Mutagenetix > Incidental Mutation

Incidental Mutation 'R2909:Sipa1l1'

261148

Institutional Source

Beutler Lab

Gene Symbol

Sipa1l1

Ensembl Gene

ENSMUSG00000042700

Gene Name

signal-induced proliferation-associated 1 like 1

Synonyms

Spar, 4931426N11Rik

MMRRC Submission

040496-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82216138-82498560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82404105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 533 (Y533N)

Ref Sequence

ENSEMBL: ENSMUSP00000152681 (fasta)

Gene Model

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

AlphaFold

Q8C0T5

Predicted Effect

probably benign
Transcript: ENSMUST00000053969
AA Change: Y533N

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: Y533N

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 benign
Transcript: ENSMUST00000166429
AA Change: Y533N

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: Y533N

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

noncoding transcript
Transcript: ENSMUST00000220766

Predicted Effect

probably benign
Transcript: ENSMUST00000220963
AA Change: Y533N

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000222298
AA Change: Y533N

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000222714
AA Change: Y533N

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr5	G	A	2: 158,467,140 (GRCm39)	G27R	possibly damaging	Het
Bltp1	A	G	3: 37,002,102 (GRCm39)	D1349G	probably damaging	Het
Chrm3	G	T	13: 9,928,033 (GRCm39)	D334E	probably benign	Het
Clic5	A	C	17: 44,586,146 (GRCm39)	T212P	probably benign	Het
Dapk1	G	A	13: 60,864,631 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,049,114 (GRCm39)	L3262H	probably damaging	Het
Epg5	G	C	18: 78,026,691 (GRCm39)	W1227C	probably damaging	Het
Fancm	T	C	12: 65,171,630 (GRCm39)	S1757P	probably damaging	Het
Gm3604	G	C	13: 62,516,832 (GRCm39)	H509D	probably benign	Het
Gramd4	G	T	15: 86,006,384 (GRCm39)	E163*	probably null	Het
Hip1r	T	A	5: 124,138,656 (GRCm39)		probably null	Het
Ice1	G	T	13: 70,744,292 (GRCm39)	T2097K	probably damaging	Het
Il12a	TCAC	TC	3: 68,605,320 (GRCm39)		probably null	Het
Kbtbd7	A	G	14: 79,665,922 (GRCm39)	T585A	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnq3	T	C	15: 65,897,085 (GRCm39)	T272A	possibly damaging	Het
Ly6l	T	G	15: 75,321,481 (GRCm39)		probably null	Het
Minar1	T	C	9: 89,473,331 (GRCm39)	N860S	probably damaging	Het
Mrps11	C	A	7: 78,438,497 (GRCm39)	A83E	probably damaging	Het
Or1af1	C	T	2: 37,110,188 (GRCm39)	P229L	probably damaging	Het
Pax7	T	C	4: 139,556,007 (GRCm39)	I156V	possibly damaging	Het
Plbd1	A	T	6: 136,611,572 (GRCm39)	V235D	probably damaging	Het
Pml	T	C	9: 58,154,526 (GRCm39)	S76G	possibly damaging	Het
Ppp1r42	T	A	1: 10,073,637 (GRCm39)		probably benign	Het
Rsl24d1	T	C	9: 73,029,585 (GRCm39)	L61S	probably damaging	Het
Rtp2	T	C	16: 23,746,235 (GRCm39)	E132G	probably damaging	Het
Sgk1	A	G	10: 21,870,715 (GRCm39)	I23V	probably benign	Het
Sharpin	A	G	15: 76,234,811 (GRCm39)		probably benign	Het
Slc12a9	T	C	5: 137,330,463 (GRCm39)	I81V	probably benign	Het
Stxbp5l	G	A	16: 37,028,548 (GRCm39)	T505M	possibly damaging	Het
Tmem40	A	G	6: 115,713,342 (GRCm39)		probably null	Het
Tnfrsf18	A	T	4: 156,112,727 (GRCm39)	N138Y	probably damaging	Het
Vmn2r87	A	T	10: 130,314,865 (GRCm39)	N240K	probably damaging	Het
Vmn2r91	A	G	17: 18,356,661 (GRCm39)	E776G	probably damaging	Het
Vmn2r92	T	A	17: 18,405,377 (GRCm39)	N840K	possibly damaging	Het
Vmn2r98	T	C	17: 19,287,664 (GRCm39)	I499T	probably 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
IGL03295:Sipa1l1	APN	12	82,479,714 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGATCTTGAACCCGAAGAG -3'
(R):5'- AAGAACAGATCCCTCTTCCGAG -3'

Sequencing Primer
(F):5'- TGATCTTGAACCCGAAGAGAATATG -3'
(R):5'- TCTAGCTAGAATGCTCCAGGGATC -3'

Posted On

2015-01-23