Incidental Mutation 'R6454:Spg7'
| ID |
519486 |
| 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 |
044590-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R6454 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123792247-123824499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123806162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 291
(K291E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125975]
[ENSMUST00000127664]
[ENSMUST00000142541]
[ENSMUST00000149248]
[ENSMUST00000153285]
|
| AlphaFold |
Q3ULF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125975
AA Change: K186E
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000120361
Gene: ENSMUSG00000000738
AA Change: K186E
| 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: ENSMUST00000142150
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142541
AA Change: K186E
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000119017
Gene: ENSMUSG00000000738
AA Change: K186E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
Pfam:FtsH_ext
|
37 |
137 |
1.2e-12 |
PFAM |
|
transmembrane domain
|
145 |
167 |
N/A |
INTRINSIC |
|
PDB:2QZ4|A
|
200 |
230 |
2e-12 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149248
AA Change: K291E
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119552
Gene: ENSMUSG00000000738
AA Change: K291E
| 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 |
possibly damaging
Transcript: ENSMUST00000153285
AA Change: K291E
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115039
Gene: ENSMUSG00000000738
AA Change: K291E
| 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 |
unknown
Transcript: ENSMUST00000153492
AA Change: K150E
|
| SMART Domains |
Protein: ENSMUSP00000133602
Gene: ENSMUSG00000000738
AA Change: K150E
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
G |
T |
8: 44,079,845 (GRCm39) |
N126K |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,270,294 (GRCm39) |
T1469I |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,608,290 (GRCm39) |
T93A |
probably benign |
Het |
| Atp8a2 |
A |
T |
14: 60,245,948 (GRCm39) |
|
probably null |
Het |
| Casz1 |
A |
T |
4: 149,035,952 (GRCm39) |
I1405F |
probably damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,883,403 (GRCm39) |
S100P |
probably damaging |
Het |
| Creld2 |
T |
A |
15: 88,707,274 (GRCm39) |
C197* |
probably null |
Het |
| Csmd1 |
A |
T |
8: 15,971,150 (GRCm39) |
F3055Y |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,880,590 (GRCm39) |
E3843D |
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,611,270 (GRCm39) |
S3799P |
probably damaging |
Het |
| Dpp9 |
A |
T |
17: 56,513,808 (GRCm39) |
L102Q |
probably damaging |
Het |
| Eipr1 |
T |
G |
12: 28,914,761 (GRCm39) |
I305S |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Faf1 |
G |
T |
4: 109,699,531 (GRCm39) |
A359S |
probably benign |
Het |
| Fam13b |
A |
G |
18: 34,590,715 (GRCm39) |
|
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,638,015 (GRCm39) |
N363I |
probably damaging |
Het |
| Grm8 |
T |
G |
6: 27,363,775 (GRCm39) |
H580P |
possibly damaging |
Het |
| Itih5 |
T |
C |
2: 10,245,479 (GRCm39) |
F523L |
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,517,527 (GRCm39) |
M383K |
possibly damaging |
Het |
| Lgi4 |
A |
T |
7: 30,759,557 (GRCm39) |
T38S |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,241,191 (GRCm39) |
M856K |
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Nlrp9c |
G |
A |
7: 26,085,199 (GRCm39) |
R127C |
possibly damaging |
Het |
| Notch2 |
T |
C |
3: 98,044,722 (GRCm39) |
I1548T |
possibly damaging |
Het |
| Nphs2 |
T |
A |
1: 156,146,337 (GRCm39) |
H179Q |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,863,136 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
G |
6: 96,142,609 (GRCm39) |
H145P |
possibly damaging |
Het |
| Odf2l |
C |
A |
3: 144,859,181 (GRCm39) |
Q517K |
possibly damaging |
Het |
| Omd |
A |
T |
13: 49,743,345 (GRCm39) |
I132F |
probably damaging |
Het |
| Or10d1b |
A |
G |
9: 39,613,130 (GRCm39) |
*312Q |
probably null |
Het |
| Or4a81 |
T |
C |
2: 89,619,522 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,395 (GRCm39) |
N93Y |
probably benign |
Het |
| Or9g19 |
A |
G |
2: 85,600,717 (GRCm39) |
K191E |
probably benign |
Het |
| Otog |
A |
G |
7: 45,955,241 (GRCm39) |
N544D |
probably damaging |
Het |
| Ovol3 |
A |
G |
7: 29,934,800 (GRCm39) |
Y29H |
probably damaging |
Het |
| Papolb |
T |
C |
5: 142,515,353 (GRCm39) |
K97E |
possibly damaging |
Het |
| Pcdhb19 |
G |
T |
18: 37,632,322 (GRCm39) |
V706L |
probably benign |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Plekhm1 |
G |
A |
11: 103,268,208 (GRCm39) |
R588C |
probably damaging |
Het |
| Pnpla6 |
G |
T |
8: 3,587,986 (GRCm39) |
V1062L |
probably damaging |
Het |
| Ppp1r9a |
T |
A |
6: 4,905,827 (GRCm39) |
F127L |
probably damaging |
Het |
| Rigi |
T |
A |
4: 40,220,456 (GRCm39) |
I476F |
probably damaging |
Het |
| Rnf5 |
A |
C |
17: 34,821,283 (GRCm39) |
C47W |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,538,910 (GRCm39) |
M517K |
probably damaging |
Het |
| Slc44a5 |
C |
T |
3: 153,948,796 (GRCm39) |
T188M |
probably benign |
Het |
| Smco1 |
A |
G |
16: 32,092,041 (GRCm39) |
T40A |
possibly damaging |
Het |
| Speer4f2 |
A |
T |
5: 17,579,431 (GRCm39) |
I77F |
probably damaging |
Het |
| Spem2 |
A |
G |
11: 69,708,254 (GRCm39) |
L237P |
probably damaging |
Het |
| Tent5b |
A |
G |
4: 133,207,720 (GRCm39) |
D37G |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,488,938 (GRCm39) |
T749S |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,533,866 (GRCm39) |
K2291E |
probably damaging |
Het |
| Tm6sf1 |
A |
G |
7: 81,525,801 (GRCm39) |
M294V |
probably damaging |
Het |
| Tmem35b |
T |
C |
4: 127,022,811 (GRCm39) |
*138R |
probably null |
Het |
| Tpst1 |
A |
G |
5: 130,130,892 (GRCm39) |
K121E |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,323,261 (GRCm39) |
V51D |
possibly damaging |
Het |
| Tshr |
C |
A |
12: 91,505,323 (GRCm39) |
Q754K |
probably benign |
Het |
| Ttc38 |
T |
A |
15: 85,723,023 (GRCm39) |
M157K |
probably damaging |
Het |
| Ube2g2 |
T |
G |
10: 77,470,580 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
T |
G |
5: 87,388,836 (GRCm39) |
D459A |
probably damaging |
Het |
| Usp35 |
A |
T |
7: 96,960,851 (GRCm39) |
Y858* |
probably null |
Het |
| Usp35 |
A |
T |
7: 96,960,767 (GRCm39) |
N886K |
probably damaging |
Het |
| Wdr33 |
T |
C |
18: 31,963,028 (GRCm39) |
V125A |
possibly damaging |
Het |
| Xpnpep1 |
G |
A |
19: 52,986,310 (GRCm39) |
T506I |
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 |
|
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 |
|
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 |
|
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'- AGCGGTCTGTGATCTGCATC -3'
(R):5'- CAAGTGTCTGCTCACCACAG -3'
Sequencing Primer
(F):5'- CTGTGATCTGCATCATAACTGAGG -3'
(R):5'- TCCTCCTTGGAGAGAAGACAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation