Incidental Mutation 'IGL02017:Lrrc14'
ID |
183780 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrc14
|
Ensembl Gene |
ENSMUSG00000033728 |
Gene Name |
leucine rich repeat containing 14 |
Synonyms |
E130306I01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL02017
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
76594820-76599297 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 76597942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 224
(R224L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115446
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000049956]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000155735]
[ENSMUST00000142610]
[ENSMUST00000155225]
[ENSMUST00000230544]
[ENSMUST00000230724]
|
AlphaFold |
Q8VC16 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036423
AA Change: R224L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000049466 Gene: ENSMUSG00000033728 AA Change: R224L
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 damaging
Transcript: ENSMUST00000127208
AA Change: R224L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114921 Gene: ENSMUSG00000033728 AA Change: R224L
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 damaging
Transcript: ENSMUST00000137649
AA Change: R224L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121982 Gene: ENSMUSG00000033728 AA Change: R224L
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 damaging
Transcript: ENSMUST00000155735
AA Change: R224L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000115446 Gene: ENSMUSG00000033728 AA Change: R224L
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: ENSMUST00000154531
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146855
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142506
|
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 |
probably benign
Transcript: ENSMUST00000155225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229360
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230544
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230724
|
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 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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
A |
T |
8: 25,271,775 (GRCm39) |
I544N |
probably benign |
Het |
Ago2 |
T |
C |
15: 72,998,366 (GRCm39) |
T271A |
probably benign |
Het |
Aox3 |
A |
C |
1: 58,160,151 (GRCm39) |
K111N |
probably damaging |
Het |
Arhgap39 |
G |
A |
15: 76,621,237 (GRCm39) |
R455C |
probably damaging |
Het |
Brcc3 |
A |
G |
X: 74,466,389 (GRCm39) |
D67G |
possibly damaging |
Het |
Crot |
T |
G |
5: 9,020,046 (GRCm39) |
|
probably benign |
Het |
Dipk1c |
A |
T |
18: 84,754,950 (GRCm39) |
D142V |
probably damaging |
Het |
Dusp5 |
A |
G |
19: 53,525,937 (GRCm39) |
H193R |
probably damaging |
Het |
Ect2 |
G |
A |
3: 27,176,193 (GRCm39) |
R644* |
probably null |
Het |
Epn3 |
A |
G |
11: 94,385,852 (GRCm39) |
S190P |
probably benign |
Het |
Fam3c |
A |
G |
6: 22,343,276 (GRCm39) |
M1T |
probably null |
Het |
Kif4 |
A |
G |
X: 99,681,960 (GRCm39) |
N197S |
probably benign |
Het |
Krt1c |
T |
C |
15: 101,724,939 (GRCm39) |
N224D |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,071,720 (GRCm39) |
H869R |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,393,724 (GRCm39) |
D864G |
probably damaging |
Het |
Map3k11 |
C |
T |
19: 5,747,651 (GRCm39) |
S603F |
possibly damaging |
Het |
Mxra7 |
A |
G |
11: 116,702,747 (GRCm39) |
|
probably null |
Het |
Myo5b |
C |
A |
18: 74,850,070 (GRCm39) |
D1139E |
probably damaging |
Het |
Nek9 |
T |
C |
12: 85,376,697 (GRCm39) |
Y228C |
probably damaging |
Het |
Nxph1 |
T |
C |
6: 9,247,743 (GRCm39) |
I238T |
probably damaging |
Het |
Or2r11 |
T |
C |
6: 42,437,758 (GRCm39) |
H65R |
probably benign |
Het |
Or5ac17 |
A |
G |
16: 59,036,310 (GRCm39) |
L222P |
probably damaging |
Het |
Or9i1 |
T |
A |
19: 13,839,595 (GRCm39) |
V146E |
possibly damaging |
Het |
Pdpn |
A |
G |
4: 142,997,140 (GRCm39) |
|
probably benign |
Het |
Plbd2 |
T |
C |
5: 120,626,623 (GRCm39) |
T329A |
probably damaging |
Het |
Ptpn6 |
T |
C |
6: 124,709,449 (GRCm39) |
D8G |
probably damaging |
Het |
Rad54l2 |
T |
C |
9: 106,631,239 (GRCm39) |
D16G |
possibly damaging |
Het |
Slc43a3 |
A |
G |
2: 84,768,585 (GRCm39) |
E68G |
probably damaging |
Het |
Snph |
G |
A |
2: 151,442,902 (GRCm39) |
R16C |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,555,560 (GRCm39) |
R28736* |
probably null |
Het |
Vmn1r18 |
G |
A |
6: 57,366,741 (GRCm39) |
A271V |
probably benign |
Het |
|
Other mutations in Lrrc14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R6609:Lrrc14
|
UTSW |
15 |
76,598,453 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2014-05-07 |