Mutagenetix > Incidental Mutation

Incidental Mutation 'R4237:Sipa1l2'

321171

Institutional Source

Beutler Lab

Gene Symbol

Sipa1l2

Ensembl Gene

ENSMUSG00000001995

Gene Name

signal-induced proliferation-associated 1 like 2

Synonyms

MMRRC Submission

041054-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R4237 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125418063-125569808 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125491656 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 314 (E314G)

Ref Sequence

ENSEMBL: ENSMUSP00000148557 (fasta)

Gene Model

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

AlphaFold

Q80TE4

Predicted Effect

probably benign
Transcript: ENSMUST00000108775
AA Change: E314G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: E314G

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 benign
Transcript: ENSMUST00000212168
AA Change: E314G

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000212987
AA Change: E314G

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.1806

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (44/44)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,980,842 (GRCm38)	D397G	probably benign	Het
6820408C15Rik	C	T	2: 152,428,953 (GRCm38)	T32I	possibly damaging	Het
Abca13	A	G	11: 9,434,188 (GRCm38)	K3880R	probably benign	Het
Ahnak	C	T	19: 9,001,783 (GRCm38)	L144F	probably benign	Het
Antxr2	A	T	5: 97,938,407 (GRCm38)	I447N	probably damaging	Het
Cdc20	C	T	4: 118,433,060 (GRCm38)	R468Q	probably damaging	Het
Clip2	A	G	5: 134,535,197 (GRCm38)		probably benign	Het
Cntnap2	A	T	6: 46,530,390 (GRCm38)		probably benign	Het
Ddi1	A	G	9: 6,265,799 (GRCm38)	M190T	probably benign	Het
Dicer1	A	G	12: 104,729,228 (GRCm38)	V148A	possibly damaging	Het
Dpp8	A	G	9: 65,054,923 (GRCm38)	D415G	probably benign	Het
Galnt11	G	A	5: 25,265,260 (GRCm38)	R569Q	probably benign	Het
Gpr6	T	C	10: 41,070,608 (GRCm38)	N326S	probably damaging	Het
Hexb	T	C	13: 97,176,751 (GRCm38)		probably benign	Het
Ighv3-4	A	T	12: 114,253,913 (GRCm38)	D19E	probably benign	Het
L3mbtl3	G	A	10: 26,340,948 (GRCm38)	A181V	unknown	Het
Lrrc37a	G	A	11: 103,502,289 (GRCm38)	T770I	probably damaging	Het
Or12e8	T	C	2: 87,358,253 (GRCm38)	S270P	probably damaging	Het
Or2d2	A	G	7: 107,129,037 (GRCm38)	S119P	probably damaging	Het
Or6a2	T	C	7: 107,001,329 (GRCm38)	N177S	probably damaging	Het
Or7g31	C	T	9: 19,477,597 (GRCm38)	V215I	probably benign	Het
Phactr1	T	A	13: 43,094,887 (GRCm38)	N437K	possibly damaging	Het
Ppp1r13b	T	C	12: 111,838,736 (GRCm38)	T181A	probably benign	Het
Prc1	G	A	7: 80,311,216 (GRCm38)		probably benign	Het
Proca1	A	G	11: 78,204,926 (GRCm38)	N128S	probably benign	Het
Psmd8	G	A	7: 29,177,121 (GRCm38)	P155L	probably damaging	Het
Rad54l	A	G	4: 116,099,449 (GRCm38)	V500A	probably damaging	Het
Scamp3	G	A	3: 89,181,927 (GRCm38)		probably null	Het
Serpinb10	C	T	1: 107,538,449 (GRCm38)	T55M	probably benign	Het
Slc14a2	G	A	18: 78,207,068 (GRCm38)	R62C	probably damaging	Het
Tdrd9	C	T	12: 112,067,625 (GRCm38)	R1334*	probably null	Het
Trank1	A	G	9: 111,367,035 (GRCm38)	I1376V	probably benign	Het
Trim28	T	A	7: 13,027,911 (GRCm38)	H268Q	possibly damaging	Het
Vmn2r76	T	A	7: 86,230,532 (GRCm38)	I187L	probably benign	Het
Wdr95	A	T	5: 149,563,337 (GRCm38)	R160*	probably null	Het
Wnt5a	T	C	14: 28,522,866 (GRCm38)	C357R	probably damaging	Het
Zfp157	A	G	5: 138,447,541 (GRCm38)	I53V	probably damaging	Het
Zfp184	G	A	13: 21,958,778 (GRCm38)	R218H	probably damaging	Het

Other mutations in Sipa1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Sipa1l2	APN	8	125,491,806 (GRCm38)	missense	probably damaging	1.00
IGL00939:Sipa1l2	APN	8	125,464,435 (GRCm38)	splice site	probably benign
IGL00965:Sipa1l2	APN	8	125,447,874 (GRCm38)	missense	probably benign	0.02
IGL01321:Sipa1l2	APN	8	125,491,518 (GRCm38)	missense	probably damaging	1.00
IGL01450:Sipa1l2	APN	8	125,422,577 (GRCm38)	critical splice donor site	probably null
IGL01753:Sipa1l2	APN	8	125,453,292 (GRCm38)	splice site	probably benign
IGL01930:Sipa1l2	APN	8	125,419,239 (GRCm38)	missense	probably damaging	0.99
IGL02041:Sipa1l2	APN	8	125,491,819 (GRCm38)	missense	probably benign	0.03
IGL02215:Sipa1l2	APN	8	125,447,837 (GRCm38)	missense	possibly damaging	0.67
IGL02272:Sipa1l2	APN	8	125,492,011 (GRCm38)	missense	probably damaging	1.00
IGL02370:Sipa1l2	APN	8	125,480,269 (GRCm38)	missense	probably damaging	1.00
IGL02538:Sipa1l2	APN	8	125,451,977 (GRCm38)	missense	probably damaging	1.00
IGL02633:Sipa1l2	APN	8	125,447,768 (GRCm38)	missense	probably damaging	1.00
IGL03394:Sipa1l2	APN	8	125,491,659 (GRCm38)	missense	possibly damaging	0.67
Rebellious	UTSW	8	125,468,339 (GRCm38)	missense	probably benign	0.01
R0144:Sipa1l2	UTSW	8	125,449,876 (GRCm38)	splice site	probably null
R0153:Sipa1l2	UTSW	8	125,421,898 (GRCm38)	missense	probably damaging	0.99
R0276:Sipa1l2	UTSW	8	125,421,940 (GRCm38)	missense	probably damaging	1.00
R0318:Sipa1l2	UTSW	8	125,447,697 (GRCm38)	missense	possibly damaging	0.73
R0373:Sipa1l2	UTSW	8	125,464,410 (GRCm38)	missense	probably damaging	0.99
R0427:Sipa1l2	UTSW	8	125,480,332 (GRCm38)	missense	probably damaging	1.00
R0634:Sipa1l2	UTSW	8	125,422,624 (GRCm38)	nonsense	probably null
R1377:Sipa1l2	UTSW	8	125,491,977 (GRCm38)	missense	probably damaging	1.00
R1404:Sipa1l2	UTSW	8	125,449,973 (GRCm38)	missense	probably damaging	1.00
R1404:Sipa1l2	UTSW	8	125,449,973 (GRCm38)	missense	probably damaging	1.00
R1435:Sipa1l2	UTSW	8	125,468,725 (GRCm38)	missense	probably damaging	1.00
R1523:Sipa1l2	UTSW	8	125,447,613 (GRCm38)	missense	possibly damaging	0.75
R1577:Sipa1l2	UTSW	8	125,492,262 (GRCm38)	missense	probably benign	0.00
R1581:Sipa1l2	UTSW	8	125,491,617 (GRCm38)	missense	probably damaging	0.96
R1583:Sipa1l2	UTSW	8	125,421,895 (GRCm38)	missense	probably damaging	0.97
R1719:Sipa1l2	UTSW	8	125,444,535 (GRCm38)	missense	probably damaging	0.99
R1730:Sipa1l2	UTSW	8	125,480,141 (GRCm38)	splice site	probably null
R1940:Sipa1l2	UTSW	8	125,480,148 (GRCm38)	splice site	probably benign
R2007:Sipa1l2	UTSW	8	125,439,437 (GRCm38)	missense	probably damaging	1.00
R2141:Sipa1l2	UTSW	8	125,491,491 (GRCm38)	missense	probably benign	0.07
R2203:Sipa1l2	UTSW	8	125,491,627 (GRCm38)	missense	probably damaging	0.99
R2764:Sipa1l2	UTSW	8	125,492,374 (GRCm38)	missense	probably damaging	0.99
R3722:Sipa1l2	UTSW	8	125,473,584 (GRCm38)	missense	probably damaging	1.00
R3787:Sipa1l2	UTSW	8	125,450,383 (GRCm38)	missense	possibly damaging	0.52
R3787:Sipa1l2	UTSW	8	125,423,205 (GRCm38)	missense	probably benign
R4106:Sipa1l2	UTSW	8	125,492,308 (GRCm38)	missense	probably damaging	1.00
R4117:Sipa1l2	UTSW	8	125,468,510 (GRCm38)	missense	probably damaging	1.00
R4194:Sipa1l2	UTSW	8	125,491,672 (GRCm38)	missense	probably benign	0.00
R4240:Sipa1l2	UTSW	8	125,491,656 (GRCm38)	missense	probably benign	0.44
R4448:Sipa1l2	UTSW	8	125,492,355 (GRCm38)	missense	probably damaging	1.00
R4515:Sipa1l2	UTSW	8	125,492,226 (GRCm38)	missense	probably benign	0.00
R4519:Sipa1l2	UTSW	8	125,492,226 (GRCm38)	missense	probably benign	0.00
R4523:Sipa1l2	UTSW	8	125,492,424 (GRCm38)	missense	probably damaging	1.00
R4557:Sipa1l2	UTSW	8	125,464,415 (GRCm38)	missense	probably damaging	0.98
R4667:Sipa1l2	UTSW	8	125,453,470 (GRCm38)	missense	possibly damaging	0.93
R4687:Sipa1l2	UTSW	8	125,491,245 (GRCm38)	missense	probably damaging	1.00
R4854:Sipa1l2	UTSW	8	125,473,601 (GRCm38)	missense	probably damaging	1.00
R4890:Sipa1l2	UTSW	8	125,491,867 (GRCm38)	missense	probably damaging	1.00
R5065:Sipa1l2	UTSW	8	125,491,585 (GRCm38)	missense	probably benign	0.19
R5194:Sipa1l2	UTSW	8	125,439,273 (GRCm38)	missense	possibly damaging	0.48
R5266:Sipa1l2	UTSW	8	125,492,126 (GRCm38)	missense	probably damaging	0.99
R5475:Sipa1l2	UTSW	8	125,491,595 (GRCm38)	missense	probably damaging	1.00
R5718:Sipa1l2	UTSW	8	125,491,248 (GRCm38)	missense	probably damaging	1.00
R5910:Sipa1l2	UTSW	8	125,491,684 (GRCm38)	missense	probably benign	0.42
R5916:Sipa1l2	UTSW	8	125,468,573 (GRCm38)	missense	probably damaging	1.00
R5941:Sipa1l2	UTSW	8	125,473,536 (GRCm38)	missense	probably damaging	0.99
R6083:Sipa1l2	UTSW	8	125,468,473 (GRCm38)	missense	possibly damaging	0.87
R6185:Sipa1l2	UTSW	8	125,468,253 (GRCm38)	nonsense	probably null
R6235:Sipa1l2	UTSW	8	125,474,871 (GRCm38)	missense	probably damaging	1.00
R6274:Sipa1l2	UTSW	8	125,469,872 (GRCm38)	missense	probably damaging	1.00
R6299:Sipa1l2	UTSW	8	125,453,464 (GRCm38)	missense	possibly damaging	0.75
R6374:Sipa1l2	UTSW	8	125,444,630 (GRCm38)	missense	probably damaging	1.00
R6459:Sipa1l2	UTSW	8	125,444,484 (GRCm38)	critical splice donor site	probably null
R6462:Sipa1l2	UTSW	8	125,491,230 (GRCm38)	missense	probably damaging	1.00
R6496:Sipa1l2	UTSW	8	125,449,894 (GRCm38)	missense	probably benign	0.00
R6543:Sipa1l2	UTSW	8	125,450,362 (GRCm38)	missense	possibly damaging	0.50
R7154:Sipa1l2	UTSW	8	125,468,339 (GRCm38)	missense	probably benign	0.01
R7192:Sipa1l2	UTSW	8	125,422,609 (GRCm38)	missense	probably benign	0.09
R7240:Sipa1l2	UTSW	8	125,469,860 (GRCm38)	missense	probably damaging	1.00
R7361:Sipa1l2	UTSW	8	125,453,332 (GRCm38)	missense	probably damaging	1.00
R7383:Sipa1l2	UTSW	8	125,447,646 (GRCm38)	missense	probably damaging	1.00
R7417:Sipa1l2	UTSW	8	125,482,106 (GRCm38)	missense	possibly damaging	0.93
R7604:Sipa1l2	UTSW	8	125,419,272 (GRCm38)	missense	probably benign	0.45
R7658:Sipa1l2	UTSW	8	125,492,290 (GRCm38)	missense	probably benign	0.00
R7743:Sipa1l2	UTSW	8	125,464,233 (GRCm38)	missense	probably damaging	1.00
R7781:Sipa1l2	UTSW	8	125,491,827 (GRCm38)	missense	possibly damaging	0.46
R7812:Sipa1l2	UTSW	8	125,491,595 (GRCm38)	missense	probably damaging	1.00
R7829:Sipa1l2	UTSW	8	125,451,988 (GRCm38)	missense	probably damaging	1.00
R7880:Sipa1l2	UTSW	8	125,464,393 (GRCm38)	missense	probably damaging	1.00
R7884:Sipa1l2	UTSW	8	125,447,598 (GRCm38)	missense	probably benign
R8057:Sipa1l2	UTSW	8	125,468,530 (GRCm38)	missense	probably damaging	1.00
R8082:Sipa1l2	UTSW	8	125,491,809 (GRCm38)	missense	possibly damaging	0.82
R8092:Sipa1l2	UTSW	8	125,419,168 (GRCm38)	missense	probably benign	0.03
R8247:Sipa1l2	UTSW	8	125,422,633 (GRCm38)	missense	probably benign	0.29
R8252:Sipa1l2	UTSW	8	125,468,671 (GRCm38)	missense	probably damaging	1.00
R8386:Sipa1l2	UTSW	8	125,492,093 (GRCm38)	missense	probably damaging	1.00
R8466:Sipa1l2	UTSW	8	125,492,246 (GRCm38)	missense	probably damaging	1.00
R8697:Sipa1l2	UTSW	8	125,482,116 (GRCm38)	missense	probably damaging	1.00
R8725:Sipa1l2	UTSW	8	125,450,386 (GRCm38)	missense	probably benign	0.28
R8727:Sipa1l2	UTSW	8	125,450,386 (GRCm38)	missense	probably benign	0.28
R9048:Sipa1l2	UTSW	8	125,447,726 (GRCm38)	missense	possibly damaging	0.59
R9224:Sipa1l2	UTSW	8	125,491,977 (GRCm38)	missense	probably damaging	1.00
R9279:Sipa1l2	UTSW	8	125,482,157 (GRCm38)	missense	probably damaging	1.00
R9392:Sipa1l2	UTSW	8	125,468,221 (GRCm38)	missense	probably benign
R9574:Sipa1l2	UTSW	8	125,442,714 (GRCm38)	missense	probably benign
R9591:Sipa1l2	UTSW	8	125,492,373 (GRCm38)	missense	probably damaging	0.99
R9614:Sipa1l2	UTSW	8	125,469,826 (GRCm38)	missense	probably null	0.01
R9690:Sipa1l2	UTSW	8	125,492,257 (GRCm38)	missense	probably benign
X0027:Sipa1l2	UTSW	8	125,492,136 (GRCm38)	missense	probably damaging	1.00
Z1177:Sipa1l2	UTSW	8	125,447,556 (GRCm38)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- AGTTGAGGTCCTCCTTACTGC -3'
(R):5'- TTGTCCGCATCTCAGGGTTG -3'

Sequencing Primer
(F):5'- TCCTTACTGCCCAGCGG -3'
(R):5'- CATCTCAGGGTTGGACTACATG -3'

Posted On

2015-06-12