Incidental Mutation 'R6592:Lysmd1'
| ID |
524627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lysmd1
|
| Ensembl Gene |
ENSMUSG00000053769 |
| Gene Name |
LysM, putative peptidoglycan-binding, domain containing 1 |
| Synonyms |
2610022K04Rik |
| MMRRC Submission |
044716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R6592 (G1)
|
| Quality Score |
174.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
95041399-95046829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95045197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 148
(S148G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013851]
[ENSMUST00000066386]
[ENSMUST00000172572]
[ENSMUST00000173462]
|
| AlphaFold |
Q9D0E3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013851
|
| SMART Domains |
Protein: ENSMUSP00000013851
Gene: ENSMUSG00000013707
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF758
|
4 |
182 |
2.4e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066386
AA Change: S148G
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000067811
Gene: ENSMUSG00000053769
AA Change: S148G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
19 |
N/A |
INTRINSIC |
|
LysM
|
41 |
85 |
2.58e-7 |
SMART |
|
low complexity region
|
100 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172572
|
| SMART Domains |
Protein: ENSMUSP00000134337
Gene: ENSMUSG00000092607
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-SCNM1
|
44 |
70 |
7.6e-19 |
PFAM |
|
low complexity region
|
133 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173462
|
| SMART Domains |
Protein: ENSMUSP00000133769
Gene: ENSMUSG00000092607
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C2H2
|
42 |
68 |
2e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184238
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
94% (31/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,859,579 (GRCm39) |
V340A |
possibly damaging |
Het |
| Btbd17 |
T |
C |
11: 114,682,302 (GRCm39) |
Y470C |
probably damaging |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,760,018 (GRCm39) |
N511K |
probably benign |
Het |
| Efcab5 |
G |
T |
11: 77,004,436 (GRCm39) |
Q1097K |
possibly damaging |
Het |
| Epha7 |
T |
C |
4: 28,813,482 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
A |
G |
19: 37,560,360 (GRCm39) |
T126A |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,389,015 (GRCm39) |
Q572R |
probably benign |
Het |
| Gm17430 |
C |
T |
18: 9,726,514 (GRCm39) |
V53I |
probably benign |
Het |
| Gpr149 |
T |
C |
3: 62,437,961 (GRCm39) |
D732G |
probably benign |
Het |
| Hdlbp |
A |
G |
1: 93,340,083 (GRCm39) |
|
probably null |
Het |
| Herc2 |
A |
G |
7: 55,857,438 (GRCm39) |
|
probably null |
Het |
| Htt |
C |
T |
5: 35,034,388 (GRCm39) |
T1953I |
possibly damaging |
Het |
| Lgmn |
C |
T |
12: 102,370,529 (GRCm39) |
V134I |
probably damaging |
Het |
| Lhfpl7 |
A |
G |
5: 113,382,329 (GRCm39) |
Y34C |
probably damaging |
Het |
| Man2a2 |
T |
C |
7: 80,002,947 (GRCm39) |
D1054G |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,718,983 (GRCm39) |
T640A |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,584,495 (GRCm39) |
E94G |
probably null |
Het |
| Or4a67 |
G |
A |
2: 88,598,471 (GRCm39) |
H63Y |
probably damaging |
Het |
| Or5v1 |
T |
A |
17: 37,809,988 (GRCm39) |
W149R |
probably damaging |
Het |
| Pgm3 |
A |
G |
9: 86,441,496 (GRCm39) |
V367A |
possibly damaging |
Het |
| Ppp1r1a |
A |
C |
15: 103,439,799 (GRCm39) |
D164E |
probably damaging |
Het |
| Proca1 |
G |
T |
11: 78,095,779 (GRCm39) |
S137I |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,844,634 (GRCm39) |
F459L |
possibly damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,437,626 (GRCm39) |
|
probably null |
Het |
| Slc51a |
T |
C |
16: 32,294,621 (GRCm39) |
D321G |
probably damaging |
Het |
| Tchhl1 |
T |
A |
3: 93,378,116 (GRCm39) |
D273E |
probably damaging |
Het |
| Tlk1 |
G |
A |
2: 70,544,497 (GRCm39) |
R713C |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,287,656 (GRCm39) |
I465T |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,814,756 (GRCm39) |
I5M |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,378 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lysmd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03069:Lysmd1
|
APN |
3 |
95,044,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2105:Lysmd1
|
UTSW |
3 |
95,042,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Lysmd1
|
UTSW |
3 |
95,045,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3849:Lysmd1
|
UTSW |
3 |
95,045,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Lysmd1
|
UTSW |
3 |
95,042,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5980:Lysmd1
|
UTSW |
3 |
95,045,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7390:Lysmd1
|
UTSW |
3 |
95,045,795 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8906:Lysmd1
|
UTSW |
3 |
95,045,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Lysmd1
|
UTSW |
3 |
95,045,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Lysmd1
|
UTSW |
3 |
95,045,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9527:Lysmd1
|
UTSW |
3 |
95,042,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTATCAGAGCCCAGAGAC -3'
(R):5'- GGGAGAAAGGCATCCACTTG -3'
Sequencing Primer
(F):5'- TCAGAGCCCAGAGACTTGTTTAATGG -3'
(R):5'- ACTTGCCTGTCCTCGGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation