Incidental Mutation 'R6609:Lrrc14'
ID |
525851 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc14
|
Ensembl Gene |
ENSMUSG00000033728 |
Gene Name |
leucine rich repeat containing 14 |
Synonyms |
E130306I01Rik |
MMRRC Submission |
044732-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R6609 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76594820-76599297 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76598453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 363
(V363A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115446
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000049956]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000155735]
[ENSMUST00000142610]
[ENSMUST00000230724]
[ENSMUST00000155225]
[ENSMUST00000230544]
|
AlphaFold |
Q8VC16 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036423
AA Change: V363A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000049466 Gene: ENSMUSG00000033728 AA Change: V363A
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000036852
|
SMART Domains |
Protein: ENSMUSP00000044363 Gene: ENSMUSG00000033762
Domain | Start | End | E-Value | Type |
Pfam:Drc1-Sld2
|
4 |
132 |
2.8e-14 |
PFAM |
low complexity region
|
169 |
187 |
N/A |
INTRINSIC |
low complexity region
|
368 |
379 |
N/A |
INTRINSIC |
ZnF_C2HC
|
394 |
410 |
5.67e-5 |
SMART |
DEXDc
|
494 |
701 |
5.86e-28 |
SMART |
HELICc
|
736 |
831 |
1.48e-24 |
SMART |
Blast:DEXDc
|
902 |
1117 |
3e-46 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000049956
|
SMART Domains |
Protein: ENSMUSP00000061906 Gene: ENSMUSG00000033707
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
LRRNT
|
30 |
62 |
1.04e-2 |
SMART |
LRR
|
61 |
80 |
3.18e2 |
SMART |
LRR_TYP
|
81 |
104 |
2.99e-4 |
SMART |
LRR
|
106 |
128 |
3.87e1 |
SMART |
LRR_TYP
|
129 |
152 |
8.22e-2 |
SMART |
LRR_TYP
|
153 |
176 |
5.06e-2 |
SMART |
LRR
|
177 |
200 |
2.02e-1 |
SMART |
LRRCT
|
212 |
266 |
2e-10 |
SMART |
IGc2
|
280 |
360 |
1.02e-9 |
SMART |
transmembrane domain
|
409 |
431 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127208
AA Change: V363A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114921 Gene: ENSMUSG00000033728 AA Change: V363A
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136840
|
SMART Domains |
Protein: ENSMUSP00000119670 Gene: ENSMUSG00000033728
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137649
AA Change: V363A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121982 Gene: ENSMUSG00000033728 AA Change: V363A
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138132
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155735
AA Change: V363A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000115446 Gene: ENSMUSG00000033728 AA Change: V363A
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142610
|
SMART Domains |
Protein: ENSMUSP00000117780 Gene: ENSMUSG00000033728
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146855
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154531
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230724
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142506
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230544
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229360
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
100% (34/34) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
C |
T |
12: 118,892,497 (GRCm39) |
V421I |
probably damaging |
Het |
Bpifb3 |
T |
A |
2: 153,762,568 (GRCm39) |
|
probably null |
Het |
C1rl |
T |
C |
6: 124,485,583 (GRCm39) |
V318A |
probably benign |
Het |
Cacna1b |
C |
T |
2: 24,543,061 (GRCm39) |
V1264M |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,041,129 (GRCm39) |
D1551G |
probably benign |
Het |
Cdc42bpa |
T |
G |
1: 179,928,839 (GRCm39) |
|
probably null |
Het |
Cdc7 |
G |
A |
5: 107,120,924 (GRCm39) |
R182H |
probably benign |
Het |
Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
Cyth1 |
A |
T |
11: 118,061,686 (GRCm39) |
L309Q |
probably damaging |
Het |
Dnah6 |
G |
A |
6: 73,030,678 (GRCm39) |
T3378I |
possibly damaging |
Het |
Get4 |
A |
G |
5: 139,254,820 (GRCm39) |
|
probably benign |
Het |
Gm136 |
T |
A |
4: 34,746,526 (GRCm39) |
M162L |
probably benign |
Het |
Grik5 |
G |
T |
7: 24,714,951 (GRCm39) |
S681* |
probably null |
Het |
Hsf5 |
C |
T |
11: 87,526,779 (GRCm39) |
P484S |
probably damaging |
Het |
Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
Kl |
A |
T |
5: 150,912,427 (GRCm39) |
K725N |
probably benign |
Het |
Lama3 |
G |
A |
18: 12,646,735 (GRCm39) |
V144M |
probably damaging |
Het |
Mettl15 |
T |
C |
2: 108,967,687 (GRCm39) |
R200G |
probably null |
Het |
Mki67 |
T |
C |
7: 135,301,558 (GRCm39) |
T1159A |
possibly damaging |
Het |
Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
Ndufb5 |
C |
G |
3: 32,795,832 (GRCm39) |
T8R |
probably benign |
Het |
Or4f60 |
T |
C |
2: 111,902,509 (GRCm39) |
M140V |
probably benign |
Het |
Or6ae1 |
C |
A |
7: 139,742,476 (GRCm39) |
R129L |
probably benign |
Het |
Pde1a |
T |
A |
2: 79,736,484 (GRCm39) |
D15V |
probably damaging |
Het |
Plcg2 |
G |
A |
8: 118,294,909 (GRCm39) |
G191S |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,408,829 (GRCm39) |
T1895A |
probably damaging |
Het |
Pxdn |
T |
C |
12: 30,052,940 (GRCm39) |
V1039A |
probably benign |
Het |
Slc26a5 |
T |
C |
5: 22,024,717 (GRCm39) |
I456V |
possibly damaging |
Het |
Smco4 |
C |
T |
9: 15,456,031 (GRCm39) |
A39V |
probably damaging |
Het |
Tmem102 |
T |
A |
11: 69,695,940 (GRCm39) |
L40F |
probably damaging |
Het |
Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
Zfp985 |
A |
T |
4: 147,667,578 (GRCm39) |
M149L |
probably benign |
Het |
Zfp985 |
T |
C |
4: 147,668,124 (GRCm39) |
F331L |
probably damaging |
Het |
|
Other mutations in Lrrc14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02017:Lrrc14
|
APN |
15 |
76,597,942 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03213:Lrrc14
|
APN |
15 |
76,597,983 (GRCm39) |
missense |
possibly damaging |
0.95 |
Sojourn
|
UTSW |
15 |
76,597,646 (GRCm39) |
missense |
possibly damaging |
0.91 |
Sumo
|
UTSW |
15 |
76,597,765 (GRCm39) |
missense |
probably benign |
0.17 |
R0302:Lrrc14
|
UTSW |
15 |
76,598,552 (GRCm39) |
missense |
probably benign |
0.28 |
R2417:Lrrc14
|
UTSW |
15 |
76,597,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R3423:Lrrc14
|
UTSW |
15 |
76,597,318 (GRCm39) |
splice site |
probably null |
|
R3930:Lrrc14
|
UTSW |
15 |
76,597,765 (GRCm39) |
missense |
probably benign |
0.17 |
R3931:Lrrc14
|
UTSW |
15 |
76,597,765 (GRCm39) |
missense |
probably benign |
0.17 |
R4622:Lrrc14
|
UTSW |
15 |
76,600,540 (GRCm39) |
unclassified |
probably benign |
|
R4863:Lrrc14
|
UTSW |
15 |
76,597,562 (GRCm39) |
splice site |
probably null |
|
R5290:Lrrc14
|
UTSW |
15 |
76,598,143 (GRCm39) |
missense |
probably benign |
0.17 |
R5451:Lrrc14
|
UTSW |
15 |
76,598,173 (GRCm39) |
missense |
probably benign |
0.01 |
R5950:Lrrc14
|
UTSW |
15 |
76,599,510 (GRCm39) |
unclassified |
probably benign |
|
R6561:Lrrc14
|
UTSW |
15 |
76,597,646 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7341:Lrrc14
|
UTSW |
15 |
76,598,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R7638:Lrrc14
|
UTSW |
15 |
76,598,173 (GRCm39) |
missense |
probably benign |
0.01 |
R8046:Lrrc14
|
UTSW |
15 |
76,598,731 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8223:Lrrc14
|
UTSW |
15 |
76,598,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R8393:Lrrc14
|
UTSW |
15 |
76,598,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R8707:Lrrc14
|
UTSW |
15 |
76,597,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCAGGCAGGCTGGATCAAC -3'
(R):5'- TGTACCACAGAGTCCCGAAG -3'
Sequencing Primer
(F):5'- AGGCTGGATCAACTGCTCAG -3'
(R):5'- GAGTCCCGAAGCAGTTCTTTAAGTC -3'
|
Posted On |
2018-06-22 |