Incidental Mutation 'IGL01717:Lrrc39'
| ID |
104989 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrc39
|
| Ensembl Gene |
ENSMUSG00000027961 |
| Gene Name |
leucine rich repeat containing 39 |
| Synonyms |
2010005E21Rik, Myomasp, 9430028I06Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.517)
|
| Stock # |
IGL01717
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
116356622-116376783 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 116373146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029573]
[ENSMUST00000041524]
[ENSMUST00000183638]
[ENSMUST00000184963]
|
| AlphaFold |
Q8BGI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029573
|
| SMART Domains |
Protein: ENSMUSP00000029573
Gene: ENSMUSG00000027961
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
105 |
127 |
1.15e1 |
SMART |
|
LRR_TYP
|
128 |
151 |
7.26e-3 |
SMART |
|
LRR
|
175 |
197 |
6.58e0 |
SMART |
|
LRR
|
198 |
220 |
1e1 |
SMART |
|
LRR
|
221 |
243 |
7.16e0 |
SMART |
|
LRR
|
244 |
267 |
6.58e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041524
|
| SMART Domains |
Protein: ENSMUSP00000047320
Gene: ENSMUSG00000033439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-TRM13_CCCH
|
17 |
45 |
7.2e-17 |
PFAM |
|
Pfam:zf-U11-48K
|
56 |
80 |
3.4e-12 |
PFAM |
|
Pfam:TRM13
|
165 |
469 |
7e-96 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156161
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183638
|
| SMART Domains |
Protein: ENSMUSP00000139223
Gene: ENSMUSG00000033439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-TRM13_CCCH
|
16 |
46 |
1.4e-17 |
PFAM |
|
Pfam:zf-U11-48K
|
55 |
81 |
1.2e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184963
|
| SMART Domains |
Protein: ENSMUSP00000138868
Gene: ENSMUSG00000033439
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-TRM13_CCCH
|
16 |
46 |
2.9e-17 |
PFAM |
|
Pfam:zf-U11-48K
|
55 |
81 |
2.3e-12 |
PFAM |
|
Pfam:TRM13
|
165 |
285 |
3.4e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199439
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aif1 |
A |
T |
17: 35,390,531 (GRCm39) |
M73K |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,910,377 (GRCm39) |
I110V |
probably benign |
Het |
| Aoah |
T |
C |
13: 21,184,147 (GRCm39) |
S404P |
probably damaging |
Het |
| Bhlhe41 |
A |
G |
6: 145,808,763 (GRCm39) |
S350P |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,088,885 (GRCm39) |
S4112G |
probably benign |
Het |
| Capn12 |
A |
G |
7: 28,588,530 (GRCm39) |
D540G |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,807,179 (GRCm39) |
Y2012H |
possibly damaging |
Het |
| Col1a1 |
A |
G |
11: 94,841,603 (GRCm39) |
T1284A |
unknown |
Het |
| Col24a1 |
T |
C |
3: 145,230,018 (GRCm39) |
|
probably benign |
Het |
| Col4a5 |
T |
A |
X: 140,422,234 (GRCm39) |
V1070D |
unknown |
Het |
| Col6a5 |
T |
C |
9: 105,817,472 (GRCm39) |
T280A |
unknown |
Het |
| Dicer1 |
A |
T |
12: 104,669,046 (GRCm39) |
L1212* |
probably null |
Het |
| Gigyf1 |
T |
A |
5: 137,523,953 (GRCm39) |
V1041E |
probably damaging |
Het |
| Gm4978 |
C |
T |
9: 69,358,155 (GRCm39) |
|
probably benign |
Het |
| Gnai1 |
A |
G |
5: 18,496,459 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
C |
T |
16: 36,735,864 (GRCm39) |
R1704* |
probably null |
Het |
| Incenp |
A |
G |
19: 9,870,629 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,017,113 (GRCm39) |
K319E |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,079,879 (GRCm39) |
D83G |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,418,938 (GRCm39) |
I732T |
probably damaging |
Het |
| Pacs1 |
T |
A |
19: 5,218,000 (GRCm39) |
K130N |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,684,702 (GRCm39) |
|
probably null |
Het |
| Pole2 |
T |
C |
12: 69,260,623 (GRCm39) |
M186V |
probably damaging |
Het |
| Rwdd4a |
T |
C |
8: 47,997,140 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,357,510 (GRCm39) |
Y161H |
probably damaging |
Het |
| Sf3a2 |
C |
T |
10: 80,640,526 (GRCm39) |
Q446* |
probably null |
Het |
| Slc26a3 |
T |
C |
12: 31,513,476 (GRCm39) |
I466T |
probably benign |
Het |
| Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,247,335 (GRCm39) |
|
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,802,963 (GRCm39) |
I756F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
|
| Other mutations in Lrrc39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Lrrc39
|
APN |
3 |
116,364,630 (GRCm39) |
splice site |
probably benign |
|
|
IGL01017:Lrrc39
|
APN |
3 |
116,364,500 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01728:Lrrc39
|
APN |
3 |
116,373,149 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02208:Lrrc39
|
APN |
3 |
116,371,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Lrrc39
|
APN |
3 |
116,371,995 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0279:Lrrc39
|
UTSW |
3 |
116,371,952 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1351:Lrrc39
|
UTSW |
3 |
116,359,469 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1436:Lrrc39
|
UTSW |
3 |
116,373,293 (GRCm39) |
splice site |
probably null |
|
|
R1641:Lrrc39
|
UTSW |
3 |
116,364,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1716:Lrrc39
|
UTSW |
3 |
116,373,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2199:Lrrc39
|
UTSW |
3 |
116,364,610 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2410:Lrrc39
|
UTSW |
3 |
116,374,899 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4696:Lrrc39
|
UTSW |
3 |
116,363,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Lrrc39
|
UTSW |
3 |
116,362,515 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5076:Lrrc39
|
UTSW |
3 |
116,373,189 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6152:Lrrc39
|
UTSW |
3 |
116,364,624 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7124:Lrrc39
|
UTSW |
3 |
116,359,562 (GRCm39) |
missense |
probably benign |
|
|
R8855:Lrrc39
|
UTSW |
3 |
116,363,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Lrrc39
|
UTSW |
3 |
116,363,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8941:Lrrc39
|
UTSW |
3 |
116,359,496 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9480:Lrrc39
|
UTSW |
3 |
116,359,475 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0028:Lrrc39
|
UTSW |
3 |
116,359,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation