Incidental Mutation 'R6146:Cgn'
ID |
488867 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cgn
|
Ensembl Gene |
ENSMUSG00000068876 |
Gene Name |
cingulin |
Synonyms |
6330408J11Rik |
MMRRC Submission |
044293-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6146 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94667376-94693826 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 94674435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 901
(Q901K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102894
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107272]
[ENSMUST00000107273]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107272
AA Change: Q893K
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102893 Gene: ENSMUSG00000068876 AA Change: Q893K
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
low complexity region
|
189 |
198 |
N/A |
INTRINSIC |
internal_repeat_1
|
214 |
229 |
8.06e-5 |
PROSPERO |
low complexity region
|
242 |
260 |
N/A |
INTRINSIC |
internal_repeat_1
|
287 |
302 |
8.06e-5 |
PROSPERO |
low complexity region
|
446 |
462 |
N/A |
INTRINSIC |
low complexity region
|
466 |
481 |
N/A |
INTRINSIC |
low complexity region
|
536 |
549 |
N/A |
INTRINSIC |
low complexity region
|
567 |
592 |
N/A |
INTRINSIC |
low complexity region
|
660 |
676 |
N/A |
INTRINSIC |
low complexity region
|
758 |
775 |
N/A |
INTRINSIC |
Pfam:Myosin_tail_1
|
783 |
1140 |
3.4e-31 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107273
AA Change: Q901K
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102894 Gene: ENSMUSG00000068876 AA Change: Q901K
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
low complexity region
|
189 |
198 |
N/A |
INTRINSIC |
internal_repeat_1
|
214 |
229 |
8.83e-5 |
PROSPERO |
low complexity region
|
242 |
260 |
N/A |
INTRINSIC |
internal_repeat_1
|
287 |
302 |
8.83e-5 |
PROSPERO |
low complexity region
|
454 |
470 |
N/A |
INTRINSIC |
low complexity region
|
474 |
489 |
N/A |
INTRINSIC |
low complexity region
|
544 |
557 |
N/A |
INTRINSIC |
low complexity region
|
575 |
600 |
N/A |
INTRINSIC |
low complexity region
|
668 |
684 |
N/A |
INTRINSIC |
low complexity region
|
766 |
783 |
N/A |
INTRINSIC |
Pfam:Myosin_tail_1
|
799 |
1144 |
2.2e-37 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to the ulcerogenic action of cysteamine. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
G |
5: 8,946,587 (GRCm39) |
E29G |
probably benign |
Het |
Abi3bp |
T |
C |
16: 56,491,628 (GRCm39) |
S552P |
probably damaging |
Het |
Adgrg7 |
A |
G |
16: 56,593,829 (GRCm39) |
I129T |
probably benign |
Het |
Adhfe1 |
A |
G |
1: 9,623,943 (GRCm39) |
N148S |
probably damaging |
Het |
AI182371 |
A |
G |
2: 34,987,983 (GRCm39) |
Y77H |
probably damaging |
Het |
Aldh5a1 |
C |
T |
13: 25,103,661 (GRCm39) |
|
probably null |
Het |
Ankrd2 |
A |
G |
19: 42,028,544 (GRCm39) |
T67A |
possibly damaging |
Het |
Anln |
A |
T |
9: 22,287,604 (GRCm39) |
C232* |
probably null |
Het |
Cchcr1 |
A |
G |
17: 35,839,475 (GRCm39) |
D587G |
possibly damaging |
Het |
Cip2a |
A |
T |
16: 48,814,692 (GRCm39) |
K18* |
probably null |
Het |
Cluh |
G |
T |
11: 74,558,054 (GRCm39) |
|
probably null |
Het |
Crebbp |
G |
A |
16: 3,902,487 (GRCm39) |
Q2213* |
probably null |
Het |
Cyp2d22 |
T |
A |
15: 82,258,036 (GRCm39) |
|
probably null |
Het |
Dcdc2a |
T |
C |
13: 25,389,440 (GRCm39) |
V456A |
probably benign |
Het |
Depdc5 |
A |
G |
5: 33,126,075 (GRCm39) |
E569G |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,459,331 (GRCm39) |
F4517L |
probably benign |
Het |
Doc2b |
T |
C |
11: 75,664,421 (GRCm39) |
K317E |
probably damaging |
Het |
Dysf |
T |
A |
6: 84,180,181 (GRCm39) |
D1951E |
probably damaging |
Het |
Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
F2rl2 |
A |
C |
13: 95,837,149 (GRCm39) |
I65L |
probably benign |
Het |
Fbxw17 |
A |
G |
13: 50,586,548 (GRCm39) |
K417E |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Fxr2 |
A |
G |
11: 69,532,165 (GRCm39) |
M96V |
possibly damaging |
Het |
Kcnj10 |
C |
A |
1: 172,196,892 (GRCm39) |
Y135* |
probably null |
Het |
Kidins220 |
G |
A |
12: 25,102,812 (GRCm39) |
R1238Q |
probably damaging |
Het |
Krt31 |
T |
C |
11: 99,939,056 (GRCm39) |
N255S |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,341,345 (GRCm39) |
D945G |
probably benign |
Het |
Lrrc66 |
T |
C |
5: 73,765,432 (GRCm39) |
D537G |
probably benign |
Het |
Ltbp4 |
T |
A |
7: 27,019,149 (GRCm39) |
I992F |
probably damaging |
Het |
Lzts1 |
A |
G |
8: 69,593,524 (GRCm39) |
S28P |
probably benign |
Het |
Mrc2 |
C |
A |
11: 105,216,470 (GRCm39) |
N86K |
probably damaging |
Het |
Mroh6 |
C |
A |
15: 75,758,486 (GRCm39) |
A302S |
possibly damaging |
Het |
Muc16 |
T |
A |
9: 18,409,093 (GRCm39) |
N198Y |
probably damaging |
Het |
Myo9a |
T |
C |
9: 59,778,512 (GRCm39) |
S1423P |
probably benign |
Het |
Or10ag58 |
A |
T |
2: 87,265,662 (GRCm39) |
D277V |
possibly damaging |
Het |
Or2b28 |
A |
T |
13: 21,531,164 (GRCm39) |
Y22F |
possibly damaging |
Het |
Or5h22 |
A |
G |
16: 58,895,077 (GRCm39) |
V122A |
probably benign |
Het |
Or5p56 |
G |
T |
7: 107,589,620 (GRCm39) |
G16V |
probably damaging |
Het |
Or5w17 |
A |
C |
2: 87,583,602 (GRCm39) |
L245R |
probably damaging |
Het |
Or9g4 |
T |
A |
2: 85,504,938 (GRCm39) |
K186* |
probably null |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Polg |
T |
C |
7: 79,100,260 (GRCm39) |
M1184V |
probably benign |
Het |
Prl8a8 |
T |
C |
13: 27,694,463 (GRCm39) |
Y108C |
probably damaging |
Het |
Proser1 |
T |
A |
3: 53,385,540 (GRCm39) |
I474N |
probably damaging |
Het |
Rab44 |
A |
G |
17: 29,354,391 (GRCm39) |
|
probably benign |
Het |
Rbp1 |
C |
A |
9: 98,307,669 (GRCm39) |
D79E |
possibly damaging |
Het |
Rnf213 |
T |
C |
11: 119,326,825 (GRCm39) |
V1605A |
probably benign |
Het |
Rps24 |
A |
T |
14: 24,540,803 (GRCm39) |
|
probably null |
Het |
Setd5 |
T |
C |
6: 113,098,773 (GRCm39) |
|
probably null |
Het |
Skic3 |
A |
G |
13: 76,333,359 (GRCm39) |
E1536G |
probably damaging |
Het |
Slc38a3 |
T |
C |
9: 107,532,228 (GRCm39) |
I435V |
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,180,534 (GRCm39) |
M623L |
probably benign |
Het |
Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
Spn |
A |
G |
7: 126,735,479 (GRCm39) |
S343P |
possibly damaging |
Het |
Sptan1 |
A |
G |
2: 29,894,535 (GRCm39) |
T1168A |
probably benign |
Het |
Sptbn4 |
A |
T |
7: 27,064,012 (GRCm39) |
L2138* |
probably null |
Het |
Tg |
T |
A |
15: 66,545,216 (GRCm39) |
|
probably null |
Het |
Tigd5 |
T |
A |
15: 75,782,094 (GRCm39) |
L152Q |
probably damaging |
Het |
Tmem163 |
C |
T |
1: 127,447,126 (GRCm39) |
V170I |
probably benign |
Het |
Tpr |
T |
C |
1: 150,298,913 (GRCm39) |
C1068R |
possibly damaging |
Het |
Ubr1 |
A |
T |
2: 120,723,690 (GRCm39) |
Y1290N |
probably damaging |
Het |
Vmn1r184 |
T |
A |
7: 25,966,817 (GRCm39) |
F188I |
probably benign |
Het |
Vmn2r100 |
G |
A |
17: 19,742,522 (GRCm39) |
V299I |
probably benign |
Het |
Vmn2r91 |
T |
G |
17: 18,356,518 (GRCm39) |
H728Q |
probably benign |
Het |
Vta1 |
T |
C |
10: 14,581,096 (GRCm39) |
Y37C |
probably damaging |
Het |
Wbp2 |
C |
A |
11: 115,974,728 (GRCm39) |
M35I |
probably benign |
Het |
Zcchc9 |
G |
A |
13: 91,953,986 (GRCm39) |
Q90* |
probably null |
Het |
|
Other mutations in Cgn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00228:Cgn
|
APN |
3 |
94,672,855 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00823:Cgn
|
APN |
3 |
94,674,519 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01349:Cgn
|
APN |
3 |
94,674,486 (GRCm39) |
nonsense |
probably null |
|
IGL01433:Cgn
|
APN |
3 |
94,686,769 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01467:Cgn
|
APN |
3 |
94,686,898 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01781:Cgn
|
APN |
3 |
94,680,515 (GRCm39) |
missense |
probably benign |
|
IGL01789:Cgn
|
APN |
3 |
94,683,528 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01879:Cgn
|
APN |
3 |
94,681,674 (GRCm39) |
nonsense |
probably null |
|
IGL02805:Cgn
|
APN |
3 |
94,681,687 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02814:Cgn
|
APN |
3 |
94,681,550 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02926:Cgn
|
APN |
3 |
94,685,326 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03113:Cgn
|
APN |
3 |
94,686,544 (GRCm39) |
missense |
probably benign |
|
IGL03340:Cgn
|
APN |
3 |
94,685,405 (GRCm39) |
intron |
probably benign |
|
R0054:Cgn
|
UTSW |
3 |
94,669,899 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0310:Cgn
|
UTSW |
3 |
94,672,960 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0355:Cgn
|
UTSW |
3 |
94,682,242 (GRCm39) |
missense |
probably benign |
|
R0615:Cgn
|
UTSW |
3 |
94,678,024 (GRCm39) |
unclassified |
probably benign |
|
R0656:Cgn
|
UTSW |
3 |
94,682,204 (GRCm39) |
unclassified |
probably benign |
|
R1491:Cgn
|
UTSW |
3 |
94,670,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R1509:Cgn
|
UTSW |
3 |
94,681,568 (GRCm39) |
missense |
probably benign |
0.00 |
R1794:Cgn
|
UTSW |
3 |
94,669,864 (GRCm39) |
critical splice donor site |
probably null |
|
R2113:Cgn
|
UTSW |
3 |
94,687,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R3121:Cgn
|
UTSW |
3 |
94,685,792 (GRCm39) |
splice site |
probably benign |
|
R4655:Cgn
|
UTSW |
3 |
94,686,559 (GRCm39) |
nonsense |
probably null |
|
R4703:Cgn
|
UTSW |
3 |
94,683,405 (GRCm39) |
utr 3 prime |
probably benign |
|
R4714:Cgn
|
UTSW |
3 |
94,686,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R4715:Cgn
|
UTSW |
3 |
94,686,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R4959:Cgn
|
UTSW |
3 |
94,685,564 (GRCm39) |
missense |
probably benign |
0.06 |
R4973:Cgn
|
UTSW |
3 |
94,685,564 (GRCm39) |
missense |
probably benign |
0.06 |
R4995:Cgn
|
UTSW |
3 |
94,687,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R5011:Cgn
|
UTSW |
3 |
94,683,455 (GRCm39) |
missense |
probably null |
1.00 |
R5329:Cgn
|
UTSW |
3 |
94,687,300 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
R5524:Cgn
|
UTSW |
3 |
94,687,299 (GRCm39) |
start codon destroyed |
probably null |
0.56 |
R5695:Cgn
|
UTSW |
3 |
94,680,945 (GRCm39) |
missense |
probably benign |
0.00 |
R5839:Cgn
|
UTSW |
3 |
94,681,703 (GRCm39) |
missense |
probably damaging |
0.99 |
R5987:Cgn
|
UTSW |
3 |
94,686,832 (GRCm39) |
missense |
probably benign |
0.00 |
R6311:Cgn
|
UTSW |
3 |
94,685,486 (GRCm39) |
intron |
probably benign |
|
R6948:Cgn
|
UTSW |
3 |
94,680,531 (GRCm39) |
missense |
probably benign |
0.06 |
R7038:Cgn
|
UTSW |
3 |
94,670,392 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7231:Cgn
|
UTSW |
3 |
94,680,502 (GRCm39) |
missense |
probably damaging |
0.99 |
R7251:Cgn
|
UTSW |
3 |
94,683,509 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7408:Cgn
|
UTSW |
3 |
94,670,362 (GRCm39) |
nonsense |
probably null |
|
R7828:Cgn
|
UTSW |
3 |
94,676,489 (GRCm39) |
missense |
probably damaging |
0.97 |
R7882:Cgn
|
UTSW |
3 |
94,669,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R7975:Cgn
|
UTSW |
3 |
94,671,836 (GRCm39) |
missense |
probably benign |
0.03 |
R8082:Cgn
|
UTSW |
3 |
94,670,368 (GRCm39) |
missense |
probably benign |
0.21 |
R8090:Cgn
|
UTSW |
3 |
94,687,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R8128:Cgn
|
UTSW |
3 |
94,676,691 (GRCm39) |
missense |
probably benign |
0.06 |
R8275:Cgn
|
UTSW |
3 |
94,682,263 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8774:Cgn
|
UTSW |
3 |
94,680,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R8774-TAIL:Cgn
|
UTSW |
3 |
94,680,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R9036:Cgn
|
UTSW |
3 |
94,674,551 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9060:Cgn
|
UTSW |
3 |
94,687,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R9434:Cgn
|
UTSW |
3 |
94,672,837 (GRCm39) |
missense |
probably damaging |
0.99 |
R9616:Cgn
|
UTSW |
3 |
94,670,332 (GRCm39) |
missense |
probably damaging |
0.97 |
R9720:Cgn
|
UTSW |
3 |
94,686,621 (GRCm39) |
missense |
probably benign |
0.10 |
Z1176:Cgn
|
UTSW |
3 |
94,683,488 (GRCm39) |
missense |
probably benign |
0.16 |
Z1176:Cgn
|
UTSW |
3 |
94,681,656 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cgn
|
UTSW |
3 |
94,681,583 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTCTAGAGAGGGATGCTG -3'
(R):5'- GACAGAAACCTTTTCCCTCTGC -3'
Sequencing Primer
(F):5'- CTCTAGAGAGGGATGCTGCTC -3'
(R):5'- CCCTCTGCGTTTTAGCTGGAG -3'
|
Posted On |
2017-10-10 |