Incidental Mutation 'R6721:CN725425'
ID |
529607 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
CN725425
|
Ensembl Gene |
ENSMUSG00000078932 |
Gene Name |
cDNA sequence CN725425 |
Synonyms |
Gm5807 |
MMRRC Submission |
044839-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R6721 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
91083697-91145097 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91115821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 21
(K21R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109284]
[ENSMUST00000190436]
|
AlphaFold |
A0A087WRU1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109284
AA Change: K14R
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104907 Gene: ENSMUSG00000078932 AA Change: K14R
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
41 |
N/A |
INTRINSIC |
Pfam:DUF4552
|
219 |
643 |
2.7e-202 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190436
AA Change: K21R
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000140772 Gene: ENSMUSG00000078932 AA Change: K21R
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
48 |
N/A |
INTRINSIC |
Pfam:DUF4552
|
226 |
650 |
1.4e-184 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
G |
13: 81,629,634 (GRCm39) |
L3588S |
probably benign |
Het |
Ankrd27 |
T |
C |
7: 35,311,976 (GRCm39) |
F402S |
probably damaging |
Het |
Aplp1 |
T |
C |
7: 30,139,720 (GRCm39) |
Q359R |
probably null |
Het |
Arhgef10l |
T |
C |
4: 140,297,655 (GRCm39) |
Y546C |
probably damaging |
Het |
Bltp2 |
T |
C |
11: 78,170,625 (GRCm39) |
Y1615H |
probably damaging |
Het |
Cd46 |
T |
C |
1: 194,765,939 (GRCm39) |
Y142C |
probably damaging |
Het |
Cfap418 |
A |
G |
4: 10,874,744 (GRCm39) |
N44D |
probably benign |
Het |
Chd3 |
T |
C |
11: 69,260,045 (GRCm39) |
|
probably benign |
Het |
Cmtm2b |
A |
G |
8: 105,049,077 (GRCm39) |
S31G |
possibly damaging |
Het |
Cngb1 |
T |
C |
8: 95,997,516 (GRCm39) |
T560A |
probably benign |
Het |
Creb3l3 |
T |
C |
10: 80,926,977 (GRCm39) |
D151G |
probably damaging |
Het |
Cts7 |
A |
T |
13: 61,504,108 (GRCm39) |
V124E |
probably damaging |
Het |
Ctsd |
G |
A |
7: 141,930,590 (GRCm39) |
P349S |
possibly damaging |
Het |
Ern1 |
A |
G |
11: 106,302,478 (GRCm39) |
W459R |
probably damaging |
Het |
Faxc |
A |
T |
4: 21,982,672 (GRCm39) |
|
probably null |
Het |
Gabbr1 |
T |
C |
17: 37,365,084 (GRCm39) |
I239T |
probably damaging |
Het |
Galnt12 |
T |
A |
4: 47,122,529 (GRCm39) |
C269* |
probably null |
Het |
Gmpr2 |
A |
T |
14: 55,910,191 (GRCm39) |
D7V |
probably damaging |
Het |
Hivep3 |
T |
A |
4: 119,952,296 (GRCm39) |
I204N |
possibly damaging |
Het |
Il16 |
A |
T |
7: 83,312,270 (GRCm39) |
|
probably null |
Het |
Jag1 |
T |
C |
2: 136,936,394 (GRCm39) |
T367A |
probably benign |
Het |
Lefty2 |
T |
C |
1: 180,722,166 (GRCm39) |
V168A |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,034,023 (GRCm39) |
E227G |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,352,729 (GRCm39) |
C739S |
possibly damaging |
Het |
Npy1r |
T |
A |
8: 67,156,941 (GRCm39) |
C120* |
probably null |
Het |
Nup153 |
A |
G |
13: 46,854,502 (GRCm39) |
V530A |
probably damaging |
Het |
Ogfr |
T |
A |
2: 180,237,221 (GRCm39) |
L602Q |
possibly damaging |
Het |
Or10g7 |
C |
T |
9: 39,905,603 (GRCm39) |
P166S |
possibly damaging |
Het |
Or10h5 |
C |
T |
17: 33,434,508 (GRCm39) |
G270E |
probably benign |
Het |
Or7e178 |
A |
C |
9: 20,225,576 (GRCm39) |
D213E |
probably benign |
Het |
Perm1 |
G |
T |
4: 156,302,776 (GRCm39) |
R440L |
probably benign |
Het |
Plcb4 |
T |
C |
2: 135,752,157 (GRCm39) |
V121A |
probably benign |
Het |
Plxna4 |
C |
T |
6: 32,177,794 (GRCm39) |
V1036M |
probably benign |
Het |
Ppl |
A |
T |
16: 4,925,333 (GRCm39) |
M102K |
probably damaging |
Het |
Prop1 |
T |
C |
11: 50,844,213 (GRCm39) |
S7G |
probably benign |
Het |
Rabggta |
A |
G |
14: 55,954,660 (GRCm39) |
L507P |
probably damaging |
Het |
Sfmbt2 |
A |
G |
2: 10,547,836 (GRCm39) |
T473A |
probably damaging |
Het |
Spc25 |
A |
C |
2: 69,027,517 (GRCm39) |
M125R |
possibly damaging |
Het |
Taok3 |
T |
C |
5: 117,393,928 (GRCm39) |
M567T |
probably benign |
Het |
Tlr3 |
A |
G |
8: 45,851,917 (GRCm39) |
Y327H |
probably benign |
Het |
Tmem209 |
A |
G |
6: 30,497,174 (GRCm39) |
F339L |
probably benign |
Het |
U2surp |
T |
C |
9: 95,373,157 (GRCm39) |
N279S |
probably damaging |
Het |
Ythdf3 |
G |
A |
3: 16,258,025 (GRCm39) |
M61I |
possibly damaging |
Het |
Zfp647 |
T |
C |
15: 76,796,076 (GRCm39) |
I195V |
probably benign |
Het |
|
Other mutations in CN725425 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01541:CN725425
|
APN |
15 |
91,129,955 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02176:CN725425
|
APN |
15 |
91,130,024 (GRCm39) |
missense |
probably benign |
|
3-1:CN725425
|
UTSW |
15 |
91,144,724 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0449:CN725425
|
UTSW |
15 |
91,123,147 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0554:CN725425
|
UTSW |
15 |
91,144,966 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1442:CN725425
|
UTSW |
15 |
91,123,158 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1670:CN725425
|
UTSW |
15 |
91,130,018 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1674:CN725425
|
UTSW |
15 |
91,131,124 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2425:CN725425
|
UTSW |
15 |
91,130,058 (GRCm39) |
missense |
probably damaging |
0.97 |
R3966:CN725425
|
UTSW |
15 |
91,126,890 (GRCm39) |
critical splice donor site |
probably null |
|
R4959:CN725425
|
UTSW |
15 |
91,129,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4973:CN725425
|
UTSW |
15 |
91,129,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5506:CN725425
|
UTSW |
15 |
91,120,029 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5512:CN725425
|
UTSW |
15 |
91,124,959 (GRCm39) |
missense |
probably benign |
|
R5726:CN725425
|
UTSW |
15 |
91,144,706 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5808:CN725425
|
UTSW |
15 |
91,129,847 (GRCm39) |
missense |
probably benign |
0.32 |
R5820:CN725425
|
UTSW |
15 |
91,144,900 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5945:CN725425
|
UTSW |
15 |
91,129,980 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6366:CN725425
|
UTSW |
15 |
91,131,124 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6441:CN725425
|
UTSW |
15 |
91,120,005 (GRCm39) |
missense |
probably benign |
0.33 |
R6484:CN725425
|
UTSW |
15 |
91,144,775 (GRCm39) |
missense |
probably benign |
0.32 |
R6523:CN725425
|
UTSW |
15 |
91,115,784 (GRCm39) |
missense |
probably benign |
0.01 |
R6901:CN725425
|
UTSW |
15 |
91,124,966 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7341:CN725425
|
UTSW |
15 |
91,126,873 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7654:CN725425
|
UTSW |
15 |
91,123,638 (GRCm39) |
missense |
probably benign |
0.04 |
R7704:CN725425
|
UTSW |
15 |
91,119,993 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7709:CN725425
|
UTSW |
15 |
91,124,930 (GRCm39) |
missense |
probably benign |
|
R7880:CN725425
|
UTSW |
15 |
91,130,308 (GRCm39) |
nonsense |
probably null |
|
R8371:CN725425
|
UTSW |
15 |
91,124,973 (GRCm39) |
missense |
probably benign |
0.33 |
R8964:CN725425
|
UTSW |
15 |
91,119,972 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8968:CN725425
|
UTSW |
15 |
91,130,090 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9505:CN725425
|
UTSW |
15 |
91,124,867 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9632:CN725425
|
UTSW |
15 |
91,126,851 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9689:CN725425
|
UTSW |
15 |
91,120,030 (GRCm39) |
missense |
possibly damaging |
0.70 |
Z1088:CN725425
|
UTSW |
15 |
91,129,965 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGTTCAGTAAACACCGTTTC -3'
(R):5'- ATCATTGTAAGTGTCTGCTTGAGC -3'
Sequencing Primer
(F):5'- GGTTCAGTAAACACCGTTTCTAATGC -3'
(R):5'- GTCTGGAAGACTAGAACTCACTATG -3'
|
Posted On |
2018-08-01 |