Incidental Mutation 'R6603:Lrrc49'
ID |
526399 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc49
|
Ensembl Gene |
ENSMUSG00000047766 |
Gene Name |
leucine rich repeat containing 49 |
Synonyms |
D430025H09Rik |
MMRRC Submission |
044726-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R6603 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
60494507-60595460 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to C
at 60501052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128842
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053171]
[ENSMUST00000065603]
[ENSMUST00000114032]
[ENSMUST00000114034]
[ENSMUST00000150060]
[ENSMUST00000166168]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000053171
|
SMART Domains |
Protein: ENSMUSP00000057014 Gene: ENSMUSG00000047766
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
34 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000065603
|
SMART Domains |
Protein: ENSMUSP00000070606 Gene: ENSMUSG00000047766
Domain | Start | End | E-Value | Type |
LRR
|
199 |
221 |
2.84e1 |
SMART |
LRR
|
243 |
264 |
1.49e1 |
SMART |
LRR
|
265 |
286 |
1.37e2 |
SMART |
LRR
|
287 |
308 |
1.62e1 |
SMART |
LRR
|
309 |
332 |
6.77e0 |
SMART |
low complexity region
|
378 |
394 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114032
|
SMART Domains |
Protein: ENSMUSP00000109666 Gene: ENSMUSG00000047766
Domain | Start | End | E-Value | Type |
LRR
|
127 |
149 |
2.84e1 |
SMART |
LRR
|
171 |
192 |
1.49e1 |
SMART |
LRR
|
193 |
214 |
1.37e2 |
SMART |
LRR
|
215 |
236 |
1.62e1 |
SMART |
LRR
|
237 |
260 |
6.77e0 |
SMART |
low complexity region
|
306 |
322 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114034
|
SMART Domains |
Protein: ENSMUSP00000109668 Gene: ENSMUSG00000047766
Domain | Start | End | E-Value | Type |
LRR
|
133 |
155 |
2.84e1 |
SMART |
LRR
|
177 |
198 |
1.49e1 |
SMART |
LRR
|
199 |
220 |
1.37e2 |
SMART |
LRR
|
221 |
242 |
1.62e1 |
SMART |
LRR
|
243 |
266 |
6.77e0 |
SMART |
low complexity region
|
312 |
328 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136388
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150060
|
SMART Domains |
Protein: ENSMUSP00000118205 Gene: ENSMUSG00000047766
Domain | Start | End | E-Value | Type |
LRR
|
133 |
155 |
2.84e1 |
SMART |
LRR
|
177 |
198 |
1.49e1 |
SMART |
LRR
|
199 |
220 |
1.37e2 |
SMART |
LRR
|
221 |
242 |
1.62e1 |
SMART |
LRR
|
243 |
266 |
6.77e0 |
SMART |
low complexity region
|
312 |
328 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000166168
|
SMART Domains |
Protein: ENSMUSP00000128842 Gene: ENSMUSG00000047766
Domain | Start | End | E-Value | Type |
LRR
|
193 |
215 |
2.84e1 |
SMART |
LRR
|
237 |
258 |
1.49e1 |
SMART |
LRR
|
259 |
280 |
1.37e2 |
SMART |
LRR
|
281 |
302 |
1.62e1 |
SMART |
LRR
|
303 |
326 |
6.77e0 |
SMART |
low complexity region
|
372 |
388 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
A |
T |
8: 25,155,518 (GRCm39) |
F167Y |
possibly damaging |
Het |
Ap3d1 |
A |
G |
10: 80,549,881 (GRCm39) |
S755P |
probably benign |
Het |
Aph1a |
A |
T |
3: 95,802,808 (GRCm39) |
N136I |
probably damaging |
Het |
AU040320 |
T |
A |
4: 126,686,046 (GRCm39) |
N207K |
probably benign |
Het |
Caprin1 |
A |
T |
2: 103,605,856 (GRCm39) |
D377E |
probably benign |
Het |
Col18a1 |
A |
G |
10: 76,899,811 (GRCm39) |
|
probably null |
Het |
Ddi2 |
T |
C |
4: 141,411,181 (GRCm39) |
N577S |
probably damaging |
Het |
Dip2c |
T |
A |
13: 9,704,624 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
A |
T |
7: 130,648,240 (GRCm39) |
|
probably null |
Het |
Fam13a |
T |
C |
6: 58,964,174 (GRCm39) |
K86R |
probably benign |
Het |
Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
Fbxl8 |
A |
T |
8: 105,994,842 (GRCm39) |
D118V |
probably damaging |
Het |
Garin5b |
G |
A |
7: 4,761,431 (GRCm39) |
P427L |
possibly damaging |
Het |
Git2 |
C |
A |
5: 114,869,052 (GRCm39) |
|
probably null |
Het |
Gm17190 |
T |
G |
13: 96,218,770 (GRCm39) |
D35E |
possibly damaging |
Het |
Gnb4 |
C |
T |
3: 32,639,295 (GRCm39) |
D333N |
probably damaging |
Het |
Has2 |
T |
A |
15: 56,531,968 (GRCm39) |
D249V |
probably damaging |
Het |
Ighv1-23 |
A |
G |
12: 114,728,141 (GRCm39) |
S94P |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,248,669 (GRCm39) |
I1029T |
probably damaging |
Het |
Kctd16 |
T |
C |
18: 40,391,544 (GRCm39) |
I44T |
probably benign |
Het |
Kpna1 |
A |
G |
16: 35,849,890 (GRCm39) |
|
probably null |
Het |
Lonrf1 |
T |
A |
8: 36,690,095 (GRCm39) |
R654S |
probably damaging |
Het |
Miip |
T |
G |
4: 147,950,380 (GRCm39) |
K72T |
possibly damaging |
Het |
Mink1 |
C |
T |
11: 70,500,419 (GRCm39) |
P782S |
probably damaging |
Het |
Mpped2 |
A |
G |
2: 106,697,322 (GRCm39) |
T266A |
probably benign |
Het |
Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
Naip1 |
C |
T |
13: 100,559,666 (GRCm39) |
G1113S |
probably benign |
Het |
Nbr1 |
A |
G |
11: 101,446,931 (GRCm39) |
|
probably benign |
Het |
Necab3 |
A |
T |
2: 154,396,842 (GRCm39) |
N46K |
probably damaging |
Het |
Or51a8 |
A |
T |
7: 102,549,621 (GRCm39) |
I16F |
probably benign |
Het |
Phtf1 |
C |
T |
3: 103,901,189 (GRCm39) |
R360C |
probably damaging |
Het |
Plcl2 |
A |
G |
17: 50,914,145 (GRCm39) |
I385V |
probably benign |
Het |
Prmt8 |
A |
T |
6: 127,706,376 (GRCm39) |
F138L |
probably benign |
Het |
Prpf40a |
T |
G |
2: 53,042,975 (GRCm39) |
R436S |
probably damaging |
Het |
Rab27b |
T |
A |
18: 70,118,375 (GRCm39) |
I181F |
probably damaging |
Het |
Rasgrf1 |
A |
G |
9: 89,792,310 (GRCm39) |
E87G |
probably damaging |
Het |
Scrib |
T |
A |
15: 75,934,572 (GRCm39) |
T674S |
probably benign |
Het |
Slc9a4 |
A |
G |
1: 40,662,664 (GRCm39) |
S644G |
probably benign |
Het |
Slc9a9 |
G |
A |
9: 94,821,599 (GRCm39) |
A329T |
probably damaging |
Het |
Smc4 |
T |
C |
3: 68,929,794 (GRCm39) |
|
probably null |
Het |
Sox7 |
T |
A |
14: 64,185,637 (GRCm39) |
H224Q |
probably benign |
Het |
Spata31 |
T |
C |
13: 65,070,479 (GRCm39) |
S876P |
probably damaging |
Het |
Syndig1 |
G |
A |
2: 149,845,208 (GRCm39) |
V244M |
probably damaging |
Het |
Tas2r113 |
A |
T |
6: 132,870,421 (GRCm39) |
I150L |
probably benign |
Het |
Tasor |
A |
G |
14: 27,168,343 (GRCm39) |
Y295C |
probably damaging |
Het |
Tmem59l |
G |
A |
8: 70,939,006 (GRCm39) |
P56L |
probably benign |
Het |
Tnfrsf8 |
A |
T |
4: 145,019,168 (GRCm39) |
D222E |
possibly damaging |
Het |
Trim52 |
T |
C |
14: 106,344,483 (GRCm39) |
L47P |
probably damaging |
Het |
Ttc34 |
T |
A |
4: 154,923,762 (GRCm39) |
I157K |
probably benign |
Het |
Txndc16 |
A |
G |
14: 45,389,224 (GRCm39) |
F492S |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,182,897 (GRCm39) |
I428V |
probably benign |
Het |
Vmn2r41 |
T |
A |
7: 8,141,359 (GRCm39) |
I702F |
probably damaging |
Het |
Wdr12 |
T |
A |
1: 60,121,783 (GRCm39) |
H256L |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,346,888 (GRCm39) |
H3043R |
probably benign |
Het |
Xrcc1 |
C |
T |
7: 24,270,459 (GRCm39) |
Q500* |
probably null |
Het |
Zfp583 |
T |
C |
7: 6,328,475 (GRCm39) |
N38S |
probably damaging |
Het |
|
Other mutations in Lrrc49 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00156:Lrrc49
|
APN |
9 |
60,508,603 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00468:Lrrc49
|
APN |
9 |
60,595,151 (GRCm39) |
unclassified |
probably benign |
|
IGL00792:Lrrc49
|
APN |
9 |
60,595,121 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02252:Lrrc49
|
APN |
9 |
60,595,142 (GRCm39) |
start codon destroyed |
probably benign |
0.04 |
IGL02830:Lrrc49
|
APN |
9 |
60,592,393 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03103:Lrrc49
|
APN |
9 |
60,592,316 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03223:Lrrc49
|
APN |
9 |
60,595,128 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL03244:Lrrc49
|
APN |
9 |
60,495,140 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03392:Lrrc49
|
APN |
9 |
60,573,563 (GRCm39) |
splice site |
probably benign |
|
IGL02837:Lrrc49
|
UTSW |
9 |
60,517,605 (GRCm39) |
missense |
probably benign |
0.00 |
R0164:Lrrc49
|
UTSW |
9 |
60,587,883 (GRCm39) |
missense |
probably benign |
0.26 |
R0164:Lrrc49
|
UTSW |
9 |
60,587,883 (GRCm39) |
missense |
probably benign |
0.26 |
R0335:Lrrc49
|
UTSW |
9 |
60,584,378 (GRCm39) |
missense |
probably damaging |
0.99 |
R0399:Lrrc49
|
UTSW |
9 |
60,517,529 (GRCm39) |
splice site |
probably benign |
|
R0607:Lrrc49
|
UTSW |
9 |
60,573,640 (GRCm39) |
missense |
probably benign |
0.35 |
R1396:Lrrc49
|
UTSW |
9 |
60,587,810 (GRCm39) |
missense |
probably damaging |
0.99 |
R1731:Lrrc49
|
UTSW |
9 |
60,528,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R1800:Lrrc49
|
UTSW |
9 |
60,505,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R1817:Lrrc49
|
UTSW |
9 |
60,510,059 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1876:Lrrc49
|
UTSW |
9 |
60,495,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1925:Lrrc49
|
UTSW |
9 |
60,556,773 (GRCm39) |
missense |
probably benign |
0.07 |
R2172:Lrrc49
|
UTSW |
9 |
60,509,965 (GRCm39) |
missense |
probably benign |
0.25 |
R2233:Lrrc49
|
UTSW |
9 |
60,505,440 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2235:Lrrc49
|
UTSW |
9 |
60,505,440 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2927:Lrrc49
|
UTSW |
9 |
60,501,029 (GRCm39) |
nonsense |
probably null |
|
R3955:Lrrc49
|
UTSW |
9 |
60,578,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R4214:Lrrc49
|
UTSW |
9 |
60,573,609 (GRCm39) |
missense |
probably benign |
0.33 |
R4772:Lrrc49
|
UTSW |
9 |
60,592,335 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5283:Lrrc49
|
UTSW |
9 |
60,594,461 (GRCm39) |
missense |
probably benign |
0.06 |
R5801:Lrrc49
|
UTSW |
9 |
60,509,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R6115:Lrrc49
|
UTSW |
9 |
60,522,444 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6488:Lrrc49
|
UTSW |
9 |
60,509,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R6525:Lrrc49
|
UTSW |
9 |
60,505,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R6540:Lrrc49
|
UTSW |
9 |
60,592,335 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6550:Lrrc49
|
UTSW |
9 |
60,584,430 (GRCm39) |
missense |
probably benign |
0.13 |
R6878:Lrrc49
|
UTSW |
9 |
60,587,431 (GRCm39) |
missense |
probably damaging |
0.99 |
R7144:Lrrc49
|
UTSW |
9 |
60,522,439 (GRCm39) |
missense |
probably damaging |
0.99 |
R7336:Lrrc49
|
UTSW |
9 |
60,584,474 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7541:Lrrc49
|
UTSW |
9 |
60,517,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R7608:Lrrc49
|
UTSW |
9 |
60,510,005 (GRCm39) |
missense |
probably null |
1.00 |
R7739:Lrrc49
|
UTSW |
9 |
60,500,975 (GRCm39) |
missense |
probably benign |
|
R8097:Lrrc49
|
UTSW |
9 |
60,522,331 (GRCm39) |
missense |
probably benign |
|
R8220:Lrrc49
|
UTSW |
9 |
60,517,613 (GRCm39) |
missense |
probably benign |
|
R8442:Lrrc49
|
UTSW |
9 |
60,500,908 (GRCm39) |
missense |
probably benign |
0.01 |
R8458:Lrrc49
|
UTSW |
9 |
60,505,456 (GRCm39) |
missense |
probably benign |
0.00 |
R8692:Lrrc49
|
UTSW |
9 |
60,594,445 (GRCm39) |
missense |
probably damaging |
0.97 |
R9036:Lrrc49
|
UTSW |
9 |
60,495,150 (GRCm39) |
missense |
probably benign |
0.17 |
R9126:Lrrc49
|
UTSW |
9 |
60,578,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R9339:Lrrc49
|
UTSW |
9 |
60,510,031 (GRCm39) |
missense |
probably benign |
0.04 |
R9456:Lrrc49
|
UTSW |
9 |
60,594,699 (GRCm39) |
missense |
probably benign |
0.01 |
R9661:Lrrc49
|
UTSW |
9 |
60,573,582 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Lrrc49
|
UTSW |
9 |
60,584,504 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Lrrc49
|
UTSW |
9 |
60,505,376 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
|
Posted On |
2018-06-25 |