Incidental Mutation 'R0095:Lratd2'
ID |
64041 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lratd2
|
Ensembl Gene |
ENSMUSG00000072568 |
Gene Name |
LRAT domain containing 1 |
Synonyms |
Fam84b, D330050I23Rik |
MMRRC Submission |
038381-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R0095 (G1)
|
Quality Score |
84 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
60690845-60697954 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60695425 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 107
(Y107C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098200
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100635]
|
AlphaFold |
D3YXJ5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100635
AA Change: Y107C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098200 Gene: ENSMUSG00000072568 AA Change: Y107C
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
52 |
N/A |
INTRINSIC |
low complexity region
|
53 |
78 |
N/A |
INTRINSIC |
Pfam:LRAT
|
114 |
163 |
3.6e-9 |
PFAM |
Pfam:LRAT
|
147 |
214 |
2.8e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180730
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181910
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186536
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186605
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192865
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa8 |
G |
A |
14: 33,808,028 (GRCm39) |
A6T |
probably benign |
Het |
Bicc1 |
T |
A |
10: 70,796,988 (GRCm39) |
I42F |
probably damaging |
Het |
Cutc |
T |
C |
19: 43,741,638 (GRCm39) |
W13R |
probably benign |
Het |
F5 |
A |
T |
1: 164,019,537 (GRCm39) |
R671* |
probably null |
Het |
Fer |
A |
T |
17: 64,248,321 (GRCm39) |
E361V |
possibly damaging |
Het |
Hnrnpa3 |
G |
T |
2: 75,492,040 (GRCm39) |
R52L |
probably damaging |
Het |
Igsf10 |
A |
T |
3: 59,238,617 (GRCm39) |
Y521* |
probably null |
Het |
Mmp1a |
G |
A |
9: 7,465,621 (GRCm39) |
G186D |
possibly damaging |
Het |
Naip1 |
T |
C |
13: 100,559,591 (GRCm39) |
T1138A |
probably benign |
Het |
Necab1 |
T |
A |
4: 14,960,027 (GRCm39) |
N307Y |
possibly damaging |
Het |
Or5p81 |
A |
C |
7: 108,267,252 (GRCm39) |
I210L |
probably benign |
Het |
Plekha5 |
T |
C |
6: 140,474,323 (GRCm39) |
F84L |
probably damaging |
Het |
Rpl6 |
T |
G |
5: 121,343,902 (GRCm39) |
V115G |
possibly damaging |
Het |
Sec16a |
A |
T |
2: 26,315,772 (GRCm39) |
|
probably null |
Het |
Tpsg1 |
T |
C |
17: 25,591,528 (GRCm39) |
W43R |
probably damaging |
Het |
Unc45a |
T |
C |
7: 79,979,291 (GRCm39) |
D567G |
probably damaging |
Het |
Usp30 |
T |
A |
5: 114,243,901 (GRCm39) |
F157I |
probably damaging |
Het |
Zfp345 |
T |
A |
2: 150,314,220 (GRCm39) |
H439L |
probably damaging |
Het |
|
Other mutations in Lratd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01138:Lratd2
|
APN |
15 |
60,694,967 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02072:Lratd2
|
APN |
15 |
60,695,302 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02588:Lratd2
|
APN |
15 |
60,694,999 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02823:Lratd2
|
APN |
15 |
60,694,972 (GRCm39) |
missense |
probably damaging |
0.97 |
R0276:Lratd2
|
UTSW |
15 |
60,695,523 (GRCm39) |
nonsense |
probably null |
|
R0285:Lratd2
|
UTSW |
15 |
60,694,816 (GRCm39) |
missense |
probably benign |
0.02 |
R1538:Lratd2
|
UTSW |
15 |
60,695,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R3162:Lratd2
|
UTSW |
15 |
60,695,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Lratd2
|
UTSW |
15 |
60,695,478 (GRCm39) |
missense |
probably benign |
0.00 |
R4801:Lratd2
|
UTSW |
15 |
60,695,793 (GRCm39) |
start gained |
probably benign |
|
R4802:Lratd2
|
UTSW |
15 |
60,695,793 (GRCm39) |
start gained |
probably benign |
|
R6125:Lratd2
|
UTSW |
15 |
60,695,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R6254:Lratd2
|
UTSW |
15 |
60,695,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R6950:Lratd2
|
UTSW |
15 |
60,695,563 (GRCm39) |
missense |
probably benign |
0.01 |
R6957:Lratd2
|
UTSW |
15 |
60,694,934 (GRCm39) |
missense |
probably benign |
|
R9624:Lratd2
|
UTSW |
15 |
60,694,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCGAGAGCTGAATCTGCAAAC -3'
(R):5'- TTTCTCCAATGACGACGAGGATGTG -3'
Sequencing Primer
(F):5'- TGTAGCGATACAGATCGTTGACC -3'
(R):5'- AGGATGTGGAACCTCAGCC -3'
|
Posted On |
2013-08-06 |