Incidental Mutation 'R3930:Lrrc14'
| ID |
308443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc14
|
| Ensembl Gene |
ENSMUSG00000033728 |
| Gene Name |
leucine rich repeat containing 14 |
| Synonyms |
E130306I01Rik |
| MMRRC Submission |
040917-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R3930 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76594820-76599297 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76597765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 165
(V165A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036423]
[ENSMUST00000036852]
[ENSMUST00000049956]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000155735]
[ENSMUST00000230544]
[ENSMUST00000155225]
[ENSMUST00000142610]
[ENSMUST00000230724]
|
| AlphaFold |
Q8VC16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036423
AA Change: V165A
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000049466
Gene: ENSMUSG00000033728
AA Change: V165A
| 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: V165A
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114921
Gene: ENSMUSG00000033728
AA Change: V165A
| 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
AA Change: V165A
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000119670
Gene: ENSMUSG00000033728
AA Change: V165A
| 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: V165A
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000121982
Gene: ENSMUSG00000033728
AA Change: V165A
| 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: V165A
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000115446
Gene: ENSMUSG00000033728
AA Change: V165A
| 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: ENSMUST00000230544
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155225
|
| 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: ENSMUST00000230724
|
| Meta Mutation Damage Score |
0.1063 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (58/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
C |
T |
4: 144,396,698 (GRCm39) |
E345K |
probably damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,057,242 (GRCm39) |
N400S |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Crhr1 |
T |
A |
11: 104,044,377 (GRCm39) |
S22T |
probably benign |
Het |
| Cyp4a10 |
G |
T |
4: 115,381,980 (GRCm39) |
V221L |
probably benign |
Het |
| D1Pas1 |
G |
T |
1: 186,700,477 (GRCm39) |
W135C |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,285,701 (GRCm39) |
L620P |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
T |
C |
1: 161,911,699 (GRCm39) |
D66G |
probably damaging |
Het |
| Fzd10 |
G |
A |
5: 128,679,476 (GRCm39) |
V399M |
probably damaging |
Het |
| Gm10801 |
T |
A |
2: 98,494,361 (GRCm39) |
I146N |
possibly damaging |
Het |
| Gm525 |
T |
A |
11: 88,965,830 (GRCm39) |
|
probably null |
Het |
| Gpr37l1 |
T |
C |
1: 135,089,100 (GRCm39) |
I322V |
probably benign |
Het |
| Grid2ip |
T |
G |
5: 143,371,794 (GRCm39) |
S679R |
probably damaging |
Het |
| Gyg1 |
A |
T |
3: 20,209,189 (GRCm39) |
S15T |
probably benign |
Het |
| Hace1 |
G |
A |
10: 45,587,604 (GRCm39) |
C901Y |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hp1bp3 |
C |
T |
4: 137,949,018 (GRCm39) |
A27V |
probably benign |
Het |
| Hsf5 |
A |
G |
11: 87,522,508 (GRCm39) |
Y367C |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,924,716 (GRCm39) |
I1034V |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,371,802 (GRCm39) |
T1159A |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrrc45 |
C |
T |
11: 120,609,503 (GRCm39) |
A422V |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,651,664 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
T |
C |
17: 12,454,880 (GRCm39) |
H1370R |
possibly damaging |
Het |
| Mpo |
A |
G |
11: 87,691,866 (GRCm39) |
Y433C |
probably damaging |
Het |
| Nfkbil1 |
G |
T |
17: 35,439,932 (GRCm39) |
Q194K |
probably benign |
Het |
| Nin |
C |
T |
12: 70,125,016 (GRCm39) |
G102E |
probably damaging |
Het |
| Nmt1 |
T |
C |
11: 102,943,059 (GRCm39) |
V138A |
probably benign |
Het |
| Optc |
T |
A |
1: 133,828,920 (GRCm39) |
R176* |
probably null |
Het |
| Or10aa3 |
A |
T |
1: 173,878,076 (GRCm39) |
I46F |
probably damaging |
Het |
| Or4c110 |
A |
G |
2: 88,832,377 (GRCm39) |
F85S |
probably benign |
Het |
| Or52ae9 |
A |
C |
7: 103,389,794 (GRCm39) |
Y218D |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,897,147 (GRCm39) |
F94L |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,066,601 (GRCm39) |
N72K |
possibly damaging |
Het |
| Plxna2 |
G |
A |
1: 194,477,218 (GRCm39) |
A1243T |
probably benign |
Het |
| Rin1 |
G |
T |
19: 5,103,002 (GRCm39) |
L430F |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,070,944 (GRCm39) |
S37T |
possibly damaging |
Het |
| Rrp36 |
G |
T |
17: 46,983,732 (GRCm39) |
Q27K |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
| Sfrp5 |
T |
G |
19: 42,190,257 (GRCm39) |
Y65S |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,023,820 (GRCm39) |
L472I |
probably benign |
Het |
| Slc35d3 |
T |
C |
10: 19,724,605 (GRCm39) |
E417G |
probably damaging |
Het |
| Sumf2 |
A |
G |
5: 129,878,820 (GRCm39) |
D52G |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,781,447 (GRCm39) |
N801S |
possibly damaging |
Het |
| Taf7l2 |
G |
T |
10: 115,948,540 (GRCm39) |
Q329K |
possibly damaging |
Het |
| Tcstv2c |
G |
A |
13: 120,616,368 (GRCm39) |
C69Y |
probably damaging |
Het |
| Tmem38b |
T |
C |
4: 53,854,398 (GRCm39) |
F210S |
probably damaging |
Het |
| Tnks |
T |
A |
8: 35,407,966 (GRCm39) |
H254L |
probably damaging |
Het |
| Trappc10 |
A |
T |
10: 78,046,237 (GRCm39) |
V451E |
probably benign |
Het |
| Trim43a |
A |
T |
9: 88,465,131 (GRCm39) |
I153F |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,572,683 (GRCm39) |
N213S |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,746,951 (GRCm39) |
D830G |
probably benign |
Het |
| Uqcc3 |
C |
T |
19: 8,858,069 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
A |
6: 124,002,938 (GRCm39) |
M116K |
probably benign |
Het |
| Zscan12 |
A |
G |
13: 21,552,800 (GRCm39) |
Q208R |
probably benign |
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 |
|
|
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'- TCTGTACAAAGTAGCTGGGAGG -3'
(R):5'- ACAGCCTGCATCTAAAAGCTG -3'
Sequencing Primer
(F):5'- AGGGATGCTGGCCTTTCTCC -3'
(R):5'- CCTGCATCTAAAAGCTGTAGCAGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation