Incidental Mutation 'V8831:Tcp11l1'
ID |
44608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcp11l1
|
Ensembl Gene |
ENSMUSG00000027175 |
Gene Name |
t-complex 11 like 1 |
Synonyms |
C130096D04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
V8831 ()
of strain
710
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
104497587-104542525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 104515829 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 345
(V345L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028597]
[ENSMUST00000111118]
|
AlphaFold |
Q8BTG3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028597
AA Change: V345L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028597 Gene: ENSMUSG00000027175 AA Change: V345L
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
30 |
N/A |
INTRINSIC |
Pfam:Tcp11
|
78 |
502 |
3.9e-105 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111118
AA Change: V345L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106747 Gene: ENSMUSG00000027175 AA Change: V345L
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
30 |
N/A |
INTRINSIC |
Pfam:Tcp11
|
77 |
505 |
5.2e-134 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129571
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129792
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahsa1 |
A |
G |
12: 87,316,697 (GRCm39) |
N107S |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,347,371 (GRCm39) |
I690V |
probably benign |
Het |
Bard1 |
G |
A |
1: 71,127,376 (GRCm39) |
P78S |
probably damaging |
Het |
Ccar1 |
G |
A |
10: 62,583,185 (GRCm39) |
T976I |
unknown |
Het |
Cdc7 |
T |
A |
5: 107,116,776 (GRCm39) |
N50K |
probably benign |
Het |
Cep85 |
C |
T |
4: 133,883,380 (GRCm39) |
E170K |
possibly damaging |
Het |
Cpsf2 |
C |
T |
12: 101,969,400 (GRCm39) |
R757C |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 48,321,092 (GRCm39) |
D239E |
probably damaging |
Het |
Dnah7b |
T |
G |
1: 46,412,458 (GRCm39) |
Y4022* |
probably null |
Het |
Elmo3 |
A |
G |
8: 106,033,693 (GRCm39) |
N179S |
probably benign |
Het |
H2bc11 |
G |
C |
13: 22,227,451 (GRCm39) |
|
probably benign |
Het |
H2-T24 |
T |
A |
17: 36,328,216 (GRCm39) |
Q89L |
probably damaging |
Het |
Irak4 |
T |
C |
15: 94,459,365 (GRCm39) |
I327T |
probably damaging |
Het |
Itpr2 |
A |
T |
6: 146,287,380 (GRCm39) |
L157Q |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,059,878 (GRCm39) |
D656N |
probably benign |
Het |
Lrrc72 |
G |
T |
12: 36,258,656 (GRCm39) |
T67K |
possibly damaging |
Het |
Map2 |
T |
G |
1: 66,455,004 (GRCm39) |
I1298S |
probably damaging |
Het |
Mroh2a |
T |
TN |
1: 88,183,889 (GRCm39) |
|
probably null |
Het |
Ndst1 |
G |
A |
18: 60,835,999 (GRCm39) |
A428V |
probably damaging |
Het |
Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
Or2w1b |
T |
C |
13: 21,300,173 (GRCm39) |
Y104H |
possibly damaging |
Het |
Or5k14 |
G |
T |
16: 58,693,438 (GRCm39) |
T25K |
probably benign |
Het |
Or5p4 |
C |
T |
7: 107,680,742 (GRCm39) |
A247V |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,334,119 (GRCm39) |
V170A |
probably damaging |
Het |
Rfx6 |
G |
A |
10: 51,594,304 (GRCm39) |
|
probably null |
Het |
Shprh |
G |
A |
10: 11,062,606 (GRCm39) |
D1238N |
probably damaging |
Het |
Slc15a2 |
A |
G |
16: 36,772,445 (GRCm38) |
M179T |
probably benign |
Het |
Slc9c1 |
A |
T |
16: 45,398,262 (GRCm39) |
I676F |
possibly damaging |
Het |
Smoc1 |
A |
G |
12: 81,215,029 (GRCm39) |
D305G |
probably damaging |
Het |
Spdef |
C |
T |
17: 27,937,051 (GRCm39) |
R184H |
probably damaging |
Het |
Stxbp4 |
C |
T |
11: 90,371,497 (GRCm39) |
A535T |
probably benign |
Het |
Ticam1 |
TC |
T |
17: 56,576,969 (GRCm39) |
708 |
probably null |
Het |
Ttc28 |
A |
T |
5: 111,248,578 (GRCm39) |
Y177F |
probably benign |
Het |
Ugt2b34 |
A |
T |
5: 87,054,533 (GRCm39) |
Y83N |
probably benign |
Het |
Vmn2r30 |
G |
A |
7: 7,337,148 (GRCm39) |
R163C |
probably benign |
Het |
Xirp1 |
T |
G |
9: 120,016,907 (GRCm38) |
Q970P |
probably benign |
Het |
|
Other mutations in Tcp11l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01370:Tcp11l1
|
APN |
2 |
104,536,831 (GRCm39) |
missense |
probably benign |
|
IGL01999:Tcp11l1
|
APN |
2 |
104,528,914 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02792:Tcp11l1
|
APN |
2 |
104,512,165 (GRCm39) |
missense |
probably benign |
0.19 |
R0376:Tcp11l1
|
UTSW |
2 |
104,527,850 (GRCm39) |
splice site |
probably benign |
|
R0683:Tcp11l1
|
UTSW |
2 |
104,512,237 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0828:Tcp11l1
|
UTSW |
2 |
104,530,181 (GRCm39) |
splice site |
probably benign |
|
R2091:Tcp11l1
|
UTSW |
2 |
104,514,484 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2095:Tcp11l1
|
UTSW |
2 |
104,512,185 (GRCm39) |
missense |
probably damaging |
1.00 |
R3750:Tcp11l1
|
UTSW |
2 |
104,528,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R4456:Tcp11l1
|
UTSW |
2 |
104,514,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R4926:Tcp11l1
|
UTSW |
2 |
104,512,130 (GRCm39) |
missense |
probably benign |
0.01 |
R5184:Tcp11l1
|
UTSW |
2 |
104,530,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R5461:Tcp11l1
|
UTSW |
2 |
104,518,856 (GRCm39) |
missense |
probably benign |
0.00 |
R6979:Tcp11l1
|
UTSW |
2 |
104,536,784 (GRCm39) |
missense |
probably benign |
|
R7387:Tcp11l1
|
UTSW |
2 |
104,530,275 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7443:Tcp11l1
|
UTSW |
2 |
104,514,480 (GRCm39) |
missense |
probably benign |
0.01 |
R7872:Tcp11l1
|
UTSW |
2 |
104,536,837 (GRCm39) |
missense |
probably benign |
0.25 |
R7940:Tcp11l1
|
UTSW |
2 |
104,528,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R8399:Tcp11l1
|
UTSW |
2 |
104,515,720 (GRCm39) |
missense |
probably benign |
0.09 |
R8431:Tcp11l1
|
UTSW |
2 |
104,530,314 (GRCm39) |
missense |
probably damaging |
0.96 |
R8445:Tcp11l1
|
UTSW |
2 |
104,512,278 (GRCm39) |
missense |
probably benign |
0.02 |
R8810:Tcp11l1
|
UTSW |
2 |
104,518,763 (GRCm39) |
missense |
probably benign |
0.00 |
R8988:Tcp11l1
|
UTSW |
2 |
104,536,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R9057:Tcp11l1
|
UTSW |
2 |
104,528,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R9109:Tcp11l1
|
UTSW |
2 |
104,528,897 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9298:Tcp11l1
|
UTSW |
2 |
104,528,897 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCACAGCCACGTTGCTCATTG -3'
(R):5'- TTGGGTTTATCGCCAGACCTGC -3'
Sequencing Primer
(F):5'- CCTGTAGCTTGAACATGATAGCC -3'
(R):5'- CTGCCTGAGCTAACATGTGG -3'
|
Posted On |
2013-06-11 |