Incidental Mutation 'IGL02208:Lrrc39'
| ID |
284604 |
| 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: 0.511)
|
| Stock # |
IGL02208
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
116356622-116376783 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116371923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 230
(Q230L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029573]
[ENSMUST00000041524]
[ENSMUST00000183638]
[ENSMUST00000184963]
|
| AlphaFold |
Q8BGI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029573
AA Change: Q230L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029573
Gene: ENSMUSG00000027961
AA Change: Q230L
| 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 |
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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200361
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,950,772 (GRCm39) |
Y898H |
probably damaging |
Het |
| Abr |
T |
C |
11: 76,346,471 (GRCm39) |
T484A |
probably damaging |
Het |
| Ahsg |
G |
A |
16: 22,711,060 (GRCm39) |
V66I |
possibly damaging |
Het |
| Arhgef5 |
T |
G |
6: 43,252,064 (GRCm39) |
D938E |
probably benign |
Het |
| Asap1 |
T |
A |
15: 63,993,882 (GRCm39) |
E731V |
probably damaging |
Het |
| Cdca2 |
C |
T |
14: 67,950,589 (GRCm39) |
R114Q |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,065,899 (GRCm39) |
I368T |
probably benign |
Het |
| Dse |
T |
A |
10: 34,028,433 (GRCm39) |
M886L |
probably benign |
Het |
| Efcab11 |
A |
G |
12: 99,820,861 (GRCm39) |
|
probably benign |
Het |
| Eri2 |
G |
A |
7: 119,385,158 (GRCm39) |
P448S |
probably benign |
Het |
| Iffo1 |
A |
G |
6: 125,122,329 (GRCm39) |
D37G |
possibly damaging |
Het |
| Macrod2 |
C |
A |
2: 142,216,196 (GRCm39) |
S443Y |
possibly damaging |
Het |
| Map4 |
T |
A |
9: 109,807,938 (GRCm39) |
M1K |
probably null |
Het |
| Misfa |
T |
C |
7: 46,633,572 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
G |
A |
11: 67,142,760 (GRCm39) |
A974T |
possibly damaging |
Het |
| Npm3 |
T |
C |
19: 45,737,299 (GRCm39) |
T72A |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,415 (GRCm39) |
F175S |
probably damaging |
Het |
| P3h4 |
T |
C |
11: 100,304,901 (GRCm39) |
N162S |
probably damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,478,894 (GRCm39) |
T2118N |
probably benign |
Het |
| Pla2r1 |
G |
T |
2: 60,258,932 (GRCm39) |
P1152Q |
possibly damaging |
Het |
| Pole2 |
C |
T |
12: 69,269,936 (GRCm39) |
E63K |
possibly damaging |
Het |
| Polr3e |
T |
A |
7: 120,531,363 (GRCm39) |
F151I |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,862,313 (GRCm39) |
T326A |
probably benign |
Het |
| Prdm8 |
G |
T |
5: 98,331,324 (GRCm39) |
A59S |
possibly damaging |
Het |
| Reps1 |
A |
G |
10: 17,994,770 (GRCm39) |
N538S |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,587,741 (GRCm39) |
D76G |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,021,225 (GRCm39) |
F302L |
probably damaging |
Het |
| Skic2 |
A |
T |
17: 35,060,651 (GRCm39) |
I822N |
probably damaging |
Het |
| Slc17a7 |
T |
C |
7: 44,820,367 (GRCm39) |
I299T |
probably damaging |
Het |
| Slc25a26 |
T |
A |
6: 94,484,520 (GRCm39) |
V20E |
probably damaging |
Het |
| Spem2 |
T |
C |
11: 69,708,089 (GRCm39) |
|
probably null |
Het |
| Stat5b |
A |
C |
11: 100,695,739 (GRCm39) |
F81C |
probably damaging |
Het |
| Taf6 |
A |
T |
5: 138,179,169 (GRCm39) |
V423E |
probably damaging |
Het |
| Tcaf2 |
T |
A |
6: 42,606,020 (GRCm39) |
Y551F |
probably damaging |
Het |
| Tgm6 |
A |
T |
2: 129,977,790 (GRCm39) |
D43V |
probably benign |
Het |
| Tubb3 |
G |
T |
8: 124,147,603 (GRCm39) |
V179L |
probably damaging |
Het |
| Ubr1 |
G |
A |
2: 120,776,830 (GRCm39) |
H304Y |
probably benign |
Het |
| Vmn2r56 |
T |
G |
7: 12,449,408 (GRCm39) |
M277L |
probably benign |
Het |
| Wdr72 |
G |
A |
9: 74,064,581 (GRCm39) |
V538M |
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 |
|
IGL01717:Lrrc39
|
APN |
3 |
116,373,146 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01728:Lrrc39
|
APN |
3 |
116,373,149 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation