Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03295:Sipa1l1'

416059

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sipa1l1

Ensembl Gene

ENSMUSG00000042700

Gene Name

signal-induced proliferation-associated 1 like 1

Synonyms

Spar, 4931426N11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03295

Quality Score

Status

Chromosome

Chromosomal Location

82216138-82498560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82479714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1466 (W1466R)

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: W1466R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: W1466R

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: W1466R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: W1466R

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: W1466R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222298
AA Change: W1466R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222714
AA Change: W1466R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,390,915 (GRCm39)		probably benign	Het
Adamts5	T	C	16: 85,674,833 (GRCm39)	T444A	probably damaging	Het
Aldh18a1	T	C	19: 40,551,386 (GRCm39)	E522G	probably damaging	Het
Bbx	T	C	16: 50,044,927 (GRCm39)	T437A	probably damaging	Het
Bsx	A	G	9: 40,785,743 (GRCm39)		probably benign	Het
Cdc42bpa	A	G	1: 179,977,769 (GRCm39)	N729S	probably benign	Het
Cdk1	G	T	10: 69,178,373 (GRCm39)	H162Q	possibly damaging	Het
Chrac1	A	G	15: 72,965,445 (GRCm39)		probably benign	Het
Cip2a	T	C	16: 48,814,704 (GRCm39)	S22P	probably damaging	Het
Ddx60	A	T	8: 62,409,155 (GRCm39)	D397V	possibly damaging	Het
Edn2	T	A	4: 120,019,178 (GRCm39)	C56S	probably damaging	Het
Gm4952	T	C	19: 12,595,691 (GRCm39)	V27A	probably benign	Het
Herc1	T	A	9: 66,303,985 (GRCm39)	S763T	possibly damaging	Het
Hspd1	G	A	1: 55,119,334 (GRCm39)	T381I	probably benign	Het
Krt1c	T	A	15: 101,724,864 (GRCm39)	I249F	probably damaging	Het
Lman2l	T	C	1: 36,477,892 (GRCm39)	D148G	probably damaging	Het
Lrp1b	C	T	2: 40,568,999 (GRCm39)		probably null	Het
Mier3	C	A	13: 111,840,215 (GRCm39)	T51K	probably benign	Het
Ppp1r36	C	T	12: 76,485,192 (GRCm39)	P305L	probably damaging	Het
Pramel27	G	A	4: 143,579,759 (GRCm39)	C448Y	probably damaging	Het
Prdm1	T	C	10: 44,315,866 (GRCm39)	I790V	probably damaging	Het
Sephs2	T	C	7: 126,871,941 (GRCm39)	E384G	possibly damaging	Het
Snai2	T	C	16: 14,524,638 (GRCm39)	L48P	possibly damaging	Het
Stt3a	A	G	9: 36,674,627 (GRCm39)		probably null	Het
Synj1	T	A	16: 90,735,318 (GRCm39)	N1545I	probably benign	Het
Vav2	A	T	2: 27,165,041 (GRCm39)	S607T	possibly damaging	Het
Wdr27	T	C	17: 15,154,837 (GRCm39)	K27E	possibly damaging	Het
Xcl1	A	T	1: 164,763,004 (GRCm39)	V19E	unknown	Het
Xlr3c	A	T	X: 72,301,240 (GRCm39)		probably null	Het
Zbtb44	T	A	9: 30,964,753 (GRCm39)	D54E	probably benign	Het
Zscan21	A	G	5: 138,123,540 (GRCm39)	D73G	possibly damaging	Het

Other mutations in Sipa1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Sipa1l1	APN	12	82,434,470 (GRCm39)	missense	probably benign	0.06
IGL01478:Sipa1l1	APN	12	82,493,672 (GRCm39)	missense	probably benign	0.00
IGL01620:Sipa1l1	APN	12	82,469,263 (GRCm39)	missense	probably damaging	0.97
IGL02496:Sipa1l1	APN	12	82,471,868 (GRCm39)	missense	probably damaging	1.00
IGL02550:Sipa1l1	APN	12	82,487,723 (GRCm39)	nonsense	probably null
IGL02689:Sipa1l1	APN	12	82,487,594 (GRCm39)	missense	probably benign	0.01
IGL02706:Sipa1l1	APN	12	82,444,207 (GRCm39)	missense	possibly damaging	0.95
IGL02995:Sipa1l1	APN	12	82,404,105 (GRCm39)	missense	probably benign	0.39
IGL03104:Sipa1l1	APN	12	82,388,904 (GRCm39)	missense	probably benign	0.05
bullae	UTSW	12	82,389,024 (GRCm39)	missense	probably damaging	1.00
bullish	UTSW	12	82,469,245 (GRCm39)	nonsense	probably null
ebullient	UTSW	12	82,388,446 (GRCm39)	missense	probably benign	0.18
PIT4431001:Sipa1l1	UTSW	12	82,443,290 (GRCm39)	missense	probably benign	0.34
R0140:Sipa1l1	UTSW	12	82,442,974 (GRCm39)	missense	probably damaging	1.00
R0348:Sipa1l1	UTSW	12	82,431,530 (GRCm39)	critical splice donor site	probably null
R0534:Sipa1l1	UTSW	12	82,472,054 (GRCm39)	missense	possibly damaging	0.94
R0538:Sipa1l1	UTSW	12	82,471,873 (GRCm39)	missense	probably benign	0.00
R0547:Sipa1l1	UTSW	12	82,484,510 (GRCm39)	missense	probably benign
R0980:Sipa1l1	UTSW	12	82,388,994 (GRCm39)	missense	possibly damaging	0.60
R1051:Sipa1l1	UTSW	12	82,496,119 (GRCm39)	missense	possibly damaging	0.48
R1244:Sipa1l1	UTSW	12	82,472,190 (GRCm39)	missense	probably benign	0.00
R1473:Sipa1l1	UTSW	12	82,387,885 (GRCm39)	missense	probably damaging	1.00
R1508:Sipa1l1	UTSW	12	82,487,667 (GRCm39)	missense	probably damaging	1.00
R1563:Sipa1l1	UTSW	12	82,387,935 (GRCm39)	missense	probably benign	0.31
R1671:Sipa1l1	UTSW	12	82,444,235 (GRCm39)	missense	probably damaging	1.00
R1935:Sipa1l1	UTSW	12	82,419,208 (GRCm39)	missense	probably damaging	1.00
R1950:Sipa1l1	UTSW	12	82,388,233 (GRCm39)	missense	probably damaging	0.98
R2191:Sipa1l1	UTSW	12	82,443,465 (GRCm39)	nonsense	probably null
R2249:Sipa1l1	UTSW	12	82,388,890 (GRCm39)	missense	probably benign
R2909:Sipa1l1	UTSW	12	82,404,105 (GRCm39)	missense	probably benign	0.39
R4012:Sipa1l1	UTSW	12	82,388,556 (GRCm39)	missense	possibly damaging	0.86
R4154:Sipa1l1	UTSW	12	82,471,988 (GRCm39)	missense	possibly damaging	0.95
R4382:Sipa1l1	UTSW	12	82,493,596 (GRCm39)	missense	possibly damaging	0.46
R4448:Sipa1l1	UTSW	12	82,388,524 (GRCm39)	missense	probably benign	0.15
R4651:Sipa1l1	UTSW	12	82,469,245 (GRCm39)	nonsense	probably null
R4652:Sipa1l1	UTSW	12	82,469,245 (GRCm39)	nonsense	probably null
R4751:Sipa1l1	UTSW	12	82,387,968 (GRCm39)	missense	probably benign
R4755:Sipa1l1	UTSW	12	82,419,160 (GRCm39)	missense	possibly damaging	0.74
R4888:Sipa1l1	UTSW	12	82,389,107 (GRCm39)	missense	probably damaging	0.96
R4912:Sipa1l1	UTSW	12	82,443,452 (GRCm39)	missense	possibly damaging	0.89
R4937:Sipa1l1	UTSW	12	82,388,103 (GRCm39)	missense	probably benign	0.01
R5068:Sipa1l1	UTSW	12	82,484,601 (GRCm39)	missense	probably damaging	1.00
R5113:Sipa1l1	UTSW	12	82,487,682 (GRCm39)	missense	probably benign	0.11
R5114:Sipa1l1	UTSW	12	82,487,682 (GRCm39)	missense	probably benign	0.11
R5240:Sipa1l1	UTSW	12	82,388,362 (GRCm39)	missense	possibly damaging	0.92
R6041:Sipa1l1	UTSW	12	82,389,024 (GRCm39)	missense	probably damaging	1.00
R6048:Sipa1l1	UTSW	12	82,487,643 (GRCm39)	missense	probably benign	0.03
R6170:Sipa1l1	UTSW	12	82,388,446 (GRCm39)	missense	probably benign	0.18
R6185:Sipa1l1	UTSW	12	82,471,802 (GRCm39)	missense	probably damaging	1.00
R6326:Sipa1l1	UTSW	12	82,419,242 (GRCm39)	missense	probably damaging	1.00
R6842:Sipa1l1	UTSW	12	82,467,320 (GRCm39)	missense	probably benign	0.00
R7008:Sipa1l1	UTSW	12	82,409,886 (GRCm39)	missense	probably damaging	0.99
R7058:Sipa1l1	UTSW	12	82,449,896 (GRCm39)	missense	probably benign	0.00
R7069:Sipa1l1	UTSW	12	82,388,180 (GRCm39)	missense	probably damaging	0.99
R7122:Sipa1l1	UTSW	12	82,469,236 (GRCm39)	missense	possibly damaging	0.79
R7310:Sipa1l1	UTSW	12	82,419,269 (GRCm39)	missense	probably damaging	1.00
R7469:Sipa1l1	UTSW	12	82,467,438 (GRCm39)	critical splice donor site	probably null
R7718:Sipa1l1	UTSW	12	82,389,271 (GRCm39)	missense	probably damaging	1.00
R7787:Sipa1l1	UTSW	12	82,496,762 (GRCm39)	missense	possibly damaging	0.81
R7844:Sipa1l1	UTSW	12	82,444,267 (GRCm39)	missense	probably damaging	1.00
R7893:Sipa1l1	UTSW	12	82,388,342 (GRCm39)	missense	probably benign	0.00
R7953:Sipa1l1	UTSW	12	82,496,700 (GRCm39)	missense	probably damaging	1.00
R8043:Sipa1l1	UTSW	12	82,496,700 (GRCm39)	missense	probably damaging	1.00
R8099:Sipa1l1	UTSW	12	82,480,600 (GRCm39)	missense	probably benign	0.08
R8135:Sipa1l1	UTSW	12	82,388,075 (GRCm39)	missense	probably benign
R8229:Sipa1l1	UTSW	12	82,484,622 (GRCm39)	missense	probably damaging	1.00
R8348:Sipa1l1	UTSW	12	82,443,045 (GRCm39)	missense	probably benign	0.13
R8388:Sipa1l1	UTSW	12	82,216,259 (GRCm39)	unclassified	probably benign
R8693:Sipa1l1	UTSW	12	82,216,517 (GRCm39)	unclassified	probably benign
R8826:Sipa1l1	UTSW	12	82,389,207 (GRCm39)	missense	probably damaging	1.00
R8884:Sipa1l1	UTSW	12	82,409,871 (GRCm39)	missense	probably damaging	0.99
R8940:Sipa1l1	UTSW	12	82,404,040 (GRCm39)	missense	probably damaging	1.00
R8975:Sipa1l1	UTSW	12	82,479,612 (GRCm39)	missense	possibly damaging	0.87
R9145:Sipa1l1	UTSW	12	82,443,335 (GRCm39)	missense	probably benign	0.01
R9328:Sipa1l1	UTSW	12	82,388,792 (GRCm39)	missense	possibly damaging	0.63
R9455:Sipa1l1	UTSW	12	82,434,399 (GRCm39)	missense	probably damaging	1.00
R9486:Sipa1l1	UTSW	12	82,404,139 (GRCm39)	critical splice donor site	probably null
R9631:Sipa1l1	UTSW	12	82,387,776 (GRCm39)	start codon destroyed	probably null	0.39
R9727:Sipa1l1	UTSW	12	82,471,829 (GRCm39)	missense	probably damaging	1.00
R9753:Sipa1l1	UTSW	12	82,463,763 (GRCm39)	missense	possibly damaging	0.93

Posted On

2016-08-02