Incidental Mutation 'R6733:Tom1l1'
| ID |
530153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tom1l1
|
| Ensembl Gene |
ENSMUSG00000020541 |
| Gene Name |
target of myb1-like 1 (chicken) |
| Synonyms |
2310045L10Rik, Srcasm |
| MMRRC Submission |
044851-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R6733 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
90536516-90579105 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 90575886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020849]
[ENSMUST00000107868]
[ENSMUST00000107869]
[ENSMUST00000154599]
|
| AlphaFold |
Q923U0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020849
|
| SMART Domains |
Protein: ENSMUSP00000020849
Gene: ENSMUSG00000020541
| 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 null
Transcript: ENSMUST00000107868
|
| SMART Domains |
Protein: ENSMUSP00000103500
Gene: ENSMUSG00000020541
| 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 null
Transcript: ENSMUST00000107869
|
| SMART Domains |
Protein: ENSMUSP00000103501
Gene: ENSMUSG00000020541
| 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: ENSMUST00000131055
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000154599
|
| SMART Domains |
Protein: ENSMUSP00000123329
Gene: ENSMUSG00000020541
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
15 |
150 |
7.37e-53 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,464 (GRCm39) |
S155P |
probably damaging |
Het |
| Ccdc125 |
T |
A |
13: 100,830,995 (GRCm39) |
M394K |
probably benign |
Het |
| Cfd |
C |
A |
10: 79,727,636 (GRCm39) |
H103Q |
probably damaging |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Dedd2 |
T |
C |
7: 24,903,332 (GRCm39) |
E209G |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
| Fer1l5 |
T |
C |
1: 36,447,753 (GRCm39) |
|
probably null |
Het |
| H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
| Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
| Marveld3 |
T |
C |
8: 110,688,681 (GRCm39) |
D20G |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,690,882 (GRCm39) |
E122G |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
| Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
| Prl5a1 |
G |
T |
13: 28,333,919 (GRCm39) |
V141F |
possibly damaging |
Het |
| Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,325,206 (GRCm39) |
T81A |
probably benign |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
| Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
| Thop1 |
T |
A |
10: 80,917,246 (GRCm39) |
I583N |
probably damaging |
Het |
| Unk |
A |
G |
11: 115,941,581 (GRCm39) |
D276G |
probably damaging |
Het |
| Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
| Zkscan6 |
A |
G |
11: 65,719,461 (GRCm39) |
T494A |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,723 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTCTAATGACCTCTTGGG -3'
(R):5'- GTACTTGTTCGTGCACCCTG -3'
Sequencing Primer
(F):5'- TCTTGGGGTCCCCTGCATG -3'
(R):5'- CCCAAGCAGATTATTTCAAGGACATG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation