Incidental Mutation 'IGL00516:Lrrc14b'
| ID |
5922 |
| 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 # |
IGL00516
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
74507701-74512119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74509078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 443
(D443G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022063]
[ENSMUST00000022064]
[ENSMUST00000159931]
[ENSMUST00000160021]
[ENSMUST00000162376]
[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: D443G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022064
Gene: ENSMUSG00000021579
AA Change: D443G
| 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: ENSMUST00000162376
|
| SMART Domains |
Protein: ENSMUSP00000123805
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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223491
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
T |
C |
11: 80,267,638 (GRCm39) |
D91G |
possibly damaging |
Het |
| Abcc1 |
T |
A |
16: 14,231,176 (GRCm39) |
L438* |
probably null |
Het |
| Asph |
A |
T |
4: 9,639,322 (GRCm39) |
N14K |
probably damaging |
Het |
| Baz1b |
T |
C |
5: 135,245,444 (GRCm39) |
Y298H |
probably damaging |
Het |
| Ccdc66 |
A |
T |
14: 27,220,413 (GRCm39) |
W267R |
probably damaging |
Het |
| Cd81 |
A |
C |
7: 142,620,901 (GRCm39) |
K193N |
probably damaging |
Het |
| Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
| Cflar |
T |
C |
1: 58,771,469 (GRCm39) |
I199T |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,234,675 (GRCm39) |
S138P |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,452,707 (GRCm39) |
N2123S |
probably damaging |
Het |
| Crybg3 |
A |
G |
16: 59,350,803 (GRCm39) |
S846P |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,339,295 (GRCm39) |
I21M |
probably benign |
Het |
| Ddx41 |
T |
C |
13: 55,680,280 (GRCm39) |
T371A |
probably damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,306,418 (GRCm39) |
I425F |
possibly damaging |
Het |
| Dsc1 |
T |
C |
18: 20,234,943 (GRCm39) |
D237G |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,082,393 (GRCm39) |
|
probably benign |
Het |
| Epc1 |
T |
A |
18: 6,450,515 (GRCm39) |
D367V |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,144,532 (GRCm39) |
Y235C |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,941,329 (GRCm39) |
V453A |
probably damaging |
Het |
| Hras |
A |
G |
7: 140,772,783 (GRCm39) |
I24T |
possibly damaging |
Het |
| Hsf2 |
A |
T |
10: 57,388,124 (GRCm39) |
I423L |
probably benign |
Het |
| Igkv2-109 |
T |
A |
6: 68,280,054 (GRCm39) |
S92T |
probably benign |
Het |
| Kiss1r |
G |
A |
10: 79,754,550 (GRCm39) |
A15T |
possibly damaging |
Het |
| Krt79 |
T |
C |
15: 101,848,601 (GRCm39) |
S17G |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,053,762 (GRCm39) |
V953E |
probably damaging |
Het |
| Mybpc2 |
G |
A |
7: 44,154,829 (GRCm39) |
|
probably benign |
Het |
| Nadsyn1 |
T |
C |
7: 143,366,530 (GRCm39) |
E173G |
probably damaging |
Het |
| Neurl4 |
C |
T |
11: 69,801,219 (GRCm39) |
R1199W |
probably damaging |
Het |
| Otog |
T |
A |
7: 45,900,706 (GRCm39) |
V333E |
probably damaging |
Het |
| Pdcd2l |
A |
T |
7: 33,884,246 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
A |
G |
10: 13,003,616 (GRCm39) |
|
probably benign |
Het |
| Rbm34 |
T |
C |
8: 127,696,736 (GRCm39) |
N122S |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,964,512 (GRCm39) |
K917E |
possibly damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,427,157 (GRCm39) |
K315E |
possibly damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Sytl2 |
A |
G |
7: 90,022,113 (GRCm39) |
T183A |
probably benign |
Het |
| Tnik |
T |
A |
3: 28,708,367 (GRCm39) |
I1067N |
probably damaging |
Het |
| Tpd52l2 |
A |
G |
2: 181,154,861 (GRCm39) |
D192G |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,282,104 (GRCm39) |
I791N |
probably benign |
Het |
| Ttc28 |
A |
T |
5: 111,373,554 (GRCm39) |
N966Y |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,640,703 (GRCm39) |
D1356V |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,185,394 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lrrc14b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01521:Lrrc14b
|
APN |
13 |
74,511,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-04-20 |
Incidental Mutation