Incidental Mutation 'IGL01521:Lrrc14b'
ID |
90502 |
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 # |
IGL01521
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
74507701-74512119 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 74511691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 130
(R130C)
|
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 damaging
Transcript: ENSMUST00000022064
AA Change: R130C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022064 Gene: ENSMUSG00000021579 AA Change: R130C
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 |
Aars1 |
A |
T |
8: 111,770,419 (GRCm39) |
I406F |
possibly damaging |
Het |
Adgrb2 |
A |
G |
4: 129,886,085 (GRCm39) |
E75G |
probably damaging |
Het |
Angptl2 |
T |
C |
2: 33,136,215 (GRCm39) |
Y467H |
probably damaging |
Het |
Arap1 |
G |
T |
7: 101,049,812 (GRCm39) |
|
probably null |
Het |
Arfgap1 |
G |
A |
2: 180,613,371 (GRCm39) |
C22Y |
probably damaging |
Het |
Artn |
G |
A |
4: 117,784,484 (GRCm39) |
P25S |
probably damaging |
Het |
Bicra |
G |
T |
7: 15,723,113 (GRCm39) |
Q135K |
probably benign |
Het |
Clpx |
T |
C |
9: 65,226,026 (GRCm39) |
V367A |
probably damaging |
Het |
Clstn3 |
C |
T |
6: 124,434,990 (GRCm39) |
W308* |
probably null |
Het |
Cpb2 |
T |
A |
14: 75,495,071 (GRCm39) |
V67D |
probably damaging |
Het |
Cyp2c38 |
A |
G |
19: 39,449,114 (GRCm39) |
Y80H |
probably damaging |
Het |
Dbt |
A |
G |
3: 116,327,032 (GRCm39) |
D127G |
probably benign |
Het |
Elp1 |
T |
A |
4: 56,771,059 (GRCm39) |
E961D |
probably benign |
Het |
Fhod1 |
G |
A |
8: 106,057,055 (GRCm39) |
A973V |
probably benign |
Het |
Flacc1 |
T |
G |
1: 58,709,553 (GRCm39) |
K201Q |
probably damaging |
Het |
Focad |
A |
T |
4: 88,328,927 (GRCm39) |
*1713C |
probably null |
Het |
Gemin5 |
A |
T |
11: 58,025,744 (GRCm39) |
|
probably benign |
Het |
Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
Kif23 |
T |
A |
9: 61,827,182 (GRCm39) |
T890S |
probably damaging |
Het |
Kmt5b |
T |
A |
19: 3,836,618 (GRCm39) |
S52T |
possibly damaging |
Het |
Lipo3 |
A |
T |
19: 33,763,083 (GRCm39) |
D53E |
probably damaging |
Het |
Myt1 |
T |
A |
2: 181,467,704 (GRCm39) |
I1046K |
probably damaging |
Het |
Napsa |
A |
T |
7: 44,236,061 (GRCm39) |
I367F |
probably damaging |
Het |
Or5aq1b |
C |
T |
2: 86,902,077 (GRCm39) |
V134I |
probably benign |
Het |
Or8b56 |
A |
T |
9: 38,739,185 (GRCm39) |
Y66F |
probably damaging |
Het |
Rgcc |
T |
G |
14: 79,538,185 (GRCm39) |
S69R |
probably damaging |
Het |
Rin3 |
T |
A |
12: 102,335,307 (GRCm39) |
I326N |
probably benign |
Het |
Sipa1 |
C |
A |
19: 5,711,006 (GRCm39) |
M1I |
probably null |
Het |
Sirpb1a |
T |
A |
3: 15,475,561 (GRCm39) |
M325L |
probably benign |
Het |
Sult1a1 |
C |
A |
7: 126,274,451 (GRCm39) |
V71F |
possibly damaging |
Het |
Tgds |
G |
T |
14: 118,350,506 (GRCm39) |
P349Q |
probably damaging |
Het |
Tmem63c |
T |
A |
12: 87,115,918 (GRCm39) |
H186Q |
probably damaging |
Het |
Trappc9 |
A |
G |
15: 72,924,016 (GRCm39) |
L242S |
probably damaging |
Het |
Trip12 |
T |
A |
1: 84,743,919 (GRCm39) |
|
probably benign |
Het |
Zfp451 |
T |
C |
1: 33,816,412 (GRCm39) |
|
probably null |
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 |
IGL03156:Lrrc14b
|
APN |
13 |
74,512,023 (GRCm39) |
missense |
probably benign |
|
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 |
2013-12-09 |