Incidental Mutation 'R1076:Cnn1'
| ID |
85654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnn1
|
| Ensembl Gene |
ENSMUSG00000001349 |
| Gene Name |
calponin 1 |
| Synonyms |
CnnI, calponin h1, CN |
| MMRRC Submission |
039162-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1076 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
22010501-22020517 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 22019165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 157
(Q157L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001384]
[ENSMUST00000213607]
[ENSMUST00000214601]
[ENSMUST00000216872]
|
| AlphaFold |
Q08091 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001384
AA Change: Q207L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001384
Gene: ENSMUSG00000001349
AA Change: Q207L
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
30 |
127 |
2.69e-25 |
SMART |
|
low complexity region
|
134 |
143 |
N/A |
INTRINSIC |
|
Pfam:Calponin
|
164 |
188 |
1.1e-18 |
PFAM |
|
Pfam:Calponin
|
204 |
228 |
1.1e-17 |
PFAM |
|
Pfam:Calponin
|
243 |
267 |
2.6e-15 |
PFAM |
|
low complexity region
|
286 |
295 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213607
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214601
AA Change: Q207L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216141
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216872
AA Change: Q157L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9266 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an allele lacking exons 5-7 exhibit accelerated cartilage formation and ossification. As adults mutant animals have increased width of the long bones and accelerated bone fracture repair. Mice homozygous for an allele lacking intron 1exhibit preweaning lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang4 |
T |
C |
14: 52,001,759 (GRCm39) |
K63R |
probably damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,509,071 (GRCm39) |
N176D |
probably damaging |
Het |
| Apbb1 |
A |
T |
7: 105,223,062 (GRCm39) |
L183Q |
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,795,581 (GRCm39) |
V387A |
probably benign |
Het |
| Cldn4 |
A |
G |
5: 134,975,191 (GRCm39) |
S137P |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,824,242 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
C |
T |
15: 73,412,582 (GRCm39) |
H415Y |
probably damaging |
Het |
| Dnpep |
A |
G |
1: 75,292,582 (GRCm39) |
|
probably benign |
Het |
| Dram1 |
C |
A |
10: 88,161,246 (GRCm39) |
V208L |
probably damaging |
Het |
| Elovl2 |
A |
G |
13: 41,343,583 (GRCm39) |
V115A |
possibly damaging |
Het |
| Fryl |
C |
T |
5: 73,282,016 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
G |
5: 21,492,692 (GRCm39) |
T707A |
possibly damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,932,095 (GRCm39) |
M674K |
probably damaging |
Het |
| Larp4 |
A |
G |
15: 99,895,311 (GRCm39) |
T295A |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,399,666 (GRCm39) |
|
probably benign |
Het |
| Lypd10 |
A |
G |
7: 24,413,167 (GRCm39) |
K162R |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,279,391 (GRCm39) |
D3870G |
probably damaging |
Het |
| Mctp2 |
T |
G |
7: 71,835,615 (GRCm39) |
|
probably null |
Het |
| Nbn |
A |
T |
4: 15,970,719 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
G |
2: 52,094,904 (GRCm39) |
Y4883H |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,014,283 (GRCm39) |
C286S |
probably benign |
Het |
| Pabpc4 |
T |
A |
4: 123,186,701 (GRCm39) |
D307E |
possibly damaging |
Het |
| Pik3cg |
G |
A |
12: 32,245,713 (GRCm39) |
|
probably benign |
Het |
| Ptpdc1 |
C |
T |
13: 48,740,286 (GRCm39) |
E382K |
probably damaging |
Het |
| Serpina3k |
A |
G |
12: 104,307,253 (GRCm39) |
T162A |
probably benign |
Het |
| Sis |
T |
C |
3: 72,841,431 (GRCm39) |
T795A |
probably damaging |
Het |
| Skint8 |
T |
A |
4: 111,784,416 (GRCm39) |
V14E |
probably damaging |
Het |
| Slc2a1 |
T |
G |
4: 118,991,645 (GRCm39) |
M351R |
probably damaging |
Het |
| Slc41a3 |
G |
A |
6: 90,621,142 (GRCm39) |
C394Y |
probably benign |
Het |
| Srp54b |
T |
C |
12: 55,302,313 (GRCm39) |
|
probably benign |
Het |
| Ulk2 |
G |
A |
11: 61,710,135 (GRCm39) |
H358Y |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,608,405 (GRCm39) |
I1544N |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,608,321 (GRCm39) |
M1572T |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
|
| Other mutations in Cnn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Cnn1
|
APN |
9 |
22,010,693 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02206:Cnn1
|
APN |
9 |
22,015,674 (GRCm39) |
splice site |
probably benign |
|
|
spring_rolls
|
UTSW |
9 |
22,019,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1647:Cnn1
|
UTSW |
9 |
22,019,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1898:Cnn1
|
UTSW |
9 |
22,012,560 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3522:Cnn1
|
UTSW |
9 |
22,010,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5193:Cnn1
|
UTSW |
9 |
22,019,132 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5343:Cnn1
|
UTSW |
9 |
22,016,706 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7172:Cnn1
|
UTSW |
9 |
22,016,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Cnn1
|
UTSW |
9 |
22,017,078 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7251:Cnn1
|
UTSW |
9 |
22,019,513 (GRCm39) |
missense |
unknown |
|
|
R8290:Cnn1
|
UTSW |
9 |
22,012,447 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8725:Cnn1
|
UTSW |
9 |
22,010,557 (GRCm39) |
unclassified |
probably benign |
|
|
R8727:Cnn1
|
UTSW |
9 |
22,010,557 (GRCm39) |
unclassified |
probably benign |
|
|
R8966:Cnn1
|
UTSW |
9 |
22,010,716 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9216:Cnn1
|
UTSW |
9 |
22,019,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9332:Cnn1
|
UTSW |
9 |
22,019,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGGATTCCAGTTGACAGGATG -3'
(R):5'- AAGCTGACGTTGAGTGTGTCGC -3'
Sequencing Primer
(F):5'- GGCCACACGTTGAATCTTG -3'
(R):5'- CAGTGTTCCATGCCCAGAC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation