Incidental Mutation 'IGL01715:Lrrc74a'
ID |
104915 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrc74a
|
Ensembl Gene |
ENSMUSG00000059114 |
Gene Name |
leucine rich repeat containing 74A |
Synonyms |
Gm6772, Lrrc74 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
IGL01715
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
86781143-86810571 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 86801189 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 347
(M347L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093183
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095527]
[ENSMUST00000222180]
[ENSMUST00000223308]
|
AlphaFold |
A0A1Y7VMD6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095527
AA Change: M347L
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000093183 Gene: ENSMUSG00000059114 AA Change: M347L
Domain | Start | End | E-Value | Type |
Blast:LRR
|
87 |
116 |
9e-7 |
BLAST |
LRR
|
117 |
144 |
4.17e-3 |
SMART |
LRR
|
145 |
172 |
3.16e-3 |
SMART |
LRR
|
174 |
201 |
1.92e-2 |
SMART |
LRR
|
202 |
229 |
3.07e-1 |
SMART |
LRR
|
230 |
257 |
1.03e-2 |
SMART |
LRR
|
258 |
285 |
1.64e-1 |
SMART |
LRR
|
286 |
313 |
2.03e0 |
SMART |
LRR
|
314 |
341 |
1.11e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222180
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223197
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223308
AA Change: M347L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
G |
15: 11,258,182 (GRCm39) |
N498D |
possibly damaging |
Het |
Ap5s1 |
T |
C |
2: 131,053,293 (GRCm39) |
S26P |
probably damaging |
Het |
Apaf1 |
T |
C |
10: 90,894,216 (GRCm39) |
Y473C |
probably benign |
Het |
Cdc42ep4 |
C |
T |
11: 113,620,268 (GRCm39) |
G41D |
probably damaging |
Het |
Ddx42 |
T |
A |
11: 106,115,101 (GRCm39) |
Y60N |
probably damaging |
Het |
Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
Drd3 |
T |
A |
16: 43,641,631 (GRCm39) |
L316M |
probably damaging |
Het |
Hadha |
C |
T |
5: 30,325,082 (GRCm39) |
G703R |
probably damaging |
Het |
Macf1 |
G |
T |
4: 123,284,879 (GRCm39) |
Q4208K |
probably damaging |
Het |
Myh15 |
C |
T |
16: 48,877,847 (GRCm39) |
|
probably benign |
Het |
Ndufa7 |
A |
T |
17: 34,057,122 (GRCm39) |
M101L |
probably benign |
Het |
Pla2g6 |
A |
G |
15: 79,202,057 (GRCm39) |
V38A |
probably benign |
Het |
Sar1a |
A |
G |
10: 61,521,406 (GRCm39) |
|
probably benign |
Het |
Sdc3 |
A |
G |
4: 130,546,378 (GRCm39) |
T246A |
probably damaging |
Het |
Sds |
C |
T |
5: 120,617,272 (GRCm39) |
R43* |
probably null |
Het |
Slc9a9 |
A |
G |
9: 94,842,499 (GRCm39) |
Y350C |
probably damaging |
Het |
Strc |
T |
A |
2: 121,196,218 (GRCm39) |
|
probably null |
Het |
Tln1 |
A |
G |
4: 43,555,890 (GRCm39) |
V108A |
probably damaging |
Het |
Vmn2r111 |
G |
T |
17: 22,788,054 (GRCm39) |
|
probably benign |
Het |
Wnk1 |
G |
A |
6: 119,925,358 (GRCm39) |
P1369S |
probably damaging |
Het |
Zfhx4 |
T |
A |
3: 5,307,105 (GRCm39) |
D110E |
probably benign |
Het |
Zfp462 |
A |
G |
4: 55,008,586 (GRCm39) |
Y184C |
probably benign |
Het |
|
Other mutations in Lrrc74a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01370:Lrrc74a
|
APN |
12 |
86,801,204 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01380:Lrrc74a
|
APN |
12 |
86,808,496 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01832:Lrrc74a
|
APN |
12 |
86,808,488 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01953:Lrrc74a
|
APN |
12 |
86,788,494 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02218:Lrrc74a
|
APN |
12 |
86,795,822 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02637:Lrrc74a
|
APN |
12 |
86,788,521 (GRCm39) |
nonsense |
probably null |
|
IGL03397:Lrrc74a
|
APN |
12 |
86,805,312 (GRCm39) |
missense |
probably benign |
0.39 |
R0201:Lrrc74a
|
UTSW |
12 |
86,808,547 (GRCm39) |
splice site |
probably benign |
|
R0360:Lrrc74a
|
UTSW |
12 |
86,784,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R0403:Lrrc74a
|
UTSW |
12 |
86,787,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R0729:Lrrc74a
|
UTSW |
12 |
86,792,353 (GRCm39) |
nonsense |
probably null |
|
R1675:Lrrc74a
|
UTSW |
12 |
86,787,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R1774:Lrrc74a
|
UTSW |
12 |
86,795,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R1818:Lrrc74a
|
UTSW |
12 |
86,784,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R4688:Lrrc74a
|
UTSW |
12 |
86,784,472 (GRCm39) |
nonsense |
probably null |
|
R6023:Lrrc74a
|
UTSW |
12 |
86,805,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R6190:Lrrc74a
|
UTSW |
12 |
86,783,263 (GRCm39) |
missense |
probably benign |
0.01 |
R6226:Lrrc74a
|
UTSW |
12 |
86,795,231 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6247:Lrrc74a
|
UTSW |
12 |
86,805,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R7275:Lrrc74a
|
UTSW |
12 |
86,787,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R7631:Lrrc74a
|
UTSW |
12 |
86,795,884 (GRCm39) |
missense |
probably damaging |
1.00 |
R7857:Lrrc74a
|
UTSW |
12 |
86,788,485 (GRCm39) |
missense |
probably benign |
0.00 |
R8172:Lrrc74a
|
UTSW |
12 |
86,788,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R8715:Lrrc74a
|
UTSW |
12 |
86,805,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R8717:Lrrc74a
|
UTSW |
12 |
86,783,253 (GRCm39) |
missense |
probably damaging |
0.99 |
R9080:Lrrc74a
|
UTSW |
12 |
86,795,908 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9612:Lrrc74a
|
UTSW |
12 |
86,805,345 (GRCm39) |
missense |
possibly damaging |
0.84 |
X0024:Lrrc74a
|
UTSW |
12 |
86,795,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-01-21 |