Incidental Mutation 'R3750:Tcp11l1'
| ID |
310127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tcp11l1
|
| Ensembl Gene |
ENSMUSG00000027175 |
| Gene Name |
t-complex 11 like 1 |
| Synonyms |
C130096D04Rik |
| MMRRC Submission |
040735-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R3750 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
104497587-104542525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104528887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 137
(I137T)
|
| 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: I137T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028597
Gene: ENSMUSG00000027175
AA Change: I137T
| 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: I137T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106747
Gene: ENSMUSG00000027175
AA Change: I137T
| 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: ENSMUST00000126310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137428
|
| Meta Mutation Damage Score |
0.9481 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
| Adam12 |
T |
C |
7: 133,774,594 (GRCm39) |
D5G |
probably damaging |
Het |
| Adam26b |
A |
C |
8: 43,974,234 (GRCm39) |
V256G |
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,354,837 (GRCm39) |
I125T |
probably benign |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,445,936 (GRCm39) |
N319K |
possibly damaging |
Het |
| Clcn6 |
G |
T |
4: 148,108,644 (GRCm39) |
C128* |
probably null |
Het |
| Col6a4 |
C |
A |
9: 105,897,864 (GRCm39) |
|
probably null |
Het |
| Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
| Dlg5 |
G |
A |
14: 24,215,328 (GRCm39) |
A665V |
probably damaging |
Het |
| Foxd1 |
G |
C |
13: 98,492,424 (GRCm39) |
A433P |
unknown |
Het |
| Hsd17b3 |
A |
T |
13: 64,210,993 (GRCm39) |
|
probably null |
Het |
| Kcnc4 |
A |
G |
3: 107,355,506 (GRCm39) |
V314A |
probably benign |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Marcks |
G |
A |
10: 37,016,866 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
| Nefh |
A |
G |
11: 4,889,937 (GRCm39) |
V894A |
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 59,280,331 (GRCm39) |
Y650* |
probably null |
Het |
| Plce1 |
A |
C |
19: 38,766,343 (GRCm39) |
I2109L |
probably benign |
Het |
| Pramel18 |
T |
A |
4: 101,767,073 (GRCm39) |
D107E |
possibly damaging |
Het |
| Primpol |
A |
T |
8: 47,052,848 (GRCm39) |
D154E |
probably benign |
Het |
| Relch |
C |
T |
1: 105,681,302 (GRCm39) |
T1178I |
probably damaging |
Het |
| Rtca |
A |
T |
3: 116,286,650 (GRCm39) |
F327L |
probably benign |
Het |
| Scn2a |
T |
G |
2: 65,544,115 (GRCm39) |
V832G |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Skil |
A |
G |
3: 31,170,983 (GRCm39) |
N354S |
probably benign |
Het |
| Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
| Spata31 |
G |
T |
13: 65,069,557 (GRCm39) |
L568F |
probably benign |
Het |
| Spon1 |
T |
C |
7: 113,365,621 (GRCm39) |
L19P |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 113,616,024 (GRCm39) |
V297E |
possibly damaging |
Het |
| Tas2r136 |
A |
T |
6: 132,754,200 (GRCm39) |
F309Y |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,584,350 (GRCm39) |
H22253Y |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,786,000 (GRCm39) |
N975K |
possibly damaging |
Het |
| Usp1 |
C |
T |
4: 98,822,357 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
| Zswim4 |
G |
A |
8: 84,938,676 (GRCm39) |
P1069S |
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 |
|
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'- GTTGTACAAAAGTAGAACCTTCAGG -3'
(R):5'- AAGATTTGTTACTCGATCGCCATAG -3'
Sequencing Primer
(F):5'- CCTTCAGGTTATCATGACTTGGTG -3'
(R):5'- GTCTTTAGCTTGGAGAAGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation