Incidental Mutation 'R4456:Tcp11l1'
| ID |
329176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcp11l1
|
| Ensembl Gene |
ENSMUSG00000027175 |
| Gene Name |
t-complex 11 like 1 |
| Synonyms |
C130096D04Rik |
| MMRRC Submission |
041716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R4456 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
104497587-104542525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104514567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 400
(V400E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028597]
[ENSMUST00000111118]
|
| AlphaFold |
Q8BTG3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028597
AA Change: V400E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028597
Gene: ENSMUSG00000027175
AA Change: V400E
| 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 damaging
Transcript: ENSMUST00000111118
AA Change: V400E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106747
Gene: ENSMUSG00000027175
AA Change: V400E
| 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
|
| Meta Mutation Damage Score |
0.6173 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
93% (42/45) |
| 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 |
| Tom1l2 |
G |
T |
11: 60,243,641 (GRCm39) |
|
probably benign |
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 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 |
|
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'- TAATCACTGCATCTTTACTGTTGCTT -3'
(R):5'- TCACAGCCTAGGAGATGAGG -3'
Sequencing Primer
(F):5'- TCCTCAGTGACAGAGTATGACCTG -3'
(R):5'- CCTAGGAGATGAGGGAGCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation