Incidental Mutation 'R5524:Cgn'
| ID |
431732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cgn
|
| Ensembl Gene |
ENSMUSG00000068876 |
| Gene Name |
cingulin |
| Synonyms |
6330408J11Rik |
| MMRRC Submission |
043082-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5524 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94667376-94693826 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to C
at 94687299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 1
(M1R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102893
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107272]
[ENSMUST00000107273]
[ENSMUST00000153263]
[ENSMUST00000155485]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000107272
AA Change: M1R
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: M1R
| 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 null
Transcript: ENSMUST00000107273
AA Change: M1R
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: M1R
| 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 null
Transcript: ENSMUST00000153263
AA Change: M1R
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000143156
Gene: ENSMUSG00000068876
AA Change: M1R
| 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 null
Transcript: ENSMUST00000155485
AA Change: M1R
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000142809
Gene: ENSMUSG00000068876
AA Change: M1R
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
| Validation Efficiency |
100% (76/76) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010L04Rik |
T |
A |
7: 82,503,150 (GRCm39) |
|
noncoding transcript |
Het |
| 6030469F06Rik |
A |
G |
12: 31,234,862 (GRCm39) |
|
noncoding transcript |
Het |
| A830031A19Rik |
T |
A |
11: 24,008,776 (GRCm39) |
I13F |
unknown |
Het |
| Acsbg2 |
A |
C |
17: 57,157,197 (GRCm39) |
L309R |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,412,328 (GRCm39) |
M76K |
probably damaging |
Het |
| Adamts14 |
C |
A |
10: 61,066,222 (GRCm39) |
R297L |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
| Asb14 |
A |
G |
14: 26,622,408 (GRCm39) |
K80E |
possibly damaging |
Het |
| Baiap2l1 |
T |
C |
5: 144,217,759 (GRCm39) |
T276A |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,764,086 (GRCm39) |
P2127S |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,693,527 (GRCm39) |
T403A |
probably benign |
Het |
| Chd5 |
T |
G |
4: 152,461,087 (GRCm39) |
S1226A |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,894,558 (GRCm39) |
V1497A |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,688,727 (GRCm39) |
Y848* |
probably null |
Het |
| Cyp2a12 |
T |
C |
7: 26,730,656 (GRCm39) |
V207A |
probably benign |
Het |
| Cyth1 |
G |
A |
11: 118,073,593 (GRCm39) |
R247W |
probably benign |
Het |
| Derl3 |
T |
C |
10: 75,730,324 (GRCm39) |
V129A |
possibly damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Eml1 |
A |
T |
12: 108,487,635 (GRCm39) |
I518L |
probably damaging |
Het |
| Eri1 |
A |
G |
8: 35,945,763 (GRCm39) |
V174A |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,431,053 (GRCm39) |
I435F |
probably damaging |
Het |
| Foxd1 |
T |
G |
13: 98,492,412 (GRCm39) |
S429A |
unknown |
Het |
| Ftcd |
T |
A |
10: 76,425,165 (GRCm39) |
|
probably benign |
Het |
| Gm5478 |
G |
T |
15: 101,553,102 (GRCm39) |
N323K |
probably benign |
Het |
| Gnpda1 |
G |
T |
18: 38,468,161 (GRCm39) |
P45Q |
probably damaging |
Het |
| Kif20a |
G |
T |
18: 34,763,678 (GRCm39) |
|
probably null |
Het |
| Klrb1 |
T |
C |
6: 128,689,296 (GRCm39) |
|
probably null |
Het |
| Lcorl |
C |
A |
5: 45,932,864 (GRCm39) |
|
probably null |
Het |
| Lcorl |
T |
A |
5: 45,932,865 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,000,900 (GRCm39) |
K2108M |
probably damaging |
Het |
| Lyst |
C |
T |
13: 13,921,364 (GRCm39) |
P3437S |
probably benign |
Het |
| Macrod2 |
A |
T |
2: 142,159,863 (GRCm39) |
M349L |
possibly damaging |
Het |
| Marchf7 |
T |
C |
2: 60,075,647 (GRCm39) |
|
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,424,786 (GRCm39) |
C601* |
probably null |
Het |
| Muc19 |
G |
T |
15: 91,778,587 (GRCm39) |
|
noncoding transcript |
Het |
| Mycbp2 |
T |
C |
14: 103,532,673 (GRCm39) |
D427G |
probably damaging |
Het |
| Nap1l5 |
C |
A |
6: 58,883,763 (GRCm39) |
V64L |
possibly damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Npas3 |
T |
C |
12: 54,115,721 (GRCm39) |
V863A |
possibly damaging |
Het |
| Nr2c2 |
T |
A |
6: 92,116,746 (GRCm39) |
|
probably null |
Het |
| Oosp3 |
T |
C |
19: 11,682,794 (GRCm39) |
F56S |
possibly damaging |
Het |
| Or1a1b |
A |
T |
11: 74,097,409 (GRCm39) |
L211Q |
probably damaging |
Het |
| Or5k17 |
C |
T |
16: 58,746,172 (GRCm39) |
C254Y |
probably benign |
Het |
| Or8g20 |
C |
T |
9: 39,396,283 (GRCm39) |
V89M |
probably damaging |
Het |
| Plgrkt |
G |
A |
19: 29,327,850 (GRCm39) |
P78S |
probably damaging |
Het |
| Prss36 |
G |
A |
7: 127,533,637 (GRCm39) |
Q56* |
probably null |
Het |
| Ptprz1 |
A |
G |
6: 22,986,317 (GRCm39) |
|
probably null |
Het |
| Qsox2 |
A |
T |
2: 26,107,699 (GRCm39) |
F265I |
probably damaging |
Het |
| R3hcc1l |
G |
T |
19: 42,552,307 (GRCm39) |
E435* |
probably null |
Het |
| Shbg |
T |
C |
11: 69,507,588 (GRCm39) |
D163G |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,837,546 (GRCm39) |
L108H |
probably damaging |
Het |
| Smtnl1 |
T |
A |
2: 84,649,238 (GRCm39) |
E5D |
probably benign |
Het |
| Spock1 |
C |
T |
13: 57,704,608 (GRCm39) |
G120D |
probably damaging |
Het |
| Stk11ip |
G |
T |
1: 75,508,971 (GRCm39) |
C700F |
probably damaging |
Het |
| Sult4a1 |
C |
T |
15: 83,974,159 (GRCm39) |
|
probably null |
Het |
| Syngap1 |
A |
G |
17: 27,176,126 (GRCm39) |
H138R |
probably damaging |
Het |
| Tdrd7 |
A |
G |
4: 46,034,301 (GRCm39) |
K1016E |
probably benign |
Het |
| Tmem167b |
T |
C |
3: 108,467,569 (GRCm39) |
K26E |
possibly damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,883,943 (GRCm39) |
S146P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,607,060 (GRCm39) |
V16242I |
possibly damaging |
Het |
| Vmn2r-ps3 |
T |
A |
3: 63,960,870 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13c |
T |
C |
9: 67,864,838 (GRCm39) |
F3049S |
probably damaging |
Het |
| Vstm2l |
T |
C |
2: 157,777,355 (GRCm39) |
W78R |
probably damaging |
Het |
| Wbp1l |
C |
A |
19: 46,642,695 (GRCm39) |
A216D |
possibly damaging |
Het |
| Zer1 |
C |
G |
2: 29,994,866 (GRCm39) |
V510L |
probably damaging |
Het |
| Zfp28 |
A |
T |
7: 6,397,850 (GRCm39) |
|
probably null |
Het |
| Zfp352 |
C |
A |
4: 90,113,341 (GRCm39) |
P494T |
possibly damaging |
Het |
| Zfp353-ps |
A |
G |
8: 42,535,600 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp563 |
A |
T |
17: 33,321,515 (GRCm39) |
|
probably null |
Het |
| Zim1 |
T |
C |
7: 6,680,320 (GRCm39) |
N448D |
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 |
|
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'- TCTCTCCACTGTTAAGAACCAC -3'
(R):5'- GGTGTGGGCCTCAAAGTATG -3'
Sequencing Primer
(F):5'- TCCACTGTTAAGAACCACAAACGG -3'
(R):5'- TTGTACACACTAGGCAAGCTGTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation