Incidental Mutation 'R3423:Lrrc14'
ID |
267134 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc14
|
Ensembl Gene |
ENSMUSG00000033728 |
Gene Name |
leucine rich repeat containing 14 |
Synonyms |
E130306I01Rik |
MMRRC Submission |
040641-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R3423 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76594820-76599297 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 76597318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000049956]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000155735]
[ENSMUST00000142610]
[ENSMUST00000230724]
[ENSMUST00000230544]
[ENSMUST00000155225]
|
AlphaFold |
Q8VC16 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036423
AA Change: L76Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000049466 Gene: ENSMUSG00000033728 AA Change: L76Q
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 null
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: L76Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000114921 Gene: ENSMUSG00000033728 AA Change: L76Q
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 damaging
Transcript: ENSMUST00000136840
AA Change: L76Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000119670 Gene: ENSMUSG00000033728 AA Change: L76Q
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: L76Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000121982 Gene: ENSMUSG00000033728 AA Change: L76Q
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: L76Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000115446 Gene: ENSMUSG00000033728 AA Change: L76Q
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 damaging
Transcript: ENSMUST00000142610
AA Change: L76Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117780 Gene: ENSMUSG00000033728 AA Change: L76Q
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: ENSMUST00000154531
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142506
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146855
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230724
|
Predicted Effect |
probably null
Transcript: ENSMUST00000230544
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229360
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155225
|
Meta Mutation Damage Score |
0.1412 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (38/38) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap8 |
A |
G |
17: 32,535,429 (GRCm39) |
F195S |
possibly damaging |
Het |
Aldh3a1 |
G |
A |
11: 61,106,362 (GRCm39) |
A246T |
probably damaging |
Het |
Caskin1 |
T |
A |
17: 24,718,539 (GRCm39) |
N331K |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,491,562 (GRCm39) |
S644N |
possibly damaging |
Het |
Csmd3 |
A |
T |
15: 47,710,648 (GRCm39) |
D1646E |
probably damaging |
Het |
Cyp4a12a |
A |
C |
4: 115,184,471 (GRCm39) |
K282T |
probably benign |
Het |
Dtnb |
C |
T |
12: 3,641,962 (GRCm39) |
R42* |
probably null |
Het |
Dyrk3 |
A |
G |
1: 131,057,219 (GRCm39) |
I318T |
probably damaging |
Het |
Fhip2b |
G |
A |
14: 70,824,025 (GRCm39) |
T535M |
probably damaging |
Het |
Gm11110 |
T |
C |
17: 57,410,435 (GRCm39) |
|
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,792 (GRCm39) |
|
noncoding transcript |
Het |
Igfn1 |
A |
G |
1: 135,926,379 (GRCm39) |
S24P |
probably benign |
Het |
Inpp4b |
A |
G |
8: 82,678,890 (GRCm39) |
M307V |
possibly damaging |
Het |
Ism2 |
T |
C |
12: 87,333,871 (GRCm39) |
N58S |
probably benign |
Het |
Kmt2a |
A |
C |
9: 44,731,394 (GRCm39) |
|
probably benign |
Het |
Limk1 |
A |
G |
5: 134,701,523 (GRCm39) |
|
probably null |
Het |
Mapt |
C |
T |
11: 104,189,548 (GRCm39) |
R189* |
probably null |
Het |
Meltf |
C |
T |
16: 31,715,343 (GRCm39) |
R679* |
probably null |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Mug2 |
T |
C |
6: 122,024,465 (GRCm39) |
|
probably benign |
Het |
Myo15a |
G |
A |
11: 60,401,126 (GRCm39) |
|
probably null |
Het |
Nup98 |
T |
C |
7: 101,834,084 (GRCm39) |
T293A |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,957,504 (GRCm39) |
Y278F |
probably damaging |
Het |
Or12d12 |
T |
A |
17: 37,610,761 (GRCm39) |
D184V |
probably benign |
Het |
Phactr4 |
A |
C |
4: 132,097,058 (GRCm39) |
D496E |
probably benign |
Het |
Pramel6 |
T |
A |
2: 87,341,140 (GRCm39) |
|
probably null |
Het |
Ptprq |
C |
T |
10: 107,418,337 (GRCm39) |
A1680T |
probably damaging |
Het |
Retnlb |
T |
A |
16: 48,639,008 (GRCm39) |
C70S |
probably damaging |
Het |
Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
Sez6l |
T |
C |
5: 112,574,615 (GRCm39) |
D875G |
probably damaging |
Het |
Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
Slc36a3 |
G |
T |
11: 55,033,607 (GRCm39) |
T137K |
probably benign |
Het |
Sos2 |
T |
C |
12: 69,650,327 (GRCm39) |
N865D |
probably damaging |
Het |
Sp9 |
G |
A |
2: 73,104,315 (GRCm39) |
A290T |
probably benign |
Het |
Spg11 |
C |
T |
2: 121,901,534 (GRCm39) |
V1469I |
probably benign |
Het |
Unc13c |
G |
T |
9: 73,837,935 (GRCm39) |
A972D |
possibly damaging |
Het |
Vwa3a |
T |
C |
7: 120,398,334 (GRCm39) |
L945P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTGTGTTCCTCAGCACGC -3'
(R):5'- GGGAGCTCTTTCTGATCTCAG -3'
Sequencing Primer
(F):5'- TCAGGTCCTTCAGTGCCAG -3'
(R):5'- GAACCACAACTCAGGGGATCTTC -3'
|
Posted On |
2015-02-18 |