Mutagenetix > Incidental Mutation

Incidental Mutation 'R4823:Sipa1l3'

371292

Institutional Source

Beutler Lab

Gene Symbol

Sipa1l3

Ensembl Gene

ENSMUSG00000030583

Gene Name

signal-induced proliferation-associated 1 like 3

Synonyms

2610511M17Rik

MMRRC Submission

042439-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

R4823 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29019797-29218066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29070427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1030 (V1030I)

Ref Sequence

ENSEMBL: ENSMUSP00000138171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085809] [ENSMUST00000182484] [ENSMUST00000183096] [ENSMUST00000183275]

AlphaFold

G3X9J0

Predicted Effect

probably damaging
Transcript: ENSMUST00000085809
AA Change: V1030I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000082965
Gene: ENSMUSG00000030583
AA Change: V1030I

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: ENSMUST00000182484

SMART Domains

Protein: ENSMUSP00000138714
Gene: ENSMUSG00000030583

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
low complexity region	141	152	N/A	INTRINSIC
low complexity region	211	228	N/A	INTRINSIC
low complexity region	234	245	N/A	INTRINSIC
Pfam:DUF3401	422	671	2.7e-94	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182911

Predicted Effect

probably damaging
Transcript: ENSMUST00000183096
AA Change: V1030I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138171
Gene: ENSMUSG00000030583
AA Change: V1030I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183275

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183330
AA Change: V116I

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.0959

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (96/98)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	A	5: 88,120,457 (GRCm39)	D405N	probably benign	Het
4921517D22Rik	T	G	13: 59,838,718 (GRCm39)	E38A	probably damaging	Het
4930433I11Rik	A	T	7: 40,642,786 (GRCm39)	I152F	probably benign	Het
Aass	A	T	6: 23,107,690 (GRCm39)	D364E	probably benign	Het
Adamts2	A	G	11: 50,628,014 (GRCm39)	D238G	probably benign	Het
Albfm1	T	A	5: 90,714,362 (GRCm39)	L124H	probably benign	Het
Aoc1l1	A	G	6: 48,952,195 (GRCm39)	D40G	probably damaging	Het
Aplf	G	A	6: 87,623,237 (GRCm39)	L302F	probably damaging	Het
Apol7b	G	T	15: 77,311,982 (GRCm39)		probably benign	Het
Arhgef12	A	G	9: 42,931,992 (GRCm39)	V165A	probably benign	Het
Ascc3	T	C	10: 50,589,329 (GRCm39)	S1017P	probably damaging	Het
B230104I21Rik	T	A	4: 154,434,204 (GRCm39)		probably benign	Het
Bfsp2	C	A	9: 103,357,082 (GRCm39)	C115F	probably damaging	Het
Bhmt2	A	T	13: 93,799,798 (GRCm39)	W213R	probably benign	Het
Capn5	A	T	7: 97,775,648 (GRCm39)	V431E	probably damaging	Het
Ccdc88c	A	G	12: 100,896,802 (GRCm39)	Y1390H	probably damaging	Het
Ccr3	A	G	9: 123,828,718 (GRCm39)	T18A	probably damaging	Het
Cdh5	T	C	8: 104,869,301 (GRCm39)	S676P	probably benign	Het
Ceacam5	A	G	7: 17,491,669 (GRCm39)	T680A	possibly damaging	Het
Cebpd	G	A	16: 15,705,978 (GRCm39)	G264S	probably benign	Het
Cfd	T	C	10: 79,726,782 (GRCm39)	V8A	probably benign	Het
Cops9	C	T	1: 92,569,588 (GRCm39)		probably benign	Het
Cpne6	T	C	14: 55,754,467 (GRCm39)	Y533H	probably damaging	Het
Cyp2c67	T	A	19: 39,604,168 (GRCm39)	H396L	probably benign	Het
Cyp2j9	G	A	4: 96,456,972 (GRCm39)	P500S	possibly damaging	Het
Cyp4a12a	A	T	4: 115,184,610 (GRCm39)		probably null	Het
Dbt	G	A	3: 116,317,036 (GRCm39)	D71N	probably damaging	Het
Ddx41	G	T	13: 55,679,868 (GRCm39)	Q440K	probably benign	Het
Elovl4	A	G	9: 83,662,738 (GRCm39)	F174S	probably damaging	Het
Emcn	C	G	3: 137,129,187 (GRCm39)	P193R	probably damaging	Het
Etnk1	T	C	6: 143,113,364 (GRCm39)		probably null	Het
Fads3	A	C	19: 10,019,252 (GRCm39)	S53R	probably damaging	Het
Fam193a	A	G	5: 34,616,372 (GRCm39)	E849G	probably damaging	Het
Fat3	A	G	9: 15,907,803 (GRCm39)	V2733A	probably benign	Het
Frem3	T	A	8: 81,340,587 (GRCm39)	M960K	probably benign	Het
Frmd6	A	T	12: 70,919,349 (GRCm39)	I62L	probably benign	Het
Glmp	T	C	3: 88,232,530 (GRCm39)		probably benign	Het
Gm17421	T	C	12: 113,333,161 (GRCm39)		noncoding transcript	Het
Gm27013	T	A	6: 130,499,186 (GRCm39)		noncoding transcript	Het
Gtf2ird1	A	G	5: 134,424,576 (GRCm39)	V390A	probably damaging	Het
Hps3	A	G	3: 20,066,890 (GRCm39)	Y559H	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Itpr3	A	G	17: 27,304,121 (GRCm39)	D114G	probably benign	Het
Jmjd4	G	A	11: 59,346,406 (GRCm39)	A408T	probably benign	Het
Kcnh4	G	T	11: 100,646,000 (GRCm39)	A316D	probably damaging	Het
Klrg1	T	A	6: 122,250,492 (GRCm39)		probably null	Het
Lancl2	T	A	6: 57,709,262 (GRCm39)	Y355N	probably damaging	Het
Ltb	T	C	17: 35,414,206 (GRCm39)	S115P	probably benign	Het
Mccc2	T	G	13: 100,136,762 (GRCm39)	R64S	probably benign	Het
Mgam2-ps	T	A	6: 40,809,596 (GRCm39)		noncoding transcript	Het
Mrrf	T	G	2: 36,038,042 (GRCm39)	N104K	possibly damaging	Het
Nipa1	C	A	7: 55,629,436 (GRCm39)	V226L	possibly damaging	Het
Numa1	T	A	7: 101,645,244 (GRCm39)	L290Q	probably damaging	Het
Ofcc1	T	A	13: 40,433,949 (GRCm39)	H52L	probably damaging	Het
Ogfod3	G	A	11: 121,086,027 (GRCm39)	A189V	probably benign	Het
Or14c39	T	A	7: 86,343,796 (GRCm39)	I44N	probably damaging	Het
Or5b21	A	T	19: 12,839,180 (GRCm39)	I14F	probably benign	Het
Or5d46	A	G	2: 88,170,179 (GRCm39)	D90G	probably damaging	Het
Or9i1b	G	A	19: 13,897,022 (GRCm39)	V213I	probably benign	Het
P2ry12	G	A	3: 59,125,318 (GRCm39)	S119L	probably benign	Het
Pde7b	T	A	10: 20,314,531 (GRCm39)	N192Y	probably damaging	Het
Pfkl	T	C	10: 77,833,428 (GRCm39)	N258S	probably damaging	Het
Phykpl	G	A	11: 51,477,420 (GRCm39)	A71T	probably damaging	Het
Ppp1r16a	T	C	15: 76,577,393 (GRCm39)		probably benign	Het
Pramel15	T	C	4: 144,099,781 (GRCm39)	N328S	possibly damaging	Het
Pramel32	T	C	4: 88,547,452 (GRCm39)	K160R	probably damaging	Het
Prune2	C	T	19: 17,097,868 (GRCm39)	T1124M	probably damaging	Het
Rapgef6	A	G	11: 54,585,326 (GRCm39)	I1570V	probably benign	Het
Rbm34	T	C	8: 127,697,655 (GRCm39)	S19G	probably benign	Het
Rnf10	T	C	5: 115,393,501 (GRCm39)		probably null	Het
Rnf34	A	G	5: 122,988,365 (GRCm39)		probably null	Het
Setd4	A	G	16: 93,386,838 (GRCm39)	S287P	probably benign	Het
Shc3	C	T	13: 51,605,606 (GRCm39)	V225I	probably benign	Het
Siva1	G	T	12: 112,611,498 (GRCm39)	R33L	probably damaging	Het
Slc4a5	C	T	6: 83,249,115 (GRCm39)	T573I	probably damaging	Het
Sorcs1	C	T	19: 50,666,578 (GRCm39)	R110Q	possibly damaging	Het
Sorcs1	T	C	19: 50,218,740 (GRCm39)	I581V	possibly damaging	Het
Sorl1	T	C	9: 41,903,617 (GRCm39)	D1545G	probably damaging	Het
Tas2r124	T	G	6: 132,732,509 (GRCm39)	S273A	probably damaging	Het
Tcf15	T	C	2: 151,985,813 (GRCm39)	F90L	probably damaging	Het
Trim59	G	A	3: 68,944,453 (GRCm39)	R296C	probably benign	Het
Tulp1	A	T	17: 28,572,546 (GRCm39)	D229E	probably benign	Het
Ush1c	T	A	7: 45,845,157 (GRCm39)	N886I	probably benign	Het
Usp9y	A	T	Y: 1,444,559 (GRCm39)	S127T	probably damaging	Het
Vmn1r19	T	A	6: 57,382,219 (GRCm39)	Y257*	probably null	Het
Vmn2r109	A	T	17: 20,774,153 (GRCm39)	Y401N	probably damaging	Het
Vmn2r69	A	C	7: 85,060,508 (GRCm39)	S359A	probably benign	Het
Zfp37	A	T	4: 62,109,740 (GRCm39)	N479K	probably benign	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
R1994:Sipa1l3	UTSW	7	29,099,036 (GRCm39)	missense	probably benign	0.39
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
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'- CCTCTGAAACAGGGCTTATCAAA -3'
(R):5'- AGCTGGGCTTCCACGTGA -3'

Sequencing Primer
(F):5'- ACTTTATATGCCTCAGGACAGGG -3'
(R):5'- TGAAGTACGATGGCACGGTG -3'

Posted On

2016-03-01