Incidental Mutation 'R3745:Tom1l1'
| ID |
271176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tom1l1
|
| Ensembl Gene |
ENSMUSG00000020541 |
| Gene Name |
target of myb1-like 1 (chicken) |
| Synonyms |
2310045L10Rik, Srcasm |
| MMRRC Submission |
040731-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R3745 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
90536516-90579105 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90548567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 259
(S259P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020849]
[ENSMUST00000107867]
[ENSMUST00000107868]
[ENSMUST00000107869]
|
| AlphaFold |
Q923U0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020849
AA Change: S335P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020849
Gene: ENSMUSG00000020541
AA Change: S335P
| 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: ENSMUST00000107867
AA Change: S88P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103499
Gene: ENSMUSG00000020541
AA Change: S88P
| 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 benign
Transcript: ENSMUST00000107868
AA Change: S258P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103500
Gene: ENSMUSG00000020541
AA Change: S258P
| 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: S259P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000103501
Gene: ENSMUSG00000020541
AA Change: S259P
| 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: ENSMUST00000147329
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Acot9 |
G |
A |
X: 154,054,941 (GRCm39) |
|
probably benign |
Het |
| Akap10 |
A |
G |
11: 61,806,131 (GRCm39) |
V199A |
probably benign |
Het |
| Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,297,647 (GRCm39) |
Y473N |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,720,036 (GRCm39) |
E351K |
probably damaging |
Het |
| Astn1 |
G |
T |
1: 158,329,630 (GRCm39) |
A162S |
probably damaging |
Het |
| Atosa |
T |
C |
9: 74,917,144 (GRCm39) |
V581A |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,505,425 (GRCm39) |
|
probably benign |
Het |
| Cog6 |
A |
T |
3: 52,900,240 (GRCm39) |
M507K |
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Cyp2d11 |
A |
C |
15: 82,276,056 (GRCm39) |
I175S |
probably benign |
Het |
| Dclk1 |
A |
G |
3: 55,154,863 (GRCm39) |
N98D |
possibly damaging |
Het |
| Erich5 |
T |
A |
15: 34,470,878 (GRCm39) |
C36S |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,014,348 (GRCm39) |
I540V |
possibly damaging |
Het |
| Fam20a |
A |
T |
11: 109,568,616 (GRCm39) |
S303R |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gbp9 |
C |
A |
5: 105,253,724 (GRCm39) |
|
probably benign |
Het |
| Gm6408 |
G |
T |
5: 146,421,246 (GRCm39) |
V292F |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,742,637 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,006,717 (GRCm39) |
D1136G |
probably damaging |
Het |
| Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
| Mlkl |
A |
G |
8: 112,042,199 (GRCm39) |
|
probably benign |
Het |
| Msantd1 |
T |
A |
5: 35,080,811 (GRCm39) |
V155E |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,064,829 (GRCm39) |
|
probably benign |
Het |
| Nbn |
T |
A |
4: 15,976,163 (GRCm39) |
C375S |
possibly damaging |
Het |
| Nell2 |
A |
C |
15: 95,330,554 (GRCm39) |
C231W |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,388,358 (GRCm39) |
S421P |
probably benign |
Het |
| Npr3 |
A |
T |
15: 11,905,577 (GRCm39) |
V50E |
probably damaging |
Het |
| Or4d10 |
A |
G |
19: 12,051,744 (GRCm39) |
L84P |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,728,435 (GRCm39) |
|
probably benign |
Het |
| Pkn3 |
A |
G |
2: 29,980,353 (GRCm39) |
K785R |
probably damaging |
Het |
| Ppef2 |
T |
A |
5: 92,387,010 (GRCm39) |
|
probably benign |
Het |
| Prdm10 |
T |
C |
9: 31,251,703 (GRCm39) |
I357T |
possibly damaging |
Het |
| Prrc2c |
G |
A |
1: 162,525,754 (GRCm39) |
T284I |
unknown |
Het |
| Psma3 |
T |
C |
12: 71,025,522 (GRCm39) |
S13P |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rpl6l |
T |
C |
10: 110,962,226 (GRCm39) |
|
noncoding transcript |
Het |
| Tex11 |
A |
G |
X: 99,960,178 (GRCm39) |
V522A |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 129,605,978 (GRCm39) |
E573G |
probably benign |
Het |
| Trpm8 |
A |
G |
1: 88,276,049 (GRCm39) |
E549G |
probably benign |
Het |
| Vmn1r66 |
C |
T |
7: 10,008,248 (GRCm39) |
A262T |
possibly damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,568,101 (GRCm39) |
D1131E |
probably benign |
Het |
| Zfp445 |
A |
C |
9: 122,683,791 (GRCm39) |
D289E |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAACCCAACCATGTTGCAGGG -3'
(R):5'- TCCTGTGCTTAGGAGGATGTAC -3'
Sequencing Primer
(F):5'- CATGTTGCAGGGCAGCGATTC -3'
(R):5'- GGCTGAAGTTTGCCTTGAAAAATATG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation