Incidental Mutation 'R0025:Tom1l2'
| ID |
15124 |
| 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 |
038320-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R0025 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60117540-60243731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60120960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 450
(K450E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093046]
[ENSMUST00000093048]
[ENSMUST00000095254]
[ENSMUST00000102683]
|
| AlphaFold |
Q5SRX1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093046
AA Change: K445E
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090734
Gene: ENSMUSG00000000538
AA Change: K445E
| 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 |
probably damaging
Transcript: ENSMUST00000093048
AA Change: K450E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090736
Gene: ENSMUSG00000000538
AA Change: K450E
| 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 |
possibly damaging
Transcript: ENSMUST00000095254
AA Change: K475E
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092884
Gene: ENSMUSG00000000538
AA Change: K475E
| 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 |
possibly damaging
Transcript: ENSMUST00000102683
AA Change: K495E
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099744
Gene: ENSMUSG00000000538
AA Change: K495E
| 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 |
unknown
Transcript: ENSMUST00000133420
AA Change: K186E
|
| SMART Domains |
Protein: ENSMUSP00000117623
Gene: ENSMUSG00000000538
AA Change: K186E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
170 |
185 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000143124
AA Change: K166E
|
| SMART Domains |
Protein: ENSMUSP00000121936
Gene: ENSMUSG00000000538
AA Change: K166E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153920
|
| Meta Mutation Damage Score |
0.1527 |
| Coding Region Coverage |
- 1x: 75.6%
- 3x: 62.5%
- 10x: 33.3%
- 20x: 15.9%
|
| Validation Efficiency |
95% (69/73) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
A |
T |
7: 119,257,538 (GRCm39) |
T435S |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,648,014 (GRCm39) |
T602I |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,749,154 (GRCm39) |
D231V |
probably damaging |
Het |
| Ampd3 |
G |
A |
7: 110,392,876 (GRCm39) |
D215N |
probably benign |
Het |
| Ate1 |
A |
G |
7: 130,105,523 (GRCm39) |
S332P |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 93,998,513 (GRCm39) |
E161G |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,692,628 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
T |
G |
8: 113,529,796 (GRCm39) |
L668R |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Csf1 |
A |
G |
3: 107,655,960 (GRCm39) |
V245A |
probably benign |
Het |
| Ctss |
A |
G |
3: 95,457,448 (GRCm39) |
Y302C |
probably damaging |
Het |
| Dbt |
C |
T |
3: 116,328,432 (GRCm39) |
H158Y |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,070,386 (GRCm39) |
I428V |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,860,781 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
G |
T |
9: 106,790,467 (GRCm39) |
Q1419K |
possibly damaging |
Het |
| Enpp6 |
A |
G |
8: 47,519,035 (GRCm39) |
K268E |
probably damaging |
Het |
| Eps15l1 |
T |
G |
8: 73,135,341 (GRCm39) |
|
probably benign |
Het |
| Gm10800 |
C |
A |
2: 98,496,925 (GRCm39) |
M209I |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,851,293 (GRCm39) |
P514L |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,263,287 (GRCm39) |
D160G |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,821,529 (GRCm39) |
|
probably null |
Het |
| Mink1 |
T |
C |
11: 70,503,868 (GRCm39) |
W1263R |
probably damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,780,465 (GRCm39) |
|
probably benign |
Het |
| Osbp |
T |
C |
19: 11,961,322 (GRCm39) |
Y454H |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 135,942,704 (GRCm39) |
K479E |
possibly damaging |
Het |
| Pard3 |
C |
A |
8: 127,888,058 (GRCm39) |
D73E |
probably damaging |
Het |
| Pmp22 |
A |
T |
11: 63,049,076 (GRCm39) |
|
probably null |
Het |
| Scn4a |
C |
T |
11: 106,215,386 (GRCm39) |
V1197I |
probably benign |
Het |
| Slc36a2 |
A |
G |
11: 55,053,621 (GRCm39) |
L339P |
probably damaging |
Het |
| Smg1 |
G |
A |
7: 117,811,666 (GRCm39) |
T104I |
possibly damaging |
Het |
| Stx18 |
T |
A |
5: 38,249,908 (GRCm39) |
Y74N |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,638,492 (GRCm39) |
H1102Q |
probably damaging |
Het |
| Tpo |
T |
C |
12: 30,150,389 (GRCm39) |
Q497R |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,849,978 (GRCm39) |
|
probably benign |
Het |
| Tut7 |
A |
T |
13: 59,953,142 (GRCm39) |
D99E |
probably benign |
Het |
| Vit |
G |
A |
17: 78,907,264 (GRCm39) |
G229R |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,659,775 (GRCm39) |
I2658N |
probably benign |
Het |
| Wdr36 |
T |
A |
18: 32,992,360 (GRCm39) |
D632E |
probably damaging |
Het |
| Zfp654 |
A |
G |
16: 64,605,181 (GRCm39) |
V466A |
probably benign |
Het |
| Zfp941 |
T |
C |
7: 140,393,185 (GRCm39) |
D58G |
probably benign |
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 |
|
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 |
|
R4713: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 |
|
| Posted On |
2012-12-12 |
Incidental Mutation