Incidental Mutation 'R3851:AY358078'
| ID |
359715 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AY358078
|
| Ensembl Gene |
ENSMUSG00000050961 |
| Gene Name |
cDNA sequence AY358078 |
| Synonyms |
|
| MMRRC Submission |
040899-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R3851 (G1)
|
| Quality Score |
80 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52037503-52063816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52043010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 233
(T233A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053821]
|
| AlphaFold |
Q6UY53 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000053821
AA Change: T233A
|
| SMART Domains |
Protein: ENSMUSP00000078129
Gene: ENSMUSG00000050961
AA Change: T233A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
91 |
171 |
5.5e-26 |
PFAM |
|
coiled coil region
|
187 |
220 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
G |
A |
7: 101,039,372 (GRCm39) |
W544* |
probably null |
Het |
| Bcl9 |
G |
A |
3: 97,116,969 (GRCm39) |
P575L |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,693,735 (GRCm39) |
Y353C |
probably damaging |
Het |
| Cry1 |
C |
A |
10: 84,982,363 (GRCm39) |
A328S |
probably benign |
Het |
| Dclre1a |
A |
T |
19: 56,529,939 (GRCm39) |
N799K |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 162,148,696 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
T |
14: 121,866,498 (GRCm39) |
|
probably null |
Het |
| Dpysl4 |
C |
T |
7: 138,680,851 (GRCm39) |
T575M |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,788,464 (GRCm39) |
Q276* |
probably null |
Het |
| Dzip3 |
T |
C |
16: 48,770,376 (GRCm39) |
T389A |
possibly damaging |
Het |
| Flnc |
T |
A |
6: 29,453,718 (GRCm39) |
L1801Q |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,490,936 (GRCm39) |
L463P |
probably benign |
Het |
| Fnip2 |
G |
C |
3: 79,369,464 (GRCm39) |
H1074D |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,195,623 (GRCm39) |
E806G |
probably benign |
Het |
| H2-Q5 |
T |
A |
17: 35,613,115 (GRCm39) |
M5K |
unknown |
Het |
| Il27ra |
C |
T |
8: 84,767,317 (GRCm39) |
E169K |
probably benign |
Het |
| Insyn2a |
A |
G |
7: 134,486,255 (GRCm39) |
V432A |
probably benign |
Het |
| Itpkc |
A |
T |
7: 26,927,037 (GRCm39) |
N292K |
probably benign |
Het |
| Lhfpl3 |
G |
A |
5: 22,980,985 (GRCm39) |
|
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,951,752 (GRCm39) |
|
probably benign |
Het |
| Mas1 |
C |
G |
17: 13,060,880 (GRCm39) |
S181T |
probably benign |
Het |
| Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
| Nubpl |
T |
C |
12: 52,190,810 (GRCm39) |
M65T |
probably damaging |
Het |
| Or6c76b |
A |
C |
10: 129,693,016 (GRCm39) |
M210L |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,674,118 (GRCm39) |
I1042T |
possibly damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,467,518 (GRCm39) |
S1779Y |
probably damaging |
Het |
| Pgm5 |
C |
T |
19: 24,797,567 (GRCm39) |
R205Q |
probably damaging |
Het |
| Radil |
T |
C |
5: 142,492,752 (GRCm39) |
D292G |
probably damaging |
Het |
| Rbp3 |
C |
A |
14: 33,677,464 (GRCm39) |
H471N |
probably damaging |
Het |
| Rgs14 |
T |
A |
13: 55,527,427 (GRCm39) |
L221Q |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slco4a1 |
C |
T |
2: 180,105,884 (GRCm39) |
T22M |
probably benign |
Het |
| Sult2b1 |
G |
T |
7: 45,379,461 (GRCm39) |
|
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Ttn |
G |
T |
2: 76,581,678 (GRCm39) |
L23072I |
possibly damaging |
Het |
| Zfp521 |
T |
C |
18: 13,850,808 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R5143:AY358078
|
UTSW |
14 |
52,040,006 (GRCm39) |
missense |
unknown |
|
|
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'- CATAGTACTTGGAGGAGTTACAGGC -3'
(R):5'- AGAAAGCCTTGTAGATGATACCC -3'
Sequencing Primer
(F):5'- TGGAAGCTAGCTGGGAATCACC -3'
(R):5'- TACCCTAAATGAACACTTGAAGGAG -3'
|
| Posted On |
2015-12-08 |
Incidental Mutation