Mutagenetix > Incidental Mutation

Incidental Mutation 'R1907:Sipa1l3'

214465

Institutional Source

Beutler Lab

Gene Symbol

Sipa1l3

Ensembl Gene

ENSMUSG00000030583

Gene Name

signal-induced proliferation-associated 1 like 3

Synonyms

2610511M17Rik

MMRRC Submission

039926-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.551) question?

Stock #

R1907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29019797-29218066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29038592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 352 (S352P)

Ref Sequence

ENSEMBL: ENSMUSP00000138714 (fasta)

Gene Model

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

AlphaFold

G3X9J0

Predicted Effect

probably benign
Transcript: ENSMUST00000085809
AA Change: S1401P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000082965
Gene: ENSMUSG00000030583
AA Change: S1401P

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

noncoding transcript
Transcript: ENSMUST00000182009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182223

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182484
AA Change: S352P

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138714
Gene: ENSMUSG00000030583
AA Change: S352P

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: ENSMUST00000182829

Predicted Effect

probably benign
Transcript: ENSMUST00000183096
AA Change: S1401P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138171
Gene: ENSMUSG00000030583
AA Change: S1401P

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

noncoding transcript
Transcript: ENSMUST00000183164

Predicted Effect

unknown
Transcript: ENSMUST00000183330
AA Change: S441P

Meta Mutation Damage Score

0.0892

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

98% (104/106)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	A	3: 121,862,661 (GRCm39)	S206R	probably damaging	Het
Abcc6	G	T	7: 45,663,593 (GRCm39)	A357E	probably benign	Het
Abhd13	T	A	8: 10,038,170 (GRCm39)	C256S	probably benign	Het
Actrt3	A	G	3: 30,652,716 (GRCm39)	V126A	probably damaging	Het
Adgrv1	A	G	13: 81,740,670 (GRCm39)		probably benign	Het
Alyref2	A	G	1: 171,331,838 (GRCm39)	D205G	probably damaging	Het
Amigo3	G	A	9: 107,930,835 (GRCm39)	R86Q	probably benign	Het
Ankrd50	G	C	3: 38,508,201 (GRCm39)	P1389A	probably damaging	Het
Aoah	A	G	13: 21,094,264 (GRCm39)	D183G	probably damaging	Het
Arap3	A	T	18: 38,129,724 (GRCm39)	S146T	probably benign	Het
Atp2c2	T	C	8: 120,476,615 (GRCm39)		probably benign	Het
Atp8b2	C	T	3: 89,853,583 (GRCm39)	V682M	probably benign	Het
Cacna1i	T	C	15: 80,259,465 (GRCm39)	I1245T	probably damaging	Het
Card14	A	G	11: 119,222,085 (GRCm39)	N460S	probably benign	Het
Ceacam5	A	G	7: 17,486,309 (GRCm39)	D602G	possibly damaging	Het
Cecr2	T	A	6: 120,738,121 (GRCm39)	H921Q	probably benign	Het
Cyb5d1	T	C	11: 69,285,566 (GRCm39)	D115G	probably benign	Het
Dbp	C	T	7: 45,357,744 (GRCm39)	T67I	possibly damaging	Het
Dennd5b	C	T	6: 148,943,074 (GRCm39)	V601I	probably benign	Het
Dnah11	G	A	12: 118,091,291 (GRCm39)	A947V	possibly damaging	Het
Dpysl3	T	A	18: 43,571,193 (GRCm39)	D27V	probably damaging	Het
Drd1	A	T	13: 54,207,271 (GRCm39)	D307E	possibly damaging	Het
Dscaml1	G	A	9: 45,651,778 (GRCm39)	G277D	probably damaging	Het
Eif4g3	C	T	4: 137,885,726 (GRCm39)	R842W	probably damaging	Het
Enam	C	T	5: 88,652,481 (GRCm39)	T1330I	possibly damaging	Het
Fabp6	T	C	11: 43,486,994 (GRCm39)		probably null	Het
Fcsk	A	T	8: 111,620,010 (GRCm39)	L289*	probably null	Het
Fhip1a	T	C	3: 85,579,940 (GRCm39)	D755G	probably benign	Het
Fsip2	C	T	2: 82,813,772 (GRCm39)	P3364S	possibly damaging	Het
Gad1	C	T	2: 70,409,482 (GRCm39)	S191F	possibly damaging	Het
Gcm1	A	C	9: 77,972,055 (GRCm39)	N332T	probably benign	Het
Gin1	G	A	1: 97,703,172 (GRCm39)		probably benign	Het
Gpr25	T	C	1: 136,188,538 (GRCm39)	D25G	probably benign	Het
Gstm4	T	C	3: 107,948,593 (GRCm39)	T172A	probably benign	Het
Hnrnpll	A	G	17: 80,342,758 (GRCm39)		probably null	Het
Il12rb2	T	A	6: 67,272,270 (GRCm39)	K339*	probably null	Het
Inpp1	A	G	1: 52,828,829 (GRCm39)	*397Q	probably null	Het
Kcp	G	T	6: 29,497,834 (GRCm39)		probably benign	Het
Kdm1b	G	A	13: 47,217,596 (GRCm39)	V352I	probably benign	Het
Klhdc2	G	T	12: 69,343,734 (GRCm39)		probably benign	Het
Krt75	T	A	15: 101,481,801 (GRCm39)	T156S	possibly damaging	Het
Lag3	T	A	6: 124,886,450 (GRCm39)	I168F	possibly damaging	Het
Lama4	T	G	10: 38,948,754 (GRCm39)	V839G	probably benign	Het
Lmtk2	G	T	5: 144,111,928 (GRCm39)	V883L	probably benign	Het
Lrrc37a	C	A	11: 103,347,982 (GRCm39)	K2904N	unknown	Het
Macf1	A	T	4: 123,266,192 (GRCm39)	I4775N	probably damaging	Het
Map2k3	T	G	11: 60,823,055 (GRCm39)	S3A	possibly damaging	Het
Mast1	G	A	8: 85,642,895 (GRCm39)	R967C	probably damaging	Het
Mettl2	T	G	11: 105,017,666 (GRCm39)	S59A	probably benign	Het
Mtr	G	A	13: 12,240,418 (GRCm39)	T530I	probably damaging	Het
Myo7b	A	T	18: 32,110,052 (GRCm39)	C1137S	possibly damaging	Het
Nacad	T	A	11: 6,552,540 (GRCm39)	H217L	probably benign	Het
Ncstn	A	T	1: 171,899,710 (GRCm39)	V324E	probably damaging	Het
Ndufaf7	C	A	17: 79,249,546 (GRCm39)	H148N	possibly damaging	Het
Or10a49	T	A	7: 108,467,705 (GRCm39)	I219F	possibly damaging	Het
Or52a24	T	A	7: 103,381,190 (GRCm39)	I19N	probably damaging	Het
Or52n2b	G	A	7: 104,566,272 (GRCm39)	T77I	probably damaging	Het
Or7g12	T	C	9: 18,899,737 (GRCm39)	I151T	possibly damaging	Het
Or8b12	T	G	9: 37,657,729 (GRCm39)	L100V	probably benign	Het
Or8k17	T	C	2: 86,066,454 (GRCm39)	K242E	possibly damaging	Het
Pcdh20	T	C	14: 88,706,140 (GRCm39)	I387V	probably benign	Het
Pclo	A	G	5: 14,728,525 (GRCm39)		probably benign	Het
Pcp2	G	A	8: 3,674,904 (GRCm39)		probably benign	Het
Pde1a	T	A	2: 79,698,651 (GRCm39)	D393V	probably damaging	Het
Pias4	T	C	10: 80,990,197 (GRCm39)	D421G	possibly damaging	Het
Pign	T	C	1: 105,565,940 (GRCm39)	T362A	possibly damaging	Het
Pik3c2g	A	C	6: 139,789,768 (GRCm39)	K304Q	probably damaging	Het
Pkd2	T	A	5: 104,634,672 (GRCm39)	W568R	probably damaging	Het
Pld2	T	A	11: 70,435,010 (GRCm39)	I306N	probably damaging	Het
Plppr3	T	C	10: 79,709,903 (GRCm39)	K9R	probably damaging	Het
Pramel11	T	A	4: 143,622,061 (GRCm39)	R431S	possibly damaging	Het
Psme4	T	C	11: 30,760,922 (GRCm39)	V397A	probably damaging	Het
Ptbp2	A	T	3: 119,555,398 (GRCm39)	S23R	probably damaging	Het
Ptpn13	A	G	5: 103,728,575 (GRCm39)	D2074G	probably null	Het
Rab34	T	A	11: 78,082,081 (GRCm39)	L166H	probably damaging	Het
Rabgap1l	T	A	1: 160,472,880 (GRCm39)	R519S	probably benign	Het
Rasa1	A	T	13: 85,374,691 (GRCm39)	L218*	probably null	Het
Reln	A	G	5: 22,249,960 (GRCm39)		probably null	Het
Rer1	T	C	4: 155,162,956 (GRCm39)	D94G	possibly damaging	Het
Rhpn1	T	C	15: 75,583,673 (GRCm39)	V386A	probably benign	Het
Samd3	T	A	10: 26,147,754 (GRCm39)	C476*	probably null	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc27a2	A	G	2: 126,428,262 (GRCm39)	Y549C	probably benign	Het
Slc7a9	A	G	7: 35,149,279 (GRCm39)	T7A	probably benign	Het
Slco4c1	C	T	1: 96,770,224 (GRCm39)	G280D	probably damaging	Het
Snx19	T	A	9: 30,344,872 (GRCm39)	V657E	probably damaging	Het
Spata31d1c	A	G	13: 65,183,690 (GRCm39)	M411V	probably benign	Het
Spice1	T	A	16: 44,178,193 (GRCm39)	L72*	probably null	Het
Stard9	G	T	2: 120,544,293 (GRCm39)	V4471L	probably damaging	Het
Syt14	A	G	1: 192,584,143 (GRCm39)	L707P	probably damaging	Het
Tab1	T	C	15: 80,037,869 (GRCm39)	I234T	probably damaging	Het
Tas2r107	T	C	6: 131,636,951 (GRCm39)	M33V	probably benign	Het
Tbx4	T	A	11: 85,805,349 (GRCm39)	S479R	possibly damaging	Het
Tssk5	C	T	15: 76,257,093 (GRCm39)	R263Q	probably benign	Het
Ttn	T	C	2: 76,701,200 (GRCm39)		probably benign	Het
Ugt2b5	T	A	5: 87,287,489 (GRCm39)	Q226L	probably benign	Het
Ush2a	C	T	1: 188,447,261 (GRCm39)	S2483L	probably benign	Het
Wdr95	A	G	5: 149,475,891 (GRCm39)	Y63C	probably damaging	Het
Xirp2	A	G	2: 67,346,700 (GRCm39)	I2980M	probably damaging	Het
Yeats4	G	A	10: 117,051,636 (GRCm39)	T207I	probably benign	Het
Ythdc1	A	G	5: 86,978,489 (GRCm39)	R561G	probably damaging	Het
Zbtb14	G	A	17: 69,694,385 (GRCm39)	E28K	possibly damaging	Het
Zfp931	A	T	2: 177,711,684 (GRCm39)	L21Q	probably damaging	Het
Zyg11b	A	C	4: 108,112,423 (GRCm39)	M415R	probably 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
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
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'- CTTTCCCTGTCCCAGAGATG -3'
(R):5'- GCCAAGTCCACAGAACTGTC -3'

Sequencing Primer
(F):5'- CACTTACTTCTTGCTGTCAGTGAAGG -3'
(R):5'- GAACTGTCTACCTCCACACGGG -3'

Posted On

2014-07-14