Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02370:Sipa1l2'

290903

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sipa1l2

Ensembl Gene

ENSMUSG00000001995

Gene Name

signal-induced proliferation-associated 1 like 2

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

IGL02370

Quality Score

Status

Chromosome

Chromosomal Location

126144802-126296547 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126207008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 565 (L565P)

Ref Sequence

ENSEMBL: ENSMUSP00000148536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108775] [ENSMUST00000212168] [ENSMUST00000212987]

AlphaFold

Q80TE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000108775
AA Change: L565P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: L565P

Domain	Start	End	E-Value	Type
low complexity region	53	64	N/A	INTRINSIC
low complexity region	163	172	N/A	INTRINSIC
low complexity region	261	272	N/A	INTRINSIC
low complexity region	427	449	N/A	INTRINSIC
Pfam:Rap_GAP	625	807	2.6e-67	PFAM
PDZ	960	1026	6.47e-9	SMART
low complexity region	1091	1103	N/A	INTRINSIC
low complexity region	1120	1138	N/A	INTRINSIC
low complexity region	1220	1238	N/A	INTRINSIC
low complexity region	1299	1312	N/A	INTRINSIC
low complexity region	1321	1329	N/A	INTRINSIC
low complexity region	1334	1355	N/A	INTRINSIC
low complexity region	1404	1418	N/A	INTRINSIC
Pfam:SPAR_C	1421	1666	2.5e-76	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000212168
AA Change: L565P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212987
AA Change: L565P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732471J01Rik	T	C	7: 25,084,313 (GRCm39)		probably benign	Het
Abra	T	C	15: 41,732,640 (GRCm39)	D142G	probably damaging	Het
Aldh9a1	A	G	1: 167,184,101 (GRCm39)	N199D	probably damaging	Het
Baz2b	A	T	2: 59,753,933 (GRCm39)	I1130N	possibly damaging	Het
Cacna1s	A	G	1: 136,013,085 (GRCm39)	I312V	probably damaging	Het
Chrd	A	G	16: 20,554,541 (GRCm39)	M367V	possibly damaging	Het
Clec12a	C	T	6: 129,331,539 (GRCm39)	A160V	possibly damaging	Het
Cnnm1	T	C	19: 43,460,389 (GRCm39)		probably null	Het
Cntnap3	A	T	13: 64,899,565 (GRCm39)	M976K	probably benign	Het
Cyp27b1	T	C	10: 126,886,543 (GRCm39)		probably benign	Het
Ddx54	T	A	5: 120,757,852 (GRCm39)	L226Q	probably damaging	Het
Dnah7a	A	G	1: 53,674,556 (GRCm39)	V407A	probably benign	Het
Elp4	A	G	2: 105,624,937 (GRCm39)	S201P	probably damaging	Het
Exoc3	A	T	13: 74,340,880 (GRCm39)	V308D	probably benign	Het
Exosc3	A	G	4: 45,319,671 (GRCm39)	I117T	probably damaging	Het
Gbx2	A	T	1: 89,856,871 (GRCm39)		probably benign	Het
Hnf1b	A	C	11: 83,773,559 (GRCm39)	T253P	possibly damaging	Het
Inhca	A	G	9: 103,140,273 (GRCm39)	V482A	probably benign	Het
Itih5	A	T	2: 10,191,786 (GRCm39)	Y107F	probably benign	Het
Kcnb2	A	G	1: 15,781,159 (GRCm39)	N677S	probably benign	Het
Knstrn	T	A	2: 118,654,269 (GRCm39)		probably null	Het
Lin9	G	T	1: 180,515,583 (GRCm39)	C451F	probably damaging	Het
Mast1	A	C	8: 85,638,883 (GRCm39)	V1482G	probably benign	Het
Mroh4	A	G	15: 74,497,390 (GRCm39)	F144L	probably benign	Het
Myrf	T	C	19: 10,191,504 (GRCm39)	N945D	probably benign	Het
Nfrkb	G	A	9: 31,300,308 (GRCm39)	G33D	probably benign	Het
Or5m9b	C	A	2: 85,905,132 (GRCm39)	T16K	probably damaging	Het
P2ry13	T	C	3: 59,116,886 (GRCm39)	I297M	probably damaging	Het
Pcdhb21	T	A	18: 37,647,645 (GRCm39)		probably null	Het
Pitpnm3	A	G	11: 71,942,684 (GRCm39)	Y868H	probably benign	Het
Pou2f3	G	A	9: 43,048,643 (GRCm39)	R266W	probably damaging	Het
Rcn3	T	C	7: 44,732,757 (GRCm39)	S304G	probably benign	Het
Rinl	A	G	7: 28,494,397 (GRCm39)		probably null	Het
Sema5a	T	C	15: 32,682,445 (GRCm39)		probably benign	Het
Slc5a9	A	G	4: 111,734,826 (GRCm39)	I656T	probably benign	Het
Sptan1	A	G	2: 29,920,752 (GRCm39)	K2404R	probably damaging	Het
Tars3	C	A	7: 65,310,913 (GRCm39)	P314Q	probably benign	Het
Tbc1d14	C	T	5: 36,652,562 (GRCm39)	V627I	possibly damaging	Het
Tdpoz8	A	G	3: 92,981,354 (GRCm39)	D124G	possibly damaging	Het
Tfcp2	A	T	15: 100,410,185 (GRCm39)	V394D	probably damaging	Het
Trerf1	C	T	17: 47,625,387 (GRCm39)		noncoding transcript	Het
Ucp2	A	G	7: 100,147,591 (GRCm39)	N190S	probably damaging	Het
Vmn2r124	A	G	17: 18,284,453 (GRCm39)	Q498R	probably benign	Het
Yeats2	T	A	16: 19,969,221 (GRCm39)	I4N	probably damaging	Het
Zfp574	T	G	7: 24,779,014 (GRCm39)	I12S	possibly damaging	Het
Zscan29	T	A	2: 120,994,314 (GRCm39)	E522V	probably benign	Het

Other mutations in Sipa1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Sipa1l2	APN	8	126,218,545 (GRCm39)	missense	probably damaging	1.00
IGL00939:Sipa1l2	APN	8	126,191,174 (GRCm39)	splice site	probably benign
IGL00965:Sipa1l2	APN	8	126,174,613 (GRCm39)	missense	probably benign	0.02
IGL01321:Sipa1l2	APN	8	126,218,257 (GRCm39)	missense	probably damaging	1.00
IGL01450:Sipa1l2	APN	8	126,149,316 (GRCm39)	critical splice donor site	probably null
IGL01753:Sipa1l2	APN	8	126,180,031 (GRCm39)	splice site	probably benign
IGL01930:Sipa1l2	APN	8	126,145,978 (GRCm39)	missense	probably damaging	0.99
IGL02041:Sipa1l2	APN	8	126,218,558 (GRCm39)	missense	probably benign	0.03
IGL02215:Sipa1l2	APN	8	126,174,576 (GRCm39)	missense	possibly damaging	0.67
IGL02272:Sipa1l2	APN	8	126,218,750 (GRCm39)	missense	probably damaging	1.00
IGL02538:Sipa1l2	APN	8	126,178,716 (GRCm39)	missense	probably damaging	1.00
IGL02633:Sipa1l2	APN	8	126,174,507 (GRCm39)	missense	probably damaging	1.00
IGL03394:Sipa1l2	APN	8	126,218,398 (GRCm39)	missense	possibly damaging	0.67
Rebellious	UTSW	8	126,195,078 (GRCm39)	missense	probably benign	0.01
R0144:Sipa1l2	UTSW	8	126,176,615 (GRCm39)	splice site	probably null
R0153:Sipa1l2	UTSW	8	126,148,637 (GRCm39)	missense	probably damaging	0.99
R0276:Sipa1l2	UTSW	8	126,148,679 (GRCm39)	missense	probably damaging	1.00
R0318:Sipa1l2	UTSW	8	126,174,436 (GRCm39)	missense	possibly damaging	0.73
R0373:Sipa1l2	UTSW	8	126,191,149 (GRCm39)	missense	probably damaging	0.99
R0427:Sipa1l2	UTSW	8	126,207,071 (GRCm39)	missense	probably damaging	1.00
R0634:Sipa1l2	UTSW	8	126,149,363 (GRCm39)	nonsense	probably null
R1377:Sipa1l2	UTSW	8	126,218,716 (GRCm39)	missense	probably damaging	1.00
R1404:Sipa1l2	UTSW	8	126,176,712 (GRCm39)	missense	probably damaging	1.00
R1404:Sipa1l2	UTSW	8	126,176,712 (GRCm39)	missense	probably damaging	1.00
R1435:Sipa1l2	UTSW	8	126,195,464 (GRCm39)	missense	probably damaging	1.00
R1523:Sipa1l2	UTSW	8	126,174,352 (GRCm39)	missense	possibly damaging	0.75
R1577:Sipa1l2	UTSW	8	126,219,001 (GRCm39)	missense	probably benign	0.00
R1581:Sipa1l2	UTSW	8	126,218,356 (GRCm39)	missense	probably damaging	0.96
R1583:Sipa1l2	UTSW	8	126,148,634 (GRCm39)	missense	probably damaging	0.97
R1719:Sipa1l2	UTSW	8	126,171,274 (GRCm39)	missense	probably damaging	0.99
R1730:Sipa1l2	UTSW	8	126,206,880 (GRCm39)	splice site	probably null
R1940:Sipa1l2	UTSW	8	126,206,887 (GRCm39)	splice site	probably benign
R2007:Sipa1l2	UTSW	8	126,166,176 (GRCm39)	missense	probably damaging	1.00
R2141:Sipa1l2	UTSW	8	126,218,230 (GRCm39)	missense	probably benign	0.07
R2203:Sipa1l2	UTSW	8	126,218,366 (GRCm39)	missense	probably damaging	0.99
R2764:Sipa1l2	UTSW	8	126,219,113 (GRCm39)	missense	probably damaging	0.99
R3722:Sipa1l2	UTSW	8	126,200,323 (GRCm39)	missense	probably damaging	1.00
R3787:Sipa1l2	UTSW	8	126,177,122 (GRCm39)	missense	possibly damaging	0.52
R3787:Sipa1l2	UTSW	8	126,149,944 (GRCm39)	missense	probably benign
R4106:Sipa1l2	UTSW	8	126,219,047 (GRCm39)	missense	probably damaging	1.00
R4117:Sipa1l2	UTSW	8	126,195,249 (GRCm39)	missense	probably damaging	1.00
R4194:Sipa1l2	UTSW	8	126,218,411 (GRCm39)	missense	probably benign	0.00
R4237:Sipa1l2	UTSW	8	126,218,395 (GRCm39)	missense	probably benign	0.44
R4240:Sipa1l2	UTSW	8	126,218,395 (GRCm39)	missense	probably benign	0.44
R4448:Sipa1l2	UTSW	8	126,219,094 (GRCm39)	missense	probably damaging	1.00
R4515:Sipa1l2	UTSW	8	126,218,965 (GRCm39)	missense	probably benign	0.00
R4519:Sipa1l2	UTSW	8	126,218,965 (GRCm39)	missense	probably benign	0.00
R4523:Sipa1l2	UTSW	8	126,219,163 (GRCm39)	missense	probably damaging	1.00
R4557:Sipa1l2	UTSW	8	126,191,154 (GRCm39)	missense	probably damaging	0.98
R4667:Sipa1l2	UTSW	8	126,180,209 (GRCm39)	missense	possibly damaging	0.93
R4687:Sipa1l2	UTSW	8	126,217,984 (GRCm39)	missense	probably damaging	1.00
R4854:Sipa1l2	UTSW	8	126,200,340 (GRCm39)	missense	probably damaging	1.00
R4890:Sipa1l2	UTSW	8	126,218,606 (GRCm39)	missense	probably damaging	1.00
R5065:Sipa1l2	UTSW	8	126,218,324 (GRCm39)	missense	probably benign	0.19
R5194:Sipa1l2	UTSW	8	126,166,012 (GRCm39)	missense	possibly damaging	0.48
R5266:Sipa1l2	UTSW	8	126,218,865 (GRCm39)	missense	probably damaging	0.99
R5475:Sipa1l2	UTSW	8	126,218,334 (GRCm39)	missense	probably damaging	1.00
R5718:Sipa1l2	UTSW	8	126,217,987 (GRCm39)	missense	probably damaging	1.00
R5910:Sipa1l2	UTSW	8	126,218,423 (GRCm39)	missense	probably benign	0.42
R5916:Sipa1l2	UTSW	8	126,195,312 (GRCm39)	missense	probably damaging	1.00
R5941:Sipa1l2	UTSW	8	126,200,275 (GRCm39)	missense	probably damaging	0.99
R6083:Sipa1l2	UTSW	8	126,195,212 (GRCm39)	missense	possibly damaging	0.87
R6185:Sipa1l2	UTSW	8	126,194,992 (GRCm39)	nonsense	probably null
R6235:Sipa1l2	UTSW	8	126,201,610 (GRCm39)	missense	probably damaging	1.00
R6274:Sipa1l2	UTSW	8	126,196,611 (GRCm39)	missense	probably damaging	1.00
R6299:Sipa1l2	UTSW	8	126,180,203 (GRCm39)	missense	possibly damaging	0.75
R6374:Sipa1l2	UTSW	8	126,171,369 (GRCm39)	missense	probably damaging	1.00
R6459:Sipa1l2	UTSW	8	126,171,223 (GRCm39)	critical splice donor site	probably null
R6462:Sipa1l2	UTSW	8	126,217,969 (GRCm39)	missense	probably damaging	1.00
R6496:Sipa1l2	UTSW	8	126,176,633 (GRCm39)	missense	probably benign	0.00
R6543:Sipa1l2	UTSW	8	126,177,101 (GRCm39)	missense	possibly damaging	0.50
R7154:Sipa1l2	UTSW	8	126,195,078 (GRCm39)	missense	probably benign	0.01
R7192:Sipa1l2	UTSW	8	126,149,348 (GRCm39)	missense	probably benign	0.09
R7240:Sipa1l2	UTSW	8	126,196,599 (GRCm39)	missense	probably damaging	1.00
R7361:Sipa1l2	UTSW	8	126,180,071 (GRCm39)	missense	probably damaging	1.00
R7383:Sipa1l2	UTSW	8	126,174,385 (GRCm39)	missense	probably damaging	1.00
R7417:Sipa1l2	UTSW	8	126,208,845 (GRCm39)	missense	possibly damaging	0.93
R7604:Sipa1l2	UTSW	8	126,146,011 (GRCm39)	missense	probably benign	0.45
R7658:Sipa1l2	UTSW	8	126,219,029 (GRCm39)	missense	probably benign	0.00
R7743:Sipa1l2	UTSW	8	126,190,972 (GRCm39)	missense	probably damaging	1.00
R7781:Sipa1l2	UTSW	8	126,218,566 (GRCm39)	missense	possibly damaging	0.46
R7812:Sipa1l2	UTSW	8	126,218,334 (GRCm39)	missense	probably damaging	1.00
R7829:Sipa1l2	UTSW	8	126,178,727 (GRCm39)	missense	probably damaging	1.00
R7880:Sipa1l2	UTSW	8	126,191,132 (GRCm39)	missense	probably damaging	1.00
R7884:Sipa1l2	UTSW	8	126,174,337 (GRCm39)	missense	probably benign
R8057:Sipa1l2	UTSW	8	126,195,269 (GRCm39)	missense	probably damaging	1.00
R8082:Sipa1l2	UTSW	8	126,218,548 (GRCm39)	missense	possibly damaging	0.82
R8092:Sipa1l2	UTSW	8	126,145,907 (GRCm39)	missense	probably benign	0.03
R8247:Sipa1l2	UTSW	8	126,149,372 (GRCm39)	missense	probably benign	0.29
R8252:Sipa1l2	UTSW	8	126,195,410 (GRCm39)	missense	probably damaging	1.00
R8386:Sipa1l2	UTSW	8	126,218,832 (GRCm39)	missense	probably damaging	1.00
R8466:Sipa1l2	UTSW	8	126,218,985 (GRCm39)	missense	probably damaging	1.00
R8697:Sipa1l2	UTSW	8	126,208,855 (GRCm39)	missense	probably damaging	1.00
R8725:Sipa1l2	UTSW	8	126,177,125 (GRCm39)	missense	probably benign	0.28
R8727:Sipa1l2	UTSW	8	126,177,125 (GRCm39)	missense	probably benign	0.28
R9048:Sipa1l2	UTSW	8	126,174,465 (GRCm39)	missense	possibly damaging	0.59
R9224:Sipa1l2	UTSW	8	126,218,716 (GRCm39)	missense	probably damaging	1.00
R9279:Sipa1l2	UTSW	8	126,208,896 (GRCm39)	missense	probably damaging	1.00
R9392:Sipa1l2	UTSW	8	126,194,960 (GRCm39)	missense	probably benign
R9574:Sipa1l2	UTSW	8	126,169,453 (GRCm39)	missense	probably benign
R9591:Sipa1l2	UTSW	8	126,219,112 (GRCm39)	missense	probably damaging	0.99
R9614:Sipa1l2	UTSW	8	126,196,565 (GRCm39)	missense	probably null	0.01
R9690:Sipa1l2	UTSW	8	126,218,996 (GRCm39)	missense	probably benign
X0027:Sipa1l2	UTSW	8	126,218,875 (GRCm39)	missense	probably damaging	1.00
Z1177:Sipa1l2	UTSW	8	126,174,295 (GRCm39)	missense	possibly damaging	0.72

Posted On

2015-04-16