Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02496:Sipa1l1'

295833

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sipa1l1

Ensembl Gene

ENSMUSG00000042700

Gene Name

signal-induced proliferation-associated 1 like 1

Synonyms

4931426N11Rik, Spar

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

82169320-82451786 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82425094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1283 (Y1283N)

Ref Sequence

ENSEMBL: ENSMUSP00000152212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053969] [ENSMUST00000166429] [ENSMUST00000220963] [ENSMUST00000222298] [ENSMUST00000222714]

AlphaFold

Q8C0T5

Predicted Effect

probably damaging
Transcript: ENSMUST00000053969
AA Change: Y1283N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: Y1283N

Domain	Start	End	E-Value	Type
low complexity region	92	129	N/A	INTRINSIC
low complexity region	362	377	N/A	INTRINSIC
low complexity region	430	449	N/A	INTRINSIC
Pfam:Rap_GAP	628	810	8.9e-70	PFAM
PDZ	962	1028	2.63e-9	SMART
low complexity region	1149	1164	N/A	INTRINSIC
low complexity region	1255	1279	N/A	INTRINSIC
low complexity region	1315	1328	N/A	INTRINSIC
low complexity region	1432	1447	N/A	INTRINSIC
Pfam:SPAR_C	1483	1727	4.4e-86	PFAM
low complexity region	1731	1746	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166429
AA Change: Y1283N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: Y1283N

Domain	Start	End	E-Value	Type
low complexity region	92	129	N/A	INTRINSIC
low complexity region	362	377	N/A	INTRINSIC
low complexity region	430	449	N/A	INTRINSIC
Pfam:Rap_GAP	628	816	1.3e-64	PFAM
PDZ	962	1028	1.3e-11	SMART
low complexity region	1149	1164	N/A	INTRINSIC
low complexity region	1255	1279	N/A	INTRINSIC
low complexity region	1315	1328	N/A	INTRINSIC
low complexity region	1432	1447	N/A	INTRINSIC
Pfam:DUF3401	1483	1727	1.8e-91	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000220963
AA Change: Y1283N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000221169

Predicted Effect

probably damaging
Transcript: ENSMUST00000222298
AA Change: Y1283N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222714
AA Change: Y1283N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,288,553	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,105,604	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,250,943	R44Q	probably benign	Het
Amigo2	A	T	15: 97,245,613	C309*	probably null	Het
Ccdc88c	A	C	12: 100,953,293	S446A	probably benign	Het
Cd9	A	T	6: 125,472,495	V28E	probably damaging	Het
Cops2	A	T	2: 125,836,243		probably benign	Het
Csn1s1	C	T	5: 87,677,594		probably benign	Het
Cul9	G	T	17: 46,540,376	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,149,705	H1457N	probably damaging	Het
Dnah9	A	G	11: 66,029,363	S2235P	probably damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919		probably benign	Het
Flnc	G	T	6: 29,440,685	V301L	probably damaging	Het
Hfm1	T	C	5: 106,901,761	S445G	probably benign	Het
Hif3a	A	G	7: 17,039,678		probably benign	Het
Hsd17b4	T	C	18: 50,155,153	Y217H	probably damaging	Het
Iba57	T	C	11: 59,158,946	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,726,687	I78N	probably damaging	Het
Inhbe	A	T	10: 127,350,928	W128R	probably damaging	Het
Ism1	T	C	2: 139,757,201	C365R	probably damaging	Het
Kif19a	A	T	11: 114,779,644	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,857,558		probably benign	Het
Mmp20	A	G	9: 7,654,041	R321G	probably damaging	Het
Msl2	T	C	9: 101,100,655	M76T	possibly damaging	Het
Nme9	T	C	9: 99,469,631	C223R	probably damaging	Het
Nucb1	G	T	7: 45,495,043		probably benign	Het
Ocrl	G	A	X: 47,933,438	D262N	probably benign	Het
Olfr1450	T	A	19: 12,954,192	I201N	possibly damaging	Het
Olfr449	A	C	6: 42,838,804	I308L	probably benign	Het
Olfr46	A	C	7: 140,610,168	M1L	probably benign	Het
P4ha1	A	G	10: 59,371,002		probably null	Het
Parp8	T	C	13: 116,862,302		probably benign	Het
Pcdhb6	A	G	18: 37,335,454	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,264,376	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,607,094	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,289,663	I103V	probably benign	Het
Plscr3	C	A	11: 69,847,383		probably benign	Het
Pmaip1	A	G	18: 66,463,299	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,339,666	P370L	possibly damaging	Het
Prr36	C	A	8: 4,216,407	E48*	probably null	Het
Ptgir	G	A	7: 16,907,484	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,590,144	V219E	probably benign	Het
Rab39b	T	A	X: 75,575,003	I74F	probably damaging	Het
Rasal2	A	T	1: 157,149,879	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,711,726	A20T	probably null	Het
Serpinb10	A	C	1: 107,538,425		probably null	Het
Slc22a23	T	A	13: 34,344,485	I105F	possibly damaging	Het
Slc25a20	T	A	9: 108,682,400	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,620,088	H691L	probably damaging	Het
Smo	A	C	6: 29,758,481	T542P	probably damaging	Het
Spats2	T	A	15: 99,173,448	I51N	probably damaging	Het
Spon1	G	T	7: 114,036,662	V704L	probably benign	Het
St5	C	A	7: 109,556,235	R436L	possibly damaging	Het
Tex9	T	A	9: 72,482,492	Q112L	probably benign	Het
Tgfbr2	T	C	9: 116,090,418	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335	V141E	probably benign	Het
Trhde	A	T	10: 114,800,561	L247*	probably null	Het
Umodl1	G	T	17: 30,998,654	V1145F	probably damaging	Het
Vasp	C	A	7: 19,258,823		probably benign	Het
Vmn1r8	G	T	6: 57,036,571	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,568,856	T505A	probably benign	Het
Wdr27	A	G	17: 14,892,431		probably benign	Het
Wfdc1	T	G	8: 119,680,170	V109G	probably damaging	Het
Zan	C	A	5: 137,464,794	E708*	probably null	Het
Zbtb1	T	A	12: 76,385,395	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,629,992	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,624,042	S349P	probably damaging	Het
Znfx1	A	T	2: 167,047,630	C731S	possibly damaging	Het

Other mutations in Sipa1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Sipa1l1	APN	12	82387696	missense	probably benign	0.06
IGL01478:Sipa1l1	APN	12	82446898	missense	probably benign	0.00
IGL01620:Sipa1l1	APN	12	82422489	missense	probably damaging	0.97
IGL02550:Sipa1l1	APN	12	82440949	nonsense	probably null
IGL02689:Sipa1l1	APN	12	82440820	missense	probably benign	0.01
IGL02706:Sipa1l1	APN	12	82397433	missense	possibly damaging	0.95
IGL02995:Sipa1l1	APN	12	82357331	missense	probably benign	0.39
IGL03104:Sipa1l1	APN	12	82342130	missense	probably benign	0.05
IGL03295:Sipa1l1	APN	12	82432940	missense	probably damaging	1.00
bullae	UTSW	12	82342250	missense	probably damaging	1.00
bullish	UTSW	12	82422471	nonsense	probably null
ebullient	UTSW	12	82341672	missense	probably benign	0.18
PIT4431001:Sipa1l1	UTSW	12	82396516	missense	probably benign	0.34
R0140:Sipa1l1	UTSW	12	82396200	missense	probably damaging	1.00
R0348:Sipa1l1	UTSW	12	82384756	critical splice donor site	probably null
R0534:Sipa1l1	UTSW	12	82425280	missense	possibly damaging	0.94
R0538:Sipa1l1	UTSW	12	82425099	missense	probably benign	0.00
R0547:Sipa1l1	UTSW	12	82437736	missense	probably benign
R0980:Sipa1l1	UTSW	12	82342220	missense	possibly damaging	0.60
R1051:Sipa1l1	UTSW	12	82449345	missense	possibly damaging	0.48
R1244:Sipa1l1	UTSW	12	82425416	missense	probably benign	0.00
R1473:Sipa1l1	UTSW	12	82341111	missense	probably damaging	1.00
R1508:Sipa1l1	UTSW	12	82440893	missense	probably damaging	1.00
R1563:Sipa1l1	UTSW	12	82341161	missense	probably benign	0.31
R1671:Sipa1l1	UTSW	12	82397461	missense	probably damaging	1.00
R1935:Sipa1l1	UTSW	12	82372434	missense	probably damaging	1.00
R1950:Sipa1l1	UTSW	12	82341459	missense	probably damaging	0.98
R2191:Sipa1l1	UTSW	12	82396691	nonsense	probably null
R2249:Sipa1l1	UTSW	12	82342116	missense	probably benign
R2909:Sipa1l1	UTSW	12	82357331	missense	probably benign	0.39
R4012:Sipa1l1	UTSW	12	82341782	missense	possibly damaging	0.86
R4154:Sipa1l1	UTSW	12	82425214	missense	possibly damaging	0.95
R4382:Sipa1l1	UTSW	12	82446822	missense	possibly damaging	0.46
R4448:Sipa1l1	UTSW	12	82341750	missense	probably benign	0.15
R4651:Sipa1l1	UTSW	12	82422471	nonsense	probably null
R4652:Sipa1l1	UTSW	12	82422471	nonsense	probably null
R4751:Sipa1l1	UTSW	12	82341194	missense	probably benign
R4755:Sipa1l1	UTSW	12	82372386	missense	possibly damaging	0.74
R4888:Sipa1l1	UTSW	12	82342333	missense	probably damaging	0.96
R4912:Sipa1l1	UTSW	12	82396678	missense	possibly damaging	0.89
R4937:Sipa1l1	UTSW	12	82341329	missense	probably benign	0.01
R5068:Sipa1l1	UTSW	12	82437827	missense	probably damaging	1.00
R5113:Sipa1l1	UTSW	12	82440908	missense	probably benign	0.11
R5114:Sipa1l1	UTSW	12	82440908	missense	probably benign	0.11
R5240:Sipa1l1	UTSW	12	82341588	missense	possibly damaging	0.92
R6041:Sipa1l1	UTSW	12	82342250	missense	probably damaging	1.00
R6048:Sipa1l1	UTSW	12	82440869	missense	probably benign	0.03
R6170:Sipa1l1	UTSW	12	82341672	missense	probably benign	0.18
R6185:Sipa1l1	UTSW	12	82425028	missense	probably damaging	1.00
R6326:Sipa1l1	UTSW	12	82372468	missense	probably damaging	1.00
R6842:Sipa1l1	UTSW	12	82420546	missense	probably benign	0.00
R7008:Sipa1l1	UTSW	12	82363112	missense	probably damaging	0.99
R7058:Sipa1l1	UTSW	12	82403122	missense	probably benign	0.00
R7069:Sipa1l1	UTSW	12	82341406	missense	probably damaging	0.99
R7122:Sipa1l1	UTSW	12	82422462	missense	possibly damaging	0.79
R7310:Sipa1l1	UTSW	12	82372495	missense	probably damaging	1.00
R7469:Sipa1l1	UTSW	12	82420664	critical splice donor site	probably null
R7718:Sipa1l1	UTSW	12	82342497	missense	probably damaging	1.00
R7787:Sipa1l1	UTSW	12	82449988	missense	possibly damaging	0.81
R7844:Sipa1l1	UTSW	12	82397493	missense	probably damaging	1.00
R7893:Sipa1l1	UTSW	12	82341568	missense	probably benign	0.00
R7953:Sipa1l1	UTSW	12	82449926	missense	probably damaging	1.00
R8043:Sipa1l1	UTSW	12	82449926	missense	probably damaging	1.00
R8099:Sipa1l1	UTSW	12	82433826	missense	probably benign	0.08
R8135:Sipa1l1	UTSW	12	82341301	missense	probably benign
R8229:Sipa1l1	UTSW	12	82437848	missense	probably damaging	1.00
R8348:Sipa1l1	UTSW	12	82396271	missense	probably benign	0.13
R8388:Sipa1l1	UTSW	12	82169485	unclassified	probably benign
R8693:Sipa1l1	UTSW	12	82169743	unclassified	probably benign
R8826:Sipa1l1	UTSW	12	82342433	missense	probably damaging	1.00
R8884:Sipa1l1	UTSW	12	82363097	missense	probably damaging	0.99
R8940:Sipa1l1	UTSW	12	82357266	missense	probably damaging	1.00
R8975:Sipa1l1	UTSW	12	82432838	missense	possibly damaging	0.87
R9145:Sipa1l1	UTSW	12	82396561	missense	probably benign	0.01
R9328:Sipa1l1	UTSW	12	82342018	missense	possibly damaging	0.63
R9455:Sipa1l1	UTSW	12	82387625	missense	probably damaging	1.00
R9486:Sipa1l1	UTSW	12	82357365	critical splice donor site	probably null
R9631:Sipa1l1	UTSW	12	82341002	start codon destroyed	probably null	0.39
R9727:Sipa1l1	UTSW	12	82425055	missense	probably damaging	1.00
R9753:Sipa1l1	UTSW	12	82416989	missense	possibly damaging	0.93

Posted On

2015-04-16