Incidental Mutation 'R0104:Leng8'
| ID |
64148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Leng8
|
| Ensembl Gene |
ENSMUSG00000035545 |
| Gene Name |
leukocyte receptor cluster (LRC) member 8 |
| Synonyms |
|
| MMRRC Submission |
038390-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R0104 (G1)
|
| Quality Score |
109 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
4140038-4151176 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4146807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 443
(D443G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112428
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037472]
[ENSMUST00000058358]
[ENSMUST00000117274]
[ENSMUST00000121270]
[ENSMUST00000128756]
[ENSMUST00000132086]
[ENSMUST00000144248]
[ENSMUST00000154571]
|
| AlphaFold |
Q8CBY3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037472
AA Change: D443G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046465
Gene: ENSMUSG00000035545
AA Change: D443G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
468 |
N/A |
INTRINSIC |
|
Pfam:SAC3_GANP
|
567 |
762 |
8.2e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058358
|
| SMART Domains |
Protein: ENSMUSP00000061079
Gene: ENSMUSG00000043432
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
8 |
34 |
1.72e-4 |
SMART |
|
Pfam:DUF504
|
77 |
128 |
1.9e-11 |
PFAM |
|
Pfam:AKAP7_NLS
|
305 |
484 |
2.5e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117274
|
| SMART Domains |
Protein: ENSMUSP00000113223
Gene: ENSMUSG00000035545
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121270
AA Change: D443G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112428
Gene: ENSMUSG00000035545
AA Change: D443G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
468 |
N/A |
INTRINSIC |
|
Pfam:SAC3_GANP
|
567 |
764 |
7.4e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127723
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128756
|
| SMART Domains |
Protein: ENSMUSP00000118832
Gene: ENSMUSG00000035545
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132086
|
| SMART Domains |
Protein: ENSMUSP00000121129
Gene: ENSMUSG00000035545
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
71 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144248
|
| SMART Domains |
Protein: ENSMUSP00000120574
Gene: ENSMUSG00000035545
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
431 |
N/A |
INTRINSIC |
|
Pfam:SAC3_GANP
|
530 |
725 |
1e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154571
|
| SMART Domains |
Protein: ENSMUSP00000123328
Gene: ENSMUSG00000035545
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
47 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
118 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dnah5 |
A |
T |
15: 28,453,499 (GRCm39) |
E4423D |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,809,317 (GRCm39) |
T1879S |
possibly damaging |
Het |
| Gm136 |
G |
T |
4: 34,746,593 (GRCm39) |
H139Q |
possibly damaging |
Het |
| Ifrd2 |
T |
A |
9: 107,465,116 (GRCm39) |
L10H |
probably damaging |
Het |
| Itpr3 |
C |
A |
17: 27,314,966 (GRCm39) |
H704Q |
probably benign |
Het |
| Kcng1 |
A |
G |
2: 168,110,966 (GRCm39) |
I66T |
probably damaging |
Het |
| Kcnv2 |
T |
C |
19: 27,300,619 (GRCm39) |
Y157H |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,695,091 (GRCm39) |
N264S |
possibly damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,488,718 (GRCm39) |
E132G |
probably benign |
Het |
| Pmpcb |
C |
G |
5: 21,951,036 (GRCm39) |
S266* |
probably null |
Het |
| Prmt7 |
T |
C |
8: 106,963,982 (GRCm39) |
I292T |
probably damaging |
Het |
| Rif1 |
T |
C |
2: 52,000,104 (GRCm39) |
L1186S |
possibly damaging |
Het |
| Sox30 |
A |
C |
11: 45,872,141 (GRCm39) |
E332A |
possibly damaging |
Het |
| Taf2 |
T |
C |
15: 54,901,734 (GRCm39) |
D820G |
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,634,809 (GRCm39) |
|
probably null |
Het |
| Zfp655 |
T |
C |
5: 145,180,825 (GRCm39) |
S228P |
probably damaging |
Het |
| Zfyve9 |
C |
A |
4: 108,575,360 (GRCm39) |
D574Y |
probably damaging |
Het |
|
| Other mutations in Leng8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Leng8
|
APN |
7 |
4,148,481 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02437:Leng8
|
APN |
7 |
4,145,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Coolhand
|
UTSW |
7 |
4,147,932 (GRCm39) |
nonsense |
probably null |
|
|
R0774:Leng8
|
UTSW |
7 |
4,145,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1696:Leng8
|
UTSW |
7 |
4,148,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Leng8
|
UTSW |
7 |
4,148,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Leng8
|
UTSW |
7 |
4,146,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2054:Leng8
|
UTSW |
7 |
4,147,289 (GRCm39) |
nonsense |
probably null |
|
|
R3433:Leng8
|
UTSW |
7 |
4,145,131 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4335:Leng8
|
UTSW |
7 |
4,150,037 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4607:Leng8
|
UTSW |
7 |
4,147,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4608:Leng8
|
UTSW |
7 |
4,147,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Leng8
|
UTSW |
7 |
4,147,930 (GRCm39) |
splice site |
probably null |
|
|
R5307:Leng8
|
UTSW |
7 |
4,148,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5339:Leng8
|
UTSW |
7 |
4,148,285 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5368:Leng8
|
UTSW |
7 |
4,142,987 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5370:Leng8
|
UTSW |
7 |
4,148,433 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5615:Leng8
|
UTSW |
7 |
4,147,957 (GRCm39) |
nonsense |
probably null |
|
|
R5645:Leng8
|
UTSW |
7 |
4,148,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5750:Leng8
|
UTSW |
7 |
4,145,119 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6041:Leng8
|
UTSW |
7 |
4,148,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6054:Leng8
|
UTSW |
7 |
4,148,522 (GRCm39) |
splice site |
probably null |
|
|
R6481:Leng8
|
UTSW |
7 |
4,148,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6826:Leng8
|
UTSW |
7 |
4,148,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6919:Leng8
|
UTSW |
7 |
4,146,625 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7313:Leng8
|
UTSW |
7 |
4,142,525 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7357:Leng8
|
UTSW |
7 |
4,147,932 (GRCm39) |
nonsense |
probably null |
|
|
R7428:Leng8
|
UTSW |
7 |
4,146,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Leng8
|
UTSW |
7 |
4,146,504 (GRCm39) |
nonsense |
probably null |
|
|
R8027:Leng8
|
UTSW |
7 |
4,145,855 (GRCm39) |
frame shift |
probably null |
|
|
R8198:Leng8
|
UTSW |
7 |
4,147,170 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9048:Leng8
|
UTSW |
7 |
4,146,931 (GRCm39) |
unclassified |
probably benign |
|
|
R9103:Leng8
|
UTSW |
7 |
4,146,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9234:Leng8
|
UTSW |
7 |
4,145,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATAACAGCTCTTCCTCCAGCAC -3'
(R):5'- CTTTAGCCACTCTGAAGGCCATCTC -3'
Sequencing Primer
(F):5'- AGCACGGATTCACGCTC -3'
(R):5'- TCCCCCACCTGTGAGAC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation