Incidental Mutation 'R0683:Tcp11l1'
ID |
61040 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcp11l1
|
Ensembl Gene |
ENSMUSG00000027175 |
Gene Name |
t-complex 11 like 1 |
Synonyms |
C130096D04Rik |
MMRRC Submission |
038868-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
R0683 (G1)
|
Quality Score |
110 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
104497587-104542525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104512237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 465
(V465E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028597]
[ENSMUST00000111118]
|
AlphaFold |
Q8BTG3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028597
AA Change: V465E
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000028597 Gene: ENSMUSG00000027175 AA Change: V465E
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
30 |
N/A |
INTRINSIC |
Pfam:Tcp11
|
78 |
502 |
3.9e-105 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111118
AA Change: V465E
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106747 Gene: ENSMUSG00000027175 AA Change: V465E
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
Atg16l2 |
T |
C |
7: 100,939,591 (GRCm39) |
D533G |
probably damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Eif3i |
G |
T |
4: 129,487,328 (GRCm39) |
N162K |
probably benign |
Het |
Exoc8 |
A |
G |
8: 125,622,372 (GRCm39) |
I665T |
probably damaging |
Het |
Ggt7 |
A |
G |
2: 155,348,428 (GRCm39) |
S75P |
probably benign |
Het |
Gjd3 |
A |
T |
11: 102,691,237 (GRCm39) |
F255L |
probably benign |
Het |
Krt1 |
A |
G |
15: 101,758,901 (GRCm39) |
F88L |
unknown |
Het |
Maml3 |
G |
A |
3: 51,764,173 (GRCm39) |
Q264* |
probably null |
Het |
Ncoa4-ps |
T |
C |
12: 119,224,813 (GRCm39) |
|
noncoding transcript |
Het |
Neu1 |
A |
T |
17: 35,153,301 (GRCm39) |
|
probably null |
Het |
Nrp2 |
A |
G |
1: 62,783,477 (GRCm39) |
T193A |
probably benign |
Het |
Or4c12b |
C |
G |
2: 89,647,522 (GRCm39) |
P278R |
probably damaging |
Het |
P4ha1 |
A |
G |
10: 59,172,969 (GRCm39) |
T23A |
probably benign |
Het |
Pgm1 |
A |
G |
4: 99,818,740 (GRCm39) |
I112V |
probably damaging |
Het |
Ptprs |
A |
T |
17: 56,721,086 (GRCm39) |
V1385D |
probably damaging |
Het |
Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
Serpinb13 |
A |
G |
1: 106,926,751 (GRCm39) |
N249S |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,255,950 (GRCm39) |
T923A |
probably benign |
Het |
Speg |
G |
A |
1: 75,405,762 (GRCm39) |
A2989T |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,768,653 (GRCm39) |
T2973I |
unknown |
Het |
Vav3 |
C |
A |
3: 109,559,129 (GRCm39) |
Q110K |
probably benign |
Het |
Xcr1 |
T |
C |
9: 123,684,940 (GRCm39) |
D274G |
probably benign |
Het |
Zfp763 |
G |
A |
17: 33,237,892 (GRCm39) |
P418S |
probably damaging |
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 |
|
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 |
V8831:Tcp11l1
|
UTSW |
2 |
104,515,829 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AATGTACCGTAGGCCGCCATTC -3'
(R):5'- TTCCCCGAGAAAGAGATGACTCCC -3'
Sequencing Primer
(F):5'- GCCGCCATTCTCCGAAG -3'
(R):5'- cgagaaagagatgactcccttaac -3'
|
Posted On |
2013-07-30 |