Incidental Mutation 'R3753:Spg7'
| ID |
271318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spg7
|
| Ensembl Gene |
ENSMUSG00000000738 |
| Gene Name |
SPG7, paraplegin matrix AAA peptidase subunit |
| Synonyms |
Cmar, paraplegin, spastic paraplegia 7 homolog (human) |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R3753 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123792247-123824499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 123814112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Proline
at position 457
(R457P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108868]
[ENSMUST00000125975]
[ENSMUST00000127664]
[ENSMUST00000135991]
[ENSMUST00000149248]
[ENSMUST00000153285]
|
| AlphaFold |
Q3ULF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108868
AA Change: R457P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104496
Gene: ENSMUSG00000000738
AA Change: R457P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
135 |
N/A |
INTRINSIC |
|
Pfam:FtsH_ext
|
142 |
242 |
5.2e-12 |
PFAM |
|
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
|
AAA
|
341 |
481 |
1.96e-19 |
SMART |
|
Pfam:Peptidase_M41
|
541 |
746 |
1.8e-74 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125975
AA Change: R352P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120361
Gene: ENSMUSG00000000738
AA Change: R352P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
Pfam:FtsH_ext
|
37 |
137 |
8.5e-12 |
PFAM |
|
transmembrane domain
|
145 |
167 |
N/A |
INTRINSIC |
|
AAA
|
236 |
376 |
1.96e-19 |
SMART |
|
Pfam:Peptidase_M41
|
436 |
641 |
9.8e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128234
AA Change: R25P
|
| SMART Domains |
Protein: ENSMUSP00000120793
Gene: ENSMUSG00000000738
AA Change: R25P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA
|
1 |
48 |
5.8e-10 |
PFAM |
|
Pfam:Peptidase_M41
|
110 |
222 |
9.7e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130787
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135991
|
| SMART Domains |
Protein: ENSMUSP00000118066
Gene: ENSMUSG00000000738
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M41
|
1 |
81 |
2.5e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149248
AA Change: R457P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119552
Gene: ENSMUSG00000000738
AA Change: R457P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
135 |
N/A |
INTRINSIC |
|
Pfam:FtsH_ext
|
142 |
242 |
3.9e-11 |
PFAM |
|
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
|
AAA
|
341 |
481 |
1.96e-19 |
SMART |
|
Pfam:Peptidase_M41
|
541 |
746 |
7e-75 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153285
AA Change: R457P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115039
Gene: ENSMUSG00000000738
AA Change: R457P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
135 |
N/A |
INTRINSIC |
|
Pfam:FtsH_ext
|
142 |
242 |
3.8e-11 |
PFAM |
|
transmembrane domain
|
250 |
272 |
N/A |
INTRINSIC |
|
AAA
|
341 |
481 |
1.96e-19 |
SMART |
|
Pfam:Peptidase_M41
|
515 |
709 |
2.5e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142150
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153492
|
| SMART Domains |
Protein: ENSMUSP00000133602
Gene: ENSMUSG00000000738
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FtsH_ext
|
1 |
102 |
1.3e-12 |
PFAM |
|
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
|
PDB:2QZ4|A
|
165 |
192 |
1e-8 |
PDB |
|
| Meta Mutation Damage Score |
0.9204 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (49/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous null mice exhibit impaired motor skills, putativley associated with axonal degeneration in the central and peripheral nervous systems. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,121,677 (GRCm39) |
I74N |
probably damaging |
Het |
| Acp7 |
T |
A |
7: 28,316,085 (GRCm39) |
Y167F |
probably damaging |
Het |
| Acsl1 |
A |
T |
8: 46,966,602 (GRCm39) |
|
probably benign |
Het |
| Bcr |
T |
C |
10: 74,971,772 (GRCm39) |
V599A |
probably benign |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Cep152 |
A |
G |
2: 125,466,972 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
T |
G |
19: 31,060,695 (GRCm39) |
L77R |
probably damaging |
Het |
| Drd3 |
C |
T |
16: 43,637,466 (GRCm39) |
R254W |
probably damaging |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Fam187a |
C |
T |
11: 102,776,675 (GRCm39) |
P160S |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,478,516 (GRCm39) |
E2521K |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Flii |
T |
C |
11: 60,606,306 (GRCm39) |
D1128G |
probably benign |
Het |
| Gask1a |
A |
T |
9: 121,794,899 (GRCm39) |
D351V |
probably damaging |
Het |
| Gata3 |
T |
A |
2: 9,873,651 (GRCm39) |
H281L |
probably benign |
Het |
| Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Nbn |
G |
A |
4: 15,964,269 (GRCm39) |
V115I |
probably damaging |
Het |
| Nfyc |
G |
T |
4: 120,622,527 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
A |
T |
6: 90,998,377 (GRCm39) |
|
probably null |
Het |
| Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
| Or2t48 |
C |
T |
11: 58,420,516 (GRCm39) |
A99T |
probably benign |
Het |
| Or8j3b |
C |
T |
2: 86,205,259 (GRCm39) |
V166I |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,640,278 (GRCm39) |
V508A |
probably benign |
Het |
| Prmt2 |
G |
T |
10: 76,061,137 (GRCm39) |
D116E |
probably benign |
Het |
| Prss51 |
T |
A |
14: 64,333,624 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,102,818 (GRCm39) |
V2659D |
probably benign |
Het |
| Ptpn3 |
C |
T |
4: 57,270,144 (GRCm39) |
R6H |
probably damaging |
Het |
| Ramac |
C |
T |
7: 81,417,395 (GRCm39) |
R32C |
probably damaging |
Het |
| Rdh12 |
C |
T |
12: 79,260,446 (GRCm39) |
R181* |
probably null |
Het |
| Rsf1 |
T |
A |
7: 97,311,359 (GRCm39) |
D696E |
probably benign |
Het |
| Sh3rf2 |
C |
T |
18: 42,244,373 (GRCm39) |
R280C |
probably damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,427,502 (GRCm39) |
I611K |
probably damaging |
Het |
| Snph |
G |
A |
2: 151,435,374 (GRCm39) |
P449L |
probably benign |
Het |
| Swap70 |
T |
A |
7: 109,867,088 (GRCm39) |
W297R |
probably damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,566,738 (GRCm39) |
I784F |
probably damaging |
Het |
| Tcstv2c |
A |
T |
13: 120,616,167 (GRCm39) |
D2V |
possibly damaging |
Het |
| Tox2 |
T |
A |
2: 163,156,243 (GRCm39) |
I138N |
probably damaging |
Het |
| Trim54 |
A |
C |
5: 31,291,488 (GRCm39) |
E203A |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,292,548 (GRCm39) |
T197S |
possibly damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,026 (GRCm39) |
H407L |
probably damaging |
Het |
| Wdr19 |
G |
A |
5: 65,382,069 (GRCm39) |
V430M |
probably damaging |
Het |
|
| Other mutations in Spg7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01862:Spg7
|
APN |
8 |
123,803,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01868:Spg7
|
APN |
8 |
123,816,975 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02551:Spg7
|
APN |
8 |
123,803,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02744:Spg7
|
APN |
8 |
123,820,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03161:Spg7
|
APN |
8 |
123,814,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03165:Spg7
|
APN |
8 |
123,807,551 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0729:Spg7
|
UTSW |
8 |
123,797,156 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1580:Spg7
|
UTSW |
8 |
123,816,977 (GRCm39) |
unclassified |
probably benign |
|
|
R1696:Spg7
|
UTSW |
8 |
123,816,964 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1909:Spg7
|
UTSW |
8 |
123,807,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3751:Spg7
|
UTSW |
8 |
123,814,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3921:Spg7
|
UTSW |
8 |
123,814,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3976:Spg7
|
UTSW |
8 |
123,806,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Spg7
|
UTSW |
8 |
123,807,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4952:Spg7
|
UTSW |
8 |
123,816,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5392:Spg7
|
UTSW |
8 |
123,814,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5637:Spg7
|
UTSW |
8 |
123,821,314 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5684:Spg7
|
UTSW |
8 |
123,800,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5810:Spg7
|
UTSW |
8 |
123,821,308 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6452:Spg7
|
UTSW |
8 |
123,806,162 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6453:Spg7
|
UTSW |
8 |
123,806,162 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6454:Spg7
|
UTSW |
8 |
123,806,162 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6750:Spg7
|
UTSW |
8 |
123,800,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7090:Spg7
|
UTSW |
8 |
123,818,491 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7213:Spg7
|
UTSW |
8 |
123,816,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7705:Spg7
|
UTSW |
8 |
123,800,617 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7811:Spg7
|
UTSW |
8 |
123,824,164 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7863:Spg7
|
UTSW |
8 |
123,815,788 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8375:Spg7
|
UTSW |
8 |
123,800,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9228:Spg7
|
UTSW |
8 |
123,807,408 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9321:Spg7
|
UTSW |
8 |
123,803,688 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9508:Spg7
|
UTSW |
8 |
123,800,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Spg7
|
UTSW |
8 |
123,816,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTGGAAGCCGTTGTGAAGG -3'
(R):5'- AACAGCAGAGCTTCCTGTC -3'
Sequencing Primer
(F):5'- CTCATCGGTCTGTCCAGATGGAG -3'
(R):5'- AGCAGAGCTTCCTGTCCCAAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation