Mutagenetix > Incidental Mutation

Incidental Mutation 'R7213:Spg7'

561217

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

045341-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R7213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123792247-123824499 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123816971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 554 (A554V)

Ref Sequence

ENSEMBL: ENSMUSP00000119552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000125975] [ENSMUST00000127664] [ENSMUST00000135991] [ENSMUST00000149248] [ENSMUST00000153285]

AlphaFold

Q3ULF4

Predicted Effect

probably damaging
Transcript: ENSMUST00000125975
AA Change: A449V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120361
Gene: ENSMUSG00000000738
AA Change: A449V

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

SMART Domains

Protein: ENSMUSP00000120793
Gene: ENSMUSG00000000738
AA Change: A122V

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

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: A554V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119552
Gene: ENSMUSG00000000738
AA Change: A554V

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 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

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

0.2401

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	G	T	9: 124,056,530 (GRCm39)	Y131*	probably null	Het
2310009B15Rik	A	T	1: 138,781,367 (GRCm39)	V94D	probably damaging	Het
Actr1b	T	A	1: 36,741,221 (GRCm39)	N120I	probably damaging	Het
Adam17	A	T	12: 21,386,679 (GRCm39)	Y452*	probably null	Het
Adam19	A	T	11: 46,012,298 (GRCm39)	T265S	probably benign	Het
Adgrb1	A	G	15: 74,441,733 (GRCm39)	T945A	probably benign	Het
Bpifa5	G	A	2: 154,007,903 (GRCm39)	V182M	possibly damaging	Het
Celsr3	C	T	9: 108,726,239 (GRCm39)	T3156I	probably damaging	Het
Cntrl	A	G	2: 35,025,692 (GRCm39)	M674V	possibly damaging	Het
Cry2	C	T	2: 92,244,004 (GRCm39)	V390I	probably benign	Het
Cspg4b	T	A	13: 113,454,475 (GRCm39)	F174I		Het
Cwc25	G	T	11: 97,644,855 (GRCm39)	Q168K	probably benign	Het
Dcbld2	C	T	16: 58,271,126 (GRCm39)	A301V	probably benign	Het
Dclre1a	T	C	19: 56,518,067 (GRCm39)	Y1004C	probably damaging	Het
Ddhd1	A	C	14: 45,895,210 (GRCm39)	S87A	probably benign	Het
Ear1	A	G	14: 44,056,611 (GRCm39)	C86R	probably damaging	Het
Epha5	T	C	5: 84,381,782 (GRCm39)		probably null	Het
Fat2	A	T	11: 55,171,871 (GRCm39)	Y2947*	probably null	Het
Fat4	G	A	3: 39,053,236 (GRCm39)	V4077M	possibly damaging	Het
Fbxl12	A	T	9: 20,550,304 (GRCm39)	V140E	probably damaging	Het
Fbxo16	A	G	14: 65,536,868 (GRCm39)		probably null	Het
Fto	A	T	8: 92,118,135 (GRCm39)	Q29L	probably benign	Het
Gk5	C	T	9: 96,027,765 (GRCm39)	T200M	probably damaging	Het
Gm5916	C	T	9: 36,039,946 (GRCm39)	G14E	possibly damaging	Het
Gm9972	A	T	11: 42,927,235 (GRCm39)		probably benign	Het
Gpr139	T	A	7: 118,744,322 (GRCm39)	M88L	probably benign	Het
Gpr26	T	C	7: 131,569,219 (GRCm39)	L188P	probably damaging	Het
H2ac4	G	T	13: 23,935,146 (GRCm39)	A11S	unknown	Het
Hbp1	A	T	12: 31,987,196 (GRCm39)	S219T	probably benign	Het
Hr	A	T	14: 70,795,790 (GRCm39)	E445V	probably damaging	Het
Il12rb1	A	G	8: 71,269,097 (GRCm39)	K426E	probably benign	Het
Itgbl1	G	A	14: 124,210,709 (GRCm39)	C469Y	probably damaging	Het
Kdm2b	A	T	5: 123,059,532 (GRCm39)	N523K	probably damaging	Het
Kptn	A	G	7: 15,854,704 (GRCm39)	N125S	possibly damaging	Het
Krt17	T	C	11: 100,149,356 (GRCm39)	N238S	probably benign	Het
Lemd3	G	A	10: 120,814,145 (GRCm39)	R363*	probably null	Het
Mmrn1	G	A	6: 60,921,527 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,537,524 (GRCm39)	D64G	probably damaging	Het
Muc16	A	G	9: 18,552,712 (GRCm39)	V4527A	probably benign	Het
Naip2	T	A	13: 100,323,991 (GRCm39)	D193V	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nf1	A	G	11: 79,360,645 (GRCm39)	H1462R	probably benign	Het
Or2n1b	T	C	17: 38,459,965 (GRCm39)	V162A	probably benign	Het
Or5ak20	A	T	2: 85,183,900 (GRCm39)	Y123*	probably null	Het
Pappa2	T	A	1: 158,764,456 (GRCm39)	T352S	possibly damaging	Het
Pcnt	A	G	10: 76,244,738 (GRCm39)	L1114P	probably damaging	Het
Pde6b	T	C	5: 108,551,956 (GRCm39)	Y212H	probably damaging	Het
Pik3c2g	A	T	6: 139,805,990 (GRCm39)	I604F		Het
Pld2	A	G	11: 70,444,198 (GRCm39)	D498G	probably benign	Het
Prag1	A	T	8: 36,613,769 (GRCm39)	Q1107L	probably damaging	Het
Pwp1	A	T	10: 85,712,173 (GRCm39)	I110F	probably benign	Het
Rims4	C	T	2: 163,705,981 (GRCm39)	V218I	probably benign	Het
Rnf10	C	T	5: 115,380,532 (GRCm39)	S754N	probably damaging	Het
Rnf10	T	C	5: 115,380,533 (GRCm39)	S754G	probably damaging	Het
Sel1l2	A	T	2: 140,086,055 (GRCm39)	V512E	probably damaging	Het
Shank2	T	A	7: 143,585,146 (GRCm39)	M49K	probably benign	Het
Sipa1	T	C	19: 5,710,551 (GRCm39)	D153G	probably damaging	Het
Slc46a2	C	T	4: 59,914,279 (GRCm39)	V215I	possibly damaging	Het
Slco6c1	G	A	1: 97,055,671 (GRCm39)	L77F	probably benign	Het
Smarca2	T	C	19: 26,624,531 (GRCm39)	L397P	possibly damaging	Het
Stab1	T	A	14: 30,865,630 (GRCm39)	M1753L	probably benign	Het
Stk11	A	G	10: 79,952,452 (GRCm39)	M1V	probably null	Het
Supt6	C	A	11: 78,122,976 (GRCm39)	G136C	probably damaging	Het
Svil	G	T	18: 5,094,574 (GRCm39)	R1418L	probably damaging	Het
Tfg	A	G	16: 56,521,516 (GRCm39)	S167P	probably benign	Het
Timeless	T	C	10: 128,079,158 (GRCm39)	V335A	probably benign	Het
Tll2	C	A	19: 41,108,666 (GRCm39)	R328L	probably damaging	Het
Tomm7	T	C	5: 24,049,059 (GRCm39)	S5G	possibly damaging	Het
Ttc39c	G	A	18: 12,820,138 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,556,105 (GRCm39)	E30300G	probably benign	Het
Tuba4a	A	T	1: 75,192,341 (GRCm39)	D452E	possibly damaging	Het
Tubgcp2	T	C	7: 139,587,927 (GRCm39)	I233V	probably benign	Het
Tubgcp5	T	A	7: 55,455,860 (GRCm39)	V296E	probably damaging	Het
Vmn2r53	T	C	7: 12,334,983 (GRCm39)	S226G	probably benign	Het
Xrcc6	T	C	15: 81,901,027 (GRCm39)		probably benign	Het
Zfhx4	C	A	3: 5,461,704 (GRCm39)	D1192E	probably benign	Het
Zfp180	G	T	7: 23,803,938 (GRCm39)	W119L	possibly damaging	Het
Zfp3	A	G	11: 70,663,351 (GRCm39)	I437V	probably benign	Het
Zfp616	A	T	11: 73,976,689 (GRCm39)	Q986L	probably benign	Het
Zfp937	T	A	2: 150,081,385 (GRCm39)	C472S	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
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
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'- TAAAAGCTGAGTCTCCCTCCTC -3'
(R):5'- GGTATGTTCTTAGGTAAGTTTCCAC -3'

Sequencing Primer
(F):5'- CTCTCCTTTTCCTAATGCTGACAGG -3'
(R):5'- TTCCACTATCTCAAATAGAGGGAAGG -3'

Posted On

2019-06-26