Incidental Mutation 'R7411:Ceacam5'
| ID |
575076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam5
|
| Ensembl Gene |
ENSMUSG00000008789 |
| Gene Name |
CEA cell adhesion molecule 5 |
| Synonyms |
Psg30, 1600029H12Rik |
| MMRRC Submission |
045492-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R7411 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
17447163-17495057 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 17484678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 473
(D473E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081907]
|
| AlphaFold |
Q3UKK2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081907
AA Change: D473E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
AA Change: D473E
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
T |
19: 3,767,241 (GRCm39) |
T276I |
possibly damaging |
Het |
| Abca17 |
A |
G |
17: 24,547,543 (GRCm39) |
I277T |
possibly damaging |
Het |
| Abcb11 |
C |
T |
2: 69,134,280 (GRCm39) |
|
probably null |
Het |
| Abcc12 |
C |
A |
8: 87,287,479 (GRCm39) |
R122L |
possibly damaging |
Het |
| Abcc8 |
A |
G |
7: 45,815,341 (GRCm39) |
|
probably null |
Het |
| Adam28 |
C |
T |
14: 68,864,396 (GRCm39) |
R469K |
probably damaging |
Het |
| Adamts18 |
T |
C |
8: 114,504,362 (GRCm39) |
Y243C |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,791,754 (GRCm39) |
S619P |
probably damaging |
Het |
| Alpk3 |
A |
T |
7: 80,742,600 (GRCm39) |
T806S |
probably benign |
Het |
| Armh3 |
A |
C |
19: 45,953,874 (GRCm39) |
V170G |
probably benign |
Het |
| Atoh1 |
T |
A |
6: 64,706,914 (GRCm39) |
I203N |
probably damaging |
Het |
| Cables1 |
A |
G |
18: 11,973,572 (GRCm39) |
E237G |
probably benign |
Het |
| Cacna1d |
A |
G |
14: 30,074,947 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc91 |
C |
T |
6: 147,493,696 (GRCm39) |
Q363* |
probably null |
Het |
| Cdhr17 |
A |
T |
5: 17,029,763 (GRCm39) |
T500S |
possibly damaging |
Het |
| Cfap54 |
T |
A |
10: 92,704,617 (GRCm39) |
D2821V |
unknown |
Het |
| Clca3a2 |
A |
G |
3: 144,507,860 (GRCm39) |
S737P |
probably damaging |
Het |
| Clec4n |
T |
A |
6: 123,209,145 (GRCm39) |
M70K |
probably benign |
Het |
| Dnai3 |
A |
G |
3: 145,802,900 (GRCm39) |
V97A |
probably damaging |
Het |
| Dstyk |
G |
A |
1: 132,345,404 (GRCm39) |
G21S |
probably benign |
Het |
| Efcab3 |
T |
G |
11: 104,890,549 (GRCm39) |
N4210K |
probably benign |
Het |
| Enpp5 |
A |
G |
17: 44,392,366 (GRCm39) |
D265G |
probably damaging |
Het |
| Gabrb1 |
T |
C |
5: 72,279,538 (GRCm39) |
|
probably null |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Guk1 |
A |
G |
11: 59,076,811 (GRCm39) |
F91L |
|
Het |
| Ints1 |
C |
T |
5: 139,750,015 (GRCm39) |
E961K |
possibly damaging |
Het |
| Irx2 |
T |
A |
13: 72,777,182 (GRCm39) |
M1K |
probably null |
Het |
| Jrk |
C |
T |
15: 74,579,048 (GRCm39) |
R79H |
possibly damaging |
Het |
| Kcnu1 |
G |
T |
8: 26,382,116 (GRCm39) |
V489L |
probably damaging |
Het |
| Kctd7 |
C |
T |
5: 130,181,265 (GRCm39) |
T209M |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,403,776 (GRCm39) |
V1127E |
probably damaging |
Het |
| Klk6 |
A |
G |
7: 43,476,367 (GRCm39) |
H69R |
probably damaging |
Het |
| Lck |
T |
C |
4: 129,445,763 (GRCm39) |
K340R |
probably benign |
Het |
| Lrrc75a |
A |
G |
11: 62,496,734 (GRCm39) |
L276P |
probably damaging |
Het |
| Med25 |
A |
G |
7: 44,527,667 (GRCm39) |
W730R |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,570,140 (GRCm39) |
V400A |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myt1 |
C |
A |
2: 181,456,899 (GRCm39) |
H906Q |
probably damaging |
Het |
| Ncl |
A |
T |
1: 86,278,564 (GRCm39) |
F673I |
probably damaging |
Het |
| Nfe2l1 |
G |
T |
11: 96,713,009 (GRCm39) |
T216N |
probably benign |
Het |
| Nos2 |
G |
A |
11: 78,835,681 (GRCm39) |
|
probably null |
Het |
| Nphp4 |
T |
A |
4: 152,639,174 (GRCm39) |
I935N |
probably benign |
Het |
| Ntn1 |
G |
A |
11: 68,276,915 (GRCm39) |
A11V |
probably benign |
Het |
| Or2t26 |
A |
T |
11: 49,039,821 (GRCm39) |
M246L |
probably benign |
Het |
| Or4c10b |
T |
C |
2: 89,711,605 (GRCm39) |
V145A |
probably damaging |
Het |
| Pate11 |
T |
C |
9: 36,386,980 (GRCm39) |
V16A |
possibly damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,154,661 (GRCm39) |
Y460C |
probably damaging |
Het |
| Pcdha4 |
G |
T |
18: 37,086,111 (GRCm39) |
R98L |
probably benign |
Het |
| Pitpnc1 |
A |
G |
11: 107,103,398 (GRCm39) |
S234P |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,240,503 (GRCm39) |
Y195F |
probably damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,502,125 (GRCm39) |
I164T |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,511,273 (GRCm39) |
|
probably null |
Het |
| Rhbdl2 |
G |
A |
4: 123,723,435 (GRCm39) |
A280T |
possibly damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Sema3a |
T |
G |
5: 13,566,230 (GRCm39) |
Y171* |
probably null |
Het |
| Set |
A |
G |
2: 29,956,897 (GRCm39) |
E22G |
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,608,057 (GRCm39) |
D229E |
probably benign |
Het |
| Slc12a2 |
A |
T |
18: 58,074,085 (GRCm39) |
I1096F |
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,954,688 (GRCm39) |
I159V |
probably benign |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,777 (GRCm39) |
|
probably benign |
Het |
| Slc6a20b |
A |
G |
9: 123,434,013 (GRCm39) |
I275T |
probably benign |
Het |
| Speer1e |
T |
A |
5: 11,233,116 (GRCm39) |
|
probably null |
Het |
| Stradb |
A |
C |
1: 59,027,677 (GRCm39) |
D69A |
possibly damaging |
Het |
| Supt16 |
A |
T |
14: 52,415,508 (GRCm39) |
V409E |
probably damaging |
Het |
| Tcea2 |
A |
G |
2: 181,328,457 (GRCm39) |
N195S |
probably damaging |
Het |
| Thumpd3 |
T |
C |
6: 113,033,072 (GRCm39) |
V270A |
possibly damaging |
Het |
| Urgcp |
T |
A |
11: 5,668,116 (GRCm39) |
H117L |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,879,283 (GRCm39) |
M3408K |
probably damaging |
Het |
| Wdfy4 |
A |
C |
14: 32,828,088 (GRCm39) |
M1078R |
|
Het |
| Ypel5 |
G |
A |
17: 73,153,439 (GRCm39) |
|
probably null |
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 |
|
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'- ATAGAATCAGTGCCACCGAGC -3'
(R):5'- CACGGTGAAGTTTTGGAAGG -3'
Sequencing Primer
(F):5'- TGCCACCGAGCATTGTTGAAG -3'
(R):5'- TTTTGGAAGGAGACACAATACAGGC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation