Incidental Mutation 'IGL03156:Lrrc14b'
| ID |
411271 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc14b
|
| Ensembl Gene |
ENSMUSG00000021579 |
| Gene Name |
leucine rich repeat containing 14B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL03156
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
74507701-74512119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74512023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 19
(V19A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022063]
[ENSMUST00000022064]
[ENSMUST00000159931]
[ENSMUST00000160021]
[ENSMUST00000162672]
|
| AlphaFold |
Q3UJB3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022063
|
| SMART Domains |
Protein: ENSMUSP00000022063
Gene: ENSMUSG00000021578
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
78 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022064
AA Change: V19A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022064
Gene: ENSMUSG00000021579
AA Change: V19A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
208 |
417 |
8e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159931
|
| SMART Domains |
Protein: ENSMUSP00000124009
Gene: ENSMUSG00000021578
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
45 |
N/A |
INTRINSIC |
|
coiled coil region
|
78 |
140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160021
|
| SMART Domains |
Protein: ENSMUSP00000124193
Gene: ENSMUSG00000021578
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
45 |
N/A |
INTRINSIC |
|
coiled coil region
|
78 |
140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162672
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,023,074 (GRCm39) |
I70T |
possibly damaging |
Het |
| Acot11 |
A |
G |
4: 106,611,333 (GRCm39) |
Y365H |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,197,544 (GRCm39) |
V947A |
probably benign |
Het |
| Ccdc159 |
G |
T |
9: 21,840,771 (GRCm39) |
V113L |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,733,788 (GRCm39) |
D3035G |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,719,672 (GRCm39) |
I433F |
probably damaging |
Het |
| Cntn5 |
T |
C |
9: 9,673,882 (GRCm39) |
Y740C |
probably damaging |
Het |
| Dennd5a |
C |
A |
7: 109,518,462 (GRCm39) |
|
probably benign |
Het |
| Des |
G |
A |
1: 75,339,640 (GRCm39) |
E333K |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,644,983 (GRCm39) |
R1018G |
probably damaging |
Het |
| Eif2b2 |
G |
T |
12: 85,266,495 (GRCm39) |
A54S |
probably damaging |
Het |
| Gm7276 |
C |
T |
18: 77,273,299 (GRCm39) |
|
probably benign |
Het |
| Hsbp1l1 |
A |
G |
18: 80,278,734 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
G |
A |
13: 49,856,655 (GRCm39) |
G303S |
possibly damaging |
Het |
| Il18r1 |
A |
G |
1: 40,537,528 (GRCm39) |
E431G |
possibly damaging |
Het |
| Map1lc3a |
T |
A |
2: 155,118,929 (GRCm39) |
I31N |
probably damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,083,114 (GRCm39) |
I102K |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,945,722 (GRCm39) |
Y4163C |
probably damaging |
Het |
| Or5p6 |
T |
A |
7: 107,631,558 (GRCm39) |
|
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,070 (GRCm39) |
T632A |
probably benign |
Het |
| Potefam1 |
T |
C |
2: 111,030,757 (GRCm39) |
D12G |
possibly damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,174,595 (GRCm39) |
L71P |
possibly damaging |
Het |
| Ptgs2 |
T |
G |
1: 149,981,228 (GRCm39) |
F504V |
probably damaging |
Het |
| Rimbp2 |
T |
G |
5: 128,848,821 (GRCm39) |
R908S |
probably damaging |
Het |
| Rnh1 |
T |
C |
7: 140,743,096 (GRCm39) |
N268S |
probably damaging |
Het |
| Sap30l |
T |
C |
11: 57,696,994 (GRCm39) |
|
probably null |
Het |
| Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,158 (GRCm39) |
Y158C |
probably damaging |
Het |
| Tmem237 |
A |
T |
1: 59,148,286 (GRCm39) |
D148E |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,379,451 (GRCm39) |
D232G |
probably benign |
Het |
| Zan |
T |
A |
5: 137,462,201 (GRCm39) |
T993S |
unknown |
Het |
| Zfp236 |
G |
A |
18: 82,698,827 (GRCm39) |
L85F |
probably damaging |
Het |
| Zfp352 |
G |
A |
4: 90,112,324 (GRCm39) |
D155N |
possibly damaging |
Het |
| Zfp867 |
T |
C |
11: 59,355,834 (GRCm39) |
|
probably benign |
Het |
| Zmiz2 |
T |
C |
11: 6,349,536 (GRCm39) |
F399L |
probably damaging |
Het |
|
| Other mutations in Lrrc14b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Lrrc14b
|
APN |
13 |
74,509,078 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01521:Lrrc14b
|
APN |
13 |
74,511,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0457:Lrrc14b
|
UTSW |
13 |
74,509,279 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1631:Lrrc14b
|
UTSW |
13 |
74,509,373 (GRCm39) |
splice site |
probably null |
|
|
R1741:Lrrc14b
|
UTSW |
13 |
74,511,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Lrrc14b
|
UTSW |
13 |
74,511,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2047:Lrrc14b
|
UTSW |
13 |
74,511,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2149:Lrrc14b
|
UTSW |
13 |
74,511,876 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3083:Lrrc14b
|
UTSW |
13 |
74,511,337 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3838:Lrrc14b
|
UTSW |
13 |
74,511,664 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3892:Lrrc14b
|
UTSW |
13 |
74,511,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5748:Lrrc14b
|
UTSW |
13 |
74,511,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6508:Lrrc14b
|
UTSW |
13 |
74,511,337 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6663:Lrrc14b
|
UTSW |
13 |
74,509,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6687:Lrrc14b
|
UTSW |
13 |
74,508,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7309:Lrrc14b
|
UTSW |
13 |
74,511,321 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7472:Lrrc14b
|
UTSW |
13 |
74,511,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Lrrc14b
|
UTSW |
13 |
74,508,892 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7629:Lrrc14b
|
UTSW |
13 |
74,509,283 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7695:Lrrc14b
|
UTSW |
13 |
74,511,297 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8169:Lrrc14b
|
UTSW |
13 |
74,511,286 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8824:Lrrc14b
|
UTSW |
13 |
74,512,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8852:Lrrc14b
|
UTSW |
13 |
74,509,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8860:Lrrc14b
|
UTSW |
13 |
74,509,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9010:Lrrc14b
|
UTSW |
13 |
74,509,151 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9548:Lrrc14b
|
UTSW |
13 |
74,511,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2016-08-02 |
Incidental Mutation