Incidental Mutation 'R6474:Sprtn'
| ID |
516736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sprtn
|
| Ensembl Gene |
ENSMUSG00000031986 |
| Gene Name |
SprT-like N-terminal domain |
| Synonyms |
Gm505, LOC244666 |
| MMRRC Submission |
044607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R6474 (G1)
|
| Quality Score |
183.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
125624625-125632900 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 125625873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 95
(E95*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034467]
[ENSMUST00000098312]
|
| AlphaFold |
G3X912 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034467
AA Change: E95*
|
| SMART Domains |
Protein: ENSMUSP00000034467
Gene: ENSMUSG00000031986
AA Change: E95*
| 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 |
probably benign
Transcript: ENSMUST00000098312
|
| SMART Domains |
Protein: ENSMUSP00000095915
Gene: ENSMUSG00000074030
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps51
|
13 |
99 |
7.1e-21 |
PFAM |
|
PH
|
174 |
275 |
2.07e-6 |
SMART |
|
low complexity region
|
279 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
319 |
N/A |
INTRINSIC |
|
Pfam:Exo84_C
|
326 |
531 |
6.8e-59 |
PFAM |
|
low complexity region
|
633 |
646 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213052
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
100% (35/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
A |
8: 71,914,359 (GRCm39) |
N90Y |
probably damaging |
Het |
| Alkal1 |
T |
C |
1: 6,459,670 (GRCm39) |
V82A |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,624,932 (GRCm39) |
S1607P |
probably benign |
Het |
| Ccny |
A |
T |
18: 9,345,427 (GRCm39) |
L149H |
probably damaging |
Het |
| Clptm1 |
T |
C |
7: 19,369,762 (GRCm39) |
N383D |
possibly damaging |
Het |
| Clrn2 |
T |
A |
5: 45,621,074 (GRCm39) |
M156K |
probably benign |
Het |
| Coro2b |
T |
A |
9: 62,333,910 (GRCm39) |
H328L |
probably benign |
Het |
| Echs1 |
A |
T |
7: 139,688,055 (GRCm39) |
M250K |
probably benign |
Het |
| Ecsit |
A |
G |
9: 21,985,981 (GRCm39) |
V145A |
possibly damaging |
Het |
| Fas |
G |
A |
19: 34,293,969 (GRCm39) |
G108D |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,424,964 (GRCm39) |
W2R |
probably damaging |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Grik2 |
C |
T |
10: 49,008,776 (GRCm39) |
M770I |
probably benign |
Het |
| Hcst |
T |
C |
7: 30,117,250 (GRCm39) |
N74S |
probably damaging |
Het |
| Hdac9 |
T |
A |
12: 34,481,990 (GRCm39) |
|
probably null |
Het |
| Hsfy2 |
T |
A |
1: 56,676,150 (GRCm39) |
D129V |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,982,239 (GRCm39) |
V941A |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,351,171 (GRCm39) |
V1279A |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,170,624 (GRCm39) |
M1683L |
probably benign |
Het |
| Nudt21 |
C |
T |
8: 94,746,282 (GRCm39) |
V139I |
probably benign |
Het |
| Or5e1 |
T |
C |
7: 108,354,236 (GRCm39) |
Y58H |
probably damaging |
Het |
| Pex2 |
A |
G |
3: 5,626,191 (GRCm39) |
F206S |
probably damaging |
Het |
| Plek2 |
C |
A |
12: 78,943,065 (GRCm39) |
R77L |
probably benign |
Het |
| Ppfia1 |
A |
T |
7: 144,059,942 (GRCm39) |
D623E |
possibly damaging |
Het |
| Ppm1l |
T |
A |
3: 69,460,374 (GRCm39) |
I317N |
probably damaging |
Het |
| Prkacb |
T |
A |
3: 146,461,479 (GRCm39) |
T36S |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,256,544 (GRCm39) |
I115F |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcap |
C |
A |
11: 98,275,003 (GRCm39) |
Q46K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,751,339 (GRCm39) |
I546V |
possibly damaging |
Het |
| Tubal3 |
T |
A |
13: 3,983,107 (GRCm39) |
S296T |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,936,772 (GRCm39) |
N683D |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,214,871 (GRCm39) |
L285V |
possibly damaging |
Het |
| Zfp871 |
T |
C |
17: 32,994,647 (GRCm39) |
D157G |
possibly damaging |
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 |
|
IGL03234:Sprtn
|
APN |
8 |
125,629,888 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTAGGGATTTGCTGCCCAC -3'
(R):5'- CCTAAGGAACAGAGACTCTTGTC -3'
Sequencing Primer
(F):5'- ACATACTCTGTAGACCAGGCTGG -3'
(R):5'- CCAGTCTACAGAGTGAGTTCCAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation