Incidental Mutation 'P0043:Lrrc74b'
| ID |
7666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc74b
|
| Ensembl Gene |
ENSMUSG00000022759 |
| Gene Name |
leucine rich repeat containing 74B |
| Synonyms |
4930451C15Rik |
| MMRRC Submission |
038291-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
P0043 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17362329-17379111 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 17376023 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]
[ENSMUST00000231806]
[ENSMUST00000232637]
|
| 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 |
probably benign
Transcript: ENSMUST00000065125
|
| 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: ENSMUST00000231806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232230
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232637
|
| Coding Region Coverage |
- 1x: 81.5%
- 3x: 74.1%
- 10x: 50.1%
- 20x: 26.7%
|
| Validation Efficiency |
74% (145/195) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Chn1 |
A |
T |
2: 73,454,509 (GRCm39) |
V247E |
probably damaging |
Het |
| Col28a1 |
T |
A |
6: 8,168,152 (GRCm39) |
|
probably benign |
Het |
| Cxcl5 |
A |
G |
5: 90,907,826 (GRCm39) |
I85M |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,394,051 (GRCm39) |
E829G |
probably benign |
Het |
| Kctd18 |
G |
A |
1: 58,006,722 (GRCm39) |
R43C |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,058,155 (GRCm39) |
F629I |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,328,620 (GRCm39) |
S195P |
probably damaging |
Het |
| Mrpl30 |
A |
G |
1: 37,937,259 (GRCm39) |
T133A |
probably benign |
Het |
| Mrps27 |
A |
G |
13: 99,548,754 (GRCm39) |
T297A |
probably benign |
Het |
| Per1 |
G |
T |
11: 68,992,869 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
C |
A |
10: 107,416,086 (GRCm39) |
M1737I |
probably benign |
Het |
| Ropn1l |
A |
C |
15: 31,457,447 (GRCm39) |
|
probably benign |
Het |
| Sfrp4 |
A |
G |
13: 19,807,765 (GRCm39) |
I55V |
probably benign |
Het |
| Spata31 |
G |
A |
13: 65,068,820 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,855,129 (GRCm39) |
D1929E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,628,358 (GRCm39) |
S12855P |
probably damaging |
Het |
| Zscan10 |
C |
T |
17: 23,828,594 (GRCm39) |
R302* |
probably null |
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 |
|
|
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 |
|
R0829:Lrrc74b
|
UTSW |
16 |
17,376,254 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
| Posted On |
2012-10-29 |
Incidental Mutation