Incidental Mutation 'R6687:Lrrc14b'
| ID |
527839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc14b
|
| Ensembl Gene |
ENSMUSG00000021579 |
| Gene Name |
leucine rich repeat containing 14B |
| Synonyms |
|
| MMRRC Submission |
044805-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
74507701-74512119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74508881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 509
(M509V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022063]
[ENSMUST00000022064]
[ENSMUST00000159931]
[ENSMUST00000160021]
[ENSMUST00000162376]
[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 |
probably benign
Transcript: ENSMUST00000022064
AA Change: M509V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022064
Gene: ENSMUSG00000021579
AA Change: M509V
| 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: ENSMUST00000162376
|
| SMART Domains |
Protein: ENSMUSP00000123805
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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223491
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,248,392 (GRCm39) |
V688A |
probably benign |
Het |
| AI661453 |
A |
G |
17: 47,777,927 (GRCm39) |
|
probably benign |
Het |
| Atp6ap1l |
A |
G |
13: 91,034,842 (GRCm39) |
F180S |
probably benign |
Het |
| Cfd |
G |
A |
10: 79,727,553 (GRCm39) |
V77M |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,422,764 (GRCm39) |
L1151H |
probably damaging |
Het |
| Dennd3 |
G |
A |
15: 73,428,215 (GRCm39) |
V854M |
possibly damaging |
Het |
| Dlg5 |
C |
T |
14: 24,240,441 (GRCm39) |
R247Q |
probably damaging |
Het |
| Fam3c |
G |
C |
6: 22,328,669 (GRCm39) |
P53A |
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,574,619 (GRCm39) |
N302D |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,620,784 (GRCm39) |
V1142A |
probably benign |
Het |
| Ighv9-3 |
G |
A |
12: 114,104,544 (GRCm39) |
S40F |
probably damaging |
Het |
| Insr |
C |
T |
8: 3,248,111 (GRCm39) |
R478H |
probably benign |
Het |
| Kcna2 |
C |
A |
3: 107,012,343 (GRCm39) |
S308Y |
probably damaging |
Het |
| Larp1 |
A |
G |
11: 57,948,156 (GRCm39) |
D985G |
probably damaging |
Het |
| Loxl3 |
A |
T |
6: 83,027,645 (GRCm39) |
H729L |
probably damaging |
Het |
| Lrrc8e |
A |
G |
8: 4,284,798 (GRCm39) |
Y341C |
probably damaging |
Het |
| Mettl18 |
A |
G |
1: 163,824,369 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mup12 |
T |
C |
4: 60,697,308 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
T |
C |
11: 75,563,027 (GRCm39) |
S1020P |
probably benign |
Het |
| Or3a4 |
C |
A |
11: 73,945,210 (GRCm39) |
R125L |
probably damaging |
Het |
| Phkb |
T |
C |
8: 86,756,175 (GRCm39) |
I823T |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rpap2 |
T |
C |
5: 107,751,496 (GRCm39) |
|
probably null |
Het |
| Rpl38 |
T |
C |
11: 114,559,594 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,872,508 (GRCm39) |
F516L |
probably benign |
Het |
| Slc51a |
A |
T |
16: 32,298,543 (GRCm39) |
D71E |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,045,076 (GRCm39) |
E470G |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 100,000,266 (GRCm39) |
H1811N |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 177,996,753 (GRCm39) |
C1150Y |
probably damaging |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Wdr83 |
C |
T |
8: 85,806,778 (GRCm39) |
V101I |
probably benign |
Het |
| Wnt3 |
G |
T |
11: 103,703,411 (GRCm39) |
R298L |
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 |
|
R3083:Lrrc14b
|
UTSW |
13 |
74,511,337 (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 |
|
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'- CTGGCTTCCTCTTAGAGCAC -3'
(R):5'- ACCCTCAGGATGAACTGTCAG -3'
Sequencing Primer
(F):5'- TTCCTCTTAGAGCACGTAACGAG -3'
(R):5'- CTCAGGATGAACTGTCAGTGTCC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation