Incidental Mutation 'R6158:Tom1l2'
| ID |
489715 |
| 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 |
044305-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.244)
|
| Stock # |
R6158 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60117540-60243731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 60123753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 128
(D128N)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093046]
[ENSMUST00000093048]
[ENSMUST00000095254]
[ENSMUST00000102683]
|
| AlphaFold |
Q5SRX1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093046
AA Change: D387N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090734
Gene: ENSMUSG00000000538
AA Change: D387N
| 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: D392N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000090736
Gene: ENSMUSG00000000538
AA Change: D392N
| 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 benign
Transcript: ENSMUST00000095254
|
| SMART Domains |
Protein: ENSMUSP00000092884
Gene: ENSMUSG00000000538
| 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: D437N
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099744
Gene: ENSMUSG00000000538
AA Change: D437N
| 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 |
probably damaging
Transcript: ENSMUST00000133420
AA Change: D128N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117623
Gene: ENSMUSG00000000538
AA Change: D128N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
170 |
185 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143124
|
| SMART Domains |
Protein: ENSMUSP00000121936
Gene: ENSMUSG00000000538
| 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 |
0.2221 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.5%
- 20x: 92.6%
|
| Validation Efficiency |
98% (65/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,217,410 (GRCm39) |
V793A |
possibly damaging |
Het |
| 2900092C05Rik |
A |
G |
7: 12,246,599 (GRCm39) |
T32A |
probably benign |
Het |
| Adprhl1 |
C |
T |
8: 13,274,977 (GRCm39) |
V594M |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,496,220 (GRCm39) |
Y845N |
probably damaging |
Het |
| Arhgap24 |
A |
T |
5: 103,040,778 (GRCm39) |
I575L |
probably benign |
Het |
| Aurka |
A |
C |
2: 172,205,516 (GRCm39) |
|
probably null |
Het |
| C1qtnf5 |
A |
T |
9: 44,020,267 (GRCm39) |
|
probably benign |
Het |
| Cacnb2 |
A |
G |
2: 14,990,412 (GRCm39) |
D454G |
possibly damaging |
Het |
| Chchd5 |
T |
C |
2: 128,972,437 (GRCm39) |
L87P |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,793,671 (GRCm39) |
R1377L |
unknown |
Het |
| Cpne8 |
A |
C |
15: 90,456,191 (GRCm39) |
S191A |
probably damaging |
Het |
| Dhx30 |
A |
T |
9: 109,916,098 (GRCm39) |
I671N |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,495,642 (GRCm39) |
K1423N |
possibly damaging |
Het |
| Dnm3 |
T |
C |
1: 162,148,556 (GRCm39) |
M272V |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,037,411 (GRCm39) |
S3688C |
possibly damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,285,401 (GRCm39) |
L1407F |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,378,037 (GRCm39) |
S410P |
probably damaging |
Het |
| Gm11565 |
T |
A |
11: 99,805,744 (GRCm39) |
C45* |
probably null |
Het |
| Gngt1 |
A |
T |
6: 3,994,311 (GRCm39) |
R30* |
probably null |
Het |
| Htt |
T |
C |
5: 35,064,430 (GRCm39) |
I2943T |
possibly damaging |
Het |
| Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
| Lmo7 |
T |
A |
14: 102,137,573 (GRCm39) |
D247E |
probably benign |
Het |
| Mastl |
G |
T |
2: 23,022,784 (GRCm39) |
N646K |
possibly damaging |
Het |
| Mei4 |
G |
T |
9: 81,809,629 (GRCm39) |
L237F |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,969,430 (GRCm39) |
P170S |
possibly damaging |
Het |
| Mgam |
T |
A |
6: 40,734,648 (GRCm39) |
I896K |
probably damaging |
Het |
| Mix23 |
T |
A |
16: 35,910,299 (GRCm39) |
V118D |
probably damaging |
Het |
| Moxd1 |
T |
A |
10: 24,160,675 (GRCm39) |
C443S |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 113,022,038 (GRCm39) |
N451K |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,121,602 (GRCm39) |
I768V |
probably benign |
Het |
| Nos1 |
A |
C |
5: 118,005,639 (GRCm39) |
I120L |
probably benign |
Het |
| Nsd1 |
T |
C |
13: 55,393,434 (GRCm39) |
V345A |
probably benign |
Het |
| Or1j15 |
A |
T |
2: 36,459,128 (GRCm39) |
T173S |
probably benign |
Het |
| Or2aj5 |
C |
A |
16: 19,424,675 (GRCm39) |
V248F |
probably damaging |
Het |
| Or4c11c |
T |
C |
2: 88,661,490 (GRCm39) |
F10L |
probably damaging |
Het |
| Or5t15 |
A |
G |
2: 86,681,859 (GRCm39) |
L61P |
possibly damaging |
Het |
| Or8g50 |
C |
T |
9: 39,648,372 (GRCm39) |
T87I |
probably benign |
Het |
| Pdzph1 |
T |
G |
17: 59,280,622 (GRCm39) |
Q553H |
probably damaging |
Het |
| Piwil1 |
T |
A |
5: 128,824,940 (GRCm39) |
L546* |
probably null |
Het |
| Pla2g4f |
T |
C |
2: 120,131,552 (GRCm39) |
T724A |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,266,596 (GRCm39) |
M660K |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,679,767 (GRCm39) |
D103G |
possibly damaging |
Het |
| Rnf186 |
A |
G |
4: 138,694,565 (GRCm39) |
D35G |
probably damaging |
Het |
| Rock2 |
A |
G |
12: 17,004,919 (GRCm39) |
D424G |
probably benign |
Het |
| Scg2 |
A |
T |
1: 79,413,117 (GRCm39) |
D495E |
probably damaging |
Het |
| Slc39a2 |
G |
A |
14: 52,131,681 (GRCm39) |
|
probably null |
Het |
| Snrnp48 |
T |
A |
13: 38,394,212 (GRCm39) |
Y100* |
probably null |
Het |
| Spaca1 |
A |
G |
4: 34,029,176 (GRCm39) |
M99T |
probably damaging |
Het |
| Specc1 |
T |
G |
11: 62,008,950 (GRCm39) |
F235L |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,283,802 (GRCm39) |
|
probably null |
Het |
| Swap70 |
T |
A |
7: 109,869,230 (GRCm39) |
M341K |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,036,487 (GRCm39) |
D67G |
probably benign |
Het |
| Tmem135 |
T |
A |
7: 88,805,652 (GRCm39) |
I251F |
probably benign |
Het |
| Tmem87a |
A |
T |
2: 120,190,584 (GRCm39) |
|
probably null |
Het |
| Tpx2 |
C |
A |
2: 152,715,024 (GRCm39) |
H82N |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,738,733 (GRCm39) |
C738S |
possibly damaging |
Het |
| Ttyh1 |
A |
G |
7: 4,128,561 (GRCm39) |
T153A |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,566,566 (GRCm39) |
G1199S |
probably benign |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,274 (GRCm39) |
N108K |
probably benign |
Het |
| Vmn2r63 |
T |
A |
7: 42,583,104 (GRCm39) |
D37V |
probably damaging |
Het |
| Vwce |
C |
T |
19: 10,621,585 (GRCm39) |
R206C |
possibly damaging |
Het |
| Wrn |
G |
T |
8: 33,809,200 (GRCm39) |
F265L |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,363 (GRCm39) |
C479* |
probably null |
Het |
| Zfp831 |
A |
T |
2: 174,485,651 (GRCm39) |
T109S |
possibly damaging |
Het |
| Znfx1 |
G |
T |
2: 166,898,646 (GRCm39) |
Q93K |
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 |
|
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 |
|
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'- CACCAGCAGATCCATGTGTTG -3'
(R):5'- TCACATGTAGCTGCCTGTG -3'
Sequencing Primer
(F):5'- TTGGAAAGAAAGGTGAGCTTTGTG -3'
(R):5'- CCTGTGCGTGCTGTGTAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation