Mutagenetix > Incidental Mutation

Incidental Mutation 'R6005:Sipa1'

479455

Institutional Source

Beutler Lab

Gene Symbol

Sipa1

Ensembl Gene

ENSMUSG00000056917

Gene Name

signal-induced proliferation associated gene 1

Synonyms

SPA-1

MMRRC Submission

044425-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6005 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5701213-5713735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5706229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 367 (V367A)

Ref Sequence

ENSEMBL: ENSMUSP00000132345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071857] [ENSMUST00000080824] [ENSMUST00000164304] [ENSMUST00000169854]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071857
AA Change: V367A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917
AA Change: V367A

Domain	Start	End	E-Value	Type
low complexity region	59	70	N/A	INTRINSIC
low complexity region	90	103	N/A	INTRINSIC
low complexity region	164	192	N/A	INTRINSIC
low complexity region	278	292	N/A	INTRINSIC
Pfam:Rap_GAP	346	529	7.2e-64	PFAM
low complexity region	580	593	N/A	INTRINSIC
PDZ	692	758	9.51e-7	SMART
low complexity region	828	841	N/A	INTRINSIC
low complexity region	872	883	N/A	INTRINSIC
coiled coil region	969	1023	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000080824
AA Change: V367A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917
AA Change: V367A

Domain	Start	End	E-Value	Type
low complexity region	59	70	N/A	INTRINSIC
low complexity region	90	103	N/A	INTRINSIC
low complexity region	164	192	N/A	INTRINSIC
low complexity region	278	292	N/A	INTRINSIC
Pfam:Rap_GAP	346	535	4.4e-60	PFAM
low complexity region	580	593	N/A	INTRINSIC
PDZ	692	758	9.51e-7	SMART
low complexity region	828	841	N/A	INTRINSIC
low complexity region	872	883	N/A	INTRINSIC
coiled coil region	969	1023	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164304
AA Change: V367A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917
AA Change: V367A

Domain	Start	End	E-Value	Type
low complexity region	59	70	N/A	INTRINSIC
low complexity region	90	103	N/A	INTRINSIC
low complexity region	164	192	N/A	INTRINSIC
low complexity region	278	292	N/A	INTRINSIC
Pfam:Rap_GAP	346	535	4.4e-60	PFAM
low complexity region	580	593	N/A	INTRINSIC
PDZ	692	758	9.51e-7	SMART
low complexity region	828	841	N/A	INTRINSIC
low complexity region	872	883	N/A	INTRINSIC
coiled coil region	969	1023	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169854
AA Change: V367A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917
AA Change: V367A

Domain	Start	End	E-Value	Type
low complexity region	59	70	N/A	INTRINSIC
low complexity region	90	103	N/A	INTRINSIC
low complexity region	164	192	N/A	INTRINSIC
low complexity region	278	292	N/A	INTRINSIC
Pfam:Rap_GAP	346	535	4.4e-60	PFAM
low complexity region	580	593	N/A	INTRINSIC
PDZ	692	758	9.51e-7	SMART
low complexity region	828	841	N/A	INTRINSIC
low complexity region	872	883	N/A	INTRINSIC
coiled coil region	969	1023	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display chronic myelocytic leukemia in either the chronic phase or blast crisis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	A	T	15: 85,378,310 (GRCm39)	I111N	unknown	Het
Adgb	C	T	10: 10,271,096 (GRCm39)	R849H	probably damaging	Het
Ahnak	T	C	19: 8,992,525 (GRCm39)	V4603A	possibly damaging	Het
Ank1	A	G	8: 23,622,218 (GRCm39)	D1589G	probably damaging	Het
Ankrd2	A	G	19: 42,028,554 (GRCm39)	D70G	probably damaging	Het
Arid2	T	C	15: 96,268,853 (GRCm39)	S989P	probably benign	Het
Bbs1	A	T	19: 4,953,823 (GRCm39)	Y113*	probably null	Het
Bfsp2	T	G	9: 103,325,749 (GRCm39)	K298T	probably damaging	Het
Bpi	G	A	2: 158,104,400 (GRCm39)	V168I	possibly damaging	Het
Cacna2d1	T	C	5: 16,566,819 (GRCm39)	S921P	probably damaging	Het
Clec4d	A	C	6: 123,244,118 (GRCm39)	T76P	probably damaging	Het
Coq8b	C	T	7: 26,956,750 (GRCm39)	Q468*	probably null	Het
Dennd6b	T	C	15: 89,072,371 (GRCm39)	E248G	possibly damaging	Het
Ednra	A	G	8: 78,401,556 (GRCm39)	S245P	possibly damaging	Het
Epb41l4a	C	T	18: 33,961,196 (GRCm39)	C446Y	probably benign	Het
Fam221a	A	G	6: 49,344,756 (GRCm39)		probably benign	Het
Fam229a	T	C	4: 129,385,296 (GRCm39)	S76P	probably benign	Het
Fryl	C	T	5: 73,240,638 (GRCm39)	D1321N	probably damaging	Het
Gata3os	T	C	2: 9,887,638 (GRCm39)		probably benign	Het
Gli2	C	T	1: 118,769,794 (GRCm39)	R586H	probably damaging	Het
Gm94	C	T	18: 43,925,862 (GRCm39)	A16T	possibly damaging	Het
Gorasp2	T	C	2: 70,521,095 (GRCm39)	V355A	probably benign	Het
Grid1	C	A	14: 35,045,369 (GRCm39)	T404N	probably damaging	Het
Gtf2i	C	A	5: 134,284,812 (GRCm39)	E475*	probably null	Het
Gucy1a2	T	C	9: 3,865,518 (GRCm39)		probably null	Het
Hs3st5	T	A	10: 36,708,924 (GRCm39)	I153N	probably damaging	Het
Il11ra1	T	C	4: 41,763,887 (GRCm39)		probably null	Het
Ireb2	G	A	9: 54,816,089 (GRCm39)	G887S	probably damaging	Het
Kdsr	T	C	1: 106,662,311 (GRCm39)	E248G	probably benign	Het
Lemd2	C	G	17: 27,409,759 (GRCm39)	R464P	probably damaging	Het
Lrrfip1	T	C	1: 91,042,333 (GRCm39)	V246A	probably damaging	Het
Macf1	T	A	4: 123,368,068 (GRCm39)	D2231V	possibly damaging	Het
Map2k5	C	T	9: 63,188,301 (GRCm39)	D283N	probably damaging	Het
Mfsd5	A	G	15: 102,189,927 (GRCm39)	D433G	possibly damaging	Het
Mir700	C	A	4: 135,139,618 (GRCm39)		probably null	Het
Mroh9	A	T	1: 162,903,246 (GRCm39)	F52L	probably damaging	Het
Mtrfr	G	T	5: 124,478,837 (GRCm39)	E153*	probably null	Het
Mycbp2	A	C	14: 103,394,159 (GRCm39)	S2691A	probably benign	Het
Myorg	T	A	4: 41,498,895 (GRCm39)	H245L	probably benign	Het
Nktr	T	A	9: 121,577,460 (GRCm39)		probably benign	Het
Obsl1	C	A	1: 75,468,859 (GRCm39)		probably null	Het
Or10ag60	A	T	2: 87,438,424 (GRCm39)	I231F	probably damaging	Het
Or52r1b	A	T	7: 102,690,853 (GRCm39)	I51F	probably damaging	Het
Or5aq7	A	G	2: 86,938,407 (GRCm39)	V108A	probably benign	Het
Or7g35	C	T	9: 19,496,181 (GRCm39)	T116I	probably benign	Het
Or8c11	T	C	9: 38,289,605 (GRCm39)	S137P	probably damaging	Het
Pcdhb22	T	A	18: 37,652,789 (GRCm39)	I162N	possibly damaging	Het
Pde1c	A	T	6: 56,456,187 (GRCm39)		probably null	Het
Pds5b	A	G	5: 150,693,241 (GRCm39)		probably null	Het
Pkd1l1	A	C	11: 8,807,113 (GRCm39)	W1568G	probably damaging	Het
Polr3c	A	T	3: 96,626,784 (GRCm39)	M258K	possibly damaging	Het
Pramel23	T	A	4: 143,425,002 (GRCm39)	H147L	probably benign	Het
Prss12	A	T	3: 123,276,417 (GRCm39)	I349F	probably benign	Het
Ptpn21	A	G	12: 98,644,811 (GRCm39)	*1177Q	probably null	Het
Rgs22	T	A	15: 36,010,713 (GRCm39)	K1125M	probably benign	Het
Rnf182	A	G	13: 43,821,511 (GRCm39)	K21E	probably damaging	Het
Rpl6	G	A	5: 121,343,577 (GRCm39)		probably benign	Het
Samsn1	C	T	16: 75,670,402 (GRCm39)	V234I	probably benign	Het
Scrib	A	G	15: 75,929,600 (GRCm39)	I1089T	probably damaging	Het
Sec31a	T	C	5: 100,511,737 (GRCm39)	T1092A	probably damaging	Het
Sh3bp2	G	T	5: 34,719,809 (GRCm39)	R606L	possibly damaging	Het
Slc25a44	C	T	3: 88,320,153 (GRCm39)	E269K	probably damaging	Het
Slc44a4	T	A	17: 35,142,430 (GRCm39)	M353K	possibly damaging	Het
Sorcs2	A	G	5: 36,176,728 (GRCm39)	S1142P	probably damaging	Het
Sptbn4	A	G	7: 27,118,024 (GRCm39)	F352L	probably damaging	Het
Synj1	A	T	16: 90,766,174 (GRCm39)	N541K	probably damaging	Het
Tas2r113	G	A	6: 132,870,659 (GRCm39)	R229K	probably benign	Het
Tcaf3	A	T	6: 42,566,905 (GRCm39)	I728K	probably benign	Het
Tcea1	A	G	1: 4,960,996 (GRCm39)	E167G	probably benign	Het
Timeless	G	A	10: 128,080,069 (GRCm39)	R406H	probably damaging	Het
Traf6	C	T	2: 101,527,029 (GRCm39)	R260*	probably null	Het
Traj31	C	T	14: 54,425,388 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,599,907 (GRCm39)	V19089D	probably damaging	Het
Unc80	C	T	1: 66,666,416 (GRCm39)	S1868L	possibly damaging	Het
Wdr38	A	T	2: 38,891,333 (GRCm39)	I287F	possibly damaging	Het
Wnt2	G	A	6: 18,030,322 (GRCm39)		probably benign	Het
Wnt5b	G	A	6: 119,410,615 (GRCm39)	P288L	probably benign	Het
Xkr5	G	T	8: 18,984,521 (GRCm39)	N174K	probably benign	Het
Zbtb6	C	T	2: 37,318,977 (GRCm39)	R317Q	probably damaging	Het
Zcchc7	AGGGG	AGGG	4: 44,931,218 (GRCm39)		probably null	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het

Other mutations in Sipa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01521:Sipa1	APN	19	5,711,006 (GRCm39)	start codon destroyed	probably null	0.79
IGL01837:Sipa1	APN	19	5,702,099 (GRCm39)	missense	probably damaging	0.98
IGL02858:Sipa1	APN	19	5,705,736 (GRCm39)	missense	probably damaging	0.99
IGL03024:Sipa1	APN	19	5,706,189 (GRCm39)	missense	probably damaging	1.00
R0277:Sipa1	UTSW	19	5,704,093 (GRCm39)	missense	probably benign
R0831:Sipa1	UTSW	19	5,710,382 (GRCm39)	missense	probably damaging	1.00
R0841:Sipa1	UTSW	19	5,704,835 (GRCm39)	missense	probably benign	0.06
R1102:Sipa1	UTSW	19	5,702,782 (GRCm39)	missense	probably benign
R1459:Sipa1	UTSW	19	5,701,692 (GRCm39)	missense	probably damaging	1.00
R1460:Sipa1	UTSW	19	5,701,475 (GRCm39)	missense	probably benign
R2422:Sipa1	UTSW	19	5,702,140 (GRCm39)	missense	possibly damaging	0.47
R3741:Sipa1	UTSW	19	5,704,885 (GRCm39)	missense	probably damaging	1.00
R3924:Sipa1	UTSW	19	5,710,407 (GRCm39)	missense	probably benign	0.05
R4231:Sipa1	UTSW	19	5,704,117 (GRCm39)	missense	probably damaging	1.00
R4525:Sipa1	UTSW	19	5,701,985 (GRCm39)	missense	probably benign	0.12
R4721:Sipa1	UTSW	19	5,710,413 (GRCm39)	missense	probably damaging	0.99
R5176:Sipa1	UTSW	19	5,709,406 (GRCm39)	missense	probably damaging	1.00
R5267:Sipa1	UTSW	19	5,705,786 (GRCm39)	missense	probably benign	0.10
R5375:Sipa1	UTSW	19	5,709,640 (GRCm39)	missense	probably damaging	0.99
R5480:Sipa1	UTSW	19	5,709,658 (GRCm39)	missense	possibly damaging	0.68
R5582:Sipa1	UTSW	19	5,704,729 (GRCm39)	missense	probably benign	0.00
R6329:Sipa1	UTSW	19	5,701,517 (GRCm39)	missense	probably damaging	1.00
R6712:Sipa1	UTSW	19	5,710,847 (GRCm39)	missense	possibly damaging	0.69
R7209:Sipa1	UTSW	19	5,705,003 (GRCm39)	missense	probably damaging	1.00
R7213:Sipa1	UTSW	19	5,710,551 (GRCm39)	missense	probably damaging	1.00
R7665:Sipa1	UTSW	19	5,701,699 (GRCm39)	missense	probably benign	0.00
R7881:Sipa1	UTSW	19	5,701,704 (GRCm39)	missense	probably damaging	1.00
R7895:Sipa1	UTSW	19	5,702,690 (GRCm39)	missense	probably benign
R8116:Sipa1	UTSW	19	5,702,140 (GRCm39)	missense	possibly damaging	0.47
R8309:Sipa1	UTSW	19	5,704,964 (GRCm39)	missense	probably damaging	0.99
R8708:Sipa1	UTSW	19	5,710,980 (GRCm39)	missense	probably damaging	0.99
R8709:Sipa1	UTSW	19	5,710,980 (GRCm39)	missense	probably damaging	0.99
R9445:Sipa1	UTSW	19	5,704,198 (GRCm39)	missense	probably damaging	1.00
X0057:Sipa1	UTSW	19	5,704,948 (GRCm39)	nonsense	probably null
X0064:Sipa1	UTSW	19	5,702,764 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- GGTGCTGAGATAGAACGAATCC -3'
(R):5'- TCCCATTCTCTACAGGGTGG -3'

Sequencing Primer
(F):5'- CGAATCCAGAAATAAGACTTAGAGG -3'
(R):5'- CATTCTCTACAGGGTGGGCTGC -3'

Posted On

2017-06-26