Incidental Mutation 'IGL03223:Lrrc4'
| ID |
413710 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc4
|
| Ensembl Gene |
ENSMUSG00000049939 |
| Gene Name |
leucine rich repeat containing 4 |
| Synonyms |
Nag14, NGL-2, NGL2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
IGL03223
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
28828125-28831746 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28831469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 49
(C49S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062158
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001460]
[ENSMUST00000062304]
[ENSMUST00000164915]
[ENSMUST00000167201]
[ENSMUST00000171353]
|
| AlphaFold |
Q99PH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001460
|
| SMART Domains |
Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
SNc
|
18 |
166 |
7.12e-54 |
SMART |
|
SNc
|
193 |
328 |
8.37e-51 |
SMART |
|
SNc
|
341 |
496 |
4.11e-59 |
SMART |
|
SNc
|
525 |
660 |
3.82e-45 |
SMART |
|
TUDOR
|
728 |
785 |
4.8e-19 |
SMART |
|
Pfam:SNase
|
835 |
895 |
1.3e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062304
AA Change: C49S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062158
Gene: ENSMUSG00000049939
AA Change: C49S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
40 |
N/A |
INTRINSIC |
|
LRRNT
|
44 |
78 |
4.05e-5 |
SMART |
|
LRR
|
72 |
96 |
1.19e2 |
SMART |
|
LRR_TYP
|
97 |
120 |
2.24e-3 |
SMART |
|
LRR
|
121 |
144 |
6.13e-1 |
SMART |
|
LRR_TYP
|
145 |
168 |
5.99e-4 |
SMART |
|
LRR
|
216 |
239 |
1.25e-1 |
SMART |
|
LRR
|
240 |
263 |
4.71e1 |
SMART |
|
LRR_TYP
|
264 |
287 |
2.79e-4 |
SMART |
|
LRRCT
|
299 |
350 |
8.06e-6 |
SMART |
|
IGc2
|
364 |
430 |
5.24e-7 |
SMART |
|
low complexity region
|
452 |
462 |
N/A |
INTRINSIC |
|
transmembrane domain
|
527 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
586 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164915
|
| SMART Domains |
Protein: ENSMUSP00000127317
Gene: ENSMUSG00000001424
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
SNc
|
18 |
142 |
1.56e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167201
|
| SMART Domains |
Protein: ENSMUSP00000128737
Gene: ENSMUSG00000001424
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
SNc
|
18 |
166 |
7.12e-54 |
SMART |
|
SNc
|
193 |
328 |
8.37e-51 |
SMART |
|
SNc
|
341 |
496 |
4.11e-59 |
SMART |
|
SCOP:d1sty__
|
526 |
592 |
1e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169579
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171195
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171353
|
| SMART Domains |
Protein: ENSMUSP00000129497
Gene: ENSMUSG00000049939
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit hyperactivity, an absence of startle reflex, and abnormal ABR amplitude. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3b1 |
T |
A |
19: 3,965,329 (GRCm39) |
H394L |
probably damaging |
Het |
| B430306N03Rik |
G |
A |
17: 48,623,896 (GRCm39) |
V66I |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,931,877 (GRCm39) |
N175S |
probably damaging |
Het |
| Dock4 |
C |
A |
12: 40,867,593 (GRCm39) |
Q1390K |
probably damaging |
Het |
| Eea1 |
A |
C |
10: 95,875,473 (GRCm39) |
E1248A |
probably damaging |
Het |
| Farp2 |
T |
A |
1: 93,545,324 (GRCm39) |
Y827* |
probably null |
Het |
| Gcc2 |
A |
G |
10: 58,134,556 (GRCm39) |
Y1510C |
probably damaging |
Het |
| Igfbp7 |
A |
C |
5: 77,497,318 (GRCm39) |
|
probably benign |
Het |
| Il1rapl1 |
A |
C |
X: 86,344,341 (GRCm39) |
C185G |
probably damaging |
Het |
| Itga7 |
A |
G |
10: 128,784,680 (GRCm39) |
|
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,702,194 (GRCm39) |
V12A |
probably benign |
Het |
| Lrrc49 |
T |
A |
9: 60,595,128 (GRCm39) |
K5N |
possibly damaging |
Het |
| Myh13 |
T |
C |
11: 67,241,068 (GRCm39) |
I815T |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,174,644 (GRCm39) |
I253T |
probably damaging |
Het |
| Myo19 |
A |
G |
11: 84,801,297 (GRCm39) |
T948A |
possibly damaging |
Het |
| Nhs |
T |
A |
X: 160,624,902 (GRCm39) |
I837F |
probably damaging |
Het |
| Or5b113 |
G |
T |
19: 13,342,645 (GRCm39) |
V218L |
probably benign |
Het |
| Or5b98 |
T |
C |
19: 12,931,268 (GRCm39) |
V105A |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,438 (GRCm39) |
Q563L |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,255,170 (GRCm39) |
M809T |
possibly damaging |
Het |
| Tbc1d13 |
T |
A |
2: 30,038,648 (GRCm39) |
I311N |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,591,322 (GRCm39) |
|
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,036,813 (GRCm39) |
T431M |
probably damaging |
Het |
| Vdac1 |
G |
A |
11: 52,267,482 (GRCm39) |
R93H |
probably benign |
Het |
| Vmn1r234 |
G |
A |
17: 21,449,653 (GRCm39) |
G189D |
probably damaging |
Het |
| Zfp14 |
A |
G |
7: 29,737,858 (GRCm39) |
Y376H |
probably damaging |
Het |
| Zfp472 |
T |
C |
17: 33,196,248 (GRCm39) |
C108R |
probably benign |
Het |
| Zfp658 |
A |
G |
7: 43,216,735 (GRCm39) |
E35G |
possibly damaging |
Het |
|
| Other mutations in Lrrc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02230:Lrrc4
|
APN |
6 |
28,830,879 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03410:Lrrc4
|
APN |
6 |
28,830,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Lrrc4
|
UTSW |
6 |
28,829,734 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0233:Lrrc4
|
UTSW |
6 |
28,829,734 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0456:Lrrc4
|
UTSW |
6 |
28,831,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1162:Lrrc4
|
UTSW |
6 |
28,831,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Lrrc4
|
UTSW |
6 |
28,830,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2089:Lrrc4
|
UTSW |
6 |
28,830,586 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2091:Lrrc4
|
UTSW |
6 |
28,830,586 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2091:Lrrc4
|
UTSW |
6 |
28,830,586 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2353:Lrrc4
|
UTSW |
6 |
28,831,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5079:Lrrc4
|
UTSW |
6 |
28,830,769 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5197:Lrrc4
|
UTSW |
6 |
28,830,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6701:Lrrc4
|
UTSW |
6 |
28,830,905 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6755:Lrrc4
|
UTSW |
6 |
28,831,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7660:Lrrc4
|
UTSW |
6 |
28,829,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7661:Lrrc4
|
UTSW |
6 |
28,829,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8113:Lrrc4
|
UTSW |
6 |
28,829,902 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8272:Lrrc4
|
UTSW |
6 |
28,662,192 (GRCm39) |
missense |
unknown |
|
|
R9074:Lrrc4
|
UTSW |
6 |
28,831,595 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9094:Lrrc4
|
UTSW |
6 |
28,830,206 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9197:Lrrc4
|
UTSW |
6 |
28,831,318 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9447:Lrrc4
|
UTSW |
6 |
28,830,650 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9803:Lrrc4
|
UTSW |
6 |
28,662,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation