Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02706:Sipa1l1'

304342

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 #

IGL02706

Quality Score

Status

Chromosome

Chromosomal Location

82216138-82498560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82444207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 973 (I973V)

Ref Sequence

ENSEMBL: ENSMUSP00000152681 (fasta)

Gene Model

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

AlphaFold

Q8C0T5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053969
AA Change: I973V

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: I973V

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

possibly damaging
Transcript: ENSMUST00000166429
AA Change: I973V

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: I973V

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

possibly damaging
Transcript: ENSMUST00000220963
AA Change: I973V

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222298
AA Change: I973V

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222714
AA Change: I973V

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,517,966 (GRCm39)	E781G	probably benign	Het
Abcc8	C	T	7: 45,816,345 (GRCm39)	R265Q	probably benign	Het
Agtr1b	A	T	3: 20,370,027 (GRCm39)	I193N	probably benign	Het
Atp6v1e2	A	G	17: 87,252,362 (GRCm39)	I12T	probably damaging	Het
Cacna1g	T	C	11: 94,347,818 (GRCm39)	T757A	probably damaging	Het
Cldn15	A	G	5: 137,003,685 (GRCm39)	K200R	probably benign	Het
Dip2b	G	T	15: 100,113,192 (GRCm39)	V1302F	probably damaging	Het
Dnajb6	T	A	5: 29,957,421 (GRCm39)	Y68N	probably damaging	Het
Dok1	T	A	6: 83,009,315 (GRCm39)	E179V	probably damaging	Het
Epha4	T	C	1: 77,403,482 (GRCm39)	T342A	probably damaging	Het
Etf1	A	T	18: 35,064,690 (GRCm39)	S6R	possibly damaging	Het
Fryl	T	C	5: 73,250,506 (GRCm39)	I987V	probably benign	Het
Gba2	C	T	4: 43,567,257 (GRCm39)	G897S	probably benign	Het
Habp2	G	T	19: 56,298,570 (GRCm39)		probably null	Het
Hapln1	G	T	13: 89,753,578 (GRCm39)	S248I	possibly damaging	Het
Hydin	A	G	8: 111,137,198 (GRCm39)	D667G	probably damaging	Het
Kcnma1	T	A	14: 23,359,222 (GRCm39)	H1074L	probably damaging	Het
Kctd9	T	C	14: 67,962,130 (GRCm39)		probably null	Het
L3mbtl4	A	G	17: 68,793,914 (GRCm39)	D306G	probably damaging	Het
Lgalsl	T	C	11: 20,780,090 (GRCm39)	R49G	probably damaging	Het
Lpo	C	T	11: 87,708,599 (GRCm39)	S133N	probably benign	Het
Lrp8	A	T	4: 107,660,516 (GRCm39)	R59*	probably null	Het
Mctp1	T	C	13: 76,971,188 (GRCm39)	F629S	probably damaging	Het
Med1	A	G	11: 98,047,533 (GRCm39)		probably benign	Het
Nbea	T	C	3: 55,944,699 (GRCm39)	H555R	probably damaging	Het
Nedd1	T	C	10: 92,522,147 (GRCm39)	H630R	possibly damaging	Het
Nr3c2	A	T	8: 77,635,045 (GRCm39)		probably null	Het
Nubp2	A	T	17: 25,102,171 (GRCm39)	V267E	probably benign	Het
Oacyl	A	T	18: 65,882,792 (GRCm39)	Y629F	probably damaging	Het
Or1n1b	A	G	2: 36,780,731 (GRCm39)	I43T	probably damaging	Het
Or1x2	T	A	11: 50,918,091 (GRCm39)	H87Q	probably damaging	Het
Or5b119	A	T	19: 13,457,462 (GRCm39)	Y33*	probably null	Het
Pknox2	T	C	9: 36,847,675 (GRCm39)	H114R	probably benign	Het
Ppp2r1b	A	G	9: 50,790,134 (GRCm39)	D564G	possibly damaging	Het
Ppp3ca	T	G	3: 136,611,079 (GRCm39)	N367K	possibly damaging	Het
Ptprn2	T	C	12: 116,852,518 (GRCm39)	V525A	probably damaging	Het
Reps1	T	G	10: 17,998,763 (GRCm39)		probably benign	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Ssh2	T	A	11: 77,344,232 (GRCm39)	V739D	possibly damaging	Het
Tbc1d24	A	G	17: 24,404,395 (GRCm39)	F250L	probably benign	Het
Ube3a	T	A	7: 58,921,881 (GRCm39)	H84Q	possibly damaging	Het
Usp34	T	C	11: 23,338,659 (GRCm39)		probably benign	Het
Zdhhc8	G	T	16: 18,042,758 (GRCm39)	L481I	probably damaging	Het
Zfp574	A	G	7: 24,780,790 (GRCm39)	H604R	probably damaging	Het
Zfp945	A	T	17: 23,076,256 (GRCm39)	M63K	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
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
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

2015-04-16