Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03165:Spg7'

411615

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spg7

Ensembl Gene

ENSMUSG00000000738

Gene Name

SPG7, paraplegin matrix AAA peptidase subunit

Synonyms

Cmar, paraplegin

Accession Numbers

Is this an essential gene?

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

Stock #

IGL03165

Quality Score

Status

Chromosome

Chromosomal Location

123062942-123097760 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 123080812 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115039 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000125975] [ENSMUST00000127664] [ENSMUST00000142541] [ENSMUST00000149248] [ENSMUST00000153285]

AlphaFold

Q3ULF4

Predicted Effect

probably null
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 null
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

SMART Domains

Protein: ENSMUSP00000119017
Gene: ENSMUSG00000000738

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

probably null
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

probably null
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

Coding Region Coverage

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,094,394	I334V	probably benign	Het
Axdnd1	T	A	1: 156,378,389	Y519F	probably benign	Het
C4b	A	G	17: 34,739,955	F500S	probably benign	Het
Cacng2	A	T	15: 77,995,663	I153N	possibly damaging	Het
Ces1d	T	A	8: 93,189,519	H160L	probably benign	Het
Cnnm3	T	G	1: 36,525,232		probably benign	Het
Ctnna3	A	G	10: 64,945,941	T728A	probably damaging	Het
Cyp2g1	G	A	7: 26,809,776	V92M	possibly damaging	Het
Dock2	C	A	11: 34,687,533	V35F	probably damaging	Het
Eif2a	C	A	3: 58,548,628	Y349*	probably null	Het
Erp44	C	T	4: 48,236,872		probably null	Het
Flg2	C	T	3: 93,214,611	H1363Y	unknown	Het
Flnc	G	T	6: 29,449,378	G1425W	probably damaging	Het
Frem3	A	G	8: 80,612,529	N484D	probably benign	Het
Fstl3	A	G	10: 79,779,965	D95G	probably benign	Het
Gldc	A	G	19: 30,098,993	S1018P	possibly damaging	Het
Gstk1	T	G	6: 42,249,434	I159S	probably benign	Het
Herc2	A	G	7: 56,191,912	E3513G	probably damaging	Het
Hpca	A	T	4: 129,118,590	I51N	probably damaging	Het
Hsd17b7	C	T	1: 169,953,080	E320K	probably damaging	Het
Igkv4-74	T	C	6: 69,185,305		probably benign	Het
Kdm7a	C	A	6: 39,170,914		probably benign	Het
Olfr1040	A	C	2: 86,146,068	L222R	possibly damaging	Het
Olfr382	A	T	11: 73,516,884	L105*	probably null	Het
Olfr619	T	C	7: 103,604,011	I119T	probably damaging	Het
Pa2g4	A	T	10: 128,559,060		probably null	Het
Pdlim3	T	A	8: 45,918,998	L360Q	possibly damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Polk	T	A	13: 96,516,688	Q68L	probably benign	Het
Ppfia2	T	G	10: 106,767,487	L195R	probably damaging	Het
Ranbp1	A	T	16: 18,247,281		probably benign	Het
Rbm12b1	A	G	4: 12,145,845	R606G	possibly damaging	Het
Ryr1	A	G	7: 29,105,040	V488A	probably benign	Het
Sall2	A	T	14: 52,314,168	D521E	probably damaging	Het
Sntg1	A	T	1: 8,445,104	C402S	probably damaging	Het
Stk31	G	A	6: 49,445,264	E750K	probably damaging	Het
Tlr2	A	G	3: 83,837,948	I276T	probably benign	Het
Trav12-2	A	T	14: 53,616,749	H60L	probably benign	Het
Urb1	A	G	16: 90,780,304	L775S	probably damaging	Het
Utp14b	A	G	1: 78,664,520	D45G	probably damaging	Het

Other mutations in Spg7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01862:Spg7	APN	8	123076930	missense	probably damaging	1.00
IGL01868:Spg7	APN	8	123090236	critical splice donor site	probably null
IGL02551:Spg7	APN	8	123076978	missense	probably damaging	1.00
IGL02744:Spg7	APN	8	123093661	missense	probably damaging	1.00
IGL03161:Spg7	APN	8	123087331	missense	probably damaging	1.00
R0729:Spg7	UTSW	8	123070417	missense	probably damaging	0.96
R1580:Spg7	UTSW	8	123090238	unclassified	probably benign
R1696:Spg7	UTSW	8	123090225	missense	probably benign	0.05
R1909:Spg7	UTSW	8	123080741	missense	probably benign	0.01
R3751:Spg7	UTSW	8	123087373	missense	probably damaging	1.00
R3753:Spg7	UTSW	8	123087373	missense	probably damaging	1.00
R3921:Spg7	UTSW	8	123087373	missense	probably damaging	1.00
R3976:Spg7	UTSW	8	123079448	missense	probably damaging	1.00
R4908:Spg7	UTSW	8	123080655	missense	probably damaging	1.00
R4952:Spg7	UTSW	8	123090171	missense	probably damaging	1.00
R5392:Spg7	UTSW	8	123087363	missense	probably damaging	1.00
R5637:Spg7	UTSW	8	123094575	missense	possibly damaging	0.82
R5684:Spg7	UTSW	8	123073884	missense	probably damaging	1.00
R5810:Spg7	UTSW	8	123094569	missense	possibly damaging	0.94
R6452:Spg7	UTSW	8	123079423	missense	possibly damaging	0.54
R6453:Spg7	UTSW	8	123079423	missense	possibly damaging	0.54
R6454:Spg7	UTSW	8	123079423	missense	possibly damaging	0.54
R6750:Spg7	UTSW	8	123073911	missense	probably damaging	1.00
R7090:Spg7	UTSW	8	123091752	critical splice donor site	probably null
R7213:Spg7	UTSW	8	123090232	missense	probably damaging	1.00
R7705:Spg7	UTSW	8	123073878	missense	possibly damaging	0.63
R7811:Spg7	UTSW	8	123097425	missense	possibly damaging	0.89
R7863:Spg7	UTSW	8	123089049	critical splice donor site	probably null
R8375:Spg7	UTSW	8	123073829	missense	probably damaging	0.99
R9228:Spg7	UTSW	8	123080669	missense	possibly damaging	0.94
R9321:Spg7	UTSW	8	123076949	missense	probably benign	0.22
Z1177:Spg7	UTSW	8	123090223	missense	probably damaging	1.00

Posted On

2016-08-02