A |
G |
17: 89,001,566 (GRCm39) |
T141A |
possibly damaging |
Het |
Hgsnat |
T |
C |
8: 26,447,241 (GRCm39) |
N351S |
probably benign |
Het |
Htr1f |
A |
T |
16: 64,746,383 (GRCm39) |
V303E |
probably damaging |
Het |
Iars2 |
C |
A |
1: 185,055,063 (GRCm39) |
W302L |
probably damaging |
Het |
Igkv4-74 |
T |
A |
6: 69,162,100 (GRCm39) |
Q23L |
possibly damaging |
Het |
Il18 |
A |
T |
9: 50,476,673 (GRCm39) |
|
probably benign |
Het |
Ints4 |
A |
G |
7: 97,155,335 (GRCm39) |
D329G |
probably benign |
Het |
Itsn1 |
T |
C |
16: 91,650,073 (GRCm39) |
F249S |
possibly damaging |
Het |
Ktn1 |
A |
G |
14: 47,932,089 (GRCm39) |
E672G |
probably null |
Het |
Lhx6 |
A |
G |
2: 35,974,083 (GRCm39) |
I359T |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,003,041 (GRCm39) |
E2030G |
|
Het |
Macf1 |
T |
A |
4: 123,386,556 (GRCm39) |
K1114N |
probably damaging |
Het |
Mbd5 |
A |
G |
2: 49,147,892 (GRCm39) |
M701V |
possibly damaging |
Het |
Mcemp1 |
A |
T |
8: 3,717,065 (GRCm39) |
M69L |
probably benign |
Het |
Mfsd4b2 |
T |
A |
10: 39,797,877 (GRCm39) |
K159N |
probably benign |
Het |
Mroh2b |
T |
A |
15: 4,938,109 (GRCm39) |
D243E |
probably damaging |
Het |
Muc21 |
T |
C |
17: 35,931,568 (GRCm39) |
S873G |
unknown |
Het |
Mug1 |
A |
T |
6: 121,852,399 (GRCm39) |
Q829L |
probably benign |
Het |
Nav3 |
A |
T |
10: 109,659,439 (GRCm39) |
V726E |
probably damaging |
Het |
Nfib |
T |
C |
4: 82,271,826 (GRCm39) |
Q247R |
probably benign |
Het |
Npbwr1 |
T |
C |
1: 5,987,151 (GRCm39) |
N121S |
probably damaging |
Het |
Or1e19 |
T |
C |
11: 73,316,296 (GRCm39) |
D171G |
probably benign |
Het |
Or52b2 |
T |
A |
7: 104,986,707 (GRCm39) |
D72V |
probably damaging |
Het |
Or5h19 |
A |
T |
16: 58,856,379 (GRCm39) |
C240* |
probably null |
Het |
Pkd1l3 |
A |
G |
8: 110,355,409 (GRCm39) |
S726G |
probably benign |
Het |
Ppip5k1 |
A |
T |
2: 121,167,232 (GRCm39) |
V847D |
probably damaging |
Het |
Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
Ripor2 |
G |
A |
13: 24,880,290 (GRCm39) |
V385M |
unknown |
Het |
Rufy1 |
C |
T |
11: 50,298,655 (GRCm39) |
V379M |
possibly damaging |
Het |
S100a5 |
A |
G |
3: 90,517,207 (GRCm39) |
K26R |
probably damaging |
Het |
Sin3a |
T |
C |
9: 57,002,809 (GRCm39) |
S234P |
probably benign |
Het |
Sirt7 |
G |
A |
11: 120,511,618 (GRCm39) |
T225I |
probably benign |
Het |
Slc34a1 |
A |
T |
13: 24,006,401 (GRCm39) |
T476S |
probably damaging |
Het |
Slc38a6 |
T |
A |
12: 73,397,351 (GRCm39) |
M331K |
probably benign |
Het |
Spam1 |
T |
C |
6: 24,796,907 (GRCm39) |
I286T |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,002,793 (GRCm39) |
I214F |
possibly damaging |
Het |
Tmtc1 |
A |
G |
6: 148,226,643 (GRCm39) |
L427P |
probably damaging |
Het |
Tpbg |
G |
A |
9: 85,726,903 (GRCm39) |
A291T |
possibly damaging |
Het |
Zfp40 |
A |
G |
17: 23,397,362 (GRCm39) |
F45S |
possibly damaging |
Het |
Zfp451 |
C |
T |
1: 33,816,094 (GRCm39) |
V619M |
probably damaging |
Het |
Zim1 |
A |
G |
7: 6,680,811 (GRCm39) |
L284P |
probably damaging |
Het |
Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
probably benign |
Het |
Zmynd11 |
T |
A |
13: 9,748,720 (GRCm39) |
N154Y |
probably benign |
Het |
Zscan12 |
A |
T |
13: 21,553,457 (GRCm39) |
H427L |
possibly 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 |
|
R6930:Ceacam5
|
UTSW |
7 |
17,484,759 (GRCm39) |
splice site |
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 |
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'- TACAGACCCTGTTTCATGGC -3'
(R):5'- AAGGCAGTACTTGAGTGGTAACTG -3'
Sequencing Primer
(F):5'- CCTTTTGTGCGAGTGACTGAC -3'
(R):5'- CAGTACTTGAGTGGTAACTGACAAC -3'
|
Posted On |
2019-10-07 |