Incidental Mutation 'R7975:Cgn'
| ID |
650826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cgn
|
| Ensembl Gene |
ENSMUSG00000068876 |
| Gene Name |
cingulin |
| Synonyms |
6330408J11Rik |
| MMRRC Submission |
046018-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7975 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
94667376-94693826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 94671836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 965
(A965E)
|
| 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: A957E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000102893
Gene: ENSMUSG00000068876
AA Change: A957E
| 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: A965E
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000102894
Gene: ENSMUSG00000068876
AA Change: A965E
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
100% (53/53) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
T |
C |
10: 88,952,847 (GRCm39) |
I60V |
possibly damaging |
Het |
| Ano5 |
T |
A |
7: 51,216,286 (GRCm39) |
M381K |
probably null |
Het |
| Aox1 |
T |
A |
1: 58,348,187 (GRCm39) |
I635K |
probably benign |
Het |
| Bdp1 |
C |
T |
13: 100,156,884 (GRCm39) |
C2436Y |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,973,620 (GRCm39) |
R2565G |
possibly damaging |
Het |
| Brd2 |
A |
T |
17: 34,334,424 (GRCm39) |
I245N |
probably damaging |
Het |
| Capn9 |
G |
A |
8: 125,325,515 (GRCm39) |
V258M |
probably damaging |
Het |
| Ccar2 |
C |
G |
14: 70,380,918 (GRCm39) |
C324S |
possibly damaging |
Het |
| Cd209b |
A |
T |
8: 3,975,948 (GRCm39) |
I71N |
probably benign |
Het |
| Cdk12 |
A |
T |
11: 98,111,928 (GRCm39) |
I729F |
unknown |
Het |
| Celf1 |
T |
G |
2: 90,831,423 (GRCm39) |
V84G |
probably damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,632,604 (GRCm39) |
E249G |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,455,841 (GRCm39) |
H629R |
|
Het |
| Cyp2j8 |
T |
C |
4: 96,358,776 (GRCm39) |
N381S |
possibly damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,179,169 (GRCm39) |
D343G |
probably damaging |
Het |
| Fhl5 |
T |
A |
4: 25,214,730 (GRCm39) |
I16F |
probably benign |
Het |
| Gatd1 |
A |
G |
7: 140,989,781 (GRCm39) |
F143S |
probably damaging |
Het |
| Gbp10 |
C |
T |
5: 105,368,967 (GRCm39) |
G291R |
probably benign |
Het |
| Gm28168 |
T |
C |
1: 117,875,820 (GRCm39) |
Y150H |
probably benign |
Het |
| Gm3543 |
T |
C |
14: 41,802,122 (GRCm39) |
M121V |
probably benign |
Het |
| Gramd2b |
A |
G |
18: 56,618,451 (GRCm39) |
T220A |
probably benign |
Het |
| Gstcd |
A |
G |
3: 132,777,863 (GRCm39) |
L316P |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,282,532 (GRCm39) |
G3424D |
probably benign |
Het |
| Ifi209 |
C |
T |
1: 173,468,722 (GRCm39) |
S184F |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,286,948 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
G |
A |
3: 105,366,310 (GRCm39) |
R60H |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,098,911 (GRCm39) |
C1400R |
probably damaging |
Het |
| Lama3 |
C |
T |
18: 12,670,796 (GRCm39) |
P794L |
probably damaging |
Het |
| Lgals4 |
A |
G |
7: 28,540,346 (GRCm39) |
I214V |
probably benign |
Het |
| Lipo4 |
A |
T |
19: 33,490,028 (GRCm39) |
L158Q |
probably damaging |
Het |
| Ltv1 |
A |
G |
10: 13,066,453 (GRCm39) |
Y58H |
probably damaging |
Het |
| Mitf |
T |
C |
6: 97,994,990 (GRCm39) |
S479P |
probably benign |
Het |
| Mthfr |
A |
T |
4: 148,127,920 (GRCm39) |
D132V |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,727,666 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
A |
2: 52,050,678 (GRCm39) |
H6660L |
probably benign |
Het |
| Nhlrc3 |
A |
T |
3: 53,360,966 (GRCm39) |
V263E |
probably damaging |
Het |
| Oas1h |
G |
A |
5: 121,009,890 (GRCm39) |
V322M |
probably damaging |
Het |
| Or10a3n |
A |
T |
7: 108,493,019 (GRCm39) |
Y203* |
probably null |
Het |
| Or2m13 |
T |
A |
16: 19,226,301 (GRCm39) |
D155V |
probably damaging |
Het |
| Or4a15 |
C |
T |
2: 89,193,413 (GRCm39) |
R120H |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,212,705 (GRCm39) |
D1121V |
probably damaging |
Het |
| Pax5 |
A |
G |
4: 44,537,465 (GRCm39) |
S352P |
probably damaging |
Het |
| Piezo1 |
C |
A |
8: 123,222,504 (GRCm39) |
R915L |
|
Het |
| R3hcc1 |
T |
C |
14: 69,944,593 (GRCm39) |
D7G |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,458,589 (GRCm39) |
K429E |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,501,286 (GRCm39) |
F166S |
probably benign |
Het |
| Scn9a |
T |
G |
2: 66,314,597 (GRCm39) |
N1707T |
probably damaging |
Het |
| Sec23ip |
T |
C |
7: 128,364,201 (GRCm39) |
F493S |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slfn4 |
A |
T |
11: 83,077,982 (GRCm39) |
I257F |
possibly damaging |
Het |
| Smarcal1 |
T |
A |
1: 72,652,150 (GRCm39) |
D637E |
probably benign |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Sos2 |
A |
T |
12: 69,639,814 (GRCm39) |
F990L |
probably benign |
Het |
| Spata31h1 |
C |
T |
10: 82,119,823 (GRCm39) |
A4396T |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,981,786 (GRCm39) |
T844A |
probably benign |
Het |
| Tph1 |
G |
A |
7: 46,306,678 (GRCm39) |
R145C |
probably damaging |
Het |
| Ubap2l |
G |
A |
3: 89,946,076 (GRCm39) |
|
probably null |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,272 (GRCm39) |
I810V |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,693,199 (GRCm39) |
D467G |
probably damaging |
Het |
| Zfp618 |
T |
A |
4: 63,049,352 (GRCm39) |
N417K |
possibly 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 |
|
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 |
|
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'- TGCCAGAACTGTCCAGGTTATG -3'
(R):5'- ATAGCTTCTAGGGTTTGCCTTC -3'
Sequencing Primer
(F):5'- CAGGTTATGGATCACAGGAGAGC -3'
(R):5'- TTGCCTTCCTGGTCAGCAGAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation