Incidental Mutation 'IGL02579:Tex44'
| ID |
299300 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tex44
|
| Ensembl Gene |
ENSMUSG00000036574 |
| Gene Name |
testis expressed 44 |
| Synonyms |
1700019O17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL02579
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
86354051-86355771 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86354169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 26
(N26S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046004]
[ENSMUST00000212541]
|
| AlphaFold |
Q9DA60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046004
AA Change: N26S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000136430
Gene: ENSMUSG00000036574
AA Change: N26S
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
60 |
129 |
5.56e-9 |
PROSPERO |
|
Pfam:DUF4678
|
147 |
529 |
4.3e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212541
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,005,537 (GRCm39) |
E1140G |
probably damaging |
Het |
| Alcam |
T |
C |
16: 52,091,135 (GRCm39) |
E461G |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,176,175 (GRCm39) |
|
probably benign |
Het |
| Calhm6 |
C |
A |
10: 34,003,423 (GRCm39) |
M161I |
probably benign |
Het |
| Dnmt1 |
A |
G |
9: 20,829,416 (GRCm39) |
M729T |
possibly damaging |
Het |
| Enpep |
G |
A |
3: 129,077,739 (GRCm39) |
T626M |
probably benign |
Het |
| Gje1 |
A |
T |
10: 14,592,492 (GRCm39) |
C97S |
probably benign |
Het |
| Igkv4-58 |
T |
A |
6: 69,477,385 (GRCm39) |
I71F |
probably damaging |
Het |
| Itfg1 |
G |
A |
8: 86,507,194 (GRCm39) |
T222M |
possibly damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Mtmr6 |
T |
A |
14: 60,519,378 (GRCm39) |
|
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,434,155 (GRCm39) |
I1251F |
probably damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,892 (GRCm39) |
D267G |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pold1 |
T |
C |
7: 44,192,703 (GRCm39) |
E53G |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,488,465 (GRCm39) |
D529V |
possibly damaging |
Het |
| Rgl2 |
A |
G |
17: 34,156,134 (GRCm39) |
T741A |
probably benign |
Het |
| Traf5 |
G |
T |
1: 191,731,848 (GRCm39) |
P28Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,589,433 (GRCm39) |
Y21274H |
probably damaging |
Het |
| Vmn2r76 |
T |
A |
7: 85,877,961 (GRCm39) |
K479* |
probably null |
Het |
| Zfp322a |
A |
T |
13: 23,541,613 (GRCm39) |
V43E |
probably damaging |
Het |
| Zfp385c |
C |
A |
11: 100,521,605 (GRCm39) |
G152C |
probably damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,962,868 (GRCm39) |
N177Y |
possibly damaging |
Het |
|
| Other mutations in Tex44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02683:Tex44
|
APN |
1 |
86,355,465 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0589:Tex44
|
UTSW |
1 |
86,355,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1077:Tex44
|
UTSW |
1 |
86,354,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1468:Tex44
|
UTSW |
1 |
86,354,834 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1468:Tex44
|
UTSW |
1 |
86,354,834 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1483:Tex44
|
UTSW |
1 |
86,354,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1485:Tex44
|
UTSW |
1 |
86,355,640 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1527:Tex44
|
UTSW |
1 |
86,355,368 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2058:Tex44
|
UTSW |
1 |
86,354,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2126:Tex44
|
UTSW |
1 |
86,354,811 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4394:Tex44
|
UTSW |
1 |
86,355,489 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4524:Tex44
|
UTSW |
1 |
86,355,298 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6191:Tex44
|
UTSW |
1 |
86,354,306 (GRCm39) |
unclassified |
probably benign |
|
|
R6658:Tex44
|
UTSW |
1 |
86,354,751 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6731:Tex44
|
UTSW |
1 |
86,354,207 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7526:Tex44
|
UTSW |
1 |
86,354,237 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7625:Tex44
|
UTSW |
1 |
86,354,459 (GRCm39) |
nonsense |
probably null |
|
|
R8251:Tex44
|
UTSW |
1 |
86,354,936 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8446:Tex44
|
UTSW |
1 |
86,354,696 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9369:Tex44
|
UTSW |
1 |
86,355,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9625:Tex44
|
UTSW |
1 |
86,354,253 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation