Incidental Mutation 'IGL01995:Tom1l1'
| ID |
183656 |
| 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: 0.156)
|
| Stock # |
IGL01995
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
90536516-90579105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 90540687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 327
(P327S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020849]
[ENSMUST00000020851]
[ENSMUST00000107867]
[ENSMUST00000107868]
[ENSMUST00000107869]
|
| AlphaFold |
Q923U0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020849
AA Change: P404S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020849
Gene: ENSMUSG00000020541
AA Change: P404S
| 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 benign
Transcript: ENSMUST00000020851
|
| SMART Domains |
Protein: ENSMUSP00000020851
Gene: ENSMUSG00000020544
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
54 |
N/A |
INTRINSIC |
|
Pfam:CtaG_Cox11
|
112 |
262 |
5.5e-62 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107867
AA Change: P157S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103499
Gene: ENSMUSG00000020541
AA Change: P157S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GAT
|
1 |
50 |
5.4e-12 |
PFAM |
|
low complexity region
|
93 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107868
AA Change: P327S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103500
Gene: ENSMUSG00000020541
AA Change: P327S
| 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 benign
Transcript: ENSMUST00000107869
AA Change: P328S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103501
Gene: ENSMUSG00000020541
AA Change: P328S
| 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 |
noncoding transcript
Transcript: ENSMUST00000127034
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
C |
14: 44,401,302 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
C |
A |
17: 47,779,442 (GRCm39) |
|
probably benign |
Het |
| Arhgap29 |
G |
A |
3: 121,807,977 (GRCm39) |
V1052I |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,577,862 (GRCm39) |
S1029P |
probably benign |
Het |
| Arpc5l |
T |
C |
2: 38,898,226 (GRCm39) |
S7P |
probably damaging |
Het |
| Asf1b |
A |
G |
8: 84,682,533 (GRCm39) |
I26V |
probably benign |
Het |
| Cep95 |
T |
C |
11: 106,697,197 (GRCm39) |
L240P |
probably damaging |
Het |
| Cnmd |
A |
G |
14: 79,879,508 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,180,846 (GRCm39) |
N783I |
probably damaging |
Het |
| Col6a2 |
C |
A |
10: 76,440,676 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
T |
C |
4: 120,907,607 (GRCm39) |
|
probably null |
Het |
| Cry2 |
T |
C |
2: 92,254,977 (GRCm39) |
E126G |
probably benign |
Het |
| Cxcl15 |
T |
C |
5: 90,942,467 (GRCm39) |
V13A |
possibly damaging |
Het |
| Dbr1 |
A |
G |
9: 99,465,952 (GRCm39) |
D510G |
probably benign |
Het |
| Dct |
A |
G |
14: 118,271,655 (GRCm39) |
F392L |
probably damaging |
Het |
| Dgkz |
A |
G |
2: 91,764,395 (GRCm39) |
|
probably benign |
Het |
| Dhrs7b |
A |
G |
11: 60,721,541 (GRCm39) |
I2V |
probably benign |
Het |
| Efnb3 |
A |
T |
11: 69,447,730 (GRCm39) |
|
probably null |
Het |
| Fbf1 |
T |
A |
11: 116,041,846 (GRCm39) |
R565S |
probably null |
Het |
| Gimap5 |
T |
C |
6: 48,729,727 (GRCm39) |
I99T |
probably damaging |
Het |
| Gm9912 |
A |
G |
3: 148,891,085 (GRCm39) |
L16P |
unknown |
Het |
| Gpr17 |
A |
G |
18: 32,080,187 (GRCm39) |
L292P |
probably damaging |
Het |
| Hdac10 |
C |
T |
15: 89,011,801 (GRCm39) |
V129M |
probably damaging |
Het |
| Mfap3l |
A |
G |
8: 61,124,498 (GRCm39) |
I247V |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,537,457 (GRCm39) |
S86R |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,085,890 (GRCm39) |
S55P |
possibly damaging |
Het |
| Nol6 |
A |
T |
4: 41,118,567 (GRCm39) |
C745S |
probably damaging |
Het |
| Nudt13 |
A |
T |
14: 20,356,385 (GRCm39) |
E103D |
probably damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,405,806 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,261 (GRCm39) |
I19T |
possibly damaging |
Het |
| Pdzk1 |
G |
T |
3: 96,764,687 (GRCm39) |
A324S |
probably benign |
Het |
| Pofut2 |
T |
C |
10: 77,096,515 (GRCm39) |
V80A |
possibly damaging |
Het |
| Rasip1 |
A |
G |
7: 45,286,240 (GRCm39) |
D821G |
probably damaging |
Het |
| Rnf10 |
T |
A |
5: 115,389,161 (GRCm39) |
K273* |
probably null |
Het |
| Slc4a9 |
A |
G |
18: 36,672,828 (GRCm39) |
M811V |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,751,015 (GRCm39) |
D301G |
probably damaging |
Het |
| Tm9sf2 |
A |
T |
14: 122,380,883 (GRCm39) |
T159S |
probably benign |
Het |
| Trim3 |
A |
G |
7: 105,267,689 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
A |
C |
19: 18,807,691 (GRCm39) |
|
probably benign |
Het |
| Ttc13 |
A |
C |
8: 125,415,621 (GRCm39) |
L245R |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,713,118 (GRCm39) |
V60E |
probably damaging |
Het |
| Ung |
T |
A |
5: 114,274,447 (GRCm39) |
D173E |
probably benign |
Het |
| Zbtb5 |
A |
G |
4: 44,995,294 (GRCm39) |
V30A |
probably damaging |
Het |
|
| Other mutations in Tom1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Tom1l1
|
APN |
11 |
90,565,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation