Incidental Mutation 'IGL00730:Taf7l2'
| ID |
8485 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Taf7l2
|
| Ensembl Gene |
ENSMUSG00000074734 |
| Gene Name |
Taf7l2 |
| Synonyms |
4933416C03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL00730
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
115947572-115949607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 115948931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 198
(D198E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063470]
[ENSMUST00000099261]
|
| AlphaFold |
Q3V063 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063470
|
| SMART Domains |
Protein: ENSMUSP00000064392
Gene: ENSMUSG00000020151
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
PTPc
|
391 |
648 |
3.74e-108 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099261
AA Change: D198E
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000096867
Gene: ENSMUSG00000074734
AA Change: D198E
| Domain | Start | End | E-Value | Type |
|---|
|
TAFII55_N
|
12 |
190 |
2.27e-88 |
SMART |
|
coiled coil region
|
241 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220165
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp2 |
A |
T |
18: 80,171,247 (GRCm39) |
I1054N |
probably benign |
Het |
| Carf |
C |
T |
1: 60,186,577 (GRCm39) |
Q511* |
probably null |
Het |
| Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
| Dnaaf5 |
G |
T |
5: 139,137,423 (GRCm39) |
|
probably null |
Het |
| Gen1 |
T |
C |
12: 11,311,068 (GRCm39) |
N55D |
probably damaging |
Het |
| Gsdmc4 |
T |
A |
15: 63,769,653 (GRCm39) |
R190W |
probably damaging |
Het |
| Hsd3b5 |
A |
T |
3: 98,537,373 (GRCm39) |
S48T |
probably benign |
Het |
| Lactb2 |
T |
G |
1: 13,717,740 (GRCm39) |
|
probably benign |
Het |
| Pdzk1 |
A |
G |
3: 96,775,742 (GRCm39) |
D370G |
probably benign |
Het |
| Qtrt1 |
G |
T |
9: 21,330,845 (GRCm39) |
|
probably null |
Het |
| Tmem63c |
T |
A |
12: 87,123,980 (GRCm39) |
L486Q |
probably benign |
Het |
| Top2b |
A |
G |
14: 16,389,831 (GRCm38) |
Y223C |
probably damaging |
Het |
| Trpm2 |
T |
C |
10: 77,778,749 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Taf7l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00942:Taf7l2
|
APN |
10 |
115,949,341 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0325:Taf7l2
|
UTSW |
10 |
115,949,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0467:Taf7l2
|
UTSW |
10 |
115,949,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0534:Taf7l2
|
UTSW |
10 |
115,948,707 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1068:Taf7l2
|
UTSW |
10 |
115,949,359 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1102:Taf7l2
|
UTSW |
10 |
115,949,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1421:Taf7l2
|
UTSW |
10 |
115,949,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Taf7l2
|
UTSW |
10 |
115,949,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1834:Taf7l2
|
UTSW |
10 |
115,948,570 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3930:Taf7l2
|
UTSW |
10 |
115,948,540 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5799:Taf7l2
|
UTSW |
10 |
115,948,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5908:Taf7l2
|
UTSW |
10 |
115,949,133 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7765:Taf7l2
|
UTSW |
10 |
115,949,158 (GRCm39) |
nonsense |
probably null |
|
|
R8420:Taf7l2
|
UTSW |
10 |
115,948,440 (GRCm39) |
missense |
probably benign |
|
|
R9214:Taf7l2
|
UTSW |
10 |
115,948,903 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9430:Taf7l2
|
UTSW |
10 |
115,949,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9583:Taf7l2
|
UTSW |
10 |
115,948,931 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Posted On |
2012-12-06 |
Incidental Mutation