Incidental Mutation 'R3083:Lrrc14b'
| ID |
264075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc14b
|
| Ensembl Gene |
ENSMUSG00000021579 |
| Gene Name |
leucine rich repeat containing 14B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R3083 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
74507701-74512119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74511337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 248
(D248N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022063]
[ENSMUST00000022064]
[ENSMUST00000159931]
[ENSMUST00000160021]
[ENSMUST00000162672]
|
| AlphaFold |
Q3UJB3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022063
|
| SMART Domains |
Protein: ENSMUSP00000022063
Gene: ENSMUSG00000021578
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
78 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022064
AA Change: D248N
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022064
Gene: ENSMUSG00000021579
AA Change: D248N
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1a4ya_
|
208 |
417 |
8e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159931
|
| SMART Domains |
Protein: ENSMUSP00000124009
Gene: ENSMUSG00000021578
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
45 |
N/A |
INTRINSIC |
|
coiled coil region
|
78 |
140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160021
|
| SMART Domains |
Protein: ENSMUSP00000124193
Gene: ENSMUSG00000021578
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
45 |
N/A |
INTRINSIC |
|
coiled coil region
|
78 |
140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162672
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,859,576 (GRCm39) |
V341A |
possibly damaging |
Het |
| Armc2 |
T |
C |
10: 41,842,726 (GRCm39) |
D359G |
probably damaging |
Het |
| Cdh6 |
T |
C |
15: 13,044,838 (GRCm39) |
D428G |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,813,363 (GRCm39) |
N1441D |
probably benign |
Het |
| Fbln1 |
T |
G |
15: 85,149,454 (GRCm39) |
I617S |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm15446 |
A |
G |
5: 110,091,158 (GRCm39) |
N470S |
possibly damaging |
Het |
| Grin3a |
G |
A |
4: 49,665,243 (GRCm39) |
R1131W |
probably benign |
Het |
| H2bc27 |
A |
G |
11: 58,839,802 (GRCm39) |
K13E |
probably benign |
Het |
| Incenp |
T |
A |
19: 9,861,143 (GRCm39) |
M480L |
unknown |
Het |
| Lrp1b |
A |
T |
2: 40,490,336 (GRCm39) |
M275K |
probably damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,129,588 (GRCm39) |
F885S |
probably benign |
Het |
| Or12d2 |
T |
C |
17: 37,625,086 (GRCm39) |
N63S |
probably damaging |
Het |
| Or4c122 |
A |
C |
2: 89,079,345 (GRCm39) |
V231G |
probably damaging |
Het |
| Or8b52 |
A |
G |
9: 38,576,912 (GRCm39) |
V76A |
probably damaging |
Het |
| Plcl2 |
T |
A |
17: 50,994,772 (GRCm39) |
N1080K |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,936,466 (GRCm39) |
S10T |
probably benign |
Het |
| Rtca |
G |
A |
3: 116,301,674 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,129,981 (GRCm39) |
F1278S |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,955,928 (GRCm39) |
D948G |
probably benign |
Het |
| Smu1 |
T |
C |
4: 40,745,567 (GRCm39) |
D251G |
probably damaging |
Het |
| Ssh3 |
C |
T |
19: 4,312,587 (GRCm39) |
R586H |
probably benign |
Het |
| Tomm40l |
A |
T |
1: 171,048,780 (GRCm39) |
L78H |
probably damaging |
Het |
| Vmn2r4 |
A |
G |
3: 64,296,788 (GRCm39) |
S666P |
probably damaging |
Het |
|
| Other mutations in Lrrc14b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Lrrc14b
|
APN |
13 |
74,509,078 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01521:Lrrc14b
|
APN |
13 |
74,511,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03156:Lrrc14b
|
APN |
13 |
74,512,023 (GRCm39) |
missense |
probably benign |
|
|
R0457:Lrrc14b
|
UTSW |
13 |
74,509,279 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1631:Lrrc14b
|
UTSW |
13 |
74,509,373 (GRCm39) |
splice site |
probably null |
|
|
R1741:Lrrc14b
|
UTSW |
13 |
74,511,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Lrrc14b
|
UTSW |
13 |
74,511,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2047:Lrrc14b
|
UTSW |
13 |
74,511,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2149:Lrrc14b
|
UTSW |
13 |
74,511,876 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3838:Lrrc14b
|
UTSW |
13 |
74,511,664 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3892:Lrrc14b
|
UTSW |
13 |
74,511,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5748:Lrrc14b
|
UTSW |
13 |
74,511,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6508:Lrrc14b
|
UTSW |
13 |
74,511,337 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6663:Lrrc14b
|
UTSW |
13 |
74,509,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6687:Lrrc14b
|
UTSW |
13 |
74,508,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7309:Lrrc14b
|
UTSW |
13 |
74,511,321 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7472:Lrrc14b
|
UTSW |
13 |
74,511,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Lrrc14b
|
UTSW |
13 |
74,508,892 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7629:Lrrc14b
|
UTSW |
13 |
74,509,283 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7695:Lrrc14b
|
UTSW |
13 |
74,511,297 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8169:Lrrc14b
|
UTSW |
13 |
74,511,286 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8824:Lrrc14b
|
UTSW |
13 |
74,512,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8852:Lrrc14b
|
UTSW |
13 |
74,509,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8860:Lrrc14b
|
UTSW |
13 |
74,509,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9010:Lrrc14b
|
UTSW |
13 |
74,509,151 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9548:Lrrc14b
|
UTSW |
13 |
74,511,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTGTACCCAATTCTCTGAG -3'
(R):5'- AACTTTGACATGGTGGTGCAG -3'
Sequencing Primer
(F):5'- CTGAGACTTACCTAAGCAATGTTTGG -3'
(R):5'- ATTAGGCCCAGCACCTCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation