Mutagenetix > Incidental Mutation

Incidental Mutation 'R1459:Sipa1'

250608

Institutional Source

Beutler Lab

Gene Symbol

Sipa1

Ensembl Gene

ENSMUSG00000056917

Gene Name

signal-induced proliferation associated gene 1

Synonyms

SPA-1

MMRRC Submission

039514-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1459 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

5701213-5713735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5701692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 981 (L981P)

Ref Sequence

ENSEMBL: ENSMUSP00000132345 (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 damaging
Transcript: ENSMUST00000071857
AA Change: L981P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917
AA Change: L981P

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: L981P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917
AA Change: L981P

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: L981P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917
AA Change: L981P

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: L981P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917
AA Change: L981P

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

Meta Mutation Damage Score

0.2400

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

96% (87/91)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	C	T	4: 62,450,578 (GRCm39)	R51W	probably damaging	Het
Abcb1a	T	A	5: 8,752,920 (GRCm39)	L557Q	probably damaging	Het
Abcb4	T	C	5: 8,968,662 (GRCm39)	F334L	possibly damaging	Het
Adamts14	T	A	10: 61,034,583 (GRCm39)	T1102S	probably benign	Het
Adamtsl1	T	C	4: 86,344,102 (GRCm39)	Y1719H	probably damaging	Het
Adcyap1	T	C	17: 93,507,550 (GRCm39)		probably null	Het
Ankrd13c	T	A	3: 157,677,947 (GRCm39)	L219Q	probably damaging	Het
Ano3	C	A	2: 110,711,174 (GRCm39)	A97S	probably benign	Het
Apaf1	T	C	10: 90,898,022 (GRCm39)	N245S	probably benign	Het
Apob	A	G	12: 8,056,047 (GRCm39)	T1510A	probably benign	Het
Apob	A	G	12: 8,061,937 (GRCm39)	D3473G	possibly damaging	Het
Arfgap3	G	A	15: 83,191,138 (GRCm39)	T12I	probably benign	Het
Bend4	A	G	5: 67,557,418 (GRCm39)	V466A	probably damaging	Het
Bend7	G	A	2: 4,749,239 (GRCm39)	E119K	probably damaging	Het
Capn5	G	T	7: 97,781,049 (GRCm39)	R243S	possibly damaging	Het
Cd84	A	G	1: 171,679,510 (GRCm39)	I63V	probably benign	Het
Cd86	T	A	16: 36,449,350 (GRCm39)	T16S	probably benign	Het
Cdc42bpb	A	G	12: 111,262,734 (GRCm39)		probably benign	Het
Cep20	G	A	16: 14,122,380 (GRCm39)	T128I	possibly damaging	Het
Cep95	C	T	11: 106,708,781 (GRCm39)	S26L	probably damaging	Het
Cldn19	C	T	4: 119,112,810 (GRCm39)	A14V	probably damaging	Het
Cluap1	T	A	16: 3,755,453 (GRCm39)	M356K	probably damaging	Het
Coq7	C	T	7: 118,109,260 (GRCm39)	G263S	unknown	Het
Ctnnd2	A	C	15: 30,847,445 (GRCm39)	T679P	probably damaging	Het
Dnah10	A	G	5: 124,820,750 (GRCm39)	D528G	possibly damaging	Het
Dvl1	T	A	4: 155,938,476 (GRCm39)	N133K	probably damaging	Het
Efcab7	T	G	4: 99,769,744 (GRCm39)	H550Q	probably null	Het
Fastkd5	C	T	2: 130,456,717 (GRCm39)	M624I	probably damaging	Het
Fbxo42	T	C	4: 140,895,073 (GRCm39)	V12A	probably benign	Het
Gabarapl1	T	A	6: 129,515,635 (GRCm39)	M91K	possibly damaging	Het
Gas7	A	G	11: 67,552,902 (GRCm39)	N154S	probably damaging	Het
Gm21814	T	A	6: 149,483,650 (GRCm39)		noncoding transcript	Het
Gnl3	G	A	14: 30,739,803 (GRCm39)	R12C	probably damaging	Het
Golga2	T	G	2: 32,187,807 (GRCm39)		probably null	Het
Grk3	T	A	5: 113,062,878 (GRCm39)	R656S	probably benign	Het
Gsap	T	A	5: 21,412,236 (GRCm39)		probably benign	Het
H60c	T	C	10: 3,210,240 (GRCm39)	Q103R	probably benign	Het
Hnrnpr	T	A	4: 136,056,755 (GRCm39)	S252T	probably damaging	Het
Itgb4	A	T	11: 115,869,937 (GRCm39)	T40S	probably benign	Het
Krtap27-1	T	C	16: 88,468,302 (GRCm39)	N81D	probably benign	Het
Lilrb4a	T	A	10: 51,367,683 (GRCm39)	L75Q	probably benign	Het
Lrp2	T	A	2: 69,290,821 (GRCm39)	E3546D	probably damaging	Het
Lrp2	T	A	2: 69,313,738 (GRCm39)	D2331V	probably damaging	Het
Lzts2	T	A	19: 45,009,893 (GRCm39)	V9E	probably damaging	Het
Matr3	T	A	18: 35,717,709 (GRCm39)	D302E	probably benign	Het
Mcoln2	A	G	3: 145,897,979 (GRCm39)		probably null	Het
Metap2	T	C	10: 93,704,811 (GRCm39)	D272G	probably damaging	Het
Mitf	A	G	6: 97,987,428 (GRCm39)	D337G	probably damaging	Het
Mrtfb	T	C	16: 13,219,433 (GRCm39)	V693A	possibly damaging	Het
Msh2	A	G	17: 87,985,771 (GRCm39)	E116G	probably benign	Het
Nlrp10	T	A	7: 108,523,555 (GRCm39)	M642L	probably benign	Het
Noxa1	G	T	2: 24,982,558 (GRCm39)	Q86K	probably benign	Het
Nrap	T	C	19: 56,372,562 (GRCm39)	T48A	probably benign	Het
Nup160	T	A	2: 90,520,494 (GRCm39)	H308Q	probably damaging	Het
Osbpl11	T	C	16: 33,056,699 (GRCm39)	L711P	probably damaging	Het
Osbpl6	A	G	2: 76,385,409 (GRCm39)	N281S	probably benign	Het
Pcnp	C	T	16: 55,844,703 (GRCm39)	E66K	possibly damaging	Het
Phf11	T	A	14: 59,482,227 (GRCm39)	E175D	probably damaging	Het
Pik3cg	A	G	12: 32,254,983 (GRCm39)	Y335H	probably damaging	Het
Plekhg4	T	C	8: 106,108,431 (GRCm39)	L1053S	probably damaging	Het
Plekhh2	G	T	17: 84,918,203 (GRCm39)	E1271*	probably null	Het
Ppp2r2b	T	A	18: 42,871,055 (GRCm39)	Y82F	probably damaging	Het
Prkd3	T	C	17: 79,278,796 (GRCm39)	D430G	probably damaging	Het
Prl7d1	C	T	13: 27,893,240 (GRCm39)	D224N	possibly damaging	Het
Ptpdc1	A	T	13: 48,740,173 (GRCm39)	N419K	possibly damaging	Het
Serinc5	T	A	13: 92,797,695 (GRCm39)		probably null	Het
Slc16a7	A	T	10: 125,066,489 (GRCm39)	C383*	probably null	Het
Slc19a1	C	G	10: 76,878,369 (GRCm39)	Y301*	probably null	Het
Slc22a14	A	T	9: 119,052,827 (GRCm39)	V14E	possibly damaging	Het
Slpi	C	A	2: 164,196,837 (GRCm39)	C95F	probably damaging	Het
Smurf2	G	A	11: 106,743,333 (GRCm39)	H225Y	possibly damaging	Het
Son	T	C	16: 91,452,230 (GRCm39)	S326P	possibly damaging	Het
Sptb	T	A	12: 76,658,657 (GRCm39)	K1262M	probably benign	Het
Sugp2	T	A	8: 70,696,714 (GRCm39)		probably benign	Het
Tatdn2	T	A	6: 113,687,031 (GRCm39)	H747Q	probably damaging	Het
Tcn2	C	A	11: 3,877,516 (GRCm39)	R44L	probably benign	Het
Tenm3	G	A	8: 48,689,006 (GRCm39)	R2194C	probably damaging	Het
Tnks2	T	A	19: 36,822,931 (GRCm39)		probably benign	Het
Top3a	A	T	11: 60,650,188 (GRCm39)	I120N	probably damaging	Het
Umodl1	T	A	17: 31,201,232 (GRCm39)		probably benign	Het
Umodl1	T	C	17: 31,205,478 (GRCm39)	V662A	probably benign	Het
Ush2a	T	C	1: 188,595,048 (GRCm39)	S3827P	probably benign	Het
Vasn	T	A	16: 4,466,473 (GRCm39)		probably null	Het
Vmn2r69	A	T	7: 85,055,908 (GRCm39)	C743*	probably null	Het
Vmn2r79	C	A	7: 86,687,002 (GRCm39)	H794Q	probably benign	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
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
R6005:Sipa1	UTSW	19	5,706,229 (GRCm39)	missense	probably damaging	1.00
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'- CAGTTCCAAGCAGGTCCAGATTCAG -3'
(R):5'- ACGCTATCTAGGCTCTGCATCCAC -3'

Sequencing Primer
(F):5'- GGTCCAGATTCAGATTGGAACTC -3'
(R):5'- TAGGCTCTGCATCCACAGATAC -3'

Posted On

2014-11-26