Incidental Mutation 'R4833:Ceacam5'
| ID |
372985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam5
|
| Ensembl Gene |
ENSMUSG00000008789 |
| Gene Name |
CEA cell adhesion molecule 5 |
| Synonyms |
Psg30, 1600029H12Rik |
| MMRRC Submission |
042449-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4833 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
17447163-17495057 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17486183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 560
(T560M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081907]
|
| AlphaFold |
Q3UKK2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081907
AA Change: T560M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
AA Change: T560M
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
A |
19: 3,766,872 (GRCm39) |
T153K |
possibly damaging |
Het |
| Abca5 |
A |
C |
11: 110,170,142 (GRCm39) |
Y1318D |
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,164,117 (GRCm39) |
I22T |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,708,963 (GRCm39) |
H1147L |
possibly damaging |
Het |
| Ankrd2 |
T |
C |
19: 42,032,296 (GRCm39) |
|
probably null |
Het |
| Bdkrb2 |
T |
C |
12: 105,557,917 (GRCm39) |
W53R |
probably benign |
Het |
| Blm |
T |
A |
7: 80,116,574 (GRCm39) |
I1111L |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,019,117 (GRCm39) |
I2007V |
probably damaging |
Het |
| Bmp3 |
T |
G |
5: 99,003,066 (GRCm39) |
L32R |
probably damaging |
Het |
| Cdh23 |
T |
G |
10: 60,220,817 (GRCm39) |
E1312A |
probably damaging |
Het |
| Cimap1a |
T |
C |
7: 140,428,191 (GRCm39) |
M1T |
probably null |
Het |
| Cmtm8 |
C |
A |
9: 114,625,233 (GRCm39) |
R66I |
probably benign |
Het |
| Cnbd1 |
A |
G |
4: 18,862,120 (GRCm39) |
Y357H |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,507,323 (GRCm39) |
V252E |
unknown |
Het |
| Col6a4 |
A |
T |
9: 105,949,178 (GRCm39) |
M819K |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,430,783 (GRCm39) |
S372P |
probably benign |
Het |
| Daam2 |
A |
T |
17: 49,797,173 (GRCm39) |
I204N |
possibly damaging |
Het |
| Dock6 |
T |
C |
9: 21,755,576 (GRCm39) |
D216G |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,253,750 (GRCm39) |
D548N |
possibly damaging |
Het |
| Erich2 |
T |
C |
2: 70,364,636 (GRCm39) |
Y311H |
possibly damaging |
Het |
| Gm3985 |
A |
G |
8: 33,380,505 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
A |
G |
4: 155,627,524 (GRCm39) |
T102A |
possibly damaging |
Het |
| Hcfc2 |
C |
T |
10: 82,544,980 (GRCm39) |
A204V |
probably null |
Het |
| Hnrnpu |
T |
C |
1: 178,161,459 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
G |
5: 35,009,569 (GRCm39) |
T1517A |
probably damaging |
Het |
| Klhl6 |
T |
A |
16: 19,775,889 (GRCm39) |
D223V |
probably damaging |
Het |
| Kpna6 |
A |
G |
4: 129,551,572 (GRCm39) |
S71P |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,574,188 (GRCm39) |
D590G |
probably benign |
Het |
| Lipt1 |
T |
G |
1: 37,914,610 (GRCm39) |
L222R |
probably damaging |
Het |
| Lrrc41 |
A |
G |
4: 115,950,374 (GRCm39) |
|
probably benign |
Het |
| Lrrc59 |
T |
C |
11: 94,525,498 (GRCm39) |
V98A |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,910,692 (GRCm39) |
|
probably null |
Het |
| Mdc1 |
C |
T |
17: 36,161,286 (GRCm39) |
S733F |
probably benign |
Het |
| Mknk1 |
C |
T |
4: 115,735,383 (GRCm39) |
|
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,043,505 (GRCm39) |
F141S |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,778,428 (GRCm39) |
D1G |
possibly damaging |
Het |
| Or7c70 |
T |
G |
10: 78,683,409 (GRCm39) |
L113F |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,628,540 (GRCm39) |
V183E |
probably damaging |
Het |
| Pola2 |
T |
C |
19: 6,003,892 (GRCm39) |
Y161C |
probably damaging |
Het |
| Psen1 |
G |
A |
12: 83,778,552 (GRCm39) |
V412I |
probably benign |
Het |
| Psmc4 |
C |
A |
7: 27,746,937 (GRCm39) |
G77V |
probably damaging |
Het |
| Psmd3 |
A |
G |
11: 98,578,586 (GRCm39) |
Y207C |
probably damaging |
Het |
| Pxk |
T |
A |
14: 8,130,653 (GRCm38) |
M84K |
probably damaging |
Het |
| Rab44 |
A |
C |
17: 29,355,311 (GRCm39) |
Q19P |
probably damaging |
Het |
| Rbks |
A |
G |
5: 31,781,859 (GRCm39) |
Y314H |
probably benign |
Het |
| Rftn2 |
T |
C |
1: 55,253,399 (GRCm39) |
D68G |
possibly damaging |
Het |
| Rims2 |
T |
A |
15: 39,399,310 (GRCm39) |
S838R |
probably damaging |
Het |
| Sdc4 |
A |
T |
2: 164,273,138 (GRCm39) |
D57E |
probably damaging |
Het |
| Slfn14 |
A |
G |
11: 83,169,982 (GRCm39) |
L554P |
probably damaging |
Het |
| Spink2 |
G |
T |
5: 77,353,239 (GRCm39) |
D83E |
possibly damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Taar8b |
A |
T |
10: 23,968,030 (GRCm39) |
S55T |
possibly damaging |
Het |
| Tbca |
A |
G |
13: 94,968,918 (GRCm39) |
E35G |
probably benign |
Het |
| Tmc5 |
C |
A |
7: 118,228,052 (GRCm39) |
H307Q |
probably benign |
Het |
| Tmem169 |
A |
G |
1: 72,337,311 (GRCm39) |
D82G |
probably benign |
Het |
| Tmem72 |
T |
C |
6: 116,675,319 (GRCm39) |
T58A |
probably benign |
Het |
| Ttc7 |
C |
T |
17: 87,641,749 (GRCm39) |
P449S |
probably damaging |
Het |
| Ttf2 |
T |
C |
3: 100,868,722 (GRCm39) |
E449G |
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,129,857 (GRCm39) |
T659K |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,704,372 (GRCm39) |
Y98H |
probably damaging |
Het |
| Wfikkn2 |
A |
G |
11: 94,129,878 (GRCm39) |
Y88H |
probably benign |
Het |
| Zfp384 |
A |
T |
6: 125,007,811 (GRCm39) |
H247L |
probably damaging |
Het |
| Zfp526 |
C |
T |
7: 24,925,295 (GRCm39) |
A518V |
probably damaging |
Het |
| Zfp788 |
T |
A |
7: 41,296,992 (GRCm39) |
H47Q |
probably benign |
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 |
|
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 |
|
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'- TGGTATCACCCTTTGCAAGTC -3'
(R):5'- CCCAGCTCCTACTAAACAGTTCTG -3'
Sequencing Primer
(F):5'- GGTATCACCCTTTGCAAGTCAAGATC -3'
(R):5'- TGGAAGCCATCTAGAGTCACTTAC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation