Incidental Mutation 'R0656:Cgn'
| ID |
62542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cgn
|
| Ensembl Gene |
ENSMUSG00000068876 |
| Gene Name |
cingulin |
| Synonyms |
6330408J11Rik |
| MMRRC Submission |
038841-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0656 (G1)
|
| Quality Score |
97 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94667376-94693826 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 94682204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
| 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
|
| SMART Domains |
Protein: ENSMUSP00000143156
Gene: ENSMUSG00000068876
| 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
|
| SMART Domains |
Protein: ENSMUSP00000142809
Gene: ENSMUSG00000068876
| 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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.2%
|
| Validation Efficiency |
98% (92/94) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
T |
A |
10: 70,704,630 (GRCm39) |
|
noncoding transcript |
Het |
| Alox5 |
A |
G |
6: 116,400,291 (GRCm39) |
|
probably benign |
Het |
| Anxa11 |
T |
A |
14: 25,874,421 (GRCm39) |
D203E |
probably damaging |
Het |
| Atp12a |
A |
T |
14: 56,611,938 (GRCm39) |
N371Y |
probably damaging |
Het |
| Bloc1s6 |
A |
G |
2: 122,584,543 (GRCm39) |
I39M |
probably benign |
Het |
| Celsr3 |
A |
C |
9: 108,711,854 (GRCm39) |
I1688L |
possibly damaging |
Het |
| Chd4 |
A |
T |
6: 125,079,930 (GRCm39) |
I453F |
probably damaging |
Het |
| Dbnl |
A |
G |
11: 5,747,321 (GRCm39) |
T247A |
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,571,136 (GRCm39) |
E46G |
possibly damaging |
Het |
| Dsg1a |
T |
C |
18: 20,468,949 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
C |
T |
13: 63,019,099 (GRCm39) |
E150K |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,927,352 (GRCm38) |
L1854Q |
probably damaging |
Het |
| Gcn1 |
C |
T |
5: 115,727,362 (GRCm39) |
T714M |
probably benign |
Het |
| Gm12216 |
A |
T |
11: 53,704,162 (GRCm39) |
|
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Hmbs |
T |
A |
9: 44,248,657 (GRCm39) |
H256L |
probably benign |
Het |
| Ibsp |
A |
T |
5: 104,457,886 (GRCm39) |
|
probably null |
Het |
| Ints13 |
A |
G |
6: 146,453,959 (GRCm39) |
V240A |
probably benign |
Het |
| Iqca1l |
C |
T |
5: 24,754,760 (GRCm39) |
V337M |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 33,852,837 (GRCm39) |
D343G |
probably damaging |
Het |
| Kin |
T |
C |
2: 10,090,531 (GRCm39) |
|
probably benign |
Het |
| Klhdc1 |
T |
C |
12: 69,304,804 (GRCm39) |
V192A |
probably benign |
Het |
| Lpar3 |
T |
A |
3: 145,946,426 (GRCm39) |
C35S |
possibly damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,998,953 (GRCm39) |
I122V |
possibly damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,452 (GRCm39) |
M222T |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,570,488 (GRCm39) |
S516Y |
possibly damaging |
Het |
| Myo1e |
A |
T |
9: 70,274,956 (GRCm39) |
Q703L |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,115,570 (GRCm39) |
|
probably benign |
Het |
| Necab3 |
T |
G |
2: 154,388,223 (GRCm39) |
E239A |
probably null |
Het |
| Npr1 |
G |
T |
3: 90,368,676 (GRCm39) |
N461K |
probably benign |
Het |
| Or4k44 |
T |
C |
2: 111,367,972 (GRCm39) |
I221V |
probably damaging |
Het |
| Pcdhb2 |
A |
G |
18: 37,428,543 (GRCm39) |
Y172C |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,474,954 (GRCm39) |
D30G |
probably benign |
Het |
| Phf12 |
A |
C |
11: 77,920,158 (GRCm39) |
Q898P |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,309,821 (GRCm39) |
E132G |
possibly damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,270,075 (GRCm39) |
V29A |
probably benign |
Het |
| Rundc3b |
T |
A |
5: 8,619,529 (GRCm39) |
I143F |
probably damaging |
Het |
| Ryr3 |
T |
G |
2: 112,478,651 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,626,901 (GRCm39) |
|
probably null |
Het |
| Slc4a2 |
A |
G |
5: 24,636,257 (GRCm39) |
D201G |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,150,871 (GRCm39) |
|
probably null |
Het |
| Timm21 |
T |
C |
18: 84,967,326 (GRCm39) |
H150R |
probably damaging |
Het |
| Tmem79 |
T |
C |
3: 88,240,241 (GRCm39) |
T236A |
probably damaging |
Het |
| Usp34 |
G |
T |
11: 23,422,967 (GRCm39) |
V3095F |
probably damaging |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,573 (GRCm39) |
Q208L |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAGAATGGACAACTTAGCCAAG -3'
(R):5'- GCGGTAGATGTGTAACTGCCTGAC -3'
Sequencing Primer
(F):5'- TCTAAGCTGCCCATAGAATAAAGG -3'
(R):5'- GTGTAACTGCCTGACACAGTATC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation