Incidental Mutation 'IGL02985:Lrrc34'
| ID |
406672 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc34
|
| Ensembl Gene |
ENSMUSG00000027702 |
| Gene Name |
leucine rich repeat containing 34 |
| Synonyms |
Spata34, 1700007J06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL02985
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
30678416-30701967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30690444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 153
(M153V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029252]
|
| AlphaFold |
Q9DAM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029252
AA Change: M153V
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029252
Gene: ENSMUSG00000027702
AA Change: M153V
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
73 |
100 |
2.23e2 |
SMART |
|
LRR
|
101 |
128 |
6.92e-1 |
SMART |
|
LRR
|
129 |
156 |
1.78e0 |
SMART |
|
LRR
|
157 |
184 |
1.67e-2 |
SMART |
|
Blast:LRR
|
216 |
242 |
2e-9 |
BLAST |
|
LRR
|
244 |
271 |
2.57e-3 |
SMART |
|
LRR
|
272 |
299 |
5.59e-4 |
SMART |
|
LRR
|
301 |
328 |
4.16e0 |
SMART |
|
LRR
|
329 |
356 |
1.66e2 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,878,641 (GRCm39) |
E318G |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,947,185 (GRCm39) |
V2968A |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,012,906 (GRCm39) |
L1862S |
probably damaging |
Het |
| Cfap91 |
T |
A |
16: 38,118,634 (GRCm39) |
I722F |
probably damaging |
Het |
| Csgalnact1 |
A |
G |
8: 68,913,695 (GRCm39) |
V170A |
probably benign |
Het |
| Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
| Dph1 |
A |
G |
11: 75,074,419 (GRCm39) |
V131A |
possibly damaging |
Het |
| Galr1 |
A |
T |
18: 82,411,855 (GRCm39) |
M337K |
probably benign |
Het |
| Gm14214 |
G |
T |
2: 154,611,374 (GRCm39) |
T160N |
probably benign |
Het |
| Gpatch8 |
G |
T |
11: 102,372,336 (GRCm39) |
H401N |
unknown |
Het |
| Higd1a |
A |
G |
9: 121,681,596 (GRCm39) |
F20L |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,547,668 (GRCm39) |
I2761K |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,235,114 (GRCm39) |
Y83N |
probably damaging |
Het |
| Ilvbl |
C |
T |
10: 78,414,901 (GRCm39) |
P255S |
probably benign |
Het |
| Kpna2 |
T |
C |
11: 106,880,163 (GRCm39) |
Y495C |
probably benign |
Het |
| Krt36 |
G |
T |
11: 99,994,005 (GRCm39) |
Q327K |
probably benign |
Het |
| Map9 |
A |
T |
3: 82,267,209 (GRCm39) |
R30* |
probably null |
Het |
| Mcf2l |
A |
G |
8: 13,013,239 (GRCm39) |
Y48C |
probably damaging |
Het |
| Mfsd13b |
T |
A |
7: 120,599,395 (GRCm39) |
I397K |
probably damaging |
Het |
| Mpp7 |
C |
A |
18: 7,461,637 (GRCm39) |
|
probably null |
Het |
| Mrgprx2 |
C |
T |
7: 48,132,245 (GRCm39) |
C191Y |
probably damaging |
Het |
| Or4c58 |
A |
T |
2: 89,674,684 (GRCm39) |
I211N |
possibly damaging |
Het |
| Pabpc4l |
A |
G |
3: 46,401,017 (GRCm39) |
V209A |
possibly damaging |
Het |
| Pde7a |
T |
A |
3: 19,365,047 (GRCm39) |
H40L |
probably damaging |
Het |
| Phactr3 |
T |
C |
2: 177,817,250 (GRCm39) |
V22A |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,994,842 (GRCm39) |
E1104* |
probably null |
Het |
| Ppp2cb |
A |
G |
8: 34,105,474 (GRCm39) |
|
probably benign |
Het |
| Prl3c1 |
A |
T |
13: 27,383,370 (GRCm39) |
Y12F |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,993,723 (GRCm39) |
|
probably null |
Het |
| Rfesd |
T |
C |
13: 76,156,331 (GRCm39) |
D25G |
probably damaging |
Het |
| Rxfp1 |
C |
A |
3: 79,559,533 (GRCm39) |
M429I |
possibly damaging |
Het |
| Tmf1 |
A |
G |
6: 97,153,770 (GRCm39) |
L101P |
probably damaging |
Het |
| Ube2d2b |
T |
C |
5: 107,978,663 (GRCm39) |
S105P |
probably damaging |
Het |
| Zfp518a |
C |
T |
19: 40,902,111 (GRCm39) |
T680I |
possibly damaging |
Het |
|
| Other mutations in Lrrc34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02502:Lrrc34
|
APN |
3 |
30,699,394 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02738:Lrrc34
|
APN |
3 |
30,685,441 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02999:Lrrc34
|
APN |
3 |
30,688,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0367:Lrrc34
|
UTSW |
3 |
30,684,142 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0761:Lrrc34
|
UTSW |
3 |
30,685,425 (GRCm39) |
splice site |
probably null |
|
|
R1426:Lrrc34
|
UTSW |
3 |
30,697,728 (GRCm39) |
unclassified |
probably benign |
|
|
R1980:Lrrc34
|
UTSW |
3 |
30,696,890 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2215:Lrrc34
|
UTSW |
3 |
30,697,678 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2414:Lrrc34
|
UTSW |
3 |
30,688,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4379:Lrrc34
|
UTSW |
3 |
30,685,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Lrrc34
|
UTSW |
3 |
30,690,397 (GRCm39) |
nonsense |
probably null |
|
|
R5418:Lrrc34
|
UTSW |
3 |
30,696,923 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5662:Lrrc34
|
UTSW |
3 |
30,685,473 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6736:Lrrc34
|
UTSW |
3 |
30,679,008 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6809:Lrrc34
|
UTSW |
3 |
30,688,749 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6941:Lrrc34
|
UTSW |
3 |
30,678,969 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7017:Lrrc34
|
UTSW |
3 |
30,699,465 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7080:Lrrc34
|
UTSW |
3 |
30,688,705 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7139:Lrrc34
|
UTSW |
3 |
30,679,036 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7191:Lrrc34
|
UTSW |
3 |
30,679,027 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7398:Lrrc34
|
UTSW |
3 |
30,697,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7662:Lrrc34
|
UTSW |
3 |
30,697,452 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7707:Lrrc34
|
UTSW |
3 |
30,679,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7945:Lrrc34
|
UTSW |
3 |
30,696,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8799:Lrrc34
|
UTSW |
3 |
30,678,979 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9764:Lrrc34
|
UTSW |
3 |
30,697,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation