Incidental Mutation 'IGL03234:Sprtn'
| ID |
414008 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sprtn
|
| Ensembl Gene |
ENSMUSG00000031986 |
| Gene Name |
SprT-like N-terminal domain |
| Synonyms |
Gm505, LOC244666 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.950)
|
| Stock # |
IGL03234
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
125624625-125632900 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 125629888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 394
(V394M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034467]
|
| AlphaFold |
G3X912 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034467
AA Change: V394M
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034467
Gene: ENSMUSG00000031986
AA Change: V394M
| Domain | Start | End | E-Value | Type |
|---|
|
SprT
|
44 |
213 |
4.39e-72 |
SMART |
|
low complexity region
|
383 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
462 |
N/A |
INTRINSIC |
|
Blast:ZnF_Rad18
|
463 |
485 |
8e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213052
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a knock-out allele die prior to implantation. Mice homozygous for a hypomorphic allele exhibit symptoms of progeria (lordokyphosis, cataracts, cachexia, reduced total fat mass and decreased exercise performance). [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa1 |
A |
G |
19: 20,354,965 (GRCm39) |
|
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,191,845 (GRCm39) |
I466V |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,091,834 (GRCm39) |
K207E |
probably benign |
Het |
| Armh4 |
T |
C |
14: 50,005,973 (GRCm39) |
E574G |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,225,987 (GRCm39) |
F312L |
probably damaging |
Het |
| Cwf19l1 |
A |
G |
19: 44,115,809 (GRCm39) |
Y207H |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,076,087 (GRCm39) |
D673G |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,753,610 (GRCm39) |
S670P |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,732,842 (GRCm39) |
P3081S |
probably benign |
Het |
| Mtrex |
T |
C |
13: 113,017,509 (GRCm39) |
|
probably benign |
Het |
| N4bp2l2 |
G |
A |
5: 150,574,191 (GRCm39) |
Q75* |
probably null |
Het |
| Naip5 |
A |
T |
13: 100,349,135 (GRCm39) |
S1398T |
probably damaging |
Het |
| Nav2 |
T |
C |
7: 49,111,756 (GRCm39) |
V754A |
possibly damaging |
Het |
| Nox4 |
T |
C |
7: 86,966,521 (GRCm39) |
|
probably null |
Het |
| Pramel25 |
A |
G |
4: 143,521,506 (GRCm39) |
E374G |
probably benign |
Het |
| Prox1 |
T |
C |
1: 189,893,833 (GRCm39) |
Y204C |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,916,717 (GRCm39) |
S114G |
probably benign |
Het |
| Tars3 |
T |
A |
7: 65,302,026 (GRCm39) |
H183Q |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,343,177 (GRCm39) |
C1147R |
probably damaging |
Het |
| Uba7 |
G |
A |
9: 107,853,599 (GRCm39) |
R143Q |
probably damaging |
Het |
| Zp1 |
A |
G |
19: 10,892,187 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sprtn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Sprtn
|
APN |
8 |
125,627,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02735:Sprtn
|
APN |
8 |
125,630,126 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02740:Sprtn
|
APN |
8 |
125,625,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Sprtn
|
UTSW |
8 |
125,626,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Sprtn
|
UTSW |
8 |
125,625,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Sprtn
|
UTSW |
8 |
125,628,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1808:Sprtn
|
UTSW |
8 |
125,629,770 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6390:Sprtn
|
UTSW |
8 |
125,629,958 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6474:Sprtn
|
UTSW |
8 |
125,625,873 (GRCm39) |
nonsense |
probably null |
|
|
R7163:Sprtn
|
UTSW |
8 |
125,625,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7239:Sprtn
|
UTSW |
8 |
125,626,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7779:Sprtn
|
UTSW |
8 |
125,624,982 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8321:Sprtn
|
UTSW |
8 |
125,629,994 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8493:Sprtn
|
UTSW |
8 |
125,629,933 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9731:Sprtn
|
UTSW |
8 |
125,629,704 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Sprtn
|
UTSW |
8 |
125,625,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation