Incidental Mutation 'R0829:Lrrc74b'
ID |
78445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc74b
|
Ensembl Gene |
ENSMUSG00000022759 |
Gene Name |
leucine rich repeat containing 74B |
Synonyms |
4930451C15Rik |
MMRRC Submission |
039009-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R0829 (G1)
|
Quality Score |
138 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
17362329-17379111 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 17376254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155867
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023441]
[ENSMUST00000023442]
[ENSMUST00000065125]
[ENSMUST00000100123]
[ENSMUST00000171002]
[ENSMUST00000232637]
[ENSMUST00000231806]
|
AlphaFold |
Q14BP6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023441
|
SMART Domains |
Protein: ENSMUSP00000023441 Gene: ENSMUSG00000022758
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
Pfam:P2X_receptor
|
25 |
385 |
7.9e-139 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000023442
|
SMART Domains |
Protein: ENSMUSP00000023442 Gene: ENSMUSG00000022759
Domain | Start | End | E-Value | Type |
LRR
|
71 |
103 |
3.9e0 |
SMART |
LRR
|
104 |
131 |
1.04e-3 |
SMART |
LRR
|
132 |
159 |
1.14e1 |
SMART |
LRR
|
160 |
187 |
7.78e-3 |
SMART |
LRR
|
188 |
215 |
3.9e0 |
SMART |
LRR
|
216 |
243 |
7.89e-1 |
SMART |
LRR
|
244 |
271 |
6.78e-3 |
SMART |
LRR
|
272 |
299 |
5.51e-1 |
SMART |
low complexity region
|
342 |
355 |
N/A |
INTRINSIC |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000070127 Gene: ENSMUSG00000022759
Domain | Start | End | E-Value | Type |
LRR
|
71 |
103 |
3.9e0 |
SMART |
LRR
|
104 |
131 |
1.04e-3 |
SMART |
LRR
|
132 |
159 |
1.14e1 |
SMART |
LRR
|
160 |
187 |
7.78e-3 |
SMART |
LRR
|
188 |
215 |
3.9e0 |
SMART |
LRR
|
216 |
243 |
7.89e-1 |
SMART |
LRR
|
244 |
271 |
6.78e-3 |
SMART |
LRR
|
272 |
299 |
5.51e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100123
|
SMART Domains |
Protein: ENSMUSP00000097699 Gene: ENSMUSG00000022759
Domain | Start | End | E-Value | Type |
LRR
|
71 |
103 |
3.9e0 |
SMART |
LRR
|
104 |
131 |
1.04e-3 |
SMART |
LRR
|
132 |
159 |
1.14e1 |
SMART |
LRR
|
160 |
187 |
7.78e-3 |
SMART |
LRR
|
188 |
215 |
3.9e0 |
SMART |
LRR
|
216 |
243 |
7.89e-1 |
SMART |
LRR
|
244 |
271 |
6.78e-3 |
SMART |
LRR
|
272 |
299 |
5.51e-1 |
SMART |
LRR
|
300 |
327 |
4.16e0 |
SMART |
low complexity region
|
374 |
387 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138839
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171002
|
SMART Domains |
Protein: ENSMUSP00000132727 Gene: ENSMUSG00000022758
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
Pfam:P2X_receptor
|
25 |
197 |
1e-65 |
PFAM |
Pfam:P2X_receptor
|
185 |
362 |
7e-63 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232637
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232230
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231806
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.7%
|
Validation Efficiency |
95% (37/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprh |
C |
A |
16: 38,266,150 (GRCm39) |
A331S |
probably benign |
Het |
Atp4b |
T |
G |
8: 13,440,098 (GRCm39) |
T83P |
probably damaging |
Het |
Ccdc177 |
T |
C |
12: 80,806,253 (GRCm39) |
E7G |
probably damaging |
Het |
Cercam |
G |
T |
2: 29,761,079 (GRCm39) |
R126L |
probably damaging |
Het |
Cpb1 |
C |
T |
3: 20,306,107 (GRCm39) |
|
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,543,238 (GRCm39) |
M2311V |
probably benign |
Het |
Dnah9 |
C |
A |
11: 65,896,002 (GRCm39) |
V2458L |
probably benign |
Het |
Dnajb6 |
T |
C |
5: 29,990,020 (GRCm39) |
|
probably benign |
Het |
Dst |
A |
G |
1: 34,202,301 (GRCm39) |
T210A |
probably damaging |
Het |
Gfpt1 |
T |
C |
6: 87,030,847 (GRCm39) |
|
probably benign |
Het |
Grin1 |
C |
T |
2: 25,188,460 (GRCm39) |
D429N |
probably benign |
Het |
Iqck |
T |
C |
7: 118,499,111 (GRCm39) |
|
probably null |
Het |
Itgb5 |
A |
G |
16: 33,764,571 (GRCm39) |
I359V |
probably benign |
Het |
Lemd3 |
T |
C |
10: 120,814,988 (GRCm39) |
T82A |
probably benign |
Het |
Mitf |
A |
T |
6: 97,980,869 (GRCm39) |
I246F |
possibly damaging |
Het |
Msgn1 |
C |
T |
12: 11,258,525 (GRCm39) |
R142Q |
probably damaging |
Het |
Myh8 |
C |
A |
11: 67,174,326 (GRCm39) |
|
probably benign |
Het |
Nacad |
C |
A |
11: 6,551,158 (GRCm39) |
V678L |
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,725,596 (GRCm39) |
|
probably benign |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Or1s2 |
T |
A |
19: 13,758,556 (GRCm39) |
D191E |
probably damaging |
Het |
Or4c100 |
A |
T |
2: 88,356,572 (GRCm39) |
Y215F |
probably damaging |
Het |
Or4l15 |
C |
A |
14: 50,198,503 (GRCm39) |
V9L |
probably benign |
Het |
Or6d13 |
A |
G |
6: 116,518,226 (GRCm39) |
T271A |
probably benign |
Het |
Pcdh15 |
T |
A |
10: 74,338,598 (GRCm39) |
V1068E |
probably damaging |
Het |
Plat |
A |
G |
8: 23,262,273 (GRCm39) |
Y99C |
probably damaging |
Het |
Potefam1 |
G |
A |
2: 111,028,450 (GRCm39) |
T42I |
possibly damaging |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rbm25 |
T |
C |
12: 83,707,150 (GRCm39) |
|
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,316,570 (GRCm39) |
D998G |
probably damaging |
Het |
Serpinb6a |
A |
G |
13: 34,119,684 (GRCm39) |
|
probably benign |
Het |
Spef2 |
T |
C |
15: 9,687,899 (GRCm39) |
I507M |
probably benign |
Het |
Srebf2 |
T |
A |
15: 82,061,790 (GRCm39) |
|
probably null |
Het |
Stimate |
C |
T |
14: 30,584,842 (GRCm39) |
R56C |
probably damaging |
Het |
Tert |
T |
C |
13: 73,792,504 (GRCm39) |
C924R |
probably damaging |
Het |
Usp19 |
T |
C |
9: 108,371,000 (GRCm39) |
S221P |
probably benign |
Het |
Xkr4 |
C |
T |
1: 3,741,469 (GRCm39) |
A35T |
possibly damaging |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
|
Other mutations in Lrrc74b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01810:Lrrc74b
|
APN |
16 |
17,363,422 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02402:Lrrc74b
|
APN |
16 |
17,376,028 (GRCm39) |
splice site |
probably benign |
|
P0043:Lrrc74b
|
UTSW |
16 |
17,376,023 (GRCm39) |
splice site |
probably benign |
|
R0131:Lrrc74b
|
UTSW |
16 |
17,371,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Lrrc74b
|
UTSW |
16 |
17,371,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R0132:Lrrc74b
|
UTSW |
16 |
17,371,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R1463:Lrrc74b
|
UTSW |
16 |
17,377,737 (GRCm39) |
missense |
probably benign |
0.00 |
R1681:Lrrc74b
|
UTSW |
16 |
17,377,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R1938:Lrrc74b
|
UTSW |
16 |
17,371,058 (GRCm39) |
missense |
probably benign |
0.41 |
R4790:Lrrc74b
|
UTSW |
16 |
17,367,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R5428:Lrrc74b
|
UTSW |
16 |
17,376,125 (GRCm39) |
missense |
probably damaging |
0.99 |
R6198:Lrrc74b
|
UTSW |
16 |
17,366,650 (GRCm39) |
missense |
probably damaging |
0.96 |
R7910:Lrrc74b
|
UTSW |
16 |
17,376,213 (GRCm39) |
nonsense |
probably null |
|
R8233:Lrrc74b
|
UTSW |
16 |
17,376,089 (GRCm39) |
missense |
probably benign |
0.00 |
R8957:Lrrc74b
|
UTSW |
16 |
17,378,976 (GRCm39) |
missense |
probably benign |
0.09 |
R9030:Lrrc74b
|
UTSW |
16 |
17,367,640 (GRCm39) |
critical splice donor site |
probably null |
|
X0063:Lrrc74b
|
UTSW |
16 |
17,371,072 (GRCm39) |
missense |
probably benign |
0.05 |
Z1177:Lrrc74b
|
UTSW |
16 |
17,376,036 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Lrrc74b
|
UTSW |
16 |
17,376,032 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCATGACTGCCCAGACTTTGTTACC -3'
(R):5'- TGCTACCACAGCATTCTTCACAGAC -3'
Sequencing Primer
(F):5'- TTACCTGCCAGGTCATTGAG -3'
(R):5'- TCTTCACAGACAGTCATGGAGTG -3'
|
Posted On |
2013-10-16 |