Incidental Mutation 'R9157:Ceacam5'
| ID |
695436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam5
|
| Ensembl Gene |
ENSMUSG00000008789 |
| Gene Name |
CEA cell adhesion molecule 5 |
| Synonyms |
Psg30, 1600029H12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R9157 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
17447163-17495057 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 17493419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 814
(Y814F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081907]
|
| AlphaFold |
Q3UKK2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081907
AA Change: Y814F
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
AA Change: Y814F
| 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: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,207,220 (GRCm39) |
T324A |
probably benign |
Het |
| Adam9 |
A |
T |
8: 25,493,331 (GRCm39) |
F92L |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,411,624 (GRCm39) |
T376A |
probably damaging |
Het |
| Aff3 |
A |
C |
1: 38,249,559 (GRCm39) |
I516S |
probably benign |
Het |
| Bdp1 |
C |
T |
13: 100,186,436 (GRCm39) |
S1672N |
probably benign |
Het |
| Btc |
A |
T |
5: 91,513,980 (GRCm39) |
I94N |
probably damaging |
Het |
| Ccdc168 |
A |
G |
1: 44,096,520 (GRCm39) |
V1526A |
probably benign |
Het |
| Ccdc47 |
A |
T |
11: 106,093,208 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
A |
T |
9: 108,707,185 (GRCm39) |
R1223W |
probably damaging |
Het |
| Cenpc1 |
A |
G |
5: 86,166,316 (GRCm39) |
M779T |
probably benign |
Het |
| Cfap20dc |
T |
A |
14: 8,518,635 (GRCm38) |
T274S |
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,102,452 (GRCm39) |
I986T |
probably damaging |
Het |
| Dhx40 |
A |
T |
11: 86,662,050 (GRCm39) |
I669N |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 30,987,970 (GRCm39) |
I3483F |
probably damaging |
Het |
| Dzip3 |
C |
T |
16: 48,748,124 (GRCm39) |
G918D |
probably benign |
Het |
| Fam185a |
T |
G |
5: 21,660,837 (GRCm39) |
V284G |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 25,218,651 (GRCm39) |
S805P |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,980 (GRCm39) |
N856S |
probably benign |
Het |
| Gm12887 |
C |
T |
4: 121,473,701 (GRCm39) |
V50M |
probably benign |
Het |
| Gm45785 |
T |
C |
7: 140,398,616 (GRCm39) |
I94V |
unknown |
Het |
| Gm9195 |
A |
G |
14: 72,692,038 (GRCm39) |
I1616T |
unknown |
Het |
| Grm4 |
T |
A |
17: 27,653,956 (GRCm39) |
I665F |
probably benign |
Het |
| Hcls1 |
C |
T |
16: 36,777,000 (GRCm39) |
A230V |
probably benign |
Het |
| Hic1 |
A |
G |
11: 75,057,053 (GRCm39) |
L612P |
possibly damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,522,343 (GRCm39) |
V3519G |
probably benign |
Het |
| Hmgcs1 |
A |
G |
13: 120,165,963 (GRCm39) |
Y360C |
probably benign |
Het |
| Hspa12a |
A |
T |
19: 58,789,292 (GRCm39) |
M448K |
possibly damaging |
Het |
| Htt |
T |
G |
5: 34,987,171 (GRCm39) |
I1130S |
probably null |
Het |
| Irx3 |
A |
G |
8: 92,527,694 (GRCm39) |
Y59H |
probably damaging |
Het |
| Klc4 |
A |
G |
17: 46,950,361 (GRCm39) |
L280P |
probably damaging |
Het |
| Lrp1 |
G |
T |
10: 127,410,209 (GRCm39) |
N1512K |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Marco |
T |
C |
1: 120,421,814 (GRCm39) |
E130G |
probably damaging |
Het |
| Mdga1 |
G |
A |
17: 30,057,491 (GRCm39) |
T775M |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,988,804 (GRCm39) |
L184Q |
probably damaging |
Het |
| Msi2 |
A |
C |
11: 88,608,889 (GRCm39) |
S10A |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
| Ngfr |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 95,478,316 (GRCm39) |
|
probably benign |
Het |
| Nradd |
A |
G |
9: 110,451,188 (GRCm39) |
L60P |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,188,456 (GRCm39) |
Y39C |
probably benign |
Het |
| Odf2 |
G |
T |
2: 29,816,815 (GRCm39) |
G754C |
probably benign |
Het |
| Or10a2 |
A |
T |
7: 106,673,214 (GRCm39) |
M60L |
probably damaging |
Het |
| Or12d15 |
A |
G |
17: 37,694,183 (GRCm39) |
M242V |
probably benign |
Het |
| Or13d1 |
A |
G |
4: 52,971,419 (GRCm39) |
Y266C |
possibly damaging |
Het |
| Or4b1 |
A |
G |
2: 89,979,522 (GRCm39) |
I276T |
possibly damaging |
Het |
| Osbpl6 |
C |
T |
2: 76,382,468 (GRCm39) |
P222S |
probably benign |
Het |
| Pcdhga3 |
T |
C |
18: 37,809,229 (GRCm39) |
Y561H |
probably benign |
Het |
| Phykpl |
G |
A |
11: 51,490,375 (GRCm39) |
V419I |
probably benign |
Het |
| Pskh1 |
A |
G |
8: 106,640,142 (GRCm39) |
Y274C |
possibly damaging |
Het |
| Rap1gap |
G |
T |
4: 137,444,742 (GRCm39) |
V219F |
probably damaging |
Het |
| Rapgef4 |
C |
A |
2: 72,005,212 (GRCm39) |
H220N |
probably benign |
Het |
| Rcor3 |
G |
T |
1: 191,810,181 (GRCm39) |
H165Q |
possibly damaging |
Het |
| Reg3d |
T |
C |
6: 78,354,422 (GRCm39) |
T60A |
possibly damaging |
Het |
| Rgs9 |
T |
A |
11: 109,116,549 (GRCm39) |
D644V |
probably damaging |
Het |
| Rhob |
T |
A |
12: 8,549,319 (GRCm39) |
H105L |
probably benign |
Het |
| Rph3a |
T |
C |
5: 121,101,892 (GRCm39) |
K115E |
probably damaging |
Het |
| Rsf1 |
GG |
GGGGACGGCCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scn4b |
T |
A |
9: 45,058,013 (GRCm39) |
V35E |
probably damaging |
Het |
| Serpina3i |
T |
C |
12: 104,231,672 (GRCm39) |
I103T |
probably damaging |
Het |
| Sidt2 |
T |
C |
9: 45,852,658 (GRCm39) |
T776A |
possibly damaging |
Het |
| Slc15a1 |
T |
C |
14: 121,702,389 (GRCm39) |
I586V |
probably benign |
Het |
| Slc15a5 |
A |
T |
6: 137,961,456 (GRCm39) |
V213E |
|
Het |
| Stard13 |
C |
A |
5: 151,157,152 (GRCm39) |
A10S |
probably benign |
Het |
| Taf6 |
C |
A |
5: 138,179,221 (GRCm39) |
V406F |
possibly damaging |
Het |
| Tap2 |
G |
T |
17: 34,431,004 (GRCm39) |
R368L |
possibly damaging |
Het |
| Tmem236 |
T |
C |
2: 14,223,889 (GRCm39) |
V226A |
probably benign |
Het |
| Tmem87a |
T |
A |
2: 120,210,093 (GRCm39) |
I287F |
possibly damaging |
Het |
| Ttll13 |
A |
T |
7: 79,904,428 (GRCm39) |
K351I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,581,245 (GRCm39) |
Y23216F |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,201,244 (GRCm39) |
T238A |
probably benign |
Het |
| Vmn2r54 |
T |
C |
7: 12,366,055 (GRCm39) |
Y293C |
possibly damaging |
Het |
| Vsig10l |
T |
C |
7: 43,112,948 (GRCm39) |
S69P |
|
Het |
| Wdr83 |
G |
A |
8: 85,806,432 (GRCm39) |
T122I |
probably damaging |
Het |
| Zfp219 |
A |
G |
14: 52,246,200 (GRCm39) |
V309A |
probably damaging |
Het |
| Zfp354a |
C |
T |
11: 50,960,788 (GRCm39) |
S332F |
probably damaging |
Het |
| Zfp354b |
T |
C |
11: 50,813,887 (GRCm39) |
N346S |
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 |
|
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 |
|
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'- CCTCGGAATATTGCTGTAGGG -3'
(R):5'- ATTGCCCAAACCCCAGTGTG -3'
Sequencing Primer
(F):5'- CTGTAGGGAAAAGTGTTCTTCTCC -3'
(R):5'- TGGCTCTTTCTAGACAGGACAGC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation