Incidental Mutation 'R5605:Ceacam5'
| ID |
439244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam5
|
| Ensembl Gene |
ENSMUSG00000008789 |
| Gene Name |
CEA cell adhesion molecule 5 |
| Synonyms |
Psg30, 1600029H12Rik |
| MMRRC Submission |
043270-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R5605 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
17447163-17495057 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17481161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 303
(F303L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081907]
|
| AlphaFold |
Q3UKK2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081907
AA Change: F303L
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
AA Change: F303L
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l2 |
C |
A |
18: 67,575,425 (GRCm39) |
G83* |
probably null |
Het |
| Arap2 |
A |
T |
5: 62,772,410 (GRCm39) |
M1476K |
possibly damaging |
Het |
| Catsper2 |
G |
A |
2: 121,227,533 (GRCm39) |
R546C |
possibly damaging |
Het |
| Clvs1 |
A |
G |
4: 9,281,751 (GRCm39) |
D65G |
probably damaging |
Het |
| Coq5 |
T |
C |
5: 115,421,776 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,168,699 (GRCm39) |
V950E |
probably damaging |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,837,395 (GRCm39) |
D3936G |
possibly damaging |
Het |
| Doc2b |
T |
C |
11: 75,662,786 (GRCm39) |
E404G |
probably damaging |
Het |
| Dsg1b |
C |
T |
18: 20,532,596 (GRCm39) |
P547S |
probably benign |
Het |
| Eif1ad17 |
T |
A |
12: 87,978,768 (GRCm39) |
C51S |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,532,540 (GRCm39) |
Y356H |
probably damaging |
Het |
| Galnt6 |
C |
T |
15: 100,595,106 (GRCm39) |
R465Q |
probably damaging |
Het |
| Gbp5 |
T |
C |
3: 142,207,037 (GRCm39) |
S69P |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,655,507 (GRCm39) |
V562A |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,758,727 (GRCm39) |
V663D |
probably damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,455,085 (GRCm39) |
S593T |
probably benign |
Het |
| H2-Eb1 |
T |
C |
17: 34,528,807 (GRCm39) |
S113P |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,834,712 (GRCm39) |
R240C |
probably damaging |
Het |
| Iqub |
T |
C |
6: 24,505,620 (GRCm39) |
D96G |
probably benign |
Het |
| Irag1 |
C |
T |
7: 110,545,209 (GRCm39) |
C29Y |
possibly damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,502,481 (GRCm39) |
E858D |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,571,302 (GRCm39) |
I165N |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,353,643 (GRCm39) |
R539K |
probably damaging |
Het |
| Lrrc10 |
C |
A |
10: 116,881,805 (GRCm39) |
P160T |
probably damaging |
Het |
| Map3k12 |
G |
T |
15: 102,412,300 (GRCm39) |
D280E |
probably benign |
Het |
| Mcub |
T |
C |
3: 129,710,658 (GRCm39) |
E258G |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,765,664 (GRCm39) |
S5208P |
probably benign |
Het |
| Med20 |
C |
A |
17: 47,934,069 (GRCm39) |
|
probably benign |
Het |
| Mertk |
T |
C |
2: 128,580,227 (GRCm39) |
V227A |
probably benign |
Het |
| Ncstn |
A |
G |
1: 171,908,717 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,307,315 (GRCm39) |
|
probably null |
Het |
| Nfyc |
A |
G |
4: 120,647,686 (GRCm39) |
|
probably benign |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Nt5dc1 |
C |
T |
10: 34,279,691 (GRCm39) |
C117Y |
probably benign |
Het |
| Nup88 |
A |
T |
11: 70,834,896 (GRCm39) |
|
probably benign |
Het |
| Or6z7 |
C |
T |
7: 6,483,325 (GRCm39) |
V277M |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,757,949 (GRCm39) |
I193K |
probably benign |
Het |
| Pcsk2 |
T |
C |
2: 143,591,165 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,592,436 (GRCm39) |
C69* |
probably null |
Het |
| Polr1e |
A |
G |
4: 45,018,723 (GRCm39) |
T18A |
probably benign |
Het |
| Prima1 |
T |
A |
12: 103,166,163 (GRCm39) |
I124F |
probably benign |
Het |
| Rbm34 |
T |
C |
8: 127,676,169 (GRCm39) |
K382R |
probably benign |
Het |
| Rftn1 |
T |
G |
17: 50,354,435 (GRCm39) |
N309T |
probably damaging |
Het |
| Septin1 |
C |
T |
7: 126,814,598 (GRCm39) |
D260N |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,207,299 (GRCm39) |
V154A |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,609,606 (GRCm39) |
N1306K |
probably damaging |
Het |
| Stk4 |
T |
C |
2: 163,921,486 (GRCm39) |
F29S |
probably damaging |
Het |
| Stxbp5 |
A |
G |
10: 9,645,490 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,919,733 (GRCm39) |
T774A |
probably benign |
Het |
| Tinag |
A |
G |
9: 76,952,694 (GRCm39) |
Y97H |
probably damaging |
Het |
| Tpm1 |
T |
C |
9: 66,956,317 (GRCm39) |
E33G |
probably damaging |
Het |
| Usp17lb |
T |
C |
7: 104,489,847 (GRCm39) |
E359G |
probably benign |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,763 (GRCm39) |
E810G |
probably damaging |
Het |
| Vwce |
A |
T |
19: 10,635,402 (GRCm39) |
T633S |
possibly damaging |
Het |
| Ylpm1 |
G |
A |
12: 85,075,627 (GRCm39) |
R326H |
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 |
|
|
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'- TCCTCCAACTCAATATTCACAGTG -3'
(R):5'- GGGAAAGTCAATATGTCTAGTTCCTTC -3'
Sequencing Primer
(F):5'- CAGAATGTTGCTGTAGGG -3'
(R):5'- AGTTCCTTCTAGACAGTTCAGTG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation