Mutagenetix > Incidental Mutations

Incidental Mutation 'R7090:Spg7'

550158

Institutional Source

Beutler Lab

Gene Symbol

Spg7

Ensembl Gene

ENSMUSG00000000738

Gene Name

SPG7, paraplegin matrix AAA peptidase subunit

Synonyms

Cmar, paraplegin

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R7090 (G1)

Quality Score

225.009

Status

Validated

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 123091752 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119552 (fasta)

Gene Model

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

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

probably null
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 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

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

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Calm3	A	T	7: 16,917,079	Y139*	probably null	Het
Ccdc27	T	C	4: 154,028,066	N584S	probably benign	Het
Cdh24	C	G	14: 54,639,507	G13A	probably damaging	Het
Chd8	T	C	14: 52,215,220	K1281E	probably damaging	Het
Clasp1	G	T	1: 118,482,086	G4C	probably benign	Het
Cul9	G	T	17: 46,500,839	P2488T	probably damaging	Het
Daam2	A	G	17: 49,482,945	V428A	probably damaging	Het
Dcaf8	A	G	1: 172,188,968	S441G	probably damaging	Het
Dchs2	A	G	3: 83,348,274	T2426A	probably benign	Het
Dpys	A	G	15: 39,826,883	V358A	probably damaging	Het
Efhd1	A	G	1: 87,289,497	D112G	probably damaging	Het
Exoc1	T	C	5: 76,566,953	S120P	unknown	Het
Fyco1	A	G	9: 123,797,719	L1309S	probably damaging	Het
Gm14403	A	G	2: 177,509,321	N111S	possibly damaging	Het
Gm5901	A	G	7: 105,377,348	T108A	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Itgb5	T	G	16: 33,885,094	D251E	probably damaging	Het
Kcnk15	T	C	2: 163,858,717	V292A	probably benign	Het
Kdm2a	A	T	19: 4,319,141	Y1149N	probably damaging	Het
Kdm3a	T	C	6: 71,595,545	T1011A	possibly damaging	Het
Krt35	A	T	11: 100,095,672		probably null	Het
Lipn	T	A	19: 34,071,780	D115E	possibly damaging	Het
Lpin3	T	G	2: 160,896,752	L208R	probably damaging	Het
Ltf	C	A	9: 111,025,980	Q354K	probably benign	Het
Marf1	C	A	16: 14,111,702	C1680F	possibly damaging	Het
Mtss1l	T	A	8: 110,730,024	V242E	probably damaging	Het
Myo7b	T	C	18: 31,998,712	Y477C	probably damaging	Het
Nbn	T	A	4: 15,981,350	S481T	probably benign	Het
Ncoa2	A	G	1: 13,186,838	Y146H	probably damaging	Het
Ntng1	A	T	3: 109,935,180	C92*	probably null	Het
Olfr1049	T	A	2: 86,255,076	N206Y	probably damaging	Het
Olfr1077-ps1	T	C	2: 86,526,127	I17V	probably benign	Het
Olfr133	G	A	17: 38,149,494	G302D	probably benign	Het
Olfr286	C	T	15: 98,227,202	V150I	probably benign	Het
Os9	A	T	10: 127,099,678	S308T	probably benign	Het
Otx2	T	A	14: 48,658,735	T289S	probably benign	Het
Palm2	C	T	4: 57,648,042	A60V	probably benign	Het
Pigg	A	G	5: 108,336,512	T675A	possibly damaging	Het
Pink1	C	T	4: 138,315,601	E461K	probably damaging	Het
Pip5k1a	A	G	3: 95,060,498	S543P	possibly damaging	Het
Prkaa1	A	G	15: 5,177,130	T454A	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rab31	C	T	17: 65,698,017	V83I	possibly damaging	Het
Rabggtb	G	T	3: 153,910,349	D117E	probably benign	Het
Rbl1	T	C	2: 157,152,900	H951R	probably benign	Het
Sapcd2	A	G	2: 25,376,079	S314G	probably benign	Het
Sept4	T	C	11: 87,584,438	L164P	probably damaging	Het
Shroom1	A	G	11: 53,465,933	E541G	probably damaging	Het
Slc26a7	C	A	4: 14,565,460	G208*	probably null	Het
Smco2	A	G	6: 146,871,213	I304M	probably damaging	Het
Spocd1	T	C	4: 129,953,898	F552L		Het
St6galnac2	T	C	11: 116,677,635	D334G	probably damaging	Het
Sub1	A	G	15: 11,986,486	S92P	probably benign	Het
Syne2	T	C	12: 75,942,351	F1829L	probably benign	Het
Tdrd1	T	C	19: 56,851,401	V631A	probably benign	Het
Tdrd9	T	C	12: 111,992,470	S113P	probably benign	Het
Tgfbrap1	A	C	1: 43,071,565	V260G	probably damaging	Het
Tyw3	G	C	3: 154,593,789	S94R	probably benign	Het
Urb2	T	C	8: 124,030,599	V1015A	probably benign	Het
Usp5	A	G	6: 124,829,394	M1T	probably null	Het
Utrn	T	C	10: 12,684,516	D1343G	possibly damaging	Het
Vmn2r56	T	C	7: 12,715,327	Y328C	probably damaging	Het
Vmn2r99	A	T	17: 19,393,710	E564V	possibly damaging	Het
Wdr63	C	A	3: 146,040,827	K881N	possibly damaging	Het
Zc3h8	T	C	2: 128,935,321	T133A	possibly 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
IGL03165:Spg7	APN	8	123080812	critical splice donor site	probably null
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
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
R7946:Spg7	UTSW	8	123089049	critical splice donor site	probably null
Z1177:Spg7	UTSW	8	123090223	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGAGAACACCTGGACGGTC -3'
(R):5'- AAGTTCAGCTCTCCACCATG -3'

Sequencing Primer
(F):5'- ACGGTCCGCATAGCCTACTG -3'
(R):5'- TGGGACAATCTCCTCTCAGG -3'

Posted On

2019-05-15