Incidental Mutation 'IGL00595:Tom1l1'
| ID |
332753 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tom1l1
|
| Ensembl Gene |
ENSMUSG00000020541 |
| Gene Name |
target of myb1-like 1 (chicken) |
| Synonyms |
2310045L10Rik, Srcasm |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
IGL00595
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
90536516-90579105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90565566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 101
(L101Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020849]
[ENSMUST00000107868]
[ENSMUST00000107869]
[ENSMUST00000154599]
|
| AlphaFold |
Q923U0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020849
AA Change: L101Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020849
Gene: ENSMUSG00000020541
AA Change: L101Q
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
15 |
150 |
7.37e-53 |
SMART |
|
Pfam:GAT
|
212 |
288 |
5.8e-17 |
PFAM |
|
low complexity region
|
340 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
416 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107868
AA Change: L24Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103500
Gene: ENSMUSG00000020541
AA Change: L24Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VHS
|
1 |
73 |
4.2e-10 |
PFAM |
|
Pfam:GAT
|
119 |
220 |
5.5e-29 |
PFAM |
|
low complexity region
|
263 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
339 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107869
AA Change: L101Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103501
Gene: ENSMUSG00000020541
AA Change: L101Q
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
15 |
152 |
7.23e-38 |
SMART |
|
low complexity region
|
264 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
340 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154599
AA Change: L101Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123329
Gene: ENSMUSG00000020541
AA Change: L101Q
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
15 |
150 |
7.37e-53 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
G |
A |
10: 28,849,954 (GRCm39) |
R161* |
probably null |
Het |
| Adam20 |
T |
A |
8: 41,249,084 (GRCm39) |
F398Y |
probably benign |
Het |
| Ano1 |
T |
A |
7: 144,192,250 (GRCm39) |
I374F |
probably damaging |
Het |
| Apol10a |
A |
T |
15: 77,369,135 (GRCm39) |
N45Y |
probably null |
Het |
| Asnsd1 |
A |
G |
1: 53,386,647 (GRCm39) |
S327P |
probably damaging |
Het |
| Ccdc83 |
T |
A |
7: 89,893,252 (GRCm39) |
K168N |
probably damaging |
Het |
| Chmp1b2 |
A |
G |
X: 106,831,450 (GRCm39) |
S189P |
probably damaging |
Het |
| Dpysl4 |
G |
T |
7: 138,676,092 (GRCm39) |
V274F |
probably damaging |
Het |
| Fxr2 |
T |
G |
11: 69,540,018 (GRCm39) |
S292A |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,969,322 (GRCm39) |
D132V |
unknown |
Het |
| Gpr161 |
A |
G |
1: 165,146,372 (GRCm39) |
H436R |
probably benign |
Het |
| Jaml |
C |
T |
9: 45,012,287 (GRCm39) |
|
probably benign |
Het |
| Kcnc2 |
A |
T |
10: 112,297,893 (GRCm39) |
S606C |
probably damaging |
Het |
| Kcnc2 |
G |
T |
10: 112,297,892 (GRCm39) |
E605D |
probably benign |
Het |
| Kcnrg |
T |
C |
14: 61,845,359 (GRCm39) |
I133T |
probably damaging |
Het |
| Kdm7a |
A |
G |
6: 39,121,444 (GRCm39) |
I837T |
probably benign |
Het |
| Lactb2 |
A |
G |
1: 13,700,350 (GRCm39) |
L227S |
probably benign |
Het |
| Lats1 |
T |
G |
10: 7,578,069 (GRCm39) |
S398A |
probably benign |
Het |
| Llgl2 |
T |
A |
11: 115,725,710 (GRCm39) |
D19E |
probably benign |
Het |
| Nup107 |
A |
T |
10: 117,609,257 (GRCm39) |
C365* |
probably null |
Het |
| Nup107 |
T |
C |
10: 117,609,273 (GRCm39) |
|
probably null |
Het |
| Plekhf2 |
T |
C |
4: 10,991,022 (GRCm39) |
K107E |
probably damaging |
Het |
| Rnf139 |
A |
T |
15: 58,770,391 (GRCm39) |
I139F |
possibly damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,836,006 (GRCm39) |
N348S |
probably benign |
Het |
| Rttn |
A |
T |
18: 88,992,464 (GRCm39) |
Q136H |
probably benign |
Het |
| Syne2 |
C |
T |
12: 75,972,420 (GRCm39) |
T1052I |
possibly damaging |
Het |
| Tubal3 |
A |
G |
13: 3,983,015 (GRCm39) |
N265S |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,126,079 (GRCm39) |
N131S |
probably benign |
Het |
| Zfp944 |
T |
C |
17: 22,558,186 (GRCm39) |
S354G |
probably benign |
Het |
| Zfp961 |
G |
A |
8: 72,722,272 (GRCm39) |
A262T |
probably damaging |
Het |
|
| Other mutations in Tom1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01995:Tom1l1
|
APN |
11 |
90,540,687 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0057:Tom1l1
|
UTSW |
11 |
90,575,975 (GRCm39) |
splice site |
probably benign |
|
|
R1557:Tom1l1
|
UTSW |
11 |
90,547,210 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1614:Tom1l1
|
UTSW |
11 |
90,574,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1616:Tom1l1
|
UTSW |
11 |
90,547,177 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2165:Tom1l1
|
UTSW |
11 |
90,540,721 (GRCm39) |
splice site |
probably benign |
|
|
R2517:Tom1l1
|
UTSW |
11 |
90,561,951 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3745:Tom1l1
|
UTSW |
11 |
90,548,567 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4614:Tom1l1
|
UTSW |
11 |
90,561,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4694:Tom1l1
|
UTSW |
11 |
90,537,675 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4755:Tom1l1
|
UTSW |
11 |
90,575,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5397:Tom1l1
|
UTSW |
11 |
90,552,600 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6294:Tom1l1
|
UTSW |
11 |
90,552,587 (GRCm39) |
nonsense |
probably null |
|
|
R6733:Tom1l1
|
UTSW |
11 |
90,575,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6911:Tom1l1
|
UTSW |
11 |
90,534,987 (GRCm39) |
splice site |
probably null |
|
|
R7103:Tom1l1
|
UTSW |
11 |
90,561,907 (GRCm39) |
splice site |
probably null |
|
|
R7489:Tom1l1
|
UTSW |
11 |
90,547,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7696:Tom1l1
|
UTSW |
11 |
90,563,741 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8244:Tom1l1
|
UTSW |
11 |
90,548,647 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8787:Tom1l1
|
UTSW |
11 |
90,561,931 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9205:Tom1l1
|
UTSW |
11 |
90,548,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9307:Tom1l1
|
UTSW |
11 |
90,540,648 (GRCm39) |
small deletion |
probably benign |
|
|
R9308:Tom1l1
|
UTSW |
11 |
90,540,648 (GRCm39) |
small deletion |
probably benign |
|
|
R9309:Tom1l1
|
UTSW |
11 |
90,540,648 (GRCm39) |
small deletion |
probably benign |
|
|
| Posted On |
2015-08-05 |
Incidental Mutation