Incidental Mutation 'R9434:Cgn'
| ID |
713159 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cgn
|
| Ensembl Gene |
ENSMUSG00000068876 |
| Gene Name |
cingulin |
| Synonyms |
6330408J11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9434 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94667376-94693826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94672837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 947
(D947G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107272]
[ENSMUST00000107273]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107272
AA Change: D939G
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: D939G
| 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 damaging
Transcript: ENSMUST00000107273
AA Change: D947G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: D947G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (49/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
G |
8: 41,133,284 (GRCm39) |
I251V |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,666,292 (GRCm39) |
|
probably benign |
Het |
| Adipoq |
A |
G |
16: 22,965,697 (GRCm39) |
|
probably benign |
Het |
| Adnp |
C |
T |
2: 168,026,377 (GRCm39) |
R306Q |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,829 (GRCm39) |
N1519K |
|
Het |
| Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
| Cdc14a |
T |
C |
3: 116,217,092 (GRCm39) |
M15V |
probably benign |
Het |
| Crhr2 |
A |
T |
6: 55,069,512 (GRCm39) |
F381I |
probably damaging |
Het |
| Dmxl1 |
G |
T |
18: 50,010,788 (GRCm39) |
A982S |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,899,863 (GRCm39) |
V4375A |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,479,227 (GRCm39) |
E259G |
possibly damaging |
Het |
| Erbb4 |
T |
C |
1: 68,081,773 (GRCm39) |
D1087G |
possibly damaging |
Het |
| Fcgr2b |
A |
T |
1: 170,793,385 (GRCm39) |
S215T |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,816,702 (GRCm39) |
Y4145F |
possibly damaging |
Het |
| Fyb2 |
C |
T |
4: 104,847,534 (GRCm39) |
T518M |
probably damaging |
Het |
| Galk1 |
C |
T |
11: 115,903,494 (GRCm39) |
W4* |
probably null |
Het |
| Gmds |
C |
A |
13: 32,284,369 (GRCm39) |
D248Y |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,853,846 (GRCm39) |
F631I |
probably benign |
Het |
| Hhla1 |
T |
C |
15: 65,839,226 (GRCm39) |
K55E |
possibly damaging |
Het |
| Il17rb |
T |
C |
14: 29,728,054 (GRCm39) |
E51G |
probably damaging |
Het |
| Ildr1 |
T |
A |
16: 36,529,862 (GRCm39) |
L83Q |
probably damaging |
Het |
| Ints9 |
A |
G |
14: 65,245,506 (GRCm39) |
I255V |
probably benign |
Het |
| Itga9 |
G |
T |
9: 118,636,315 (GRCm39) |
D668Y |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Klhl35 |
A |
G |
7: 99,119,547 (GRCm39) |
Y344C |
probably damaging |
Het |
| Klra4 |
A |
G |
6: 130,040,083 (GRCm39) |
V63A |
possibly damaging |
Het |
| Lgr4 |
A |
G |
2: 109,836,907 (GRCm39) |
T414A |
probably benign |
Het |
| Lmbrd2 |
C |
T |
15: 9,157,314 (GRCm39) |
T184M |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,381,689 (GRCm39) |
D3795G |
possibly damaging |
Het |
| N6amt1 |
T |
A |
16: 87,159,421 (GRCm39) |
L109Q |
possibly damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,365,755 (GRCm39) |
C215R |
probably benign |
Het |
| Ngef |
G |
A |
1: 87,408,315 (GRCm39) |
S584F |
possibly damaging |
Het |
| Notch4 |
T |
C |
17: 34,801,673 (GRCm39) |
C1174R |
probably damaging |
Het |
| Opa1 |
T |
C |
16: 29,404,874 (GRCm39) |
I24T |
probably benign |
Het |
| Or10v1 |
A |
C |
19: 11,873,393 (GRCm39) |
I3L |
probably benign |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,662 (GRCm39) |
I49F |
probably damaging |
Het |
| Or1o4 |
T |
C |
17: 37,591,254 (GRCm39) |
E19G |
probably benign |
Het |
| Or4a15 |
A |
G |
2: 89,193,692 (GRCm39) |
V27A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,542,512 (GRCm39) |
V1223A |
probably benign |
Het |
| Phf14 |
A |
G |
6: 11,933,492 (GRCm39) |
K118R |
unknown |
Het |
| Plcd1 |
A |
T |
9: 118,905,231 (GRCm39) |
M186K |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Sumf1 |
A |
T |
6: 108,130,096 (GRCm39) |
C233S |
possibly damaging |
Het |
| Tbc1d12 |
A |
G |
19: 38,902,461 (GRCm39) |
K540R |
probably benign |
Het |
| Tmem150c |
T |
C |
5: 100,240,643 (GRCm39) |
N73S |
probably damaging |
Het |
| Tpra1 |
T |
C |
6: 88,888,774 (GRCm39) |
S319P |
probably benign |
Het |
| Ttk |
C |
A |
9: 83,750,143 (GRCm39) |
Y699* |
probably null |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,790 (GRCm39) |
L143* |
probably null |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,745 (GRCm39) |
V825A |
possibly damaging |
Het |
| Zpld2 |
T |
G |
4: 133,929,553 (GRCm39) |
T251P |
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 |
|
|
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 |
|
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'- AAAACCATCAGTTGTGGCTTC -3'
(R):5'- TGGCTCTAAAGAGTGTCAGTAGTG -3'
Sequencing Primer
(F):5'- CATCAGTTGTGGCTTCTCGATTTTG -3'
(R):5'- AGTAGTGAAGTATTTCTCCCCTCGG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation