Mutagenetix > Incidental Mutation

Incidental Mutation 'R1994:Sipa1l3'

224137

Institutional Source

Beutler Lab

Gene Symbol

Sipa1l3

Ensembl Gene

ENSMUSG00000030583

Gene Name

signal-induced proliferation-associated 1 like 3

Synonyms

2610511M17Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

R1994 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

29019797-29218066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29099036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 411 (D411G)

Ref Sequence

ENSEMBL: ENSMUSP00000138171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085809] [ENSMUST00000181975] [ENSMUST00000183096]

AlphaFold

G3X9J0

Predicted Effect

probably benign
Transcript: ENSMUST00000085809
AA Change: D411G

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000082965
Gene: ENSMUSG00000030583
AA Change: D411G

Domain	Start	End	E-Value	Type
low complexity region	54	69	N/A	INTRINSIC
low complexity region	361	380	N/A	INTRINSIC
low complexity region	407	419	N/A	INTRINSIC
Pfam:Rap_GAP	634	816	1.7e-68	PFAM
PDZ	969	1035	1.39e-8	SMART
low complexity region	1053	1064	N/A	INTRINSIC
low complexity region	1190	1201	N/A	INTRINSIC
low complexity region	1260	1277	N/A	INTRINSIC
low complexity region	1283	1294	N/A	INTRINSIC
Pfam:SPAR_C	1471	1721	1.6e-96	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182011

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182702

Predicted Effect

probably benign
Transcript: ENSMUST00000183096
AA Change: D411G

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138171
Gene: ENSMUSG00000030583
AA Change: D411G

Domain	Start	End	E-Value	Type
low complexity region	54	69	N/A	INTRINSIC
low complexity region	361	380	N/A	INTRINSIC
low complexity region	407	419	N/A	INTRINSIC
Pfam:Rap_GAP	634	822	6.7e-64	PFAM
PDZ	969	1035	1.39e-8	SMART
low complexity region	1053	1064	N/A	INTRINSIC
low complexity region	1190	1201	N/A	INTRINSIC
low complexity region	1260	1277	N/A	INTRINSIC
low complexity region	1283	1294	N/A	INTRINSIC
Pfam:DUF3401	1471	1721	7.2e-94	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit small lenses, microphthalmia, cataracts, posterior iris synechia, and abnormal lens fiber morphology. [provided by MGI curators]

Allele List at MGI

All alleles(486) : Gene trapped(486)

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,113,014 (GRCm39)		probably null	Het
Abcc8	T	G	7: 45,806,543 (GRCm39)	R388S	probably benign	Het
Abhd18	C	T	3: 40,889,361 (GRCm39)	R414*	probably null	Het
Acap1	C	T	11: 69,780,324 (GRCm39)	V40I	probably benign	Het
Actn1	C	A	12: 80,251,745 (GRCm39)	G111*	probably null	Het
Adam26b	T	C	8: 43,973,676 (GRCm39)	Q442R	probably benign	Het
Adamts19	T	C	18: 59,105,903 (GRCm39)		probably null	Het
Agtpbp1	T	G	13: 59,678,872 (GRCm39)	K145N	probably damaging	Het
AI661453	A	G	17: 47,777,959 (GRCm39)		probably benign	Het
Ap4e1	T	C	2: 126,903,467 (GRCm39)	S790P	probably benign	Het
Asmt	A	G	X: 169,109,524 (GRCm39)	E168G	possibly damaging	Het
Atp2a3	T	A	11: 72,866,240 (GRCm39)	S287T	probably damaging	Het
AY358078	T	A	14: 52,063,519 (GRCm39)	D388E	probably damaging	Het
Bicd1	A	T	6: 149,415,050 (GRCm39)	T588S	probably benign	Het
Birc6	T	G	17: 74,905,057 (GRCm39)	N1283K	probably benign	Het
Cacna1e	T	A	1: 154,353,563 (GRCm39)	Q423L	probably damaging	Het
Capn3	T	A	2: 120,326,418 (GRCm39)	Y537N	probably damaging	Het
Ccn3	T	A	15: 54,612,750 (GRCm39)	V253E	probably benign	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Chgb	T	C	2: 132,628,418 (GRCm39)	S48P	possibly damaging	Het
Cidec	T	A	6: 113,405,193 (GRCm39)	Y159F	probably damaging	Het
Clec18a	T	C	8: 111,808,234 (GRCm39)	S66G	possibly damaging	Het
Cpsf1	G	A	15: 76,487,360 (GRCm39)	T138M	probably benign	Het
Dclre1c	C	T	2: 3,439,022 (GRCm39)	R61W	probably damaging	Het
Eef1akmt1	A	C	14: 57,787,911 (GRCm39)	V149G	probably benign	Het
Fam131b	T	C	6: 42,297,818 (GRCm39)	T112A	possibly damaging	Het
Fbln2	A	G	6: 91,211,283 (GRCm39)	E409G	probably damaging	Het
Fkbp15	G	A	4: 62,222,618 (GRCm39)	P1094S	probably benign	Het
Fpr1	A	G	17: 18,097,879 (GRCm39)	S37P	probably benign	Het
Fryl	G	T	5: 73,265,836 (GRCm39)	T495K	probably damaging	Het
Gja6	A	T	X: 159,686,374 (GRCm39)	I186N	possibly damaging	Het
Gm4922	T	C	10: 18,659,388 (GRCm39)	T445A	probably benign	Het
Gria2	G	A	3: 80,709,664 (GRCm39)	L10F	probably benign	Het
Gspt2	A	G	X: 93,681,025 (GRCm39)	D388G	possibly damaging	Het
Hdc	T	A	2: 126,458,107 (GRCm39)	I72F	probably damaging	Het
Ift70b	A	G	2: 75,768,402 (GRCm39)	L117P	probably damaging	Het
Igf2r	T	C	17: 12,911,625 (GRCm39)	K1905E	probably benign	Het
Il33	A	G	19: 29,934,304 (GRCm39)	D155G	possibly damaging	Het
Klk1b9	C	T	7: 43,628,979 (GRCm39)	T161I	probably benign	Het
Mfsd12	C	A	10: 81,193,515 (GRCm39)	H28Q	probably damaging	Het
Mgat5	A	T	1: 127,387,696 (GRCm39)	I551F	possibly damaging	Het
Miga2	A	T	2: 30,272,000 (GRCm39)	D25V	probably damaging	Het
Mlc1	T	C	15: 88,858,782 (GRCm39)	N122S	possibly damaging	Het
Mmp20	T	A	9: 7,645,293 (GRCm39)	M281K	probably benign	Het
Muc5ac	C	A	7: 141,366,889 (GRCm39)	P2232T	possibly damaging	Het
N4bp2l2	A	G	5: 150,584,748 (GRCm39)	S411P	possibly damaging	Het
Ngef	G	A	1: 87,415,626 (GRCm39)	S346L	probably damaging	Het
Or10j27	C	T	1: 172,958,418 (GRCm39)	R122H	possibly damaging	Het
Or2t6	A	G	14: 14,175,854 (GRCm38)	I76T	probably benign	Het
Or4c112	T	A	2: 88,853,487 (GRCm39)	T287S	probably damaging	Het
Or4f15	T	A	2: 111,814,429 (GRCm39)	M5L	probably benign	Het
Or51aa2	T	C	7: 103,187,566 (GRCm39)	I292V	possibly damaging	Het
Or52m2	C	T	7: 102,263,747 (GRCm39)	V150M	probably damaging	Het
Or56b2	T	C	7: 104,337,690 (GRCm39)	I156T	probably benign	Het
Or6c215	T	C	10: 129,637,530 (GRCm39)	Y288C	probably damaging	Het
Or6c6	T	A	10: 129,186,561 (GRCm39)	I43N	probably damaging	Het
Pecam1	G	T	11: 106,586,763 (GRCm39)	H150N	possibly damaging	Het
Polr3c	A	T	3: 96,621,689 (GRCm39)		probably null	Het
Pop1	A	C	15: 34,530,617 (GRCm39)	Q1005P	probably damaging	Het
Prss22	G	A	17: 24,215,288 (GRCm39)	P163S	probably damaging	Het
Prss33	G	A	17: 24,053,172 (GRCm39)	A223V	probably damaging	Het
Prss53	C	T	7: 127,486,565 (GRCm39)	V354I	probably benign	Het
Rab3gap2	C	T	1: 184,968,221 (GRCm39)	T191I	probably damaging	Het
Rictor	T	C	15: 6,805,637 (GRCm39)	F608L	probably benign	Het
Ryr3	T	A	2: 112,484,837 (GRCm39)	E3884V	probably null	Het
Scaf11	G	A	15: 96,316,721 (GRCm39)	R948*	probably null	Het
Sec61g	A	T	11: 16,456,444 (GRCm39)	V40E	probably damaging	Het
Serpinb3d	A	T	1: 107,008,518 (GRCm39)	F116I	possibly damaging	Het
Slc13a3	T	C	2: 165,275,984 (GRCm39)	N254S	possibly damaging	Het
Slc35a2	T	A	X: 7,759,064 (GRCm39)	L110Q	probably damaging	Het
Spata31d1b	G	C	13: 59,864,194 (GRCm39)	L447F	probably benign	Het
Spsb2	T	C	6: 124,786,329 (GRCm39)		probably null	Het
Tent4b	C	T	8: 88,973,112 (GRCm39)	T277M	probably damaging	Het
Tmcc3	T	C	10: 94,414,468 (GRCm39)	S57P	possibly damaging	Het
Traf7	A	G	17: 24,729,476 (GRCm39)	V445A	probably damaging	Het
Trib1	A	G	15: 59,521,192 (GRCm39)	S61G	possibly damaging	Het
Trip12	A	T	1: 84,726,893 (GRCm39)	F36I	probably damaging	Het
Tshz3	T	C	7: 36,469,247 (GRCm39)	I412T	probably damaging	Het
Tsku	T	C	7: 98,001,353 (GRCm39)	Y326C	probably damaging	Het
Ttn	T	G	2: 76,712,038 (GRCm39)		probably benign	Het
Ugt1a6a	G	A	1: 88,066,470 (GRCm39)	R92H	probably benign	Het
Vmn1r63	A	G	7: 5,806,254 (GRCm39)	V126A	probably benign	Het
Vmn2r84	T	A	10: 130,221,878 (GRCm39)	S781C	probably damaging	Het
Wdr91	T	A	6: 34,869,297 (GRCm39)	H409L	probably damaging	Het
Wnt7a	T	A	6: 91,342,938 (GRCm39)	T315S	possibly damaging	Het
Zdhhc25	A	G	15: 88,485,027 (GRCm39)	T121A	probably benign	Het
Zfp109	T	C	7: 23,928,743 (GRCm39)	H222R	probably benign	Het
Zfp286	A	G	11: 62,670,646 (GRCm39)	S476P	probably damaging	Het
Zfp605	T	C	5: 110,275,418 (GRCm39)	Y179H	probably damaging	Het
Zfp955a	T	C	17: 33,460,620 (GRCm39)	H504R	probably damaging	Het
Zswim2	T	A	2: 83,746,007 (GRCm39)	N477I	possibly damaging	Het

Other mutations in Sipa1l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Sipa1l3	APN	7	29,053,558 (GRCm39)	missense	probably damaging	0.97
IGL00481:Sipa1l3	APN	7	29,085,533 (GRCm39)	missense	probably damaging	0.99
IGL01071:Sipa1l3	APN	7	29,023,645 (GRCm39)	missense	possibly damaging	0.88
IGL01300:Sipa1l3	APN	7	29,099,253 (GRCm39)	nonsense	probably null
IGL01361:Sipa1l3	APN	7	29,048,112 (GRCm39)	missense	probably damaging	1.00
IGL01380:Sipa1l3	APN	7	29,030,797 (GRCm39)	missense	possibly damaging	0.94
IGL02083:Sipa1l3	APN	7	29,086,686 (GRCm39)	missense	probably damaging	1.00
IGL02484:Sipa1l3	APN	7	29,098,956 (GRCm39)	missense	probably damaging	1.00
IGL02542:Sipa1l3	APN	7	29,087,490 (GRCm39)	missense	probably damaging	1.00
IGL02645:Sipa1l3	APN	7	29,028,405 (GRCm39)	splice site	probably null
IGL03410:Sipa1l3	APN	7	29,047,964 (GRCm39)	missense	probably damaging	1.00
P0014:Sipa1l3	UTSW	7	29,082,640 (GRCm39)	missense	probably damaging	1.00
R0111:Sipa1l3	UTSW	7	29,047,743 (GRCm39)	missense	probably damaging	0.99
R0309:Sipa1l3	UTSW	7	29,047,775 (GRCm39)	missense	probably benign	0.01
R0554:Sipa1l3	UTSW	7	29,087,455 (GRCm39)	missense	possibly damaging	0.90
R0624:Sipa1l3	UTSW	7	29,086,676 (GRCm39)	missense	probably damaging	1.00
R0894:Sipa1l3	UTSW	7	29,086,716 (GRCm39)	nonsense	probably null
R1468:Sipa1l3	UTSW	7	29,021,685 (GRCm39)	missense	possibly damaging	0.87
R1468:Sipa1l3	UTSW	7	29,021,685 (GRCm39)	missense	possibly damaging	0.87
R1550:Sipa1l3	UTSW	7	29,082,628 (GRCm39)	missense	probably benign	0.00
R1850:Sipa1l3	UTSW	7	29,038,551 (GRCm39)	missense	probably damaging	0.96
R1905:Sipa1l3	UTSW	7	29,038,592 (GRCm39)	missense	possibly damaging	0.89
R1907:Sipa1l3	UTSW	7	29,038,592 (GRCm39)	missense	possibly damaging	0.89
R2228:Sipa1l3	UTSW	7	29,077,364 (GRCm39)	nonsense	probably null
R2267:Sipa1l3	UTSW	7	29,099,027 (GRCm39)	missense	probably damaging	1.00
R2341:Sipa1l3	UTSW	7	29,077,060 (GRCm39)	missense	probably damaging	0.98
R3914:Sipa1l3	UTSW	7	29,099,510 (GRCm39)	missense	probably benign	0.28
R4197:Sipa1l3	UTSW	7	29,100,238 (GRCm39)	missense	possibly damaging	0.81
R4559:Sipa1l3	UTSW	7	29,031,678 (GRCm39)	missense	probably damaging	1.00
R4569:Sipa1l3	UTSW	7	29,025,287 (GRCm39)	missense	probably damaging	1.00
R4783:Sipa1l3	UTSW	7	29,077,066 (GRCm39)	missense	probably damaging	1.00
R4784:Sipa1l3	UTSW	7	29,077,066 (GRCm39)	missense	probably damaging	1.00
R4785:Sipa1l3	UTSW	7	29,077,066 (GRCm39)	missense	probably damaging	1.00
R4823:Sipa1l3	UTSW	7	29,070,427 (GRCm39)	missense	probably damaging	1.00
R5057:Sipa1l3	UTSW	7	29,070,618 (GRCm39)	missense	probably damaging	1.00
R5084:Sipa1l3	UTSW	7	29,048,000 (GRCm39)	missense	probably damaging	1.00
R5085:Sipa1l3	UTSW	7	29,048,000 (GRCm39)	missense	probably damaging	1.00
R5086:Sipa1l3	UTSW	7	29,048,000 (GRCm39)	missense	probably damaging	1.00
R5918:Sipa1l3	UTSW	7	29,096,631 (GRCm39)	missense	probably damaging	1.00
R5973:Sipa1l3	UTSW	7	29,098,949 (GRCm39)	missense	probably benign	0.20
R6291:Sipa1l3	UTSW	7	29,087,558 (GRCm39)	missense	probably damaging	1.00
R6299:Sipa1l3	UTSW	7	29,065,974 (GRCm39)	critical splice donor site	probably null
R6828:Sipa1l3	UTSW	7	29,038,457 (GRCm39)	missense	probably benign	0.17
R6914:Sipa1l3	UTSW	7	29,085,516 (GRCm39)	missense	probably damaging	1.00
R6942:Sipa1l3	UTSW	7	29,085,516 (GRCm39)	missense	probably damaging	1.00
R7102:Sipa1l3	UTSW	7	29,048,012 (GRCm39)	missense	possibly damaging	0.74
R7225:Sipa1l3	UTSW	7	29,098,853 (GRCm39)	missense	probably damaging	1.00
R7310:Sipa1l3	UTSW	7	29,099,121 (GRCm39)	missense	probably benign
R7429:Sipa1l3	UTSW	7	29,086,631 (GRCm39)	missense	probably benign	0.24
R7489:Sipa1l3	UTSW	7	29,066,127 (GRCm39)	missense	probably damaging	1.00
R7789:Sipa1l3	UTSW	7	29,077,150 (GRCm39)	missense	probably damaging	1.00
R7923:Sipa1l3	UTSW	7	29,038,571 (GRCm39)	nonsense	probably null
R8041:Sipa1l3	UTSW	7	29,063,645 (GRCm39)	missense	probably damaging	1.00
R8245:Sipa1l3	UTSW	7	29,099,789 (GRCm39)	missense	probably damaging	1.00
R9125:Sipa1l3	UTSW	7	29,086,656 (GRCm39)	missense	probably damaging	0.98
R9313:Sipa1l3	UTSW	7	29,077,439 (GRCm39)	missense	probably benign	0.38
R9469:Sipa1l3	UTSW	7	29,028,481 (GRCm39)	missense	possibly damaging	0.62
R9596:Sipa1l3	UTSW	7	29,031,691 (GRCm39)	missense	probably benign	0.24
Z1177:Sipa1l3	UTSW	7	29,099,859 (GRCm39)	missense	probably benign	0.06
Z1186:Sipa1l3	UTSW	7	29,031,636 (GRCm39)	critical splice donor site	probably benign
Z1186:Sipa1l3	UTSW	7	29,031,372 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CGAGATGCTGGCATTTGTAC -3'
(R):5'- CCATTTTGATGTGCAGAGCATG -3'

Sequencing Primer
(F):5'- CATTTGTACGGTGGGTGCTCAG -3'
(R):5'- AGAGCATGCTGTTTGACCTCAAC -3'

Posted On

2014-08-25