Incidental Mutation 'IGL03213:Lrrc14'
| ID |
413387 |
| 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 # |
IGL03213
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76594820-76599297 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76597983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 238
(S238P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115446
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000049956]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000155735]
[ENSMUST00000142610]
[ENSMUST00000155225]
[ENSMUST00000230724]
[ENSMUST00000230544]
|
| AlphaFold |
Q8VC16 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036423
AA Change: S238P
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049466
Gene: ENSMUSG00000033728
AA Change: S238P
| 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 |
possibly damaging
Transcript: ENSMUST00000127208
AA Change: S238P
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114921
Gene: ENSMUSG00000033728
AA Change: S238P
| 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 |
possibly damaging
Transcript: ENSMUST00000137649
AA Change: S238P
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121982
Gene: ENSMUSG00000033728
AA Change: S238P
| 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 |
possibly damaging
Transcript: ENSMUST00000155735
AA Change: S238P
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000115446
Gene: ENSMUSG00000033728
AA Change: S238P
| 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: ENSMUST00000146855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154531
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000229360
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230724
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230544
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
A |
T |
2: 22,831,971 (GRCm39) |
D447E |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,260,616 (GRCm39) |
V175A |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,279 (GRCm39) |
D429G |
possibly damaging |
Het |
| Arap2 |
T |
A |
5: 62,906,438 (GRCm39) |
T194S |
probably benign |
Het |
| Arih2 |
T |
C |
9: 108,484,546 (GRCm39) |
T422A |
probably damaging |
Het |
| Arl5b |
T |
A |
2: 15,074,676 (GRCm39) |
N52K |
probably damaging |
Het |
| Atg13 |
G |
A |
2: 91,515,512 (GRCm39) |
H227Y |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,253,748 (GRCm39) |
T164A |
possibly damaging |
Het |
| Cep192 |
T |
C |
18: 67,998,708 (GRCm39) |
V2074A |
probably damaging |
Het |
| Ces2c |
T |
C |
8: 105,574,672 (GRCm39) |
I43T |
probably benign |
Het |
| Chrm3 |
G |
A |
13: 9,928,220 (GRCm39) |
T272I |
probably benign |
Het |
| Cln8 |
A |
G |
8: 14,944,845 (GRCm39) |
Y53C |
probably damaging |
Het |
| Cwc27 |
T |
A |
13: 104,932,911 (GRCm39) |
|
probably benign |
Het |
| Cyp3a13 |
A |
T |
5: 137,892,529 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
G |
T |
7: 105,404,279 (GRCm39) |
N2754K |
probably damaging |
Het |
| Dclk1 |
A |
T |
3: 55,387,805 (GRCm39) |
K84* |
probably null |
Het |
| Ednra |
T |
C |
8: 78,446,848 (GRCm39) |
T77A |
probably benign |
Het |
| Epn2 |
T |
C |
11: 61,410,510 (GRCm39) |
N553D |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gm10784 |
T |
A |
13: 50,099,310 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2e2 |
T |
C |
8: 34,242,525 (GRCm39) |
F76L |
probably damaging |
Het |
| Hnrnpll |
A |
T |
17: 80,341,527 (GRCm39) |
V504E |
probably damaging |
Het |
| Ifitm2 |
A |
G |
7: 140,535,677 (GRCm39) |
V51A |
possibly damaging |
Het |
| Il16 |
C |
T |
7: 83,295,708 (GRCm39) |
E456K |
probably damaging |
Het |
| Lmod2 |
A |
T |
6: 24,603,615 (GRCm39) |
I197F |
possibly damaging |
Het |
| Map3k1 |
A |
G |
13: 111,885,426 (GRCm39) |
|
probably benign |
Het |
| Phf11d |
C |
A |
14: 59,586,797 (GRCm39) |
R210S |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,177,291 (GRCm39) |
N103S |
probably damaging |
Het |
| Rgsl1 |
A |
G |
1: 153,701,587 (GRCm39) |
V289A |
probably benign |
Het |
| Rp1l1 |
T |
A |
14: 64,265,864 (GRCm39) |
S483R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,739,273 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
T |
G |
5: 17,899,637 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
G |
T |
11: 87,458,184 (GRCm39) |
|
probably null |
Het |
| Sfmbt2 |
A |
G |
2: 10,409,385 (GRCm39) |
Y110C |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,061,933 (GRCm39) |
V328A |
possibly damaging |
Het |
| Smarca2 |
G |
A |
19: 26,601,375 (GRCm39) |
G31D |
probably damaging |
Het |
| Spmip1 |
G |
A |
6: 29,471,792 (GRCm39) |
M89I |
probably damaging |
Het |
| Tenm2 |
T |
G |
11: 35,914,157 (GRCm39) |
E2460A |
probably benign |
Het |
| Trim58 |
T |
A |
11: 58,541,993 (GRCm39) |
W318R |
probably benign |
Het |
| Ube3a |
C |
T |
7: 58,935,870 (GRCm39) |
Q585* |
probably null |
Het |
| Vmn2r17 |
T |
C |
5: 109,582,256 (GRCm39) |
|
probably null |
Het |
| Zfp647 |
A |
G |
15: 76,796,177 (GRCm39) |
V161A |
possibly 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 |
|
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 |
2016-08-02 |
Incidental Mutation