Mutagenetix > Incidental Mutation

Incidental Mutation 'R7310:Sipa1l3'

567499

Institutional Source

Beutler Lab

Gene Symbol

Sipa1l3

Ensembl Gene

ENSMUSG00000030583

Gene Name

signal-induced proliferation-associated 1 like 3

Synonyms

2610511M17Rik

MMRRC Submission

045409-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29019797-29218066 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 29099121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 383 (H383N)

Ref Sequence

ENSEMBL: ENSMUSP00000082965 (fasta)

Gene Model

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

AlphaFold

G3X9J0

Predicted Effect

probably benign
Transcript: ENSMUST00000085809
AA Change: H383N

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

SMART Domains

Protein: ENSMUSP00000082965
Gene: ENSMUSG00000030583
AA Change: H383N

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

probably benign
Transcript: ENSMUST00000183096
AA Change: H383N

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

SMART Domains

Protein: ENSMUSP00000138171
Gene: ENSMUSG00000030583
AA Change: H383N

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,771,094 (GRCm39)	Q192L	possibly damaging	Het
Abat	G	A	16: 8,423,457 (GRCm39)	R250Q	probably null	Het
Abcg3	A	C	5: 105,114,632 (GRCm39)	F295C	probably benign	Het
Abl1	T	C	2: 31,690,604 (GRCm39)	S708P	possibly damaging	Het
Acap2	A	T	16: 30,926,972 (GRCm39)	Y489*	probably null	Het
Akr1c6	A	T	13: 4,486,354 (GRCm39)	M54L	probably benign	Het
Arhgap5	A	T	12: 52,589,270 (GRCm39)		probably null	Het
Asap1	A	G	15: 63,971,379 (GRCm39)		probably null	Het
Atrnl1	A	T	19: 57,630,856 (GRCm39)	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,795,485 (GRCm39)		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,795,460 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,451 (GRCm39)		probably benign	Het
Bmi1	T	C	2: 18,689,230 (GRCm39)	S305P	probably benign	Het
Bpifc	T	A	10: 85,798,891 (GRCm39)	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,993 (GRCm39)	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,519,914 (GRCm39)	D428V	probably damaging	Het
Card14	A	C	11: 119,217,005 (GRCm39)	Q363P	probably null	Het
Cdca2	A	T	14: 67,950,673 (GRCm39)	L86H	probably damaging	Het
Cdh22	G	T	2: 164,954,214 (GRCm39)	S769*	probably null	Het
Cdhr17	A	G	5: 17,075,246 (GRCm39)	Y872C	possibly damaging	Het
Cep164	T	C	9: 45,686,664 (GRCm39)	E690G	probably damaging	Het
Cluh	A	G	11: 74,560,285 (GRCm39)	H1304R	probably benign	Het
Daxx	C	A	17: 34,129,435 (GRCm39)	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,636,127 (GRCm39)	M1117V	possibly damaging	Het
Entpd3	T	A	9: 120,389,821 (GRCm39)		probably null	Het
Esr1	G	A	10: 4,889,259 (GRCm39)	A386T	probably damaging	Het
Etv5	G	A	16: 22,220,487 (GRCm39)	P300L	probably benign	Het
Exoc3l	A	T	8: 106,020,340 (GRCm39)	L195Q	probably damaging	Het
Exog	T	C	9: 119,274,069 (GRCm39)	L18P	unknown	Het
Fgfr1	T	A	8: 26,052,331 (GRCm39)	V219D	probably benign	Het
Gna14	A	T	19: 16,511,113 (GRCm39)	Q54L		Het
Gnb5	T	C	9: 75,221,570 (GRCm39)	L48P	probably benign	Het
Gpbp1	A	G	13: 111,589,924 (GRCm39)	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,149,884 (GRCm39)	D48E	probably damaging	Het
Hrc	T	A	7: 44,985,227 (GRCm39)	L126*	probably null	Het
Hspa8	T	G	9: 40,714,704 (GRCm39)	D333E	probably benign	Het
Igsf3	T	A	3: 101,338,895 (GRCm39)	V403D	probably benign	Het
Itga10	C	A	3: 96,555,475 (GRCm39)	A143D	probably damaging	Het
Kdr	T	A	5: 76,104,985 (GRCm39)	I1082F	probably damaging	Het
Klk1b11	A	T	7: 43,428,254 (GRCm39)	I242F	probably damaging	Het
Kng2	G	A	16: 22,806,522 (GRCm39)	T559I	probably benign	Het
Map1b	G	A	13: 99,570,163 (GRCm39)	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880 (GRCm39)	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,439,615 (GRCm39)	T358S	probably damaging	Het
Msantd5l	A	C	11: 51,145,474 (GRCm39)	W38G	probably damaging	Het
Mttp	T	C	3: 137,800,783 (GRCm39)	D759G	probably damaging	Het
Mup17	T	A	4: 61,511,929 (GRCm39)	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,541,697 (GRCm39)	A79S	probably damaging	Het
Myo9a	T	A	9: 59,778,436 (GRCm39)	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,469 (GRCm39)		probably null	Het
Ncf1	A	T	5: 134,250,615 (GRCm39)	S402T	probably benign	Het
Ndufb10	T	C	17: 24,941,188 (GRCm39)	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,721,409 (GRCm39)	T163M	possibly damaging	Het
Nol4	A	T	18: 22,903,801 (GRCm39)	H172Q		Het
Nup205	T	A	6: 35,202,904 (GRCm39)	D1370E	possibly damaging	Het
Or1e32	A	C	11: 73,705,112 (GRCm39)	N265K	probably damaging	Het
Or51ab3	T	A	7: 103,201,892 (GRCm39)	I300N	probably damaging	Het
Or5b97	A	G	19: 12,878,637 (GRCm39)	F169S	probably damaging	Het
Pkd1l2	A	G	8: 117,750,773 (GRCm39)	V1746A	probably benign	Het
Plin2	T	A	4: 86,586,628 (GRCm39)	I68F	probably benign	Het
Proc	A	T	18: 32,268,952 (GRCm39)	M11K	probably benign	Het
Rif1	T	C	2: 51,995,631 (GRCm39)	V950A	probably benign	Het
Rmc1	A	G	18: 12,317,972 (GRCm39)	K362E	probably benign	Het
Rnf208	C	A	2: 25,133,587 (GRCm39)	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,571,011 (GRCm39)	Y269*	probably null	Het
Senp7	T	C	16: 56,006,445 (GRCm39)	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,419,269 (GRCm39)	V649A	probably damaging	Het
Slc12a5	G	A	2: 164,834,360 (GRCm39)	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,616,482 (GRCm39)	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,188,103 (GRCm39)	I199L	probably damaging	Het
Styxl2	G	A	1: 165,926,300 (GRCm39)	T1104I	possibly damaging	Het
Tle4	A	T	19: 14,495,155 (GRCm39)	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,081,651 (GRCm39)	S271*	probably null	Het
Tnks2	G	A	19: 36,856,839 (GRCm39)	V855I	probably benign	Het
Trank1	T	C	9: 111,196,194 (GRCm39)	L1406S	probably damaging	Het
Trhde	T	C	10: 114,636,478 (GRCm39)	E243G	probably damaging	Het
Trim25	A	T	11: 88,906,608 (GRCm39)	N448I	probably benign	Het
Trim31	T	A	17: 37,218,194 (GRCm39)	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,214,138 (GRCm39)	V502E	possibly damaging	Het
Usp10	A	C	8: 120,668,344 (GRCm39)	D215A	possibly damaging	Het
Usp33	T	G	3: 152,066,026 (GRCm39)	L102*	probably null	Het
Wdr12	A	T	1: 60,121,734 (GRCm39)	C272*	probably null	Het
Xndc1	A	C	7: 101,727,938 (GRCm39)		probably null	Het
Zkscan2	T	C	7: 123,089,276 (GRCm39)	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,841,885 (GRCm39)	T822S	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
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
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'- AGAAGCTGACATTGCGCTC -3'
(R):5'- ACTGTAGACTCATCCATCTTCAGG -3'

Sequencing Primer
(F):5'- CTCGCTCCCCGCCGATC -3'
(R):5'- CTGAGGAAAGTCGAAGCCCC -3'

Posted On

2019-06-26