Incidental Mutation 'R6441:CN725425'
ID |
519032 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
CN725425
|
Ensembl Gene |
ENSMUSG00000078932 |
Gene Name |
cDNA sequence CN725425 |
Synonyms |
Gm5807 |
MMRRC Submission |
044579-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.157)
|
Stock # |
R6441 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
91083697-91145097 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91120005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 42
(V42A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109284]
[ENSMUST00000190436]
|
AlphaFold |
A0A087WRU1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109284
AA Change: V35A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000104907 Gene: ENSMUSG00000078932 AA Change: V35A
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
41 |
N/A |
INTRINSIC |
Pfam:DUF4552
|
219 |
643 |
2.7e-202 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190436
AA Change: V42A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000140772 Gene: ENSMUSG00000078932 AA Change: V42A
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
48 |
N/A |
INTRINSIC |
Pfam:DUF4552
|
226 |
650 |
1.4e-184 |
PFAM |
|
Meta Mutation Damage Score |
0.1069 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
T |
3: 116,565,108 (GRCm39) |
M1047K |
probably benign |
Het |
Apob |
A |
T |
12: 8,037,796 (GRCm39) |
D322V |
probably damaging |
Het |
Capn12 |
T |
A |
7: 28,587,427 (GRCm39) |
C438S |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,143,815 (GRCm39) |
V2932E |
probably damaging |
Het |
Cdh9 |
A |
T |
15: 16,823,509 (GRCm39) |
T164S |
probably benign |
Het |
Cimap1a |
T |
C |
7: 140,429,161 (GRCm39) |
S149P |
probably damaging |
Het |
Cpb1 |
T |
C |
3: 20,303,978 (GRCm39) |
D362G |
probably damaging |
Het |
Csmd2 |
C |
A |
4: 128,288,757 (GRCm39) |
Q1099K |
probably benign |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Galnt4 |
A |
G |
10: 98,945,960 (GRCm39) |
M562V |
possibly damaging |
Het |
Gtf3c3 |
T |
A |
1: 54,445,197 (GRCm39) |
E619V |
probably benign |
Het |
Gucy2c |
A |
T |
6: 136,700,759 (GRCm39) |
M585K |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,578,967 (GRCm39) |
I1993T |
possibly damaging |
Het |
Lonrf2 |
T |
C |
1: 38,857,204 (GRCm39) |
E44G |
possibly damaging |
Het |
Lrit3 |
A |
T |
3: 129,594,009 (GRCm39) |
F189L |
probably benign |
Het |
Mag |
T |
C |
7: 30,606,508 (GRCm39) |
N310D |
possibly damaging |
Het |
Mccc2 |
T |
C |
13: 100,091,184 (GRCm39) |
T151A |
probably damaging |
Het |
Mybpc1 |
A |
T |
10: 88,389,139 (GRCm39) |
S49T |
probably benign |
Het |
Myh2 |
A |
G |
11: 67,085,437 (GRCm39) |
E1787G |
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,974,712 (GRCm39) |
D728G |
probably benign |
Het |
Nup37 |
A |
G |
10: 87,996,799 (GRCm39) |
E139G |
probably benign |
Het |
Or52h9 |
C |
T |
7: 104,202,542 (GRCm39) |
Q139* |
probably null |
Het |
Pcdhgb5 |
A |
G |
18: 37,865,138 (GRCm39) |
Y311C |
probably damaging |
Het |
Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
Rbm44 |
A |
T |
1: 91,084,799 (GRCm39) |
N674Y |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,759,120 (GRCm39) |
I3353V |
possibly damaging |
Het |
Sema3c |
C |
T |
5: 17,929,130 (GRCm39) |
T588I |
possibly damaging |
Het |
Sh2d5 |
A |
T |
4: 137,986,393 (GRCm39) |
E372V |
possibly damaging |
Het |
Slc27a6 |
C |
T |
18: 58,705,130 (GRCm39) |
P171S |
probably benign |
Het |
Slfn3 |
C |
T |
11: 83,105,740 (GRCm39) |
T579I |
probably benign |
Het |
Svil |
T |
G |
18: 5,049,323 (GRCm39) |
V287G |
probably benign |
Het |
Tas1r2 |
T |
A |
4: 139,396,467 (GRCm39) |
V602D |
probably damaging |
Het |
Tln2 |
A |
G |
9: 67,179,971 (GRCm39) |
L800P |
probably damaging |
Het |
Trim31 |
C |
A |
17: 37,218,683 (GRCm39) |
Q323K |
possibly damaging |
Het |
Txndc9 |
T |
A |
1: 38,029,299 (GRCm39) |
D183V |
possibly damaging |
Het |
Vmn2r28 |
T |
A |
7: 5,491,474 (GRCm39) |
M258L |
probably benign |
Het |
Vmn2r75 |
A |
T |
7: 85,820,784 (GRCm39) |
I50N |
probably damaging |
Het |
Zgrf1 |
A |
T |
3: 127,381,683 (GRCm39) |
N1161Y |
possibly damaging |
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 |
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 |
R6721:CN725425
|
UTSW |
15 |
91,115,821 (GRCm39) |
missense |
possibly damaging |
0.53 |
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'- AGTCTTTCGGCAAGCTACAAGC -3'
(R):5'- GCTAAGCTTATACTTTGAGTTCTGG -3'
Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- CTGGAATTTCTACCCAATTACATGGC -3'
|
Posted On |
2018-05-24 |