Mutagenetix > Incidental Mutation

Incidental Mutation 'R1460:Sipa1'

162107

Institutional Source

Beutler Lab

Gene Symbol

Sipa1

Ensembl Gene

ENSMUSG00000056917

Gene Name

signal-induced proliferation associated gene 1

Synonyms

SPA-1

MMRRC Submission

039515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1460 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5701213-5713735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5701475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1029 (H1029L)

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 benign
Transcript: ENSMUST00000071857
AA Change: H1029L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073618
Gene: ENSMUSG00000056917
AA Change: H1029L

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: H1029L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000079637
Gene: ENSMUSG00000056917
AA Change: H1029L

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: H1029L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128208
Gene: ENSMUSG00000056917
AA Change: H1029L

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: H1029L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132345
Gene: ENSMUSG00000056917
AA Change: H1029L

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

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 89.1%

Validation Efficiency

94% (93/99)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	T	4: 109,388,407 (GRCm39)		probably null	Het
Abcb11	A	G	2: 69,087,718 (GRCm39)		probably benign	Het
Abi3bp	T	C	16: 56,382,780 (GRCm39)	V130A	probably damaging	Het
Adamts4	A	G	1: 171,084,009 (GRCm39)		probably benign	Het
Adgrd1	A	G	5: 129,199,627 (GRCm39)	T155A	possibly damaging	Het
Ano3	A	T	2: 110,513,103 (GRCm39)	S631T	probably damaging	Het
Ass1	G	A	2: 31,404,753 (GRCm39)	V345I	probably benign	Het
Atg7	G	A	6: 114,680,325 (GRCm39)	A384T	probably damaging	Het
Atp6v0a1	T	A	11: 100,924,824 (GRCm39)	I303N	probably damaging	Het
B3gntl1	T	G	11: 121,530,624 (GRCm39)	Y149S	probably damaging	Het
Btnl2	A	G	17: 34,585,424 (GRCm39)	D475G	probably benign	Het
Cdcp1	A	T	9: 123,009,092 (GRCm39)	S529T	possibly damaging	Het
Cenpt	A	G	8: 106,575,520 (GRCm39)	L194P	probably damaging	Het
Cfhr4	T	A	1: 139,625,934 (GRCm39)	I788F	probably damaging	Het
Chmp4b	A	G	2: 154,534,515 (GRCm39)	D177G	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cish	G	T	9: 107,177,596 (GRCm39)	E91*	probably null	Het
Col22a1	T	C	15: 71,693,780 (GRCm39)	D740G	unknown	Het
Cplane2	T	C	4: 140,945,523 (GRCm39)	F125L	probably damaging	Het
Crocc	G	A	4: 140,756,551 (GRCm39)	Q1025*	probably null	Het
Ctrc	C	A	4: 141,566,120 (GRCm39)		probably benign	Het
Cyb5r2	T	A	7: 107,356,450 (GRCm39)	D7V	probably benign	Het
Dhx29	T	C	13: 113,101,744 (GRCm39)		probably benign	Het
Dhx9	A	C	1: 153,341,426 (GRCm39)	D607E	probably benign	Het
Dnajb7	C	T	15: 81,291,888 (GRCm39)	G150R	probably benign	Het
Dnase1l3	T	A	14: 7,974,050 (GRCm38)	T214S	probably benign	Het
Dpm1	A	T	2: 168,052,549 (GRCm39)	I229N	probably damaging	Het
Dstn	T	C	2: 143,780,408 (GRCm39)	V36A	possibly damaging	Het
Entpd1	T	C	19: 40,714,632 (GRCm39)	V247A	probably damaging	Het
Ephb3	C	A	16: 21,037,672 (GRCm39)	H277Q	probably benign	Het
Etl4	A	T	2: 20,793,288 (GRCm39)	N671I	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fancd2os	G	A	6: 113,574,973 (GRCm39)	T11I	probably damaging	Het
Fcrlb	G	T	1: 170,739,853 (GRCm39)		probably benign	Het
Fhip1a	T	C	3: 85,638,183 (GRCm39)	I39V	probably damaging	Het
Gm9991	T	C	1: 90,606,780 (GRCm39)		noncoding transcript	Het
Gstk1	C	T	6: 42,223,529 (GRCm39)	R40W	probably damaging	Het
Gstt1	C	T	10: 75,620,004 (GRCm39)	V190M	probably damaging	Het
Hectd2	G	A	19: 36,592,908 (GRCm39)	W691*	probably null	Het
Hecw2	T	C	1: 53,852,404 (GRCm39)	T1572A	probably damaging	Het
Hoxa5	T	C	6: 52,180,928 (GRCm39)	T135A	probably benign	Het
Igfl3	T	A	7: 17,913,880 (GRCm39)	C77S	possibly damaging	Het
Itgb4	A	G	11: 115,874,990 (GRCm39)	D449G	probably damaging	Het
Larp1b	T	C	3: 40,916,653 (GRCm39)	V11A	probably benign	Het
Lhx9	A	G	1: 138,766,447 (GRCm39)		probably benign	Het
Lig3	G	T	11: 82,686,624 (GRCm39)		probably benign	Het
Lipo4	A	C	19: 33,476,718 (GRCm39)	F343L	probably benign	Het
Lyn	T	A	4: 3,789,908 (GRCm39)	Y480*	probably null	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mill1	C	A	7: 17,996,595 (GRCm39)	A137D	probably damaging	Het
Mmut	T	C	17: 41,248,266 (GRCm39)	Y98H	probably damaging	Het
Morc2a	A	T	11: 3,633,794 (GRCm39)	R635S	probably benign	Het
Mpped2	A	G	2: 106,575,237 (GRCm39)		probably benign	Het
Mug2	T	C	6: 122,017,492 (GRCm39)		probably benign	Het
Mynn	C	A	3: 30,657,853 (GRCm39)	S57Y	probably damaging	Het
Myo3b	G	A	2: 70,062,798 (GRCm39)	E333K	probably benign	Het
Myt1	A	T	2: 181,444,725 (GRCm39)	I514F	probably damaging	Het
Nlrp4f	A	G	13: 65,338,082 (GRCm39)	C708R	probably benign	Het
Nod2	A	G	8: 89,390,440 (GRCm39)	E249G	probably damaging	Het
Npy2r	T	C	3: 82,448,251 (GRCm39)	I175V	probably benign	Het
Obscn	A	T	11: 58,946,792 (GRCm39)	V4114D	probably damaging	Het
Or1l8	A	T	2: 36,817,820 (GRCm39)	M102K	probably damaging	Het
Or2y12	T	A	11: 49,426,504 (GRCm39)	M164K	possibly damaging	Het
Or4a76	A	G	2: 89,460,282 (GRCm39)		probably null	Het
Or52e7	T	A	7: 104,684,915 (GRCm39)	I170N	possibly damaging	Het
Or8g33	A	G	9: 39,337,503 (GRCm39)	M288T	probably benign	Het
Pbxip1	T	A	3: 89,352,921 (GRCm39)	I196N	probably damaging	Het
Piezo1	G	A	8: 123,228,890 (GRCm39)	T209M	possibly damaging	Het
Polr1a	T	C	6: 71,918,368 (GRCm39)	M642T	probably damaging	Het
Prdm4	T	C	10: 85,743,686 (GRCm39)	M190V	probably benign	Het
Psmd7	G	A	8: 108,307,691 (GRCm39)	S264L	possibly damaging	Het
Qrich1	T	G	9: 108,410,846 (GRCm39)		probably benign	Het
Rapgef4	G	T	2: 71,861,520 (GRCm39)		probably null	Het
Rfx5	T	C	3: 94,863,636 (GRCm39)	I95T	probably damaging	Het
Rgr	G	A	14: 36,767,683 (GRCm39)	R113C	probably damaging	Het
Rnf20	T	C	4: 49,645,873 (GRCm39)		probably benign	Het
Rps3a1	G	A	3: 86,045,369 (GRCm39)	A241V	probably benign	Het
Rttn	A	T	18: 89,127,481 (GRCm39)		probably benign	Het
Scn2a	A	G	2: 65,532,187 (GRCm39)	T600A	probably damaging	Het
Scyl2	T	C	10: 89,493,751 (GRCm39)	D339G	possibly damaging	Het
Slc49a4	T	C	16: 35,539,736 (GRCm39)	T362A	probably benign	Het
Snrnp48	A	G	13: 38,395,081 (GRCm39)	T124A	probably benign	Het
Sptbn1	A	T	11: 30,088,637 (GRCm39)	M875K	possibly damaging	Het
Supt6	A	G	11: 78,113,024 (GRCm39)	V973A	possibly damaging	Het
Supv3l1	T	C	10: 62,279,162 (GRCm39)		probably benign	Het
Svep1	G	T	4: 58,068,740 (GRCm39)	N3015K	possibly damaging	Het
Tgfb3	A	G	12: 86,105,841 (GRCm39)		probably benign	Het
Trerf1	A	G	17: 47,628,771 (GRCm39)		noncoding transcript	Het
Trim24	T	A	6: 37,941,761 (GRCm39)	F904I	probably damaging	Het
Trim30d	T	A	7: 104,121,311 (GRCm39)	Y328F	probably benign	Het
Ttn	T	C	2: 76,698,717 (GRCm39)	E6G	probably damaging	Het
Ube2m	T	C	7: 12,769,762 (GRCm39)		probably benign	Het
Vmn2r-ps158	A	T	7: 42,672,639 (GRCm39)	R91S	probably benign	Het
Wdr90	A	T	17: 26,079,422 (GRCm39)	S237R	possibly damaging	Het
Zfp735	A	T	11: 73,603,159 (GRCm39)	H701L	possibly damaging	Het
Zp1	T	C	19: 10,896,242 (GRCm39)	D161G	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
R1459:Sipa1	UTSW	19	5,701,692 (GRCm39)	missense	probably damaging	1.00
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'- TTAGCCACCAAATGGGCTGGGAAG -3'
(R):5'- ACGCTATCTAGGCTCTGCATCCAC -3'

Sequencing Primer
(F):5'- GAGGGGGCAGTGCTAAGAC -3'
(R):5'- GAGCCTGTCAGAAAAGGTCTCTC -3'

Posted On

2014-03-14