Incidental Mutation 'R4479:Lrrc28'
ID |
331396 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc28
|
Ensembl Gene |
ENSMUSG00000030556 |
Gene Name |
leucine rich repeat containing 28 |
Synonyms |
2310058O11Rik, 2210012C09Rik, 1300004K21Rik |
MMRRC Submission |
041736-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R4479 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
67163158-67295016 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 67181362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053950]
[ENSMUST00000187953]
[ENSMUST00000191035]
|
AlphaFold |
Q3TX51 |
Predicted Effect |
probably null
Transcript: ENSMUST00000053950
|
SMART Domains |
Protein: ENSMUSP00000052177 Gene: ENSMUSG00000030556
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 |
noncoding transcript
Transcript: ENSMUST00000185818
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187953
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188971
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190115
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190770
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191035
|
SMART Domains |
Protein: ENSMUSP00000140382 Gene: ENSMUSG00000030556
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191062
|
Meta Mutation Damage Score |
0.9594 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
95% (36/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
C |
7: 45,654,663 (GRCm39) |
T553A |
possibly damaging |
Het |
Adamts20 |
C |
T |
15: 94,301,326 (GRCm39) |
R66H |
probably damaging |
Het |
Anks1b |
A |
G |
10: 89,885,754 (GRCm39) |
E150G |
probably damaging |
Het |
Chp2 |
A |
G |
7: 121,820,141 (GRCm39) |
D97G |
probably benign |
Het |
Cnbd2 |
T |
C |
2: 156,175,573 (GRCm39) |
|
probably benign |
Het |
D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
Dusp15 |
A |
G |
2: 152,786,102 (GRCm39) |
L135P |
probably damaging |
Het |
Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
Erlin2 |
G |
T |
8: 27,515,127 (GRCm39) |
V10L |
probably benign |
Het |
F830104G03Rik |
A |
G |
3: 56,797,634 (GRCm39) |
S98P |
unknown |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
Ighv1-22 |
G |
T |
12: 114,710,283 (GRCm39) |
A15E |
possibly damaging |
Het |
Ints4 |
T |
C |
7: 97,134,178 (GRCm39) |
S37P |
probably damaging |
Het |
Irs1 |
G |
A |
1: 82,265,015 (GRCm39) |
T1067I |
probably damaging |
Het |
Or10v1 |
A |
G |
19: 11,873,922 (GRCm39) |
Y179C |
probably damaging |
Het |
Or4a71 |
A |
G |
2: 89,358,514 (GRCm39) |
I80T |
possibly damaging |
Het |
Or5ac24 |
G |
A |
16: 59,165,230 (GRCm39) |
T278I |
probably damaging |
Het |
Psg18 |
C |
T |
7: 18,084,787 (GRCm39) |
S103N |
probably benign |
Het |
Psma3 |
T |
C |
12: 71,031,555 (GRCm39) |
|
probably benign |
Het |
Slc7a11 |
T |
C |
3: 50,372,412 (GRCm39) |
|
probably benign |
Het |
Tas2r115 |
T |
C |
6: 132,714,495 (GRCm39) |
D152G |
probably damaging |
Het |
Tti1 |
A |
T |
2: 157,850,315 (GRCm39) |
L308Q |
possibly damaging |
Het |
Unc93b1 |
G |
A |
19: 3,985,236 (GRCm39) |
A15T |
probably benign |
Het |
Usp43 |
G |
A |
11: 67,747,233 (GRCm39) |
R820C |
possibly damaging |
Het |
Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
Zfp286 |
C |
G |
11: 62,671,030 (GRCm39) |
G348R |
probably damaging |
Het |
Zkscan5 |
T |
C |
5: 145,147,984 (GRCm39) |
|
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 |
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 |
|
R8360:Lrrc28
|
UTSW |
7 |
67,290,909 (GRCm39) |
missense |
probably benign |
0.01 |
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'- CTGAGACAGGAAGACCACTG -3'
(R):5'- TCATGACTAATGCCCCTGTG -3'
Sequencing Primer
(F):5'- GGAAGACCACTGACATACTCAATG -3'
(R):5'- TATGCAGCTGTGGCATCC -3'
|
Posted On |
2015-07-21 |