Incidental Mutation 'IGL02864:Las1l'
| ID |
362285 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Las1l
|
| Ensembl Gene |
ENSMUSG00000057421 |
| Gene Name |
LAS1-like (S. cerevisiae) |
| Synonyms |
1810030A06Rik, 5830482G23Rik |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL02864
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
94978941-95000568 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94991446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 308
(D308E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079987]
[ENSMUST00000113864]
|
| AlphaFold |
A2BE28 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079987
AA Change: D308E
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000078901
Gene: ENSMUSG00000057421
AA Change: D308E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Las1
|
27 |
173 |
1e-45 |
PFAM |
|
low complexity region
|
183 |
205 |
N/A |
INTRINSIC |
|
coiled coil region
|
522 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
738 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113864
AA Change: D308E
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109495
Gene: ENSMUSG00000057421
AA Change: D308E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Las1
|
28 |
172 |
6e-45 |
PFAM |
|
low complexity region
|
183 |
205 |
N/A |
INTRINSIC |
|
coiled coil region
|
539 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
741 |
755 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126605
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147994
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152181
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,937,080 (GRCm39) |
R347G |
probably damaging |
Het |
| Actl11 |
G |
A |
9: 107,806,186 (GRCm39) |
A170T |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,440,670 (GRCm39) |
D241G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,835,308 (GRCm39) |
W745R |
probably damaging |
Het |
| Arhgef7 |
G |
A |
8: 11,865,247 (GRCm39) |
V401I |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,773,663 (GRCm39) |
V1709A |
probably benign |
Het |
| Ccl20 |
T |
C |
1: 83,095,799 (GRCm39) |
|
probably null |
Het |
| Cd209d |
C |
T |
8: 3,927,122 (GRCm39) |
V48I |
probably benign |
Het |
| Cttnbp2 |
T |
C |
6: 18,374,548 (GRCm39) |
N1559S |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,951,829 (GRCm39) |
Y1890C |
probably damaging |
Het |
| Dsel |
A |
T |
1: 111,786,944 (GRCm39) |
M1197K |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,288,938 (GRCm39) |
S259T |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,764,349 (GRCm39) |
G672D |
probably damaging |
Het |
| Fhod1 |
C |
T |
8: 106,063,796 (GRCm39) |
|
probably benign |
Het |
| Gstk1 |
A |
G |
6: 42,224,687 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Gtpbp2 |
G |
A |
17: 46,476,520 (GRCm39) |
C282Y |
probably benign |
Het |
| Hapln3 |
A |
T |
7: 78,767,812 (GRCm39) |
W113R |
probably benign |
Het |
| Ifng |
A |
G |
10: 118,278,561 (GRCm39) |
Y74C |
probably damaging |
Het |
| Kyat1 |
C |
A |
2: 30,082,089 (GRCm39) |
|
probably benign |
Het |
| Mdh1b |
T |
A |
1: 63,760,762 (GRCm39) |
T100S |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,338,806 (GRCm39) |
M810K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,543,685 (GRCm39) |
D593G |
probably damaging |
Het |
| Pnma5 |
A |
T |
X: 72,079,457 (GRCm39) |
D408E |
probably benign |
Het |
| Pramel46 |
G |
T |
5: 95,418,543 (GRCm39) |
A151E |
possibly damaging |
Het |
| Psen2 |
T |
C |
1: 180,073,268 (GRCm39) |
T18A |
probably benign |
Het |
| Ptk7 |
A |
T |
17: 46,883,659 (GRCm39) |
V802E |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,297,002 (GRCm39) |
|
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,720,141 (GRCm39) |
N132S |
possibly damaging |
Het |
| Spag9 |
A |
G |
11: 93,997,487 (GRCm39) |
H675R |
probably damaging |
Het |
| Tpra1 |
C |
A |
6: 88,888,868 (GRCm39) |
P350H |
probably damaging |
Het |
| Trim43a |
C |
T |
9: 88,470,165 (GRCm39) |
R324C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,566,675 (GRCm39) |
I28073V |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,767,095 (GRCm39) |
H3023Q |
probably benign |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,661 (GRCm39) |
V261A |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,336,286 (GRCm39) |
P103S |
probably benign |
Het |
| Wars1 |
A |
G |
12: 108,848,791 (GRCm39) |
M52T |
probably benign |
Het |
| Zcchc2 |
C |
T |
1: 105,943,814 (GRCm39) |
H460Y |
probably damaging |
Het |
| Zscan12 |
G |
T |
13: 21,552,730 (GRCm39) |
V185F |
probably benign |
Het |
|
| Other mutations in Las1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02049:Las1l
|
APN |
X |
94,981,059 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02152:Las1l
|
APN |
X |
94,996,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Las1l
|
UTSW |
X |
94,984,427 (GRCm39) |
small insertion |
probably benign |
|
|
FR4304:Las1l
|
UTSW |
X |
94,984,426 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Las1l
|
UTSW |
X |
94,984,228 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Las1l
|
UTSW |
X |
94,984,438 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Las1l
|
UTSW |
X |
94,984,429 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Las1l
|
UTSW |
X |
94,984,231 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Las1l
|
UTSW |
X |
94,984,231 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Las1l
|
UTSW |
X |
94,984,227 (GRCm39) |
small deletion |
probably benign |
|
|
FR4589:Las1l
|
UTSW |
X |
94,984,225 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Las1l
|
UTSW |
X |
94,984,435 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Las1l
|
UTSW |
X |
94,984,433 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Las1l
|
UTSW |
X |
94,984,427 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Las1l
|
UTSW |
X |
94,984,439 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Las1l
|
UTSW |
X |
94,984,438 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Las1l
|
UTSW |
X |
94,984,433 (GRCm39) |
small insertion |
probably benign |
|
|
R1400:Las1l
|
UTSW |
X |
94,990,506 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
RF003:Las1l
|
UTSW |
X |
94,984,422 (GRCm39) |
small insertion |
probably benign |
|
|
RF008:Las1l
|
UTSW |
X |
94,984,422 (GRCm39) |
small insertion |
probably benign |
|
|
RF014:Las1l
|
UTSW |
X |
94,984,263 (GRCm39) |
small deletion |
probably benign |
|
|
RF025:Las1l
|
UTSW |
X |
94,984,226 (GRCm39) |
nonsense |
probably null |
|
|
RF042:Las1l
|
UTSW |
X |
94,984,226 (GRCm39) |
small insertion |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation