Incidental Mutation 'PIT4445001:Ceacam1'
ID |
555405 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ceacam1
|
Ensembl Gene |
ENSMUSG00000074272 |
Gene Name |
CEA cell adhesion molecule 1 |
Synonyms |
C-CAM, Hv-2, mmCGM1, Hv2, Cea7, mCEA1, MHVR1, CD66a, Cc1, Cea-1, mmCGM2, Cea-7, Bgp1, Mhv-1, Cea1, Bgp |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
PIT4445001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
25161132-25177028 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 25175881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 104
(N104K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098666]
[ENSMUST00000098668]
[ENSMUST00000098669]
[ENSMUST00000205308]
[ENSMUST00000206171]
[ENSMUST00000206583]
[ENSMUST00000206676]
[ENSMUST00000206687]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098666
AA Change: N104K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096263 Gene: ENSMUSG00000074272 AA Change: N104K
Domain | Start | End | E-Value | Type |
Pfam:V-set
|
18 |
140 |
1e-21 |
PFAM |
IGc2
|
158 |
224 |
1.61e-7 |
SMART |
IGc2
|
252 |
308 |
5.04e-9 |
SMART |
IGc2
|
337 |
401 |
8.37e-15 |
SMART |
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098668
AA Change: N104K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096265 Gene: ENSMUSG00000074272 AA Change: N104K
Domain | Start | End | E-Value | Type |
Pfam:V-set
|
12 |
140 |
2.4e-21 |
PFAM |
IGc2
|
157 |
221 |
8.37e-15 |
SMART |
transmembrane domain
|
246 |
268 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098669
AA Change: N104K
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000096266 Gene: ENSMUSG00000074272 AA Change: N104K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
34 |
N/A |
INTRINSIC |
Pfam:V-set
|
39 |
141 |
3.6e-13 |
PFAM |
IGc2
|
158 |
224 |
1.61e-7 |
SMART |
IGc2
|
252 |
308 |
5.04e-9 |
SMART |
IGc2
|
337 |
401 |
8.37e-15 |
SMART |
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205308
AA Change: N104K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206171
AA Change: N104K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206583
AA Change: N104K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206676
AA Change: N104K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206687
AA Change: N104K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 93.5%
- 3x: 90.8%
- 10x: 84.5%
- 20x: 70.9%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice lacking appreciable levels of the two isoforms containing 4 Ig domains and having increased levels of the two isoforms containing 2 Ig domains are viable and fertile. They are significantly more resistant to mouse hepatitis virus than wild-type mice. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,966,377 (GRCm39) |
K419E |
probably damaging |
Het |
Adam7 |
T |
A |
14: 68,747,197 (GRCm39) |
K587N |
possibly damaging |
Het |
Agl |
T |
C |
3: 116,565,109 (GRCm39) |
M382V |
|
Het |
Agpat3 |
A |
T |
10: 78,109,927 (GRCm39) |
F341I |
possibly damaging |
Het |
Ampd2 |
A |
T |
3: 107,982,328 (GRCm39) |
L767Q |
probably damaging |
Het |
Arhgap28 |
A |
T |
17: 68,203,230 (GRCm39) |
D124E |
possibly damaging |
Het |
Arhgap32 |
T |
C |
9: 32,172,152 (GRCm39) |
L1644P |
probably damaging |
Het |
Asic4 |
T |
C |
1: 75,427,771 (GRCm39) |
V99A |
probably benign |
Het |
Asns |
T |
A |
6: 7,689,277 (GRCm39) |
N75I |
probably damaging |
Het |
Atp10a |
A |
G |
7: 58,453,215 (GRCm39) |
D798G |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,780,003 (GRCm39) |
V1145A |
|
Het |
Ccdc171 |
A |
G |
4: 83,579,984 (GRCm39) |
Q577R |
probably damaging |
Het |
Cd247 |
T |
A |
1: 165,688,605 (GRCm39) |
D154E |
probably damaging |
Het |
Chfr |
A |
G |
5: 110,299,543 (GRCm39) |
D312G |
possibly damaging |
Het |
Ddb1 |
C |
A |
19: 10,603,334 (GRCm39) |
L881I |
probably damaging |
Het |
Dgkh |
A |
T |
14: 78,813,382 (GRCm39) |
I1032N |
possibly damaging |
Het |
Efcab6 |
A |
T |
15: 83,788,468 (GRCm39) |
V942D |
probably benign |
Het |
Fmo5 |
A |
G |
3: 97,558,844 (GRCm39) |
T435A |
probably benign |
Het |
Fpr1 |
T |
C |
17: 18,097,155 (GRCm39) |
Q278R |
probably benign |
Het |
Fzr1 |
C |
T |
10: 81,205,228 (GRCm39) |
W256* |
probably null |
Het |
Gabrb1 |
T |
C |
5: 72,266,125 (GRCm39) |
S261P |
probably damaging |
Het |
Galr2 |
G |
T |
11: 116,172,474 (GRCm39) |
A55S |
probably benign |
Het |
Gbp2 |
A |
T |
3: 142,343,227 (GRCm39) |
K581N |
probably benign |
Het |
Gria1 |
A |
T |
11: 57,076,664 (GRCm39) |
Y89F |
probably damaging |
Het |
Ibsp |
T |
A |
5: 104,450,170 (GRCm39) |
I26N |
possibly damaging |
Het |
Igf1r |
T |
C |
7: 67,857,211 (GRCm39) |
F1058L |
probably damaging |
Het |
Ighv1-16 |
A |
C |
12: 114,629,680 (GRCm39) |
C36G |
probably benign |
Het |
Igll1 |
T |
C |
16: 16,678,783 (GRCm39) |
T176A |
probably benign |
Het |
Ilkap |
T |
C |
1: 91,313,067 (GRCm39) |
T143A |
probably benign |
Het |
Kdm3b |
A |
T |
18: 34,926,168 (GRCm39) |
K103* |
probably null |
Het |
Mphosph9 |
A |
G |
5: 124,436,853 (GRCm39) |
I497T |
possibly damaging |
Het |
Mrgpra3 |
G |
A |
7: 47,239,908 (GRCm39) |
T6I |
possibly damaging |
Het |
Mrpl38 |
T |
C |
11: 116,023,384 (GRCm39) |
|
probably null |
Het |
Myo3a |
A |
T |
2: 22,434,457 (GRCm39) |
E813V |
possibly damaging |
Het |
Myo7b |
G |
T |
18: 32,092,519 (GRCm39) |
Q2093K |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,095,405 (GRCm39) |
K1851R |
probably damaging |
Het |
P3h2 |
T |
A |
16: 25,803,749 (GRCm39) |
D339V |
probably benign |
Het |
Pcdhb6 |
C |
A |
18: 37,468,300 (GRCm39) |
P407Q |
possibly damaging |
Het |
Plch2 |
C |
A |
4: 155,093,483 (GRCm39) |
R153L |
probably damaging |
Het |
Plppr4 |
G |
A |
3: 117,153,957 (GRCm39) |
|
probably benign |
Het |
Ppp1r3a |
A |
G |
6: 14,717,776 (GRCm39) |
F1046S |
probably damaging |
Het |
Pramel41 |
T |
G |
5: 94,596,366 (GRCm39) |
W468G |
probably benign |
Het |
Prkacb |
A |
T |
3: 146,461,446 (GRCm39) |
L107M |
probably benign |
Het |
Ranbp17 |
A |
G |
11: 33,431,020 (GRCm39) |
|
probably null |
Het |
Rasl11b |
C |
A |
5: 74,357,994 (GRCm39) |
P88Q |
probably damaging |
Het |
Rcc2 |
A |
G |
4: 140,448,460 (GRCm39) |
E503G |
possibly damaging |
Het |
Rnf216 |
T |
A |
5: 143,071,758 (GRCm39) |
K407N |
probably damaging |
Het |
Rusf1 |
A |
G |
7: 127,875,706 (GRCm39) |
V243A |
probably benign |
Het |
Scrn3 |
G |
A |
2: 73,148,673 (GRCm39) |
M81I |
possibly damaging |
Het |
Scube2 |
T |
C |
7: 109,408,387 (GRCm39) |
T687A |
probably benign |
Het |
Serpinb10 |
T |
A |
1: 107,463,728 (GRCm39) |
F3L |
probably benign |
Het |
Sgcb |
C |
T |
5: 73,797,155 (GRCm39) |
V202I |
probably damaging |
Het |
Sgce |
A |
G |
6: 4,689,654 (GRCm39) |
V429A |
possibly damaging |
Het |
Sh3rf2 |
T |
C |
18: 42,286,229 (GRCm39) |
V574A |
probably benign |
Het |
Sncaip |
T |
C |
18: 53,002,016 (GRCm39) |
L179S |
probably damaging |
Het |
Sntg2 |
A |
T |
12: 30,362,571 (GRCm39) |
D58E |
probably damaging |
Het |
Taar3 |
T |
C |
10: 23,825,586 (GRCm39) |
I44T |
possibly damaging |
Het |
Tmem87b |
G |
A |
2: 128,673,391 (GRCm39) |
V227I |
probably benign |
Het |
Tnfsf9 |
T |
C |
17: 57,412,517 (GRCm39) |
L29P |
possibly damaging |
Het |
Tnip2 |
T |
C |
5: 34,654,215 (GRCm39) |
H391R |
probably benign |
Het |
Traf5 |
A |
G |
1: 191,729,768 (GRCm39) |
Y125H |
|
Het |
Ttc23 |
T |
G |
7: 67,316,961 (GRCm39) |
I77M |
probably damaging |
Het |
Ube2l3 |
T |
C |
16: 16,978,036 (GRCm39) |
N43S |
probably benign |
Het |
Vars2 |
A |
T |
17: 35,977,103 (GRCm39) |
C142* |
probably null |
Het |
Vmn2r15 |
A |
C |
5: 109,435,008 (GRCm39) |
D565E |
probably damaging |
Het |
Vmn2r56 |
C |
T |
7: 12,449,153 (GRCm39) |
|
probably null |
Het |
Vmn2r79 |
A |
T |
7: 86,651,408 (GRCm39) |
D269V |
possibly damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,261,572 (GRCm39) |
M255K |
probably benign |
Het |
Wfdc6a |
T |
A |
2: 164,421,746 (GRCm39) |
*137C |
probably null |
Het |
Wipi2 |
T |
C |
5: 142,652,639 (GRCm39) |
V417A |
probably benign |
Het |
Xirp2 |
G |
T |
2: 67,340,116 (GRCm39) |
V786L |
possibly damaging |
Het |
Zdhhc13 |
G |
A |
7: 48,445,697 (GRCm39) |
G26S |
probably benign |
Het |
Zscan25 |
T |
A |
5: 145,227,422 (GRCm39) |
V362D |
probably damaging |
Het |
|
Other mutations in Ceacam1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00701:Ceacam1
|
APN |
7 |
25,171,339 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01766:Ceacam1
|
APN |
7 |
25,171,420 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02094:Ceacam1
|
APN |
7 |
25,173,968 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02869:Ceacam1
|
APN |
7 |
25,175,966 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03325:Ceacam1
|
APN |
7 |
25,175,912 (GRCm39) |
missense |
possibly damaging |
0.83 |
PIT4810001:Ceacam1
|
UTSW |
7 |
25,171,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R0464:Ceacam1
|
UTSW |
7 |
25,171,442 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1270:Ceacam1
|
UTSW |
7 |
25,165,739 (GRCm39) |
splice site |
probably null |
|
R1771:Ceacam1
|
UTSW |
7 |
25,171,469 (GRCm39) |
missense |
probably benign |
0.17 |
R1819:Ceacam1
|
UTSW |
7 |
25,163,285 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1964:Ceacam1
|
UTSW |
7 |
25,174,133 (GRCm39) |
missense |
probably benign |
0.13 |
R2048:Ceacam1
|
UTSW |
7 |
25,176,113 (GRCm39) |
missense |
probably benign |
0.09 |
R2760:Ceacam1
|
UTSW |
7 |
25,176,899 (GRCm39) |
missense |
probably damaging |
0.99 |
R2857:Ceacam1
|
UTSW |
7 |
25,173,442 (GRCm39) |
missense |
probably damaging |
0.96 |
R2859:Ceacam1
|
UTSW |
7 |
25,173,442 (GRCm39) |
missense |
probably damaging |
0.96 |
R3546:Ceacam1
|
UTSW |
7 |
25,171,339 (GRCm39) |
missense |
probably benign |
0.07 |
R4471:Ceacam1
|
UTSW |
7 |
25,174,025 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4606:Ceacam1
|
UTSW |
7 |
25,173,951 (GRCm39) |
missense |
probably damaging |
0.97 |
R4810:Ceacam1
|
UTSW |
7 |
25,173,945 (GRCm39) |
makesense |
probably null |
|
R5291:Ceacam1
|
UTSW |
7 |
25,171,256 (GRCm39) |
missense |
probably damaging |
0.99 |
R5405:Ceacam1
|
UTSW |
7 |
25,163,290 (GRCm39) |
missense |
probably benign |
0.41 |
R5423:Ceacam1
|
UTSW |
7 |
25,173,951 (GRCm39) |
missense |
probably benign |
0.01 |
R5851:Ceacam1
|
UTSW |
7 |
25,174,025 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5967:Ceacam1
|
UTSW |
7 |
25,174,167 (GRCm39) |
missense |
probably damaging |
0.97 |
R6216:Ceacam1
|
UTSW |
7 |
25,171,421 (GRCm39) |
missense |
probably benign |
0.19 |
R6235:Ceacam1
|
UTSW |
7 |
25,171,217 (GRCm39) |
splice site |
probably null |
|
R6323:Ceacam1
|
UTSW |
7 |
25,174,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R6545:Ceacam1
|
UTSW |
7 |
25,173,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R7371:Ceacam1
|
UTSW |
7 |
25,174,145 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7760:Ceacam1
|
UTSW |
7 |
25,171,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R7790:Ceacam1
|
UTSW |
7 |
25,173,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R7869:Ceacam1
|
UTSW |
7 |
25,175,954 (GRCm39) |
missense |
probably damaging |
0.97 |
R7934:Ceacam1
|
UTSW |
7 |
25,163,220 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8189:Ceacam1
|
UTSW |
7 |
25,173,343 (GRCm39) |
missense |
probably damaging |
0.96 |
R8907:Ceacam1
|
UTSW |
7 |
25,171,444 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8967:Ceacam1
|
UTSW |
7 |
25,163,297 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9055:Ceacam1
|
UTSW |
7 |
25,171,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R9149:Ceacam1
|
UTSW |
7 |
25,173,360 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9529:Ceacam1
|
UTSW |
7 |
25,171,231 (GRCm39) |
missense |
possibly damaging |
0.92 |
X0028:Ceacam1
|
UTSW |
7 |
25,175,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCATCAAGGATTGACAGTGCTG -3'
(R):5'- AAGTCACCATTGAGGCTGTG -3'
Sequencing Primer
(F):5'- TGTGTGGGAAGCAGGATTAACTCTAC -3'
(R):5'- CAGGTTGCTGAAGACAACAATGTTC -3'
|
Posted On |
2019-06-07 |