Incidental Mutation 'IGL02926:Cgn'
ID |
363856 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cgn
|
Ensembl Gene |
ENSMUSG00000068876 |
Gene Name |
cingulin |
Synonyms |
6330408J11Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02926
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
94667376-94693826 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94685326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 399
(K399R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142809
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107272]
[ENSMUST00000107273]
[ENSMUST00000153263]
[ENSMUST00000155485]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107272
AA Change: K354R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102893 Gene: ENSMUSG00000068876 AA Change: K354R
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 |
probably benign
Transcript: ENSMUST00000107273
AA Change: K362R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102894 Gene: ENSMUSG00000068876 AA Change: K362R
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153263
AA Change: K354R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000143156 Gene: ENSMUSG00000068876 AA Change: K354R
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
low complexity region
|
189 |
198 |
N/A |
INTRINSIC |
low complexity region
|
242 |
260 |
N/A |
INTRINSIC |
coiled coil region
|
337 |
402 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155485
AA Change: K399R
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000142809 Gene: ENSMUSG00000068876 AA Change: K399R
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
low complexity region
|
189 |
198 |
N/A |
INTRINSIC |
low complexity region
|
242 |
260 |
N/A |
INTRINSIC |
low complexity region
|
340 |
357 |
N/A |
INTRINSIC |
coiled coil region
|
381 |
447 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
A |
T |
6: 85,618,432 (GRCm39) |
D2826V |
probably damaging |
Het |
Alpl |
C |
T |
4: 137,469,945 (GRCm39) |
A460T |
probably damaging |
Het |
C2cd5 |
A |
G |
6: 142,976,963 (GRCm39) |
|
probably benign |
Het |
C4b |
C |
T |
17: 34,949,686 (GRCm39) |
R1468Q |
possibly damaging |
Het |
Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
Ciao3 |
A |
G |
17: 26,001,128 (GRCm39) |
H460R |
probably benign |
Het |
Cyp2t4 |
G |
A |
7: 26,857,228 (GRCm39) |
V356M |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,044,604 (GRCm39) |
D683G |
probably damaging |
Het |
Dhcr24 |
T |
A |
4: 106,443,552 (GRCm39) |
I410N |
probably damaging |
Het |
Dmap1 |
T |
A |
4: 117,539,085 (GRCm39) |
E17V |
probably benign |
Het |
Dnaaf9 |
C |
T |
2: 130,554,286 (GRCm39) |
R921K |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,535,109 (GRCm39) |
I2717T |
possibly damaging |
Het |
Epb41l3 |
G |
T |
17: 69,554,741 (GRCm39) |
K280N |
probably damaging |
Het |
Espl1 |
T |
A |
15: 102,208,290 (GRCm39) |
M432K |
probably damaging |
Het |
Fgf5 |
C |
A |
5: 98,409,874 (GRCm39) |
A141E |
probably damaging |
Het |
Fto |
T |
A |
8: 92,211,795 (GRCm39) |
F373L |
probably damaging |
Het |
Gpatch1 |
T |
C |
7: 35,007,694 (GRCm39) |
D122G |
probably damaging |
Het |
Ints11 |
T |
C |
4: 155,972,568 (GRCm39) |
|
probably null |
Het |
Jarid2 |
A |
G |
13: 45,056,405 (GRCm39) |
Q398R |
probably benign |
Het |
Kcnh1 |
A |
G |
1: 191,959,208 (GRCm39) |
D254G |
probably damaging |
Het |
Lamc3 |
C |
T |
2: 31,825,737 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
C |
T |
2: 31,825,738 (GRCm39) |
|
probably benign |
Het |
Ltbp4 |
T |
C |
7: 27,028,297 (GRCm39) |
|
probably null |
Het |
Mcm6 |
A |
G |
1: 128,267,119 (GRCm39) |
Y575H |
probably damaging |
Het |
Myh9 |
A |
C |
15: 77,671,826 (GRCm39) |
Y422D |
probably damaging |
Het |
Or4c35 |
T |
C |
2: 89,808,506 (GRCm39) |
L128P |
probably damaging |
Het |
Or5b105 |
A |
C |
19: 13,080,187 (GRCm39) |
N160K |
possibly damaging |
Het |
Or8b47 |
T |
C |
9: 38,435,021 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
T |
C |
2: 135,206,682 (GRCm39) |
|
probably benign |
Het |
Pmfbp1 |
A |
G |
8: 110,246,881 (GRCm39) |
E251G |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,291,054 (GRCm39) |
V383E |
probably damaging |
Het |
Ptprn |
A |
T |
1: 75,224,517 (GRCm39) |
H946Q |
possibly damaging |
Het |
Rbl1 |
A |
G |
2: 157,009,333 (GRCm39) |
V734A |
probably benign |
Het |
Rspry1 |
T |
A |
8: 95,376,439 (GRCm39) |
N320K |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,760,965 (GRCm39) |
V3219D |
probably damaging |
Het |
Ryr2 |
C |
A |
13: 11,774,721 (GRCm39) |
W1145L |
probably damaging |
Het |
Scel |
A |
T |
14: 103,813,683 (GRCm39) |
R319* |
probably null |
Het |
Stxbp2 |
C |
T |
8: 3,685,629 (GRCm39) |
T226I |
probably benign |
Het |
Tac1 |
A |
T |
6: 7,562,410 (GRCm39) |
N106I |
possibly damaging |
Het |
Trim13 |
G |
T |
14: 61,842,693 (GRCm39) |
|
probably null |
Het |
Tspan31 |
T |
G |
10: 126,904,778 (GRCm39) |
|
probably null |
Het |
Usp36 |
C |
T |
11: 118,155,609 (GRCm39) |
V723M |
probably benign |
Het |
Utrn |
A |
T |
10: 12,566,504 (GRCm39) |
N1219K |
probably damaging |
Het |
Vcan |
G |
T |
13: 89,836,742 (GRCm39) |
T2934K |
probably damaging |
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 |
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 |
R6146:Cgn
|
UTSW |
3 |
94,674,435 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
|
Posted On |
2015-12-18 |