Incidental Mutation 'IGL03113:Cgn'
| ID |
419286 |
| 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 # |
IGL03113
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94667376-94693826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94686544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 253
(F253L)
|
| 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: F253L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: F253L
| 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: F253L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: F253L
| 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: F253L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143156
Gene: ENSMUSG00000068876
AA Change: F253L
| 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: F253L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142809
Gene: ENSMUSG00000068876
AA Change: F253L
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apof |
G |
A |
10: 128,105,568 (GRCm39) |
V241M |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 15,004,505 (GRCm39) |
I91N |
probably damaging |
Het |
| Arhgef17 |
G |
A |
7: 100,578,938 (GRCm39) |
T670I |
probably benign |
Het |
| Barhl1 |
T |
C |
2: 28,805,468 (GRCm39) |
D75G |
probably benign |
Het |
| Capn13 |
T |
C |
17: 73,638,108 (GRCm39) |
T432A |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,640,951 (GRCm39) |
Y691N |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,191,557 (GRCm39) |
V340L |
probably benign |
Het |
| Cdc5l |
A |
T |
17: 45,744,348 (GRCm39) |
M5K |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 16,078,712 (GRCm39) |
K2003R |
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,621,259 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,472,163 (GRCm39) |
N3535D |
possibly damaging |
Het |
| Exoc3 |
G |
A |
13: 74,341,232 (GRCm39) |
Q191* |
probably null |
Het |
| Fstl5 |
T |
A |
3: 76,337,099 (GRCm39) |
Y219* |
probably null |
Het |
| Gad2 |
T |
A |
2: 22,571,367 (GRCm39) |
L435Q |
probably benign |
Het |
| Gcnt3 |
A |
G |
9: 69,941,983 (GRCm39) |
V195A |
probably damaging |
Het |
| Haus6 |
G |
A |
4: 86,501,343 (GRCm39) |
Q843* |
probably null |
Het |
| Hivep2 |
T |
A |
10: 14,006,395 (GRCm39) |
F998I |
probably damaging |
Het |
| Hsf5 |
A |
T |
11: 87,548,190 (GRCm39) |
E624D |
probably benign |
Het |
| Klb |
A |
G |
5: 65,540,813 (GRCm39) |
N969D |
probably benign |
Het |
| Klhl6 |
T |
A |
16: 19,776,001 (GRCm39) |
S186C |
possibly damaging |
Het |
| Klk15 |
T |
C |
7: 43,587,805 (GRCm39) |
F78L |
probably benign |
Het |
| Ldlr |
A |
G |
9: 21,651,124 (GRCm39) |
E514G |
possibly damaging |
Het |
| Map9 |
T |
A |
3: 82,267,285 (GRCm39) |
|
probably benign |
Het |
| Miga2 |
A |
T |
2: 30,274,022 (GRCm39) |
I99F |
possibly damaging |
Het |
| Morc4 |
T |
C |
X: 138,758,605 (GRCm39) |
E189G |
probably benign |
Het |
| Nhlrc3 |
A |
T |
3: 53,365,984 (GRCm39) |
Y170N |
possibly damaging |
Het |
| Or3a1b |
G |
A |
11: 74,012,529 (GRCm39) |
R138Q |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,379 (GRCm39) |
F10L |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,309,851 (GRCm39) |
V202D |
possibly damaging |
Het |
| Or52u1 |
A |
T |
7: 104,237,940 (GRCm39) |
R310W |
probably benign |
Het |
| Or5o1 |
T |
A |
X: 48,815,939 (GRCm39) |
N291Y |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,506 (GRCm39) |
Q54R |
probably benign |
Het |
| Or8g32 |
A |
C |
9: 39,305,981 (GRCm39) |
K295T |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,784,793 (GRCm39) |
T1997I |
probably benign |
Het |
| Poln |
A |
G |
5: 34,274,206 (GRCm39) |
S377P |
probably benign |
Het |
| Rab22a |
T |
A |
2: 173,503,265 (GRCm39) |
V26E |
probably damaging |
Het |
| Rhbdl3 |
T |
C |
11: 80,244,439 (GRCm39) |
V382A |
possibly damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,957,723 (GRCm39) |
Q350K |
probably benign |
Het |
| Sult1d1 |
A |
T |
5: 87,707,738 (GRCm39) |
Y127* |
probably null |
Het |
| Vmn1r73 |
A |
T |
7: 11,490,527 (GRCm39) |
Y115F |
probably benign |
Het |
| Zfp128 |
T |
A |
7: 12,624,314 (GRCm39) |
D227E |
probably benign |
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 |
|
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 |
2016-08-02 |
Incidental Mutation