Incidental Mutation 'R8360:Lrrc28'
| ID |
652144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc28
|
| Ensembl Gene |
ENSMUSG00000030556 |
| Gene Name |
leucine rich repeat containing 28 |
| Synonyms |
2310058O11Rik, 2210012C09Rik, 1300004K21Rik |
| MMRRC Submission |
067734-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R8360 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
67163158-67295016 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67290909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 37
(D37E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032775]
[ENSMUST00000053950]
[ENSMUST00000187953]
[ENSMUST00000189836]
[ENSMUST00000190276]
[ENSMUST00000191035]
|
| AlphaFold |
Q3TX51 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032775
AA Change: D37E
PolyPhen 2
Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032775
Gene: ENSMUSG00000030556
AA Change: D37E
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
40 |
63 |
1.33e-1 |
SMART |
|
LRR
|
64 |
86 |
3.24e0 |
SMART |
|
LRR
|
87 |
109 |
1.06e1 |
SMART |
|
LRR_TYP
|
110 |
132 |
7.78e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053950
AA Change: D37E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000052177
Gene: ENSMUSG00000030556
AA Change: D37E
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
40 |
63 |
1.33e-1 |
SMART |
|
LRR
|
64 |
86 |
3.24e0 |
SMART |
|
LRR
|
87 |
109 |
1.06e1 |
SMART |
|
LRR_TYP
|
110 |
132 |
6.67e-2 |
SMART |
|
LRR
|
133 |
156 |
6.4e0 |
SMART |
|
LRR
|
179 |
202 |
1.64e-1 |
SMART |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187953
AA Change: D37E
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189836
AA Change: D37E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000139606
Gene: ENSMUSG00000030556
AA Change: D37E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_1
|
42 |
64 |
5.5e-2 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190276
AA Change: D37E
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000140972
Gene: ENSMUSG00000030556
AA Change: D37E
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
40 |
59 |
3.7e-3 |
SMART |
|
LRR
|
64 |
83 |
1.2e0 |
SMART |
|
LRR
|
87 |
109 |
4.4e-2 |
SMART |
|
LRR_TYP
|
110 |
133 |
2.3e-6 |
SMART |
|
LRR
|
133 |
153 |
1.1e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191035
AA Change: D37E
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140382
Gene: ENSMUSG00000030556
AA Change: D37E
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
40 |
63 |
1.33e-1 |
SMART |
|
LRR
|
64 |
86 |
3.24e0 |
SMART |
|
LRR
|
87 |
109 |
1.06e1 |
SMART |
|
LRR
|
110 |
132 |
8.09e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
96% (43/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17b |
C |
T |
19: 21,655,888 (GRCm39) |
Q57* |
probably null |
Het |
| Acad8 |
C |
T |
9: 26,890,352 (GRCm39) |
A288T |
possibly damaging |
Het |
| Adamtsl3 |
G |
A |
7: 82,197,187 (GRCm39) |
C711Y |
probably damaging |
Het |
| Ahcyl2 |
C |
A |
6: 29,768,869 (GRCm39) |
D111E |
probably benign |
Het |
| Asxl3 |
T |
C |
18: 22,649,174 (GRCm39) |
F388L |
probably benign |
Het |
| Bcr |
T |
A |
10: 74,981,271 (GRCm39) |
S697T |
probably damaging |
Het |
| Catspere2 |
G |
A |
1: 177,842,724 (GRCm39) |
V50M |
possibly damaging |
Het |
| Dgka |
C |
A |
10: 128,563,997 (GRCm39) |
V451F |
probably damaging |
Het |
| Dnajc2 |
A |
T |
5: 21,962,705 (GRCm39) |
C617S |
unknown |
Het |
| Erich3 |
C |
A |
3: 154,469,991 (GRCm39) |
T1481K |
unknown |
Het |
| Golm2 |
A |
T |
2: 121,697,632 (GRCm39) |
|
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,874,059 (GRCm39) |
D396E |
probably benign |
Het |
| Hmgcs2 |
A |
T |
3: 98,204,724 (GRCm39) |
D294V |
possibly damaging |
Het |
| Hnf1a |
A |
G |
5: 115,091,391 (GRCm39) |
V434A |
possibly damaging |
Het |
| Il4ra |
T |
C |
7: 125,169,138 (GRCm39) |
L130P |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,449,767 (GRCm39) |
K672E |
probably damaging |
Het |
| Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,938 (GRCm39) |
S1345P |
probably benign |
Het |
| Mlx |
G |
T |
11: 100,978,140 (GRCm39) |
|
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,436,554 (GRCm39) |
H7878R |
probably benign |
Het |
| Mybpc1 |
C |
A |
10: 88,409,359 (GRCm39) |
E32* |
probably null |
Het |
| Nebl |
C |
T |
2: 17,465,298 (GRCm39) |
V18M |
probably benign |
Het |
| Nhsl3 |
C |
T |
4: 129,117,995 (GRCm39) |
R268Q |
possibly damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,440,229 (GRCm39) |
V602A |
probably benign |
Het |
| Npepps |
G |
A |
11: 97,120,665 (GRCm39) |
P532S |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,900,139 (GRCm39) |
M285K |
probably benign |
Het |
| Or8g19 |
C |
T |
9: 39,055,761 (GRCm39) |
R122* |
probably null |
Het |
| Or8k53 |
T |
C |
2: 86,177,668 (GRCm39) |
I147M |
possibly damaging |
Het |
| Pfdn1 |
G |
A |
18: 36,584,214 (GRCm39) |
T40M |
probably benign |
Het |
| Pkd2 |
G |
T |
5: 104,607,653 (GRCm39) |
E51* |
probably null |
Het |
| Prss40 |
T |
A |
1: 34,599,876 (GRCm39) |
H37L |
probably benign |
Het |
| Rab11fip1 |
A |
T |
8: 27,642,374 (GRCm39) |
C808* |
probably null |
Het |
| Rab3gap2 |
A |
T |
1: 184,999,270 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
C |
T |
18: 81,017,232 (GRCm39) |
R232H |
probably benign |
Het |
| Sbk3 |
A |
G |
7: 4,970,707 (GRCm39) |
F221L |
probably damaging |
Het |
| Sema7a |
T |
G |
9: 57,862,974 (GRCm39) |
|
probably benign |
Het |
| Serpina3b |
C |
A |
12: 104,104,962 (GRCm39) |
N379K |
probably benign |
Het |
| Ssbp4 |
A |
G |
8: 71,052,039 (GRCm39) |
L208P |
probably benign |
Het |
| Stxbp5 |
C |
T |
10: 9,688,003 (GRCm39) |
|
probably null |
Het |
| Tecrl |
A |
G |
5: 83,448,764 (GRCm39) |
Y160H |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,885,511 (GRCm39) |
I1773V |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,198,468 (GRCm39) |
T1511A |
probably benign |
Het |
| Utp15 |
T |
C |
13: 98,391,499 (GRCm39) |
N246S |
probably damaging |
Het |
| Vmn1r49 |
C |
T |
6: 90,049,991 (GRCm39) |
A4T |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,049,640 (GRCm39) |
I703N |
probably damaging |
Het |
| Wdr93 |
A |
G |
7: 79,398,974 (GRCm39) |
D36G |
probably damaging |
Het |
| Zfp334 |
A |
G |
2: 165,225,278 (GRCm39) |
I8T |
probably benign |
Het |
|
| Other mutations in Lrrc28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Lrrc28
|
APN |
7 |
67,278,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01583:Lrrc28
|
APN |
7 |
67,195,223 (GRCm39) |
splice site |
probably null |
|
|
IGL02033:Lrrc28
|
APN |
7 |
67,209,605 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02483:Lrrc28
|
APN |
7 |
67,267,731 (GRCm39) |
splice site |
probably benign |
|
|
IGL02750:Lrrc28
|
APN |
7 |
67,181,431 (GRCm39) |
missense |
probably damaging |
0.96 |
|
BB002:Lrrc28
|
UTSW |
7 |
67,268,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB012:Lrrc28
|
UTSW |
7 |
67,268,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0549:Lrrc28
|
UTSW |
7 |
67,278,090 (GRCm39) |
splice site |
probably benign |
|
|
R0563:Lrrc28
|
UTSW |
7 |
67,195,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Lrrc28
|
UTSW |
7 |
67,267,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Lrrc28
|
UTSW |
7 |
67,267,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1557:Lrrc28
|
UTSW |
7 |
67,209,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1820:Lrrc28
|
UTSW |
7 |
67,290,859 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2149:Lrrc28
|
UTSW |
7 |
67,181,430 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2185:Lrrc28
|
UTSW |
7 |
67,195,201 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4479:Lrrc28
|
UTSW |
7 |
67,181,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5205:Lrrc28
|
UTSW |
7 |
67,181,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7008:Lrrc28
|
UTSW |
7 |
67,245,459 (GRCm39) |
intron |
probably benign |
|
|
R7925:Lrrc28
|
UTSW |
7 |
67,268,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8323:Lrrc28
|
UTSW |
7 |
67,245,455 (GRCm39) |
missense |
unknown |
|
|
R8898:Lrrc28
|
UTSW |
7 |
67,278,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8919:Lrrc28
|
UTSW |
7 |
67,268,833 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9412:Lrrc28
|
UTSW |
7 |
67,181,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Lrrc28
|
UTSW |
7 |
67,179,379 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGCCTAACTGGATGAACTCC -3'
(R):5'- GGACCAAATGGACCAGTTTTG -3'
Sequencing Primer
(F):5'- CTCCAGTAATGAATGTGCAAATACCG -3'
(R):5'- CCAGTTTTGACAAGATGTAGTGCGAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation