Incidental Mutation 'R4713:Tom1l2'
| ID |
353386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tom1l2
|
| Ensembl Gene |
ENSMUSG00000000538 |
| Gene Name |
target of myb1-like 2 (chicken) |
| Synonyms |
2900016I08Rik, A730055F12Rik, myb1-like protein 2 |
| MMRRC Submission |
041601-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.244)
|
| Stock # |
R4713 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60117540-60243731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 60161259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Proline
at position 84
(R84P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064019]
[ENSMUST00000093046]
[ENSMUST00000093048]
[ENSMUST00000095254]
[ENSMUST00000102682]
[ENSMUST00000102683]
|
| AlphaFold |
Q5SRX1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064019
AA Change: R84P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063414
Gene: ENSMUSG00000000538
AA Change: R84P
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
13 |
148 |
1.88e-68 |
SMART |
|
low complexity region
|
187 |
202 |
N/A |
INTRINSIC |
|
Pfam:GAT
|
216 |
317 |
1.7e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093046
|
| SMART Domains |
Protein: ENSMUSP00000090734
Gene: ENSMUSG00000000538
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VHS
|
7 |
73 |
1.3e-19 |
PFAM |
|
low complexity region
|
137 |
152 |
N/A |
INTRINSIC |
|
Pfam:GAT
|
166 |
267 |
3e-36 |
PFAM |
|
low complexity region
|
428 |
443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093048
AA Change: R84P
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090736
Gene: ENSMUSG00000000538
AA Change: R84P
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
13 |
154 |
1.8e-47 |
SMART |
|
Pfam:GAT
|
171 |
272 |
3e-36 |
PFAM |
|
low complexity region
|
433 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095254
AA Change: R84P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092884
Gene: ENSMUSG00000000538
AA Change: R84P
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
13 |
148 |
1.88e-68 |
SMART |
|
low complexity region
|
187 |
202 |
N/A |
INTRINSIC |
|
Pfam:GAT
|
216 |
317 |
2e-36 |
PFAM |
|
low complexity region
|
458 |
473 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102682
AA Change: R84P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099743
Gene: ENSMUSG00000000538
AA Change: R84P
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
13 |
148 |
1.88e-68 |
SMART |
|
low complexity region
|
187 |
202 |
N/A |
INTRINSIC |
|
Pfam:GAT
|
216 |
317 |
1.7e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102683
AA Change: R84P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099744
Gene: ENSMUSG00000000538
AA Change: R84P
| Domain | Start | End | E-Value | Type |
|---|
|
VHS
|
13 |
148 |
1.88e-68 |
SMART |
|
low complexity region
|
187 |
202 |
N/A |
INTRINSIC |
|
Pfam:GAT
|
232 |
308 |
1e-26 |
PFAM |
|
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142225
|
| Meta Mutation Damage Score |
0.8597 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele show malocclusion, kyphosis, hydrocephaly, patchy hair, splenomegaly, high B- and T-cell counts, thrombopenia, impaired humoral responses, a high frequency of infections and tumors, renal cysts, skin lesions, freezing behavior and sporadic bleeding. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
G |
T |
1: 25,586,613 (GRCm39) |
T360K |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,508,449 (GRCm39) |
K356E |
probably benign |
Het |
| Bpifb2 |
T |
A |
2: 153,723,113 (GRCm39) |
V123E |
probably damaging |
Het |
| Cacna1a |
T |
G |
8: 85,276,143 (GRCm39) |
F532V |
probably damaging |
Het |
| Cct8 |
C |
A |
16: 87,284,576 (GRCm39) |
E204* |
probably null |
Het |
| Cd163 |
T |
A |
6: 124,294,577 (GRCm39) |
|
probably null |
Het |
| Cep152 |
C |
A |
2: 125,429,868 (GRCm39) |
A685S |
possibly damaging |
Het |
| Chdh |
A |
G |
14: 29,758,798 (GRCm39) |
D581G |
probably benign |
Het |
| Cnpy3 |
A |
C |
17: 47,058,391 (GRCm39) |
Y77* |
probably null |
Het |
| Col5a3 |
T |
C |
9: 20,704,870 (GRCm39) |
E762G |
unknown |
Het |
| Creb3 |
A |
G |
4: 43,563,247 (GRCm39) |
T115A |
probably benign |
Het |
| Dlat |
G |
T |
9: 50,555,781 (GRCm39) |
A412E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,367,514 (GRCm39) |
N1789S |
probably damaging |
Het |
| Dzank1 |
C |
T |
2: 144,333,724 (GRCm39) |
E370K |
probably benign |
Het |
| Eif3m |
A |
T |
2: 104,837,184 (GRCm39) |
|
probably null |
Het |
| Gimap8 |
A |
T |
6: 48,635,920 (GRCm39) |
M562L |
probably benign |
Het |
| Gprc6a |
T |
A |
10: 51,507,553 (GRCm39) |
|
probably benign |
Het |
| Gsr |
T |
G |
8: 34,170,347 (GRCm39) |
|
probably null |
Het |
| Gstcd |
A |
G |
3: 132,688,860 (GRCm39) |
V630A |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,128,043 (GRCm39) |
I116T |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,989,000 (GRCm39) |
E1817G |
probably damaging |
Het |
| Inpp5f |
A |
C |
7: 128,265,449 (GRCm39) |
T135P |
probably damaging |
Het |
| Ism2 |
A |
G |
12: 87,331,801 (GRCm39) |
|
silent |
Het |
| Itga11 |
A |
G |
9: 62,673,070 (GRCm39) |
D784G |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,298,456 (GRCm39) |
E10G |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,899,618 (GRCm39) |
K440* |
probably null |
Het |
| Lonp2 |
T |
C |
8: 87,439,943 (GRCm39) |
S648P |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,267,175 (GRCm39) |
S1622P |
probably benign |
Het |
| Lrp2 |
G |
T |
2: 69,318,310 (GRCm39) |
A2047D |
probably damaging |
Het |
| Mcm3 |
G |
A |
1: 20,873,801 (GRCm39) |
T773I |
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,297,198 (GRCm39) |
V2612A |
probably benign |
Het |
| Mnx1 |
C |
A |
5: 29,683,129 (GRCm39) |
G49W |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,402,816 (GRCm39) |
Y673* |
probably null |
Het |
| Myo15a |
A |
G |
11: 60,370,756 (GRCm39) |
H1172R |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,466,080 (GRCm39) |
K363R |
probably null |
Het |
| Ncoa4 |
T |
A |
14: 31,898,598 (GRCm39) |
C473S |
probably benign |
Het |
| Nefh |
T |
C |
11: 4,889,656 (GRCm39) |
T988A |
unknown |
Het |
| Nwd2 |
T |
A |
5: 63,961,803 (GRCm39) |
D462E |
probably benign |
Het |
| Or2av9 |
T |
C |
11: 58,380,913 (GRCm39) |
T223A |
probably benign |
Het |
| Pira13 |
G |
T |
7: 3,825,680 (GRCm39) |
Y396* |
probably null |
Het |
| Plec |
T |
C |
15: 76,065,267 (GRCm39) |
E1466G |
unknown |
Het |
| Prl3d2 |
G |
T |
13: 27,306,379 (GRCm39) |
M35I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,357,461 (GRCm39) |
I202F |
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,116,428 (GRCm39) |
D78E |
probably benign |
Het |
| Rsph3b |
T |
C |
17: 7,172,528 (GRCm39) |
|
probably null |
Het |
| Scn10a |
C |
T |
9: 119,438,717 (GRCm39) |
M1717I |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,382,363 (GRCm39) |
H728L |
possibly damaging |
Het |
| Slc26a3 |
G |
T |
12: 31,507,079 (GRCm39) |
A345S |
possibly damaging |
Het |
| Slc35d2 |
A |
G |
13: 64,247,097 (GRCm39) |
V261A |
possibly damaging |
Het |
| Slc49a3 |
T |
C |
5: 108,589,945 (GRCm39) |
T486A |
probably damaging |
Het |
| Ssmem1 |
A |
G |
6: 30,519,513 (GRCm39) |
D66G |
probably damaging |
Het |
| Sult2a8 |
A |
T |
7: 14,159,402 (GRCm39) |
N72K |
probably benign |
Het |
| Tbx10 |
T |
C |
19: 4,046,921 (GRCm39) |
L108P |
probably damaging |
Het |
| Tex14 |
T |
C |
11: 87,427,691 (GRCm39) |
S48P |
probably damaging |
Het |
| Tmie |
A |
G |
9: 110,696,596 (GRCm39) |
L95P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,866,799 (GRCm39) |
D543E |
possibly damaging |
Het |
| Vipr2 |
A |
C |
12: 116,043,751 (GRCm39) |
R49S |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,261,189 (GRCm39) |
S110C |
probably damaging |
Het |
| Zfp791 |
T |
A |
8: 85,837,597 (GRCm39) |
N89I |
probably damaging |
Het |
|
| Other mutations in Tom1l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00648:Tom1l2
|
APN |
11 |
60,151,942 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01459:Tom1l2
|
APN |
11 |
60,171,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02990:Tom1l2
|
APN |
11 |
60,121,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Tom1l2
|
UTSW |
11 |
60,120,960 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0025:Tom1l2
|
UTSW |
11 |
60,120,960 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4456:Tom1l2
|
UTSW |
11 |
60,243,641 (GRCm39) |
unclassified |
probably benign |
|
|
R4627:Tom1l2
|
UTSW |
11 |
60,133,533 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4695:Tom1l2
|
UTSW |
11 |
60,161,259 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4731:Tom1l2
|
UTSW |
11 |
60,161,259 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4788:Tom1l2
|
UTSW |
11 |
60,139,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4937:Tom1l2
|
UTSW |
11 |
60,149,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5320:Tom1l2
|
UTSW |
11 |
60,133,648 (GRCm39) |
nonsense |
probably null |
|
|
R5367:Tom1l2
|
UTSW |
11 |
60,132,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6158:Tom1l2
|
UTSW |
11 |
60,123,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Tom1l2
|
UTSW |
11 |
60,139,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7335:Tom1l2
|
UTSW |
11 |
60,135,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7356:Tom1l2
|
UTSW |
11 |
60,139,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7376:Tom1l2
|
UTSW |
11 |
60,152,026 (GRCm39) |
missense |
probably benign |
|
|
R7544:Tom1l2
|
UTSW |
11 |
60,171,040 (GRCm39) |
small deletion |
probably benign |
|
|
R7760:Tom1l2
|
UTSW |
11 |
60,165,791 (GRCm39) |
missense |
probably benign |
|
|
R9200:Tom1l2
|
UTSW |
11 |
60,120,942 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9291:Tom1l2
|
UTSW |
11 |
60,153,556 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9394:Tom1l2
|
UTSW |
11 |
60,132,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9514:Tom1l2
|
UTSW |
11 |
60,153,486 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9622:Tom1l2
|
UTSW |
11 |
60,151,942 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9625:Tom1l2
|
UTSW |
11 |
60,161,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Tom1l2
|
UTSW |
11 |
60,132,682 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1187:Tom1l2
|
UTSW |
11 |
60,132,682 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1188:Tom1l2
|
UTSW |
11 |
60,132,682 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1189:Tom1l2
|
UTSW |
11 |
60,132,682 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1190:Tom1l2
|
UTSW |
11 |
60,132,682 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1191:Tom1l2
|
UTSW |
11 |
60,132,682 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1192:Tom1l2
|
UTSW |
11 |
60,132,682 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCGTGTATCACAGTCCC -3'
(R):5'- AGTCAACACAGGATTGTCATTCCC -3'
Sequencing Primer
(F):5'- GTGTATCACAGTCCCCATCTTACAG -3'
(R):5'- CACAGGATTGTCATTCCCAAGGAAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation