Incidental Mutation 'R5367:Tom1l2'
ID |
429425 |
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 |
042945-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.244)
|
Stock # |
R5367 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
60117540-60243731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 60132634 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 430
(H430Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064019]
[ENSMUST00000093046]
[ENSMUST00000093048]
[ENSMUST00000095254]
[ENSMUST00000102682]
[ENSMUST00000102683]
|
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: 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: 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 |
probably benign
Transcript: ENSMUST00000102682
AA Change: H430Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000099743 Gene: ENSMUSG00000000538 AA Change: H430Y
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: ENSMUST00000133420
|
SMART Domains |
Protein: ENSMUSP00000117623 Gene: ENSMUSG00000000538
Domain | Start | End | E-Value | Type |
low complexity region
|
170 |
185 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139025
|
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: ENSMUST00000153920
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
97% (70/72) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
T |
C |
3: 59,947,057 (GRCm39) |
Y252H |
probably damaging |
Het |
Aadat |
T |
C |
8: 60,979,630 (GRCm39) |
I164T |
probably damaging |
Het |
Adam11 |
A |
G |
11: 102,664,479 (GRCm39) |
H389R |
probably benign |
Het |
Alkbh5 |
G |
T |
11: 60,429,529 (GRCm39) |
R94L |
possibly damaging |
Het |
Ampd3 |
A |
G |
7: 110,407,078 (GRCm39) |
K644R |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,722,461 (GRCm39) |
L328H |
probably damaging |
Het |
Ankrd55 |
G |
T |
13: 112,455,036 (GRCm39) |
V45F |
probably damaging |
Het |
Apol7c |
C |
A |
15: 77,410,347 (GRCm39) |
V200F |
probably damaging |
Het |
Arap1 |
G |
A |
7: 101,058,337 (GRCm39) |
V721M |
probably damaging |
Het |
Arhgef40 |
A |
G |
14: 52,227,156 (GRCm39) |
D400G |
probably damaging |
Het |
Bmp4 |
G |
T |
14: 46,621,950 (GRCm39) |
T198K |
possibly damaging |
Het |
Cblb |
T |
A |
16: 52,025,016 (GRCm39) |
F970L |
probably damaging |
Het |
Celf5 |
A |
G |
10: 81,303,098 (GRCm39) |
S148P |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,445,486 (GRCm39) |
C1708S |
possibly damaging |
Het |
Clec2l |
T |
C |
6: 38,654,459 (GRCm39) |
F147L |
possibly damaging |
Het |
Cnksr1 |
T |
A |
4: 133,957,525 (GRCm39) |
I465F |
possibly damaging |
Het |
Coq10b |
A |
G |
1: 55,092,143 (GRCm39) |
D37G |
probably benign |
Het |
Cpq |
T |
G |
15: 33,213,250 (GRCm39) |
Y90D |
possibly damaging |
Het |
Depdc1a |
G |
A |
3: 159,229,591 (GRCm39) |
|
probably null |
Het |
Eif2ak4 |
T |
A |
2: 118,266,639 (GRCm39) |
|
probably null |
Het |
Eif3e |
C |
T |
15: 43,115,700 (GRCm39) |
M355I |
probably damaging |
Het |
Eif4e1b |
G |
A |
13: 54,934,757 (GRCm39) |
V181M |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,794,680 (GRCm39) |
E113G |
probably damaging |
Het |
Fads2 |
A |
G |
19: 10,041,649 (GRCm39) |
L438P |
probably damaging |
Het |
Fbl |
T |
A |
7: 27,874,475 (GRCm39) |
V67E |
probably damaging |
Het |
Gde1 |
A |
G |
7: 118,304,629 (GRCm39) |
L82P |
probably damaging |
Het |
Gm10226 |
T |
C |
17: 21,910,884 (GRCm39) |
S40P |
possibly damaging |
Het |
Gm10717 |
T |
G |
9: 3,026,317 (GRCm39) |
F205C |
probably damaging |
Het |
Gm1988 |
T |
A |
7: 38,823,204 (GRCm39) |
|
noncoding transcript |
Het |
Gm6728 |
T |
C |
6: 136,463,502 (GRCm39) |
|
noncoding transcript |
Het |
Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
Jag1 |
T |
A |
2: 136,927,014 (GRCm39) |
Q915L |
possibly damaging |
Het |
Kdm5d |
G |
A |
Y: 941,645 (GRCm39) |
G1282D |
probably benign |
Het |
Krt87 |
A |
T |
15: 101,384,875 (GRCm39) |
L407Q |
probably damaging |
Het |
Mlf1 |
A |
T |
3: 67,301,296 (GRCm39) |
H118L |
probably damaging |
Het |
Mmp10 |
G |
T |
9: 7,505,603 (GRCm39) |
C289F |
probably damaging |
Het |
Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
Myo9a |
T |
A |
9: 59,807,732 (GRCm39) |
S2029T |
probably damaging |
Het |
Nap1l4 |
A |
C |
7: 143,088,035 (GRCm39) |
S174R |
probably damaging |
Het |
Nos3 |
A |
G |
5: 24,576,942 (GRCm39) |
T490A |
probably benign |
Het |
Or12d2 |
T |
A |
17: 37,625,147 (GRCm39) |
I43F |
probably damaging |
Het |
Or4k35 |
T |
A |
2: 111,100,235 (GRCm39) |
Q159L |
possibly damaging |
Het |
Or5a1 |
A |
G |
19: 12,097,800 (GRCm39) |
V80A |
possibly damaging |
Het |
Or5b106 |
G |
A |
19: 13,123,865 (GRCm39) |
L53F |
probably damaging |
Het |
Or5g23 |
A |
T |
2: 85,438,718 (GRCm39) |
C179S |
probably damaging |
Het |
Pdlim7 |
G |
C |
13: 55,653,975 (GRCm39) |
T214S |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,197,802 (GRCm39) |
E1578G |
probably damaging |
Het |
Ptcd1 |
T |
A |
5: 145,084,715 (GRCm39) |
|
probably benign |
Het |
Sart3 |
C |
T |
5: 113,897,277 (GRCm39) |
|
probably null |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Scrn2 |
A |
G |
11: 96,923,953 (GRCm39) |
D279G |
possibly damaging |
Het |
Sh2d3c |
A |
G |
2: 32,635,914 (GRCm39) |
D94G |
probably damaging |
Het |
Slc12a4 |
A |
T |
8: 106,678,266 (GRCm39) |
V309E |
probably damaging |
Het |
Slc1a6 |
A |
G |
10: 78,623,637 (GRCm39) |
E12G |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,635,135 (GRCm39) |
|
probably null |
Het |
Smr3a |
T |
C |
5: 88,155,897 (GRCm39) |
|
probably benign |
Het |
Stox2 |
A |
G |
8: 47,656,260 (GRCm39) |
I72T |
probably damaging |
Het |
Tmem234 |
G |
T |
4: 129,494,500 (GRCm39) |
|
probably benign |
Het |
Tmem35b |
A |
G |
4: 127,018,266 (GRCm39) |
Q20R |
possibly damaging |
Het |
Tpo |
T |
C |
12: 30,153,289 (GRCm39) |
Y355C |
probably damaging |
Het |
Tulp2 |
A |
G |
7: 45,166,075 (GRCm39) |
N122S |
possibly damaging |
Het |
Washc2 |
T |
A |
6: 116,236,111 (GRCm39) |
L1194H |
probably damaging |
Het |
Xbp1 |
T |
C |
11: 5,471,910 (GRCm39) |
V12A |
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 |
|
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'- GTACCACTTTGATTGGCCAGG -3'
(R):5'- TGACGCAAGCACCATGAGATAG -3'
Sequencing Primer
(F):5'- GTGGCTCAGATCAGCACTTACTG -3'
(R):5'- TAGGAAAAGATTACAGGTCACAGCAC -3'
|
Posted On |
2016-09-06 |