Incidental Mutation 'R6152:Tysnd1'
| ID |
489340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tysnd1
|
| Ensembl Gene |
ENSMUSG00000020087 |
| Gene Name |
trypsin domain containing 1 |
| Synonyms |
1300019N10Rik |
| MMRRC Submission |
044299-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R6152 (G1)
|
| Quality Score |
184.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
61531293-61538552 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61532113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 255
(D255G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020284]
[ENSMUST00000020285]
[ENSMUST00000218135]
[ENSMUST00000219506]
|
| AlphaFold |
Q9DBA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020284
AA Change: D255G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020284
Gene: ENSMUSG00000020087
AA Change: D255G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
119 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
284 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
334 |
521 |
3.32e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020285
|
| SMART Domains |
Protein: ENSMUSP00000020285
Gene: ENSMUSG00000020088
| Domain | Start | End | E-Value | Type |
|---|
|
SAR
|
9 |
197 |
7.79e-99 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218135
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218280
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219174
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219768
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded protein is also capable of removing the C-terminal peroxisomal targeting signal (PTS1) from proteins in the peroxisomal matrix. The full-length protein undergoes self-cleavage to produce shorter, potentially inactive, peptides. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with globozoospermia, hypoactivity, absence acrosomal cap, indicators of liver damage, abnormal hepatocyte peroxisomes and autophagosomes and enlarged, beige livers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,204,187 (GRCm39) |
C363R |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Anln |
A |
C |
9: 22,271,803 (GRCm39) |
I684R |
probably damaging |
Het |
| Atoh7 |
A |
T |
10: 62,936,278 (GRCm39) |
D115V |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,896,100 (GRCm39) |
I223K |
probably damaging |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,961,419 (GRCm39) |
C345S |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,823,358 (GRCm39) |
E1003G |
possibly damaging |
Het |
| Chpf |
C |
T |
1: 75,452,287 (GRCm39) |
R389H |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,593,881 (GRCm39) |
D740G |
possibly damaging |
Het |
| Col19a1 |
T |
C |
1: 24,413,702 (GRCm39) |
T411A |
unknown |
Het |
| Dgat2 |
T |
C |
7: 98,813,885 (GRCm39) |
N99S |
probably benign |
Het |
| Fbxo7 |
A |
T |
10: 85,860,560 (GRCm39) |
T56S |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,974,950 (GRCm39) |
Q71L |
unknown |
Het |
| Gpr161 |
T |
A |
1: 165,137,864 (GRCm39) |
V150E |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,441,176 (GRCm39) |
E5360G |
probably damaging |
Het |
| Hmg20a |
A |
G |
9: 56,388,892 (GRCm39) |
D153G |
probably damaging |
Het |
| Hrct1 |
T |
A |
4: 43,727,498 (GRCm39) |
V46D |
possibly damaging |
Het |
| Idh1 |
T |
C |
1: 65,198,689 (GRCm39) |
T394A |
probably damaging |
Het |
| Kazn |
A |
G |
4: 141,836,598 (GRCm39) |
I547T |
unknown |
Het |
| Klhdc3 |
A |
T |
17: 46,988,633 (GRCm39) |
I142N |
probably damaging |
Het |
| Lrrc39 |
G |
T |
3: 116,364,624 (GRCm39) |
|
probably null |
Het |
| Mamdc4 |
T |
C |
2: 25,457,451 (GRCm39) |
D510G |
probably damaging |
Het |
| Mcm2 |
TTCTGATAGATGGTCTG |
TTCTG |
6: 88,866,891 (GRCm39) |
|
probably benign |
Het |
| Ndfip2 |
A |
G |
14: 105,535,538 (GRCm39) |
I275V |
possibly damaging |
Het |
| Or1i2 |
T |
C |
10: 78,448,409 (GRCm39) |
D22G |
probably benign |
Het |
| Or5b24 |
A |
T |
19: 12,912,851 (GRCm39) |
I250L |
probably benign |
Het |
| Pacsin2 |
A |
C |
15: 83,261,900 (GRCm39) |
D154E |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,886 (GRCm39) |
C755* |
probably null |
Het |
| Pcnx2 |
T |
C |
8: 126,480,491 (GRCm39) |
S1939G |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,825,985 (GRCm39) |
H602Q |
probably benign |
Het |
| Pon3 |
G |
A |
6: 5,221,716 (GRCm39) |
R305C |
probably damaging |
Het |
| Prpf6 |
A |
G |
2: 181,263,580 (GRCm39) |
R147G |
probably damaging |
Het |
| Sh3yl1 |
A |
G |
12: 30,992,034 (GRCm39) |
E201G |
probably benign |
Het |
| Slc25a36 |
A |
G |
9: 96,982,210 (GRCm39) |
Y22H |
probably damaging |
Het |
| Sult6b2 |
A |
C |
6: 142,750,102 (GRCm39) |
S5R |
probably benign |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Zbtb6 |
A |
C |
2: 37,319,255 (GRCm39) |
I224M |
probably benign |
Het |
| Zdhhc8 |
G |
T |
16: 18,041,202 (GRCm39) |
N719K |
possibly damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,946,260 (GRCm39) |
E45G |
possibly damaging |
Het |
|
| Other mutations in Tysnd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01420:Tysnd1
|
APN |
10 |
61,537,830 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3846:Tysnd1
|
UTSW |
10 |
61,531,867 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4536:Tysnd1
|
UTSW |
10 |
61,531,832 (GRCm39) |
nonsense |
probably null |
|
|
R4645:Tysnd1
|
UTSW |
10 |
61,531,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4952:Tysnd1
|
UTSW |
10 |
61,537,855 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5050:Tysnd1
|
UTSW |
10 |
61,532,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5338:Tysnd1
|
UTSW |
10 |
61,532,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7299:Tysnd1
|
UTSW |
10 |
61,532,328 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7301:Tysnd1
|
UTSW |
10 |
61,532,328 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7358:Tysnd1
|
UTSW |
10 |
61,532,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:Tysnd1
|
UTSW |
10 |
61,531,665 (GRCm39) |
missense |
probably benign |
|
|
R7844:Tysnd1
|
UTSW |
10 |
61,537,944 (GRCm39) |
nonsense |
probably null |
|
|
R8444:Tysnd1
|
UTSW |
10 |
61,531,950 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCGATCAATGGCACTTCGTAAGC -3'
(R):5'- GTGTAGCGGAGTGTACCAAC -3'
Sequencing Primer
(F):5'- ACTTCGTAAGCTCGGCG -3'
(R):5'- TGTACCAACACCCTGGCTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation