Mutagenetix > Incidental Mutation

Incidental Mutation 'R4721:Sipa1'

354505

Institutional Source

Beutler Lab

Gene Symbol

Sipa1

Ensembl Gene

ENSMUSG00000056917

Gene Name

signal-induced proliferation associated gene 1

Synonyms

SPA-1

MMRRC Submission

041986-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5701213-5713735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5710413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 199 (R199Q)

Ref Sequence

ENSEMBL: ENSMUSP00000132345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068169] [ENSMUST00000071857] [ENSMUST00000080824] [ENSMUST00000113615] [ENSMUST00000164304] [ENSMUST00000169854]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000068169

SMART Domains

Protein: ENSMUSP00000063786
Gene: ENSMUSG00000054874

Domain	Start	End	E-Value	Type
transmembrane domain	36	53	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	370	376	N/A	INTRINSIC
transmembrane domain	385	407	N/A	INTRINSIC
transmembrane domain	411	428	N/A	INTRINSIC
transmembrane domain	441	463	N/A	INTRINSIC
transmembrane domain	473	492	N/A	INTRINSIC
transmembrane domain	501	523	N/A	INTRINSIC
transmembrane domain	538	560	N/A	INTRINSIC
transmembrane domain	573	592	N/A	INTRINSIC
transmembrane domain	645	667	N/A	INTRINSIC
transmembrane domain	669	691	N/A	INTRINSIC
low complexity region	1011	1025	N/A	INTRINSIC
Pfam:Pecanex_C	1159	1389	7.5e-124	PFAM
low complexity region	1462	1479	N/A	INTRINSIC
low complexity region	1481	1510	N/A	INTRINSIC
low complexity region	1525	1538	N/A	INTRINSIC
low complexity region	1558	1569	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000071857
AA Change: R199Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917
AA Change: R199Q

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: R199Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917
AA Change: R199Q

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: ENSMUST00000113615

SMART Domains

Protein: ENSMUSP00000109245
Gene: ENSMUSG00000054874

Domain	Start	End	E-Value	Type
transmembrane domain	36	53	N/A	INTRINSIC
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	99	111	N/A	INTRINSIC
low complexity region	438	459	N/A	INTRINSIC
low complexity region	778	784	N/A	INTRINSIC
transmembrane domain	793	815	N/A	INTRINSIC
transmembrane domain	819	836	N/A	INTRINSIC
transmembrane domain	849	871	N/A	INTRINSIC
transmembrane domain	881	900	N/A	INTRINSIC
transmembrane domain	909	931	N/A	INTRINSIC
transmembrane domain	946	968	N/A	INTRINSIC
transmembrane domain	981	1000	N/A	INTRINSIC
transmembrane domain	1053	1075	N/A	INTRINSIC
transmembrane domain	1077	1099	N/A	INTRINSIC
low complexity region	1419	1433	N/A	INTRINSIC
Pfam:Pecanex_C	1570	1796	5.9e-116	PFAM
low complexity region	1870	1887	N/A	INTRINSIC
low complexity region	1889	1918	N/A	INTRINSIC
low complexity region	1933	1946	N/A	INTRINSIC
low complexity region	1966	1977	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146638

Predicted Effect

probably damaging
Transcript: ENSMUST00000164304
AA Change: R199Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917
AA Change: R199Q

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: R199Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917
AA Change: R199Q

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

0.1248

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (90/92)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,385,107 (GRCm39)	D286G	probably benign	Het
Abca15	G	A	7: 119,949,998 (GRCm39)	E491K	probably benign	Het
Acsl5	A	G	19: 55,268,962 (GRCm39)	T208A	probably benign	Het
Adamts10	T	A	17: 33,764,511 (GRCm39)		probably null	Het
Ahcyl1	T	C	3: 107,577,233 (GRCm39)	Q313R	possibly damaging	Het
Ccdc71	C	T	9: 108,340,622 (GRCm39)	S145L	possibly damaging	Het
Cep250	A	G	2: 155,812,119 (GRCm39)	T472A	probably damaging	Het
Copa	T	C	1: 171,931,841 (GRCm39)		probably benign	Het
Crybg1	C	A	10: 43,873,883 (GRCm39)	R1075L	probably damaging	Het
Ddr2	T	A	1: 169,832,809 (GRCm39)	K84*	probably null	Het
Ddx59	C	T	1: 136,344,844 (GRCm39)	P172S	probably benign	Het
Dhx34	T	A	7: 15,931,307 (GRCm39)	Q1118L	possibly damaging	Het
Dkkl1	T	A	7: 44,857,232 (GRCm39)	I112F	probably damaging	Het
Dnah8	T	A	17: 30,944,140 (GRCm39)	C1786S	probably damaging	Het
Eml6	T	A	11: 29,788,525 (GRCm39)	D520V	possibly damaging	Het
Ergic1	T	A	17: 26,857,750 (GRCm39)	V192E	probably damaging	Het
Fat3	T	C	9: 15,941,262 (GRCm39)	E1343G	probably damaging	Het
Fxr1	T	C	3: 34,118,381 (GRCm39)	S535P	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm15446	C	T	5: 110,090,866 (GRCm39)	H373Y	probably damaging	Het
Gpr157	A	T	4: 150,183,420 (GRCm39)	N197Y	probably benign	Het
Grid2	G	A	6: 64,643,185 (GRCm39)	M982I	probably benign	Het
Hey2	G	T	10: 30,710,304 (GRCm39)	R150S	possibly damaging	Het
Hmcn1	T	C	1: 150,648,322 (GRCm39)		probably null	Het
Ighv3-3	G	A	12: 114,160,156 (GRCm39)	R85*	probably null	Het
Ighv5-4	A	T	12: 113,561,060 (GRCm39)		probably benign	Het
Igsf21	A	G	4: 139,834,621 (GRCm39)	S84P	probably benign	Het
Kif20b	A	G	19: 34,915,773 (GRCm39)	T517A	probably benign	Het
Krt87	T	C	15: 101,385,863 (GRCm39)	E244G	probably damaging	Het
Lrp1	T	C	10: 127,390,928 (GRCm39)	T2990A	possibly damaging	Het
Lrp1b	T	A	2: 40,605,381 (GRCm39)		probably null	Het
Lrrc42	A	T	4: 107,091,050 (GRCm39)	S382T	probably benign	Het
Magi2	C	T	5: 20,739,467 (GRCm39)	R737W	probably damaging	Het
Mcc	A	G	18: 44,652,623 (GRCm39)	L267P	probably damaging	Het
Mzf1	T	A	7: 12,777,223 (GRCm39)	Q727L	possibly damaging	Het
Mzf1	C	T	7: 12,777,448 (GRCm39)	R652Q	possibly damaging	Het
Nkain3	C	T	4: 20,485,015 (GRCm39)	A21T	probably damaging	Het
Nlrp4e	T	A	7: 23,020,521 (GRCm39)	V336E	possibly damaging	Het
Nptn	C	T	9: 58,548,059 (GRCm39)	R155C	probably damaging	Het
Nr2c2	T	C	6: 92,116,828 (GRCm39)	I10T	possibly damaging	Het
Or12e13	T	A	2: 87,663,515 (GRCm39)	I44N	probably damaging	Het
Or1e26	C	T	11: 73,480,273 (GRCm39)	C97Y	probably damaging	Het
Or1j13	T	C	2: 36,369,836 (GRCm39)	Y102C	probably benign	Het
Pdzk1	G	T	3: 96,776,518 (GRCm39)	E493*	probably null	Het
Plekhh1	GTCAAA	G	12: 79,122,194 (GRCm39)		probably null	Het
Polr3b	T	C	10: 84,491,867 (GRCm39)	V342A	possibly damaging	Het
Prg3	T	C	2: 84,821,750 (GRCm39)	V125A	possibly damaging	Het
Raph1	G	A	1: 60,542,160 (GRCm39)		probably benign	Het
Rassf2	A	G	2: 131,846,358 (GRCm39)	V133A	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Rbpjl	A	C	2: 164,246,447 (GRCm39)	S31R	probably benign	Het
Reln	A	G	5: 22,124,220 (GRCm39)	V2762A	probably damaging	Het
Rxrg	T	A	1: 167,452,621 (GRCm39)	I141N	probably damaging	Het
Scn7a	C	A	2: 66,514,529 (GRCm39)	G1082C	probably damaging	Het
Selenon	C	A	4: 134,270,387 (GRCm39)	E322*	probably null	Het
Slc26a7	A	T	4: 14,510,261 (GRCm39)		probably null	Het
Slc37a4	T	C	9: 44,312,787 (GRCm39)	S314P	possibly damaging	Het
Smarce1	T	C	11: 99,111,543 (GRCm39)	I59V	probably benign	Het
Stk19	T	C	17: 35,042,120 (GRCm39)		probably null	Het
Susd2	C	T	10: 75,473,964 (GRCm39)	D544N	probably benign	Het
Tcf7l2	G	T	19: 55,919,886 (GRCm39)	R465L	possibly damaging	Het
Tfap2d	T	A	1: 19,174,984 (GRCm39)	S146T	possibly damaging	Het
Tmem156	A	G	5: 65,248,870 (GRCm39)	F10S	probably benign	Het
Tmem63c	G	T	12: 87,103,954 (GRCm39)	A68S	possibly damaging	Het
Tnfrsf21	T	C	17: 43,396,395 (GRCm39)	C560R	probably damaging	Het
Trav10n	C	T	14: 53,359,590 (GRCm39)	T7I	probably benign	Het
Ttc38	C	T	15: 85,722,947 (GRCm39)	R132W	probably benign	Het
Tvp23a	T	C	16: 10,245,275 (GRCm39)	K108R	probably benign	Het
Vmn1r233	T	C	17: 21,214,879 (GRCm39)	M24V	probably benign	Het
Vmn1r88	T	A	7: 12,912,451 (GRCm39)	L269*	probably null	Het
Vmn2r101	T	A	17: 19,832,287 (GRCm39)	M761K	probably damaging	Het
Vps13b	C	T	15: 35,910,864 (GRCm39)	Q3543*	probably null	Het
Wdr37	T	C	13: 8,904,065 (GRCm39)	E101G	possibly damaging	Het
Zc3hc1	A	G	6: 30,374,899 (GRCm39)	V214A	probably benign	Het
Zcchc9	A	T	13: 91,948,728 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,347,951 (GRCm39)	Q2110L	possibly damaging	Het
Zfp516	T	G	18: 82,975,236 (GRCm39)	L478R	possibly 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
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'- TCAGAGTTGAGCCAACAGAGC -3'
(R):5'- AACTCTGGGACCTTAGCTGAG -3'

Sequencing Primer
(F):5'- GTTGAGCCAACAGAGCCCAATTC -3'
(R):5'- TTAGCTGAGGGCCAGACTAC -3'

Posted On

2015-10-21