Incidental Mutation 'R5320:Tom1l2'
| ID |
406069 |
| 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 |
042903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R5320 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60117540-60243731 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 60133648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 54
(L54*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064019]
[ENSMUST00000093046]
[ENSMUST00000093048]
[ENSMUST00000095254]
[ENSMUST00000102682]
[ENSMUST00000102683]
|
| AlphaFold |
Q5SRX1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064019
AA Change: L363*
|
| SMART Domains |
Protein: ENSMUSP00000063414
Gene: ENSMUSG00000000538
AA Change: L363*
| 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 null
Transcript: ENSMUST00000093046
AA Change: L313*
|
| SMART Domains |
Protein: ENSMUSP00000090734
Gene: ENSMUSG00000000538
AA Change: L313*
| 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 null
Transcript: ENSMUST00000093048
AA Change: L318*
|
| SMART Domains |
Protein: ENSMUSP00000090736
Gene: ENSMUSG00000000538
AA Change: L318*
| 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 null
Transcript: ENSMUST00000095254
AA Change: L363*
|
| SMART Domains |
Protein: ENSMUSP00000092884
Gene: ENSMUSG00000000538
AA Change: L363*
| 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 null
Transcript: ENSMUST00000102682
AA Change: L363*
|
| SMART Domains |
Protein: ENSMUSP00000099743
Gene: ENSMUSG00000000538
AA Change: L363*
| 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 null
Transcript: ENSMUST00000102683
AA Change: L363*
|
| SMART Domains |
Protein: ENSMUSP00000099744
Gene: ENSMUSG00000000538
AA Change: L363*
| 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 null
Transcript: ENSMUST00000133420
AA Change: L33*
|
| SMART Domains |
Protein: ENSMUSP00000117623
Gene: ENSMUSG00000000538
AA Change: L33*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
170 |
185 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000143124
AA Change: L54*
|
| SMART Domains |
Protein: ENSMUSP00000121936
Gene: ENSMUSG00000000538
AA Change: L54*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153920
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.4%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,526,541 (GRCm39) |
I581N |
probably damaging |
Het |
| Abcb10 |
A |
G |
8: 124,697,763 (GRCm39) |
F187S |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,808,203 (GRCm39) |
V842E |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,307,291 (GRCm39) |
D1367G |
probably benign |
Het |
| Aoc1l1 |
T |
A |
6: 48,952,474 (GRCm39) |
L133Q |
probably damaging |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,509 (GRCm39) |
F172L |
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,717,509 (GRCm39) |
H362L |
possibly damaging |
Het |
| Bmpr1a |
C |
T |
14: 34,146,999 (GRCm39) |
V258M |
probably damaging |
Het |
| Bptf |
T |
A |
11: 106,972,193 (GRCm39) |
K892* |
probably null |
Het |
| Cap2 |
A |
G |
13: 46,801,840 (GRCm39) |
*422W |
probably null |
Het |
| Cars2 |
G |
T |
8: 11,567,854 (GRCm39) |
H414N |
probably benign |
Het |
| Ccnt1 |
A |
C |
15: 98,442,124 (GRCm39) |
S381R |
probably benign |
Het |
| Cdyl2 |
A |
T |
8: 117,321,794 (GRCm39) |
C244* |
probably null |
Het |
| Cers2 |
A |
G |
3: 95,228,305 (GRCm39) |
E115G |
probably null |
Het |
| Cpt1b |
G |
A |
15: 89,303,477 (GRCm39) |
P553S |
probably benign |
Het |
| Cuedc1 |
A |
G |
11: 88,068,136 (GRCm39) |
E128G |
probably damaging |
Het |
| Dll4 |
T |
A |
2: 119,156,968 (GRCm39) |
V80D |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,536,874 (GRCm39) |
L113P |
probably damaging |
Het |
| Fam98a |
A |
G |
17: 75,845,810 (GRCm39) |
I312T |
probably damaging |
Het |
| Gnrhr |
T |
G |
5: 86,345,473 (GRCm39) |
K71T |
possibly damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,445,032 (GRCm39) |
L674Q |
probably damaging |
Het |
| Hipk2 |
A |
T |
6: 38,795,212 (GRCm39) |
H352Q |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,313,115 (GRCm39) |
V1785A |
probably damaging |
Het |
| Hspa4 |
A |
T |
11: 53,153,810 (GRCm39) |
I687N |
probably damaging |
Het |
| Krt18 |
A |
T |
15: 101,936,955 (GRCm39) |
D81V |
probably damaging |
Het |
| Lama3 |
A |
C |
18: 12,685,912 (GRCm39) |
D1142A |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,766,727 (GRCm39) |
I713T |
possibly damaging |
Het |
| Man2b2 |
T |
A |
5: 36,967,677 (GRCm39) |
Y897F |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,738 (GRCm39) |
I1895F |
unknown |
Het |
| Myh8 |
G |
A |
11: 67,177,089 (GRCm39) |
V414I |
probably damaging |
Het |
| Myo1d |
A |
T |
11: 80,575,149 (GRCm39) |
|
probably null |
Het |
| Nav2 |
A |
T |
7: 49,141,121 (GRCm39) |
M889L |
probably benign |
Het |
| Oc90 |
C |
T |
15: 65,754,457 (GRCm39) |
G236D |
probably benign |
Het |
| Or13a27 |
A |
G |
7: 139,925,548 (GRCm39) |
V118A |
probably benign |
Het |
| Pak4 |
A |
G |
7: 28,267,631 (GRCm39) |
I11T |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,615,787 (GRCm39) |
I173T |
probably damaging |
Het |
| Pcsk9 |
A |
T |
4: 106,320,988 (GRCm39) |
D40E |
probably benign |
Het |
| Pdzrn3 |
G |
C |
6: 101,128,064 (GRCm39) |
H867Q |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,094,696 (GRCm39) |
I174F |
possibly damaging |
Het |
| Pom121l2 |
G |
A |
13: 22,166,015 (GRCm39) |
W95* |
probably null |
Het |
| Prcp |
A |
T |
7: 92,577,843 (GRCm39) |
T336S |
probably benign |
Het |
| Prdm11 |
A |
C |
2: 92,843,226 (GRCm39) |
S78A |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,435,224 (GRCm39) |
I405T |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,902,478 (GRCm39) |
R1208G |
probably damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,458,864 (GRCm39) |
|
probably null |
Het |
| Rb1 |
A |
T |
14: 73,450,566 (GRCm39) |
Y599* |
probably null |
Het |
| Rnf141 |
A |
T |
7: 110,433,010 (GRCm39) |
F62L |
probably damaging |
Het |
| Rsl24d1 |
T |
A |
9: 73,023,698 (GRCm39) |
F292I |
possibly damaging |
Het |
| Scn10a |
C |
T |
9: 119,477,175 (GRCm39) |
V736I |
probably damaging |
Het |
| Sim2 |
A |
T |
16: 93,905,598 (GRCm39) |
T141S |
probably benign |
Het |
| Slc6a15 |
G |
T |
10: 103,244,067 (GRCm39) |
V436L |
probably damaging |
Het |
| Smarca2 |
T |
C |
19: 26,668,772 (GRCm39) |
S924P |
probably damaging |
Het |
| Tacc1 |
T |
C |
8: 25,671,881 (GRCm39) |
E449G |
probably benign |
Het |
| Tlr3 |
A |
T |
8: 45,852,137 (GRCm39) |
N253K |
possibly damaging |
Het |
| Tmem198 |
G |
A |
1: 75,456,500 (GRCm39) |
A82T |
probably benign |
Het |
| Trav12-2 |
A |
G |
14: 53,854,356 (GRCm39) |
Y110C |
probably benign |
Het |
| Trdn |
T |
A |
10: 33,209,247 (GRCm39) |
|
probably null |
Het |
| Trim36 |
G |
T |
18: 46,300,565 (GRCm39) |
P690Q |
probably damaging |
Het |
| Trpc4 |
A |
T |
3: 54,206,599 (GRCm39) |
M600L |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,759,355 (GRCm39) |
Q1143L |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,283,739 (GRCm39) |
D144E |
probably benign |
Het |
| Vps18 |
A |
T |
2: 119,127,858 (GRCm39) |
R894* |
probably null |
Het |
| Vwa1 |
A |
G |
4: 155,855,369 (GRCm39) |
V248A |
probably benign |
Het |
| Wdr75 |
T |
C |
1: 45,838,211 (GRCm39) |
V40A |
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 |
|
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 |
|
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'- TGTGACCATGCTGGGACAAC -3'
(R):5'- AGTGTCGTAACCCACTAGACTAC -3'
Sequencing Primer
(F):5'- CACCCCCTCACCCACTAATATCTG -3'
(R):5'- TTTTGGGGGCACTCCATCAAAAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation