Mutagenetix > Incidental Mutation

Incidental Mutation 'R7665:Sipa1'

591902

Institutional Source

Beutler Lab

Gene Symbol

Sipa1

Ensembl Gene

ENSMUSG00000056917

Gene Name

signal-induced proliferation associated gene 1

Synonyms

SPA-1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7665 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5651185-5663707 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5651671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 979 (S979T)

Ref Sequence

ENSEMBL: ENSMUSP00000073618 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025867] [ENSMUST00000071857] [ENSMUST00000080824] [ENSMUST00000164304] [ENSMUST00000169854]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025867

SMART Domains

Protein: ENSMUSP00000025867
Gene: ENSMUSG00000024927

Domain	Start	End	E-Value	Type
Pfam:RHD_DNA_bind	21	186	3.6e-72	PFAM
IPT	193	289	2.81e-22	SMART
low complexity region	377	389	N/A	INTRINSIC
low complexity region	399	417	N/A	INTRINSIC
PDB:2LWW\|B	425	490	1e-37	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000071857
AA Change: S979T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917
AA Change: S979T

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 benign
Transcript: ENSMUST00000080824
AA Change: S979T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917
AA Change: S979T

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 benign
Transcript: ENSMUST00000164304
AA Change: S979T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917
AA Change: S979T

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 benign
Transcript: ENSMUST00000169854
AA Change: S979T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917
AA Change: S979T

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	A	G	5: 114,874,323		probably null	Het
A830018L16Rik	T	C	1: 11,972,099	S448P	probably damaging	Het
Abca4	C	T	3: 122,044,490		probably benign	Het
Ackr2	A	G	9: 121,909,308	M250V	probably benign	Het
Actn4	A	G	7: 28,916,207	I147T	probably damaging	Het
Adgrv1	C	T	13: 81,499,142	S3093N	probably damaging	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Brwd1	G	A	16: 96,041,343	T798M	probably benign	Het
Cdk13	G	A	13: 17,772,553	T540I	possibly damaging	Het
Cdkn1c	A	G	7: 143,460,634	V25A	possibly damaging	Het
Col2a1	T	C	15: 97,976,700	E1420G	unknown	Het
Dbf4	G	A	5: 8,397,867	P448S	probably damaging	Het
Dnajb7	T	C	15: 81,407,419	N239S	probably benign	Het
Dnttip1	A	G	2: 164,754,141	D102G	probably damaging	Het
Dpp8	T	A	9: 65,078,718	V830D	probably damaging	Het
Eef1g	T	C	19: 8,968,289	V29A	probably benign	Het
Enpp2	T	A	15: 54,839,394	Y906F	probably damaging	Het
Epb41l4a	A	G	18: 34,006,016	L23P	possibly damaging	Het
Epp13	G	A	7: 6,269,892		probably null	Het
Exoc1	T	A	5: 76,543,573	M248K	probably benign	Het
Fam83b	T	C	9: 76,490,875	Y982C	probably damaging	Het
Fat4	C	T	3: 38,889,178	A740V	probably benign	Het
Fsip2	T	A	2: 82,981,805	S2823T	probably benign	Het
Gckr	T	C	5: 31,297,555			Het
Gpr150	A	T	13: 76,055,974	V284E	probably damaging	Het
Grtp1	T	G	8: 13,177,103	I344L	probably benign	Het
Heatr5a	T	A	12: 51,961,530	N10I	probably damaging	Het
Herc2	C	A	7: 56,153,155	L2109I	probably damaging	Het
Hs1bp3	T	A	12: 8,317,935	D61E	probably damaging	Het
Ifit1bl1	T	A	19: 34,594,883	Y58F	probably benign	Het
Itfg1	A	G	8: 85,764,350	F317L	probably benign	Het
Itsn1	T	C	16: 91,841,603	I764T	unknown	Het
Med8	A	C	4: 118,411,656		probably null	Het
Mpeg1	C	A	19: 12,463,094	P639T	probably damaging	Het
Nedd9	A	G	13: 41,316,309	L456P	probably benign	Het
Neo1	A	G	9: 58,925,795	S556P	probably damaging	Het
Nphp3	T	A	9: 104,005,393		probably null	Het
Nup205	T	C	6: 35,177,620	V53A	possibly damaging	Het
Nvl	A	T	1: 181,134,944	S154T	probably benign	Het
Olfr239	G	T	17: 33,199,629	G194*	probably null	Het
Olfr391-ps	A	T	11: 73,798,961	N265K	probably benign	Het
Olfr615	A	T	7: 103,561,316	I280F	probably benign	Het
Olfr706	A	T	7: 106,886,673	V48D	possibly damaging	Het
Olfr827	T	A	10: 130,211,261		probably null	Het
Olfr92	A	G	17: 37,111,391	M197T	probably benign	Het
Parvg	T	C	15: 84,337,801	I243T	probably damaging	Het
Paxip1	T	A	5: 27,765,738	M538L	unknown	Het
Pgghg	G	T	7: 140,945,469	D428Y	probably damaging	Het
Pik3cd	C	T	4: 149,654,050	V777M	possibly damaging	Het
Plcl2	A	C	17: 50,607,157	K398T	probably benign	Het
Plxna1	A	T	6: 89,324,538		probably null	Het
Rbbp6	T	C	7: 122,994,686	Y514H	possibly damaging	Het
Rbbp6	T	A	7: 122,990,032		probably null	Het
Scin	T	A	12: 40,069,415	N538I	probably damaging	Het
Sdcbp	A	G	4: 6,385,144	D121G	probably benign	Het
Sgk1	T	C	10: 21,996,662	I311T	probably damaging	Het
Shq1	A	C	6: 100,573,756	L407W	probably damaging	Het
Slc25a37	G	T	14: 69,249,579	T85K	probably benign	Het
Soga3	T	A	10: 29,196,397	Y562N	probably damaging	Het
Spag9	A	T	11: 94,013,654	Q112L	probably damaging	Het
Spg11	A	T	2: 122,066,267	V1686E	probably damaging	Het
Stap2	A	G	17: 55,997,909	V291A	probably benign	Het
Tnk2	C	T	16: 32,680,526	R886C	probably damaging	Het
Tnrc6c	T	A	11: 117,720,951	D138E	possibly damaging	Het
Unc13c	A	G	9: 73,680,474	S1426P	probably benign	Het
Vav1	G	A	17: 57,297,086	V163M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,988	K247*	probably null	Het
Zc2hc1c	T	C	12: 85,296,562	V491A	possibly damaging	Het
Zfp51	A	G	17: 21,463,581	T153A	probably benign	Het
Zyx	A	G	6: 42,356,162	E374G	probably damaging	Het

Other mutations in Sipa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01521:Sipa1	APN	19	5660978	start codon destroyed	probably null	0.79
IGL01837:Sipa1	APN	19	5652071	missense	probably damaging	0.98
IGL02858:Sipa1	APN	19	5655708	missense	probably damaging	0.99
IGL03024:Sipa1	APN	19	5656161	missense	probably damaging	1.00
R0277:Sipa1	UTSW	19	5654065	missense	probably benign
R0831:Sipa1	UTSW	19	5660354	missense	probably damaging	1.00
R0841:Sipa1	UTSW	19	5654807	missense	probably benign	0.06
R1102:Sipa1	UTSW	19	5652754	missense	probably benign
R1459:Sipa1	UTSW	19	5651664	missense	probably damaging	1.00
R1460:Sipa1	UTSW	19	5651447	missense	probably benign
R2422:Sipa1	UTSW	19	5652112	missense	possibly damaging	0.47
R3741:Sipa1	UTSW	19	5654857	missense	probably damaging	1.00
R3924:Sipa1	UTSW	19	5660379	missense	probably benign	0.05
R4231:Sipa1	UTSW	19	5654089	missense	probably damaging	1.00
R4525:Sipa1	UTSW	19	5651957	missense	probably benign	0.12
R4721:Sipa1	UTSW	19	5660385	missense	probably damaging	0.99
R5176:Sipa1	UTSW	19	5659378	missense	probably damaging	1.00
R5267:Sipa1	UTSW	19	5655758	missense	probably benign	0.10
R5375:Sipa1	UTSW	19	5659612	missense	probably damaging	0.99
R5480:Sipa1	UTSW	19	5659630	missense	possibly damaging	0.68
R5582:Sipa1	UTSW	19	5654701	missense	probably benign	0.00
R6005:Sipa1	UTSW	19	5656201	missense	probably damaging	1.00
R6329:Sipa1	UTSW	19	5651489	missense	probably damaging	1.00
R6712:Sipa1	UTSW	19	5660819	missense	possibly damaging	0.69
R7209:Sipa1	UTSW	19	5654975	missense	probably damaging	1.00
R7213:Sipa1	UTSW	19	5660523	missense	probably damaging	1.00
R7881:Sipa1	UTSW	19	5651676	missense	probably damaging	1.00
R7895:Sipa1	UTSW	19	5652662	missense	probably benign
R8116:Sipa1	UTSW	19	5652112	missense	possibly damaging	0.47
R8309:Sipa1	UTSW	19	5654936	missense	probably damaging	0.99
R8708:Sipa1	UTSW	19	5660952	missense	probably damaging	0.99
R8709:Sipa1	UTSW	19	5660952	missense	probably damaging	0.99
R9445:Sipa1	UTSW	19	5654170	missense	probably damaging	1.00
X0057:Sipa1	UTSW	19	5654920	nonsense	probably null
X0064:Sipa1	UTSW	19	5652736	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- GTGCACCCAGATGCTTAGAG -3'
(R):5'- GTTGAACGCTATCTAGGCTCTG -3'

Sequencing Primer
(F):5'- ACCCAGATGCTTAGAGGCCAG -3'
(R):5'- ATCTAGGCTCTGCATCCACAG -3'

Posted On

2019-11-12