Incidental Mutation 'R5143:AY358078'
ID |
396534 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AY358078
|
Ensembl Gene |
ENSMUSG00000050961 |
Gene Name |
cDNA sequence AY358078 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R5143 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
52037503-52063816 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 52040006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 39
(S39P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053821]
|
AlphaFold |
Q6UY53 |
Predicted Effect |
unknown
Transcript: ENSMUST00000053821
AA Change: S39P
|
SMART Domains |
Protein: ENSMUSP00000078129 Gene: ENSMUSG00000050961 AA Change: S39P
Domain | Start | End | E-Value | Type |
Pfam:Takusan
|
91 |
171 |
5.5e-26 |
PFAM |
coiled coil region
|
187 |
220 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
C |
T |
5: 109,887,064 (GRCm39) |
|
probably null |
Het |
Abcc2 |
T |
C |
19: 43,810,100 (GRCm39) |
I886T |
probably benign |
Het |
Adrb2 |
T |
C |
18: 62,311,847 (GRCm39) |
Y326C |
probably damaging |
Het |
Aplp1 |
G |
A |
7: 30,140,548 (GRCm39) |
R334C |
probably damaging |
Het |
Bpifb2 |
A |
T |
2: 153,720,424 (GRCm39) |
D61V |
probably damaging |
Het |
Caap1 |
A |
T |
4: 94,389,619 (GRCm39) |
N238K |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,865,020 (GRCm39) |
V726A |
possibly damaging |
Het |
Chrna7 |
T |
C |
7: 62,755,895 (GRCm39) |
Y217C |
probably damaging |
Het |
Crocc |
T |
A |
4: 140,768,350 (GRCm39) |
T414S |
probably benign |
Het |
Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,158,744 (GRCm39) |
F620I |
possibly damaging |
Het |
Eogt |
A |
G |
6: 97,102,545 (GRCm39) |
L256P |
probably damaging |
Het |
F5 |
A |
G |
1: 164,039,397 (GRCm39) |
I2002M |
probably damaging |
Het |
Foxp1 |
A |
G |
6: 98,922,493 (GRCm39) |
|
probably null |
Het |
Fut8 |
A |
G |
12: 77,411,983 (GRCm39) |
D111G |
probably benign |
Het |
Golgb1 |
C |
T |
16: 36,719,051 (GRCm39) |
A319V |
probably benign |
Het |
Hoxd3 |
C |
T |
2: 74,576,716 (GRCm39) |
R39C |
probably damaging |
Het |
Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
Or52b1 |
T |
A |
7: 104,978,731 (GRCm39) |
I223F |
probably damaging |
Het |
Pate8 |
T |
A |
9: 36,493,200 (GRCm39) |
N41Y |
probably benign |
Het |
Pcdhb2 |
A |
G |
18: 37,429,785 (GRCm39) |
Y586C |
probably damaging |
Het |
Plcd1 |
G |
A |
9: 118,903,519 (GRCm39) |
Q442* |
probably null |
Het |
Plppr5 |
A |
G |
3: 117,419,552 (GRCm39) |
T207A |
probably benign |
Het |
Pomt1 |
C |
A |
2: 32,144,341 (GRCm39) |
A709E |
probably benign |
Het |
Prmt8 |
A |
G |
6: 127,709,677 (GRCm39) |
M61T |
probably benign |
Het |
Ptpn23 |
A |
G |
9: 110,214,506 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
T |
A |
7: 110,021,747 (GRCm39) |
K493* |
probably null |
Het |
Semp2l2a |
A |
G |
8: 13,886,844 (GRCm39) |
S416P |
possibly damaging |
Het |
Tmc2 |
A |
T |
2: 130,076,738 (GRCm39) |
S355C |
probably damaging |
Het |
Tonsl |
A |
G |
15: 76,520,857 (GRCm39) |
S399P |
possibly damaging |
Het |
Ttc14 |
T |
C |
3: 33,863,050 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,568,409 (GRCm39) |
S19168P |
probably damaging |
Het |
Usp17lb |
A |
T |
7: 104,490,685 (GRCm39) |
S80T |
probably damaging |
Het |
Vmn2r96 |
A |
G |
17: 18,804,120 (GRCm39) |
I457V |
possibly damaging |
Het |
Wdr64 |
G |
T |
1: 175,553,979 (GRCm39) |
D170Y |
probably damaging |
Het |
Zbtb42 |
T |
C |
12: 112,645,948 (GRCm39) |
V41A |
probably damaging |
Het |
|
Other mutations in AY358078 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01327:AY358078
|
APN |
14 |
52,043,166 (GRCm39) |
splice site |
probably benign |
|
IGL02053:AY358078
|
APN |
14 |
52,043,009 (GRCm39) |
missense |
unknown |
|
IGL02057:AY358078
|
APN |
14 |
52,057,762 (GRCm39) |
missense |
unknown |
|
IGL02498:AY358078
|
APN |
14 |
52,040,944 (GRCm39) |
missense |
probably benign |
0.00 |
FR4737:AY358078
|
UTSW |
14 |
52,043,155 (GRCm39) |
missense |
unknown |
|
R0140:AY358078
|
UTSW |
14 |
52,063,399 (GRCm39) |
missense |
probably benign |
0.12 |
R0466:AY358078
|
UTSW |
14 |
52,043,089 (GRCm39) |
missense |
unknown |
|
R0496:AY358078
|
UTSW |
14 |
52,040,989 (GRCm39) |
missense |
unknown |
|
R1546:AY358078
|
UTSW |
14 |
52,057,876 (GRCm39) |
splice site |
probably null |
|
R1793:AY358078
|
UTSW |
14 |
52,042,051 (GRCm39) |
missense |
unknown |
|
R1867:AY358078
|
UTSW |
14 |
52,037,504 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
R1993:AY358078
|
UTSW |
14 |
52,063,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R1994:AY358078
|
UTSW |
14 |
52,063,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R1995:AY358078
|
UTSW |
14 |
52,063,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R2184:AY358078
|
UTSW |
14 |
52,063,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R2322:AY358078
|
UTSW |
14 |
52,042,147 (GRCm39) |
missense |
unknown |
|
R2441:AY358078
|
UTSW |
14 |
52,037,546 (GRCm39) |
missense |
probably benign |
0.00 |
R3851:AY358078
|
UTSW |
14 |
52,043,010 (GRCm39) |
missense |
unknown |
|
R3852:AY358078
|
UTSW |
14 |
52,043,010 (GRCm39) |
missense |
unknown |
|
R4600:AY358078
|
UTSW |
14 |
52,063,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4603:AY358078
|
UTSW |
14 |
52,063,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4610:AY358078
|
UTSW |
14 |
52,063,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4611:AY358078
|
UTSW |
14 |
52,063,532 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4916:AY358078
|
UTSW |
14 |
52,040,108 (GRCm39) |
missense |
unknown |
|
R5096:AY358078
|
UTSW |
14 |
52,063,575 (GRCm39) |
missense |
probably benign |
0.19 |
R5609:AY358078
|
UTSW |
14 |
52,042,065 (GRCm39) |
missense |
unknown |
|
R5651:AY358078
|
UTSW |
14 |
52,059,617 (GRCm39) |
missense |
unknown |
|
R6345:AY358078
|
UTSW |
14 |
52,063,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R6988:AY358078
|
UTSW |
14 |
52,063,644 (GRCm39) |
missense |
probably damaging |
0.99 |
R7340:AY358078
|
UTSW |
14 |
52,063,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R8432:AY358078
|
UTSW |
14 |
52,059,635 (GRCm39) |
missense |
unknown |
|
R8684:AY358078
|
UTSW |
14 |
52,059,597 (GRCm39) |
nonsense |
probably null |
|
RF002:AY358078
|
UTSW |
14 |
52,043,050 (GRCm39) |
nonsense |
probably null |
|
RF017:AY358078
|
UTSW |
14 |
52,043,050 (GRCm39) |
nonsense |
probably null |
|
RF025:AY358078
|
UTSW |
14 |
52,043,046 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGTTGCCATACGGTATTTCC -3'
(R):5'- ACTCTGCCCAGGACTCATTG -3'
Sequencing Primer
(F):5'- GTATTTCCCAAGTCACAGGAGATGC -3'
(R):5'- ATTGTGCCTTCCCCAGAATG -3'
|
Posted On |
2016-06-21 |