Incidental Mutation 'R1580:Spg7'
| ID |
171360 |
| 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) |
| MMRRC Submission |
039617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R1580 (G1)
|
| Quality Score |
140 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123792247-123824499 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 123816977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125975]
[ENSMUST00000127664]
[ENSMUST00000135991]
[ENSMUST00000149248]
[ENSMUST00000153285]
|
| AlphaFold |
Q3ULF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125975
|
| SMART Domains |
Protein: ENSMUSP00000120361
Gene: ENSMUSG00000000738
| 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 |
probably benign
Transcript: ENSMUST00000128234
|
| SMART Domains |
Protein: ENSMUSP00000120793
Gene: ENSMUSG00000000738
| 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 |
noncoding transcript
Transcript: ENSMUST00000142150
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149248
|
| SMART Domains |
Protein: ENSMUSP00000119552
Gene: ENSMUSG00000000738
| 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 |
noncoding transcript
Transcript: ENSMUST00000152972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212364
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153285
|
| SMART Domains |
Protein: ENSMUSP00000115039
Gene: ENSMUSG00000000738
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.8%
|
| Validation Efficiency |
96% (43/45) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,305,124 (GRCm39) |
V2044I |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,614,279 (GRCm39) |
|
probably null |
Het |
| Arhgef38 |
T |
C |
3: 132,839,465 (GRCm39) |
Q526R |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,479,726 (GRCm39) |
N752D |
probably benign |
Het |
| Atp6v0a1 |
T |
C |
11: 100,920,030 (GRCm39) |
I221T |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,355,673 (GRCm39) |
V551A |
possibly damaging |
Het |
| B3galnt1 |
A |
G |
3: 69,483,040 (GRCm39) |
S74P |
possibly damaging |
Het |
| Bcl2l13 |
A |
G |
6: 120,842,675 (GRCm39) |
I123V |
probably benign |
Het |
| Brms1l |
A |
T |
12: 55,915,007 (GRCm39) |
K305N |
probably damaging |
Het |
| Ccdc82 |
C |
T |
9: 13,252,385 (GRCm39) |
R226C |
probably damaging |
Het |
| Chst9 |
T |
G |
18: 15,586,122 (GRCm39) |
K147T |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,413,762 (GRCm39) |
R390G |
probably damaging |
Het |
| Clec5a |
G |
T |
6: 40,562,153 (GRCm39) |
H4N |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,975,299 (GRCm39) |
Q2970L |
probably damaging |
Het |
| Cyp2a4 |
T |
C |
7: 26,007,076 (GRCm39) |
I61T |
possibly damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,378,884 (GRCm39) |
K379I |
possibly damaging |
Het |
| Cyp3a16 |
T |
C |
5: 145,378,885 (GRCm39) |
K379E |
probably damaging |
Het |
| Dok2 |
A |
G |
14: 71,014,397 (GRCm39) |
D195G |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,764 (GRCm39) |
E335G |
probably damaging |
Het |
| Gm7361 |
G |
T |
5: 26,462,768 (GRCm39) |
L3F |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,854,620 (GRCm39) |
D50G |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,857,617 (GRCm39) |
V1099A |
probably benign |
Het |
| Kif15 |
T |
C |
9: 122,789,021 (GRCm39) |
V71A |
probably benign |
Het |
| Klk10 |
C |
T |
7: 43,432,286 (GRCm39) |
A73V |
probably damaging |
Het |
| Lins1 |
C |
A |
7: 66,364,239 (GRCm39) |
D711E |
probably benign |
Het |
| Mbtps1 |
C |
T |
8: 120,265,639 (GRCm39) |
V303I |
possibly damaging |
Het |
| Mest |
G |
A |
6: 30,745,822 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Or14c43 |
A |
G |
7: 86,114,658 (GRCm39) |
E13G |
probably benign |
Het |
| Or6c210 |
G |
T |
10: 129,496,184 (GRCm39) |
V170F |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rtf2 |
A |
G |
2: 172,287,285 (GRCm39) |
D68G |
probably damaging |
Het |
| Sbspon |
C |
A |
1: 15,962,692 (GRCm39) |
C62F |
probably damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,874,020 (GRCm39) |
|
probably null |
Het |
| Trabd2b |
T |
C |
4: 114,437,531 (GRCm39) |
V236A |
possibly damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,154,117 (GRCm39) |
N62K |
possibly damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,474,746 (GRCm39) |
S761R |
possibly damaging |
Het |
| Zfp580 |
C |
T |
7: 5,056,284 (GRCm39) |
R215C |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,605 (GRCm39) |
D898G |
possibly 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 |
|
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 |
|
R3753: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'- TCAGGTGATGCAGGCAGGTGAT -3'
(R):5'- GGAAGGTAACAATTCCCTCGCTACG -3'
Sequencing Primer
(F):5'- ctccctcctttctcctttcc -3'
(R):5'- CGCTACGTACCTCATTAGAATATTTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation