Incidental Mutation 'R6561:Lrrc14'
| ID |
523148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc14
|
| Ensembl Gene |
ENSMUSG00000033728 |
| Gene Name |
leucine rich repeat containing 14 |
| Synonyms |
E130306I01Rik |
| MMRRC Submission |
044685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R6561 (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 A
at 76597646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 125
(D125E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000049956]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000155735]
[ENSMUST00000142610]
[ENSMUST00000230544]
[ENSMUST00000230724]
[ENSMUST00000155225]
|
| AlphaFold |
Q8VC16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036423
AA Change: D125E
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000049466
Gene: ENSMUSG00000033728
AA Change: D125E
| 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: D125E
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114921
Gene: ENSMUSG00000033728
AA Change: D125E
| 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 |
possibly damaging
Transcript: ENSMUST00000136840
AA Change: D125E
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119670
Gene: ENSMUSG00000033728
AA Change: D125E
| 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: D125E
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121982
Gene: ENSMUSG00000033728
AA Change: D125E
| 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: D125E
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000115446
Gene: ENSMUSG00000033728
AA Change: D125E
| 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: ENSMUST00000142506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229360
|
| 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: ENSMUST00000230544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146855
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155225
|
| Meta Mutation Damage Score |
0.1048 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
| Validation Efficiency |
97% (30/31) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,977,825 (GRCm39) |
I468F |
probably benign |
Het |
| Ahsa2 |
T |
A |
11: 23,441,036 (GRCm39) |
I202F |
possibly damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,505,919 (GRCm39) |
V639A |
probably damaging |
Het |
| Cdh12 |
A |
G |
15: 21,492,680 (GRCm39) |
Y233C |
probably damaging |
Het |
| Dchs2 |
G |
T |
3: 83,036,476 (GRCm39) |
V408F |
probably benign |
Het |
| Dnmt3c |
T |
A |
2: 153,561,950 (GRCm39) |
L551Q |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,578,365 (GRCm39) |
F746S |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,732,149 (GRCm39) |
R157C |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ier3ip1 |
T |
A |
18: 77,027,344 (GRCm39) |
S58T |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,135,504 (GRCm39) |
V1809A |
probably damaging |
Het |
| Kif22 |
T |
A |
7: 126,630,225 (GRCm39) |
N437I |
probably benign |
Het |
| Klri1 |
A |
G |
6: 129,693,964 (GRCm39) |
V41A |
probably benign |
Het |
| Nek10 |
A |
T |
14: 14,828,448 (GRCm38) |
N90I |
possibly damaging |
Het |
| Nostrin |
G |
A |
2: 69,011,201 (GRCm39) |
A331T |
probably benign |
Het |
| Or4k2 |
T |
C |
14: 50,423,775 (GRCm39) |
K300E |
probably damaging |
Het |
| Or5b109 |
A |
G |
19: 13,212,394 (GRCm39) |
Y260C |
probably damaging |
Het |
| Or8b12i |
T |
C |
9: 20,082,073 (GRCm39) |
T265A |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,333,960 (GRCm39) |
V223A |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Skic3 |
T |
A |
13: 76,298,638 (GRCm39) |
S1115T |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,765,300 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,314,496 (GRCm39) |
I772T |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,797,954 (GRCm39) |
N1927S |
probably benign |
Het |
| Tab1 |
T |
C |
15: 80,033,031 (GRCm39) |
V105A |
probably benign |
Het |
| Trbv15 |
A |
T |
6: 41,118,414 (GRCm39) |
T57S |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,886,826 (GRCm39) |
I146F |
probably damaging |
Het |
| Vmn2r39 |
T |
A |
7: 9,018,092 (GRCm39) |
Y748F |
probably damaging |
Het |
| Zfp493 |
T |
A |
13: 67,934,338 (GRCm39) |
V65D |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGATCCCCTGAGTTGTGG -3'
(R):5'- TACGCATGGGTAGATCCTCAG -3'
Sequencing Primer
(F):5'- AAGATCCCCTGAGTTGTGGTTCTG -3'
(R):5'- TTTGGAGGGCCTCACGAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation