Incidental Mutation 'R4456:Tom1l2'
ID |
329197 |
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 |
041716-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R4456 (G1)
|
Quality Score |
130 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
60117540-60243731 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to T
at 60243641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064019]
[ENSMUST00000070805]
[ENSMUST00000093046]
[ENSMUST00000093048]
[ENSMUST00000094140]
[ENSMUST00000095254]
[ENSMUST00000108722]
[ENSMUST00000102682]
[ENSMUST00000102683]
[ENSMUST00000108723]
|
AlphaFold |
Q5SRX1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064019
|
SMART Domains |
Protein: ENSMUSP00000063414 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 |
1.7e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070805
|
SMART Domains |
Protein: ENSMUSP00000065525 Gene: ENSMUSG00000056598
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
LRR
|
86 |
106 |
9.24e1 |
SMART |
LRR
|
108 |
129 |
1.71e1 |
SMART |
LRR
|
130 |
153 |
1.49e1 |
SMART |
|
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 |
probably benign
Transcript: ENSMUST00000093048
|
SMART Domains |
Protein: ENSMUSP00000090736 Gene: ENSMUSG00000000538
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: ENSMUST00000094140
|
SMART Domains |
Protein: ENSMUSP00000091691 Gene: ENSMUSG00000056598
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
LRR
|
86 |
106 |
9.24e1 |
SMART |
LRR
|
108 |
129 |
1.71e1 |
SMART |
LRR
|
130 |
153 |
1.49e1 |
SMART |
low complexity region
|
216 |
235 |
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 |
noncoding transcript
Transcript: ENSMUST00000142225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128905
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108722
|
SMART Domains |
Protein: ENSMUSP00000104362 Gene: ENSMUSG00000056598
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
LRR
|
86 |
106 |
9.24e1 |
SMART |
LRR
|
108 |
129 |
1.71e1 |
SMART |
LRR
|
130 |
153 |
1.49e1 |
SMART |
low complexity region
|
216 |
235 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102682
|
SMART Domains |
Protein: ENSMUSP00000099743 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 |
1.7e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102683
|
SMART Domains |
Protein: ENSMUSP00000099744 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
|
232 |
308 |
1e-26 |
PFAM |
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108723
|
SMART Domains |
Protein: ENSMUSP00000104363 Gene: ENSMUSG00000056598
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
LRR
|
86 |
106 |
9.24e1 |
SMART |
LRR
|
108 |
129 |
1.71e1 |
SMART |
LRR
|
130 |
153 |
1.49e1 |
SMART |
low complexity region
|
216 |
235 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
93% (42/45) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,833,071 (GRCm39) |
F1210L |
probably benign |
Het |
Amfr |
C |
T |
8: 94,711,568 (GRCm39) |
A323T |
possibly damaging |
Het |
Apob |
T |
A |
12: 8,065,445 (GRCm39) |
I4105N |
probably damaging |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Cdc42ep1 |
A |
G |
15: 78,734,091 (GRCm39) |
E397G |
possibly damaging |
Het |
Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
Dnmt1 |
T |
C |
9: 20,821,138 (GRCm39) |
T1250A |
probably damaging |
Het |
Dst |
A |
T |
1: 34,229,800 (GRCm39) |
K2642N |
probably benign |
Het |
Emcn |
A |
T |
3: 137,085,608 (GRCm39) |
K69* |
probably null |
Het |
Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
Fbxo38 |
G |
T |
18: 62,659,320 (GRCm39) |
R326S |
probably damaging |
Het |
Fcer1g |
A |
G |
1: 171,061,808 (GRCm39) |
S3P |
probably benign |
Het |
Glp1r |
G |
T |
17: 31,137,949 (GRCm39) |
E127* |
probably null |
Het |
Gnmt |
G |
T |
17: 47,039,910 (GRCm39) |
H56Q |
probably benign |
Het |
Hectd4 |
C |
T |
5: 121,446,334 (GRCm39) |
T1513I |
possibly damaging |
Het |
Hsd3b1 |
G |
A |
3: 98,763,459 (GRCm39) |
T48I |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,515,210 (GRCm39) |
C2878S |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,486,785 (GRCm39) |
Y1290C |
probably damaging |
Het |
Mkln1 |
A |
G |
6: 31,403,707 (GRCm39) |
Y76C |
probably damaging |
Het |
Mri1 |
C |
A |
8: 84,983,035 (GRCm39) |
A129S |
probably benign |
Het |
Mroh2b |
A |
T |
15: 4,977,407 (GRCm39) |
H1253L |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mthfsd |
C |
T |
8: 121,832,504 (GRCm39) |
V63I |
possibly damaging |
Het |
Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
Nbea |
A |
G |
3: 55,551,205 (GRCm39) |
V2653A |
probably benign |
Het |
Nckap5 |
A |
T |
1: 125,842,472 (GRCm39) |
|
probably benign |
Het |
Notch4 |
G |
A |
17: 34,802,807 (GRCm39) |
V1378M |
probably damaging |
Het |
Or51a42 |
A |
G |
7: 103,708,507 (GRCm39) |
S101P |
possibly damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rasl12 |
A |
G |
9: 65,305,866 (GRCm39) |
K7R |
probably null |
Het |
Rnf4 |
A |
G |
5: 34,508,705 (GRCm39) |
Y189C |
probably benign |
Het |
Shroom3 |
A |
G |
5: 93,088,858 (GRCm39) |
H536R |
probably benign |
Het |
Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
Tbc1d5 |
A |
C |
17: 51,089,369 (GRCm39) |
S604A |
probably damaging |
Het |
Tcp11l1 |
A |
T |
2: 104,514,567 (GRCm39) |
V400E |
probably damaging |
Het |
Ttc28 |
AC |
A |
5: 111,371,924 (GRCm39) |
|
probably null |
Het |
Txndc15 |
A |
G |
13: 55,865,977 (GRCm39) |
D147G |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTCCACCTTTGAGATGAC -3'
(R):5'- ACTGAGAGTGGAGTGTCGTC -3'
Sequencing Primer
(F):5'- CACCTTTGAGATGACACCACTTATTG -3'
(R):5'- AGTGTCGTCCAATCGGAAGTG -3'
|
Posted On |
2015-07-21 |