Incidental Mutation 'R9021:Ceacam5'
| ID |
686204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ceacam5
|
| Ensembl Gene |
ENSMUSG00000008789 |
| Gene Name |
CEA cell adhesion molecule 5 |
| Synonyms |
Psg30, 1600029H12Rik |
| MMRRC Submission |
068851-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R9021 (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 17448877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 81
(Y81F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081907]
|
| AlphaFold |
Q3UKK2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081907
AA Change: Y81F
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
AA Change: Y81F
| 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 |
0.1894 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
G |
9: 104,003,864 (GRCm39) |
D770G |
possibly damaging |
Het |
| Amph |
G |
A |
13: 19,284,071 (GRCm39) |
G200D |
probably benign |
Het |
| Asap2 |
T |
A |
12: 21,253,999 (GRCm39) |
L170H |
possibly damaging |
Het |
| Asap3 |
T |
C |
4: 135,966,299 (GRCm39) |
|
probably null |
Het |
| Atxn2l |
A |
T |
7: 126,094,712 (GRCm39) |
M595K |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,052,493 (GRCm39) |
D3064E |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,445,679 (GRCm39) |
Y522* |
probably null |
Het |
| Chd2 |
A |
T |
7: 73,091,393 (GRCm39) |
M1616K |
probably benign |
Het |
| Clint1 |
T |
A |
11: 45,797,042 (GRCm39) |
S374R |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,586,745 (GRCm39) |
F1759I |
possibly damaging |
Het |
| Crocc |
T |
A |
4: 140,749,674 (GRCm39) |
I1487F |
probably benign |
Het |
| Dll4 |
TC |
T |
2: 119,163,054 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,402,490 (GRCm39) |
I1230T |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,808 (GRCm39) |
I2518L |
possibly damaging |
Het |
| Eps8l2 |
G |
T |
7: 140,936,117 (GRCm39) |
V224L |
possibly damaging |
Het |
| Etv1 |
T |
C |
12: 38,830,971 (GRCm39) |
V13A |
probably benign |
Het |
| Fam78a |
T |
C |
2: 31,959,313 (GRCm39) |
M266V |
probably benign |
Het |
| Fam81a |
A |
G |
9: 70,017,538 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
T |
C |
4: 141,709,620 (GRCm39) |
I245V |
probably damaging |
Het |
| Flot2 |
T |
C |
11: 77,949,805 (GRCm39) |
V378A |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,888,609 (GRCm39) |
S2718R |
probably damaging |
Het |
| Gata3os |
T |
A |
2: 9,887,345 (GRCm39) |
|
probably benign |
Het |
| Gm14305 |
A |
G |
2: 176,413,167 (GRCm39) |
K353R |
possibly damaging |
Het |
| Inppl1 |
A |
C |
7: 101,480,915 (GRCm39) |
V315G |
probably damaging |
Het |
| Kbtbd6 |
A |
T |
14: 79,690,822 (GRCm39) |
I506F |
probably damaging |
Het |
| Klf6 |
G |
C |
13: 5,915,160 (GRCm39) |
G200R |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,518,930 (GRCm39) |
I45T |
probably benign |
Het |
| Lrriq4 |
T |
G |
3: 30,704,401 (GRCm39) |
V143G |
probably benign |
Het |
| Map2k2 |
G |
T |
10: 80,955,159 (GRCm39) |
G217C |
probably damaging |
Het |
| Mcm10 |
T |
C |
2: 4,997,782 (GRCm39) |
N813S |
probably benign |
Het |
| Mfng |
T |
A |
15: 78,657,348 (GRCm39) |
N42I |
probably benign |
Het |
| Mical1 |
A |
G |
10: 41,361,141 (GRCm39) |
D808G |
probably benign |
Het |
| Mmp14 |
T |
C |
14: 54,673,632 (GRCm39) |
F99L |
probably benign |
Het |
| Mroh8 |
A |
T |
2: 157,064,787 (GRCm39) |
V763E |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,551,752 (GRCm39) |
P193T |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,821,142 (GRCm39) |
D447G |
possibly damaging |
Het |
| Myoz2 |
T |
A |
3: 122,807,284 (GRCm39) |
|
probably benign |
Het |
| Narf |
C |
A |
11: 121,136,209 (GRCm39) |
P195Q |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,818,745 (GRCm39) |
F496I |
probably damaging |
Het |
| Nudt13 |
A |
G |
14: 20,360,772 (GRCm39) |
Y225C |
probably damaging |
Het |
| Or10ab5 |
A |
T |
7: 108,245,428 (GRCm39) |
Y118* |
probably null |
Het |
| Or11h4 |
T |
G |
14: 50,974,554 (GRCm39) |
I22L |
probably benign |
Het |
| Or2i1 |
G |
T |
17: 37,508,380 (GRCm39) |
R85S |
possibly damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Osbpl10 |
C |
T |
9: 114,807,939 (GRCm39) |
A65V |
unknown |
Het |
| Pdcd2l |
A |
G |
7: 33,885,760 (GRCm39) |
L308P |
probably damaging |
Het |
| Pitx2 |
T |
A |
3: 129,008,432 (GRCm39) |
|
probably null |
Het |
| Pms2 |
T |
A |
5: 143,862,744 (GRCm39) |
F617Y |
probably damaging |
Het |
| Poc1b |
A |
G |
10: 98,980,183 (GRCm39) |
N180S |
possibly damaging |
Het |
| Poln |
T |
A |
5: 34,286,485 (GRCm39) |
M228L |
probably benign |
Het |
| Prex1 |
C |
A |
2: 166,432,429 (GRCm39) |
V707F |
possibly damaging |
Het |
| Rasal2 |
A |
T |
1: 157,058,514 (GRCm39) |
V12D |
unknown |
Het |
| Ripk1 |
A |
G |
13: 34,205,373 (GRCm39) |
E284G |
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,499,251 (GRCm39) |
W107R |
probably damaging |
Het |
| Selp |
A |
G |
1: 163,954,177 (GRCm39) |
Y159C |
probably damaging |
Het |
| Serpina1a |
A |
T |
12: 103,824,293 (GRCm39) |
W30R |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,065,579 (GRCm39) |
V325A |
probably damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,371,396 (GRCm39) |
R294G |
probably benign |
Het |
| Supt5 |
A |
T |
7: 28,016,671 (GRCm39) |
I737N |
probably damaging |
Het |
| Thap11 |
T |
C |
8: 106,582,660 (GRCm39) |
V223A |
probably damaging |
Het |
| Trabd |
T |
A |
15: 88,968,913 (GRCm39) |
S144T |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,933,949 (GRCm39) |
S701T |
probably damaging |
Het |
| Trim52 |
C |
T |
14: 106,344,986 (GRCm39) |
P215S |
possibly damaging |
Het |
| Vmn1r172 |
G |
T |
7: 23,359,749 (GRCm39) |
L211F |
probably damaging |
Het |
| Vmn2r86 |
A |
C |
10: 130,282,934 (GRCm39) |
Y561D |
probably damaging |
Het |
| Zfp384 |
C |
A |
6: 125,013,336 (GRCm39) |
A468E |
|
Het |
| Zfp658 |
A |
G |
7: 43,223,381 (GRCm39) |
H552R |
possibly damaging |
Het |
| Zranb2 |
T |
C |
3: 157,250,720 (GRCm39) |
V297A |
unknown |
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 |
|
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'- AACCTGCTGTCACCTGCCTA -3'
(R):5'- CAGGCAGGCATGATATTCTTTTGT -3'
Sequencing Primer
(F):5'- GCTGTCACCTGCCTACCACTG -3'
(R):5'- GTTTCTAGTGAAATGAATCCCACCC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation