Incidental Mutation 'R9372:Ceacam5'
| ID |
709381 |
| 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: 0.055)
|
| Stock # |
R9372 (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 C
at 17481267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 338
(I338T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081907]
|
| AlphaFold |
Q3UKK2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081907
AA Change: I338T
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080582
Gene: ENSMUSG00000008789
AA Change: I338T
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| Aass |
T |
C |
6: 23,078,856 (GRCm39) |
T719A |
probably damaging |
Het |
| Abcb8 |
A |
G |
5: 24,605,114 (GRCm39) |
E100G |
probably benign |
Het |
| Actr1b |
C |
T |
1: 36,741,561 (GRCm39) |
E104K |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 79,985,094 (GRCm39) |
S60R |
possibly damaging |
Het |
| Bcan |
G |
T |
3: 87,895,610 (GRCm39) |
A842D |
probably benign |
Het |
| Cacna2d2 |
G |
A |
9: 107,394,802 (GRCm39) |
E623K |
probably benign |
Het |
| Cdk15 |
T |
C |
1: 59,370,142 (GRCm39) |
Y393H |
probably benign |
Het |
| Ceacam12 |
C |
T |
7: 17,803,229 (GRCm39) |
R212C |
probably benign |
Het |
| Crcp |
A |
G |
5: 130,088,664 (GRCm39) |
D139G |
possibly damaging |
Het |
| Crls1 |
T |
A |
2: 132,707,802 (GRCm39) |
Y290* |
probably null |
Het |
| Dcun1d5 |
A |
G |
9: 7,206,780 (GRCm39) |
N206D |
probably damaging |
Het |
| Dmtf1 |
A |
T |
5: 9,190,399 (GRCm39) |
V105E |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,543,474 (GRCm39) |
Y2232C |
probably benign |
Het |
| Dnajc25 |
T |
A |
4: 59,003,394 (GRCm39) |
V55E |
probably damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,303,343 (GRCm39) |
M193V |
possibly damaging |
Het |
| Dsc1 |
A |
T |
18: 20,221,489 (GRCm39) |
V662E |
probably damaging |
Het |
| Enpp6 |
G |
A |
8: 47,506,627 (GRCm39) |
V144I |
possibly damaging |
Het |
| Fip1l1 |
A |
G |
5: 74,707,463 (GRCm39) |
T204A |
possibly damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,793,795 (GRCm39) |
V57A |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,822,756 (GRCm39) |
I6163S |
possibly damaging |
Het |
| Gipr |
T |
A |
7: 18,896,863 (GRCm39) |
M136L |
probably benign |
Het |
| Gm7298 |
A |
G |
6: 121,748,746 (GRCm39) |
I674V |
probably benign |
Het |
| Gtf2a1 |
C |
T |
12: 91,534,592 (GRCm39) |
V221I |
probably damaging |
Het |
| Haus3 |
A |
T |
5: 34,321,002 (GRCm39) |
D481E |
probably benign |
Het |
| Hinfp |
A |
C |
9: 44,209,083 (GRCm39) |
V345G |
probably damaging |
Het |
| Hs3st5 |
A |
T |
10: 36,708,698 (GRCm39) |
K78* |
probably null |
Het |
| Ighv1-31 |
T |
C |
12: 114,792,894 (GRCm39) |
Y114C |
probably damaging |
Het |
| Ighv5-15 |
T |
A |
12: 113,790,357 (GRCm39) |
T88S |
probably damaging |
Het |
| Ildr1 |
G |
A |
16: 36,542,721 (GRCm39) |
D418N |
probably damaging |
Het |
| Ints10 |
C |
T |
8: 69,271,967 (GRCm39) |
T556I |
probably damaging |
Het |
| Isoc1 |
G |
T |
18: 58,792,757 (GRCm39) |
R65L |
possibly damaging |
Het |
| Itm2c |
C |
T |
1: 85,833,055 (GRCm39) |
R130C |
probably damaging |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Kif11 |
T |
C |
19: 37,399,892 (GRCm39) |
V793A |
probably benign |
Het |
| Klrg1 |
A |
C |
6: 122,256,699 (GRCm39) |
V29G |
probably benign |
Het |
| Lrch4 |
A |
G |
5: 137,631,953 (GRCm39) |
T114A |
possibly damaging |
Het |
| Map3k3 |
C |
T |
11: 106,033,335 (GRCm39) |
T196M |
probably damaging |
Het |
| Marchf1 |
C |
A |
8: 66,921,145 (GRCm39) |
T274N |
probably benign |
Het |
| Nxpe5 |
A |
T |
5: 138,249,445 (GRCm39) |
T412S |
probably benign |
Het |
| Or10q1 |
C |
T |
19: 13,727,069 (GRCm39) |
H200Y |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,258,960 (GRCm39) |
W502R |
probably damaging |
Het |
| Pfdn5 |
T |
C |
15: 102,235,286 (GRCm39) |
|
probably null |
Het |
| Pkn2 |
A |
T |
3: 142,535,018 (GRCm39) |
V232E |
probably damaging |
Het |
| Ppfibp1 |
T |
C |
6: 146,898,307 (GRCm39) |
S88P |
probably damaging |
Het |
| Prr23a4 |
A |
G |
9: 98,785,478 (GRCm39) |
I48V |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 23,045,706 (GRCm39) |
E2159K |
probably damaging |
Het |
| Smyd3 |
T |
C |
1: 178,871,470 (GRCm39) |
E303G |
possibly damaging |
Het |
| Snx13 |
T |
A |
12: 35,151,048 (GRCm39) |
N336K |
possibly damaging |
Het |
| Src |
A |
G |
2: 157,311,808 (GRCm39) |
E512G |
possibly damaging |
Het |
| Stard9 |
T |
A |
2: 120,495,420 (GRCm39) |
C98* |
probably null |
Het |
| Tapbpl |
A |
G |
6: 125,203,672 (GRCm39) |
V336A |
probably benign |
Het |
| Tbrg1 |
G |
A |
9: 37,563,945 (GRCm39) |
T230I |
probably damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tmem132c |
G |
A |
5: 127,640,145 (GRCm39) |
G772D |
probably damaging |
Het |
| Tmem219 |
C |
T |
7: 126,496,017 (GRCm39) |
G119S |
possibly damaging |
Het |
| Ttbk2 |
T |
A |
2: 120,603,766 (GRCm39) |
S325C |
probably benign |
Het |
| Ttc28 |
A |
T |
5: 111,331,073 (GRCm39) |
Y431F |
probably benign |
Het |
| Vmn1r27 |
A |
T |
6: 58,192,746 (GRCm39) |
M86K |
possibly damaging |
Het |
| Vmn2r15 |
G |
A |
5: 109,441,953 (GRCm39) |
P160L |
possibly damaging |
Het |
| Zfc3h1 |
A |
T |
10: 115,221,223 (GRCm39) |
S41C |
unknown |
Het |
| Zfp260 |
C |
A |
7: 29,804,232 (GRCm39) |
T44K |
probably benign |
Het |
| Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,774,800 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
A |
G |
17: 21,941,035 (GRCm39) |
N70S |
probably benign |
Het |
| Zfp788 |
T |
A |
7: 41,299,708 (GRCm39) |
Y781* |
probably null |
Het |
| Zfp800 |
A |
T |
6: 28,256,433 (GRCm39) |
S52T |
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 |
|
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 |
|
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'- GTTGCTGTAGGGAAAACTGTTC -3'
(R):5'- GCACCATGTGAGTCCTACAC -3'
Sequencing Primer
(F):5'- GCTGTAGGGAAAACTGTTCTTCTC -3'
(R):5'- TGTGAGTCCTACACTAAATGCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation