Incidental Mutation 'IGL01640:Lrrc19'
ID |
93103 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrc19
|
Ensembl Gene |
ENSMUSG00000049799 |
Gene Name |
leucine rich repeat containing 19 |
Synonyms |
9130022A01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
IGL01640
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
94524890-94538381 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 94526745 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 271
(V271I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030311]
[ENSMUST00000053419]
[ENSMUST00000107101]
[ENSMUST00000107104]
|
AlphaFold |
Q8BZT5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030311
|
SMART Domains |
Protein: ENSMUSP00000030311 Gene: ENSMUSG00000028576
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
low complexity region
|
47 |
62 |
N/A |
INTRINSIC |
coiled coil region
|
98 |
271 |
N/A |
INTRINSIC |
coiled coil region
|
302 |
382 |
N/A |
INTRINSIC |
coiled coil region
|
430 |
490 |
N/A |
INTRINSIC |
coiled coil region
|
512 |
546 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053419
AA Change: V271I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000056094 Gene: ENSMUSG00000049799 AA Change: V271I
Domain | Start | End | E-Value | Type |
LRR
|
69 |
93 |
3.36e2 |
SMART |
LRR
|
94 |
117 |
4.32e0 |
SMART |
LRR
|
118 |
141 |
1.71e1 |
SMART |
LRR
|
142 |
166 |
1.09e2 |
SMART |
LRRCT
|
174 |
225 |
1.24e-6 |
SMART |
Pfam:LRR19-TM
|
250 |
364 |
8.1e-45 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107101
AA Change: V271I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102718 Gene: ENSMUSG00000049799 AA Change: V271I
Domain | Start | End | E-Value | Type |
LRR
|
69 |
93 |
3.36e2 |
SMART |
LRR
|
94 |
117 |
4.32e0 |
SMART |
LRR
|
118 |
141 |
1.71e1 |
SMART |
LRR
|
142 |
166 |
1.09e2 |
SMART |
LRRCT
|
174 |
225 |
1.24e-6 |
SMART |
Pfam:LRR19-TM
|
245 |
364 |
9.3e-47 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107104
|
SMART Domains |
Protein: ENSMUSP00000102721 Gene: ENSMUSG00000028576
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
low complexity region
|
47 |
62 |
N/A |
INTRINSIC |
coiled coil region
|
98 |
271 |
N/A |
INTRINSIC |
coiled coil region
|
302 |
352 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
C |
3: 124,373,587 (GRCm39) |
T3A |
probably damaging |
Het |
4933402N03Rik |
A |
T |
7: 130,740,848 (GRCm39) |
S123T |
possibly damaging |
Het |
Adamts17 |
A |
T |
7: 66,679,428 (GRCm39) |
T559S |
probably damaging |
Het |
Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
Arel1 |
G |
A |
12: 84,967,475 (GRCm39) |
T783M |
probably damaging |
Het |
B3gntl1 |
C |
T |
11: 121,563,846 (GRCm39) |
E5K |
probably benign |
Het |
Faf1 |
T |
A |
4: 109,697,600 (GRCm39) |
F309I |
probably damaging |
Het |
Fhod3 |
T |
G |
18: 25,248,850 (GRCm39) |
M1343R |
probably benign |
Het |
Fnbp1 |
A |
G |
2: 30,995,303 (GRCm39) |
F44L |
probably damaging |
Het |
Gm3633 |
A |
T |
14: 42,460,324 (GRCm39) |
Y206* |
probably null |
Het |
Gprc6a |
A |
C |
10: 51,503,180 (GRCm39) |
F228V |
probably damaging |
Het |
Il31ra |
T |
C |
13: 112,668,292 (GRCm39) |
I453V |
possibly damaging |
Het |
Kif2a |
A |
G |
13: 107,111,060 (GRCm39) |
I529T |
probably damaging |
Het |
Ncaph2 |
A |
G |
15: 89,248,041 (GRCm39) |
|
probably null |
Het |
Nek5 |
A |
G |
8: 22,610,856 (GRCm39) |
I49T |
probably benign |
Het |
Nhlrc3 |
A |
T |
3: 53,360,958 (GRCm39) |
|
probably benign |
Het |
Or51ac3 |
A |
G |
7: 103,214,228 (GRCm39) |
V86A |
probably damaging |
Het |
Or52n20 |
A |
T |
7: 104,320,871 (GRCm39) |
S321C |
probably damaging |
Het |
Or8g28 |
C |
A |
9: 39,169,559 (GRCm39) |
M136I |
probably damaging |
Het |
Pcnx2 |
T |
C |
8: 126,528,297 (GRCm39) |
T1308A |
probably benign |
Het |
Pla2g6 |
T |
C |
15: 79,188,513 (GRCm39) |
N448S |
probably benign |
Het |
Pole |
T |
A |
5: 110,446,132 (GRCm39) |
L571Q |
probably null |
Het |
Rufy1 |
A |
G |
11: 50,281,205 (GRCm39) |
|
probably benign |
Het |
Sftpd |
C |
A |
14: 40,894,592 (GRCm39) |
A276S |
probably benign |
Het |
Slc35f4 |
A |
C |
14: 49,556,225 (GRCm39) |
V176G |
probably damaging |
Het |
Snrpb |
T |
C |
2: 130,017,251 (GRCm39) |
D89G |
probably benign |
Het |
Stab2 |
A |
T |
10: 86,790,035 (GRCm39) |
V577D |
probably benign |
Het |
Synrg |
A |
C |
11: 83,872,334 (GRCm39) |
S152R |
probably damaging |
Het |
Trgv7 |
T |
C |
13: 19,362,260 (GRCm39) |
|
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,876,645 (GRCm39) |
E682G |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,718,744 (GRCm39) |
I2989T |
probably benign |
Het |
Vmn1r116 |
A |
G |
7: 20,606,373 (GRCm39) |
T65A |
probably benign |
Het |
Zfp469 |
G |
A |
8: 122,998,009 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Lrrc19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02585:Lrrc19
|
APN |
4 |
94,531,562 (GRCm39) |
missense |
probably benign |
0.00 |
R0087:Lrrc19
|
UTSW |
4 |
94,529,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R0629:Lrrc19
|
UTSW |
4 |
94,526,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R1172:Lrrc19
|
UTSW |
4 |
94,526,626 (GRCm39) |
nonsense |
probably null |
|
R1572:Lrrc19
|
UTSW |
4 |
94,526,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R1576:Lrrc19
|
UTSW |
4 |
94,527,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R1589:Lrrc19
|
UTSW |
4 |
94,529,187 (GRCm39) |
missense |
probably benign |
0.24 |
R2107:Lrrc19
|
UTSW |
4 |
94,527,531 (GRCm39) |
missense |
probably benign |
|
R4734:Lrrc19
|
UTSW |
4 |
94,526,586 (GRCm39) |
missense |
probably benign |
0.01 |
R4932:Lrrc19
|
UTSW |
4 |
94,529,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R6079:Lrrc19
|
UTSW |
4 |
94,531,580 (GRCm39) |
missense |
probably benign |
0.17 |
R6969:Lrrc19
|
UTSW |
4 |
94,527,610 (GRCm39) |
missense |
probably benign |
0.44 |
R7293:Lrrc19
|
UTSW |
4 |
94,526,627 (GRCm39) |
missense |
probably benign |
0.07 |
R7596:Lrrc19
|
UTSW |
4 |
94,531,592 (GRCm39) |
missense |
probably benign |
|
R7914:Lrrc19
|
UTSW |
4 |
94,526,537 (GRCm39) |
missense |
probably damaging |
0.97 |
R8333:Lrrc19
|
UTSW |
4 |
94,527,587 (GRCm39) |
missense |
probably benign |
0.03 |
R9468:Lrrc19
|
UTSW |
4 |
94,526,521 (GRCm39) |
missense |
probably benign |
0.03 |
R9484:Lrrc19
|
UTSW |
4 |
94,531,573 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2013-12-09 |