Mutagenetix > Incidental Mutation

Incidental Mutation 'R4106:Sipa1l2'

321395

Institutional Source

Beutler Lab

Gene Symbol

Sipa1l2

Ensembl Gene

ENSMUSG00000001995

Gene Name

signal-induced proliferation-associated 1 like 2

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

R4106 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126144802-126296547 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126219047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 97 (K97E)

Ref Sequence

ENSEMBL: ENSMUSP00000148557 (fasta)

Gene Model

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

AlphaFold

Q80TE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000108775
AA Change: K97E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: K97E

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 damaging
Transcript: ENSMUST00000212168
AA Change: K97E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212987
AA Change: K97E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	G	T	5: 121,769,527 (GRCm39)	S643Y	probably damaging	Het
Acox3	T	C	5: 35,758,896 (GRCm39)	F369S	probably damaging	Het
Cacna1a	A	G	8: 85,310,324 (GRCm39)	I1461V	possibly damaging	Het
Cdc42bpb	A	C	12: 111,261,579 (GRCm39)	V107G	probably benign	Het
Cdhr4	A	G	9: 107,873,459 (GRCm39)	D397G	probably damaging	Het
Chd1l	T	C	3: 97,505,019 (GRCm39)	T183A	probably benign	Het
Cnbd2	T	C	2: 156,177,318 (GRCm39)	V92A	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyp2j7	T	C	4: 96,087,687 (GRCm39)	T408A	possibly damaging	Het
H2-T24	A	G	17: 36,328,370 (GRCm39)	S38P	possibly damaging	Het
Mapkapk3	A	G	9: 107,134,265 (GRCm39)	V333A	probably damaging	Het
Muc5ac	T	G	7: 141,356,572 (GRCm39)	V1053G	possibly damaging	Het
Myh1	T	C	11: 67,102,403 (GRCm39)	V898A	probably benign	Het
Nnt	T	C	13: 119,533,327 (GRCm39)	I113V	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or5d38	A	T	2: 87,954,817 (GRCm39)	C171S	possibly damaging	Het
Rpl10a	T	A	17: 28,549,933 (GRCm39)	Y205N	probably benign	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Scn3a	A	G	2: 65,325,379 (GRCm39)	I1046T	probably benign	Het
Sertad4	AGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGA	1: 192,529,050 (GRCm39)		probably benign	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc22a6	A	G	19: 8,595,874 (GRCm39)	Q72R	probably benign	Het
St8sia2	A	C	7: 73,610,509 (GRCm39)	L258R	probably damaging	Het
Tas1r2	G	A	4: 139,387,363 (GRCm39)	R245H	probably benign	Het
Tcerg1l	A	G	7: 137,861,673 (GRCm39)	V352A	probably damaging	Het
Tpo	G	A	12: 30,142,585 (GRCm39)	P713L	probably damaging	Het
Tpp2	T	C	1: 44,040,617 (GRCm39)	Y293H	possibly damaging	Het
Ttn	G	C	2: 76,581,215 (GRCm39)	A23226G	probably damaging	Het
Ttn	C	T	2: 76,608,809 (GRCm39)	V15990I	probably benign	Het

Other mutations in Sipa1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Sipa1l2	APN	8	126,218,545 (GRCm39)	missense	probably damaging	1.00
IGL00939:Sipa1l2	APN	8	126,191,174 (GRCm39)	splice site	probably benign
IGL00965:Sipa1l2	APN	8	126,174,613 (GRCm39)	missense	probably benign	0.02
IGL01321:Sipa1l2	APN	8	126,218,257 (GRCm39)	missense	probably damaging	1.00
IGL01450:Sipa1l2	APN	8	126,149,316 (GRCm39)	critical splice donor site	probably null
IGL01753:Sipa1l2	APN	8	126,180,031 (GRCm39)	splice site	probably benign
IGL01930:Sipa1l2	APN	8	126,145,978 (GRCm39)	missense	probably damaging	0.99
IGL02041:Sipa1l2	APN	8	126,218,558 (GRCm39)	missense	probably benign	0.03
IGL02215:Sipa1l2	APN	8	126,174,576 (GRCm39)	missense	possibly damaging	0.67
IGL02272:Sipa1l2	APN	8	126,218,750 (GRCm39)	missense	probably damaging	1.00
IGL02370:Sipa1l2	APN	8	126,207,008 (GRCm39)	missense	probably damaging	1.00
IGL02538:Sipa1l2	APN	8	126,178,716 (GRCm39)	missense	probably damaging	1.00
IGL02633:Sipa1l2	APN	8	126,174,507 (GRCm39)	missense	probably damaging	1.00
IGL03394:Sipa1l2	APN	8	126,218,398 (GRCm39)	missense	possibly damaging	0.67
Rebellious	UTSW	8	126,195,078 (GRCm39)	missense	probably benign	0.01
R0144:Sipa1l2	UTSW	8	126,176,615 (GRCm39)	splice site	probably null
R0153:Sipa1l2	UTSW	8	126,148,637 (GRCm39)	missense	probably damaging	0.99
R0276:Sipa1l2	UTSW	8	126,148,679 (GRCm39)	missense	probably damaging	1.00
R0318:Sipa1l2	UTSW	8	126,174,436 (GRCm39)	missense	possibly damaging	0.73
R0373:Sipa1l2	UTSW	8	126,191,149 (GRCm39)	missense	probably damaging	0.99
R0427:Sipa1l2	UTSW	8	126,207,071 (GRCm39)	missense	probably damaging	1.00
R0634:Sipa1l2	UTSW	8	126,149,363 (GRCm39)	nonsense	probably null
R1377:Sipa1l2	UTSW	8	126,218,716 (GRCm39)	missense	probably damaging	1.00
R1404:Sipa1l2	UTSW	8	126,176,712 (GRCm39)	missense	probably damaging	1.00
R1404:Sipa1l2	UTSW	8	126,176,712 (GRCm39)	missense	probably damaging	1.00
R1435:Sipa1l2	UTSW	8	126,195,464 (GRCm39)	missense	probably damaging	1.00
R1523:Sipa1l2	UTSW	8	126,174,352 (GRCm39)	missense	possibly damaging	0.75
R1577:Sipa1l2	UTSW	8	126,219,001 (GRCm39)	missense	probably benign	0.00
R1581:Sipa1l2	UTSW	8	126,218,356 (GRCm39)	missense	probably damaging	0.96
R1583:Sipa1l2	UTSW	8	126,148,634 (GRCm39)	missense	probably damaging	0.97
R1719:Sipa1l2	UTSW	8	126,171,274 (GRCm39)	missense	probably damaging	0.99
R1730:Sipa1l2	UTSW	8	126,206,880 (GRCm39)	splice site	probably null
R1940:Sipa1l2	UTSW	8	126,206,887 (GRCm39)	splice site	probably benign
R2007:Sipa1l2	UTSW	8	126,166,176 (GRCm39)	missense	probably damaging	1.00
R2141:Sipa1l2	UTSW	8	126,218,230 (GRCm39)	missense	probably benign	0.07
R2203:Sipa1l2	UTSW	8	126,218,366 (GRCm39)	missense	probably damaging	0.99
R2764:Sipa1l2	UTSW	8	126,219,113 (GRCm39)	missense	probably damaging	0.99
R3722:Sipa1l2	UTSW	8	126,200,323 (GRCm39)	missense	probably damaging	1.00
R3787:Sipa1l2	UTSW	8	126,177,122 (GRCm39)	missense	possibly damaging	0.52
R3787:Sipa1l2	UTSW	8	126,149,944 (GRCm39)	missense	probably benign
R4117:Sipa1l2	UTSW	8	126,195,249 (GRCm39)	missense	probably damaging	1.00
R4194:Sipa1l2	UTSW	8	126,218,411 (GRCm39)	missense	probably benign	0.00
R4237:Sipa1l2	UTSW	8	126,218,395 (GRCm39)	missense	probably benign	0.44
R4240:Sipa1l2	UTSW	8	126,218,395 (GRCm39)	missense	probably benign	0.44
R4448:Sipa1l2	UTSW	8	126,219,094 (GRCm39)	missense	probably damaging	1.00
R4515:Sipa1l2	UTSW	8	126,218,965 (GRCm39)	missense	probably benign	0.00
R4519:Sipa1l2	UTSW	8	126,218,965 (GRCm39)	missense	probably benign	0.00
R4523:Sipa1l2	UTSW	8	126,219,163 (GRCm39)	missense	probably damaging	1.00
R4557:Sipa1l2	UTSW	8	126,191,154 (GRCm39)	missense	probably damaging	0.98
R4667:Sipa1l2	UTSW	8	126,180,209 (GRCm39)	missense	possibly damaging	0.93
R4687:Sipa1l2	UTSW	8	126,217,984 (GRCm39)	missense	probably damaging	1.00
R4854:Sipa1l2	UTSW	8	126,200,340 (GRCm39)	missense	probably damaging	1.00
R4890:Sipa1l2	UTSW	8	126,218,606 (GRCm39)	missense	probably damaging	1.00
R5065:Sipa1l2	UTSW	8	126,218,324 (GRCm39)	missense	probably benign	0.19
R5194:Sipa1l2	UTSW	8	126,166,012 (GRCm39)	missense	possibly damaging	0.48
R5266:Sipa1l2	UTSW	8	126,218,865 (GRCm39)	missense	probably damaging	0.99
R5475:Sipa1l2	UTSW	8	126,218,334 (GRCm39)	missense	probably damaging	1.00
R5718:Sipa1l2	UTSW	8	126,217,987 (GRCm39)	missense	probably damaging	1.00
R5910:Sipa1l2	UTSW	8	126,218,423 (GRCm39)	missense	probably benign	0.42
R5916:Sipa1l2	UTSW	8	126,195,312 (GRCm39)	missense	probably damaging	1.00
R5941:Sipa1l2	UTSW	8	126,200,275 (GRCm39)	missense	probably damaging	0.99
R6083:Sipa1l2	UTSW	8	126,195,212 (GRCm39)	missense	possibly damaging	0.87
R6185:Sipa1l2	UTSW	8	126,194,992 (GRCm39)	nonsense	probably null
R6235:Sipa1l2	UTSW	8	126,201,610 (GRCm39)	missense	probably damaging	1.00
R6274:Sipa1l2	UTSW	8	126,196,611 (GRCm39)	missense	probably damaging	1.00
R6299:Sipa1l2	UTSW	8	126,180,203 (GRCm39)	missense	possibly damaging	0.75
R6374:Sipa1l2	UTSW	8	126,171,369 (GRCm39)	missense	probably damaging	1.00
R6459:Sipa1l2	UTSW	8	126,171,223 (GRCm39)	critical splice donor site	probably null
R6462:Sipa1l2	UTSW	8	126,217,969 (GRCm39)	missense	probably damaging	1.00
R6496:Sipa1l2	UTSW	8	126,176,633 (GRCm39)	missense	probably benign	0.00
R6543:Sipa1l2	UTSW	8	126,177,101 (GRCm39)	missense	possibly damaging	0.50
R7154:Sipa1l2	UTSW	8	126,195,078 (GRCm39)	missense	probably benign	0.01
R7192:Sipa1l2	UTSW	8	126,149,348 (GRCm39)	missense	probably benign	0.09
R7240:Sipa1l2	UTSW	8	126,196,599 (GRCm39)	missense	probably damaging	1.00
R7361:Sipa1l2	UTSW	8	126,180,071 (GRCm39)	missense	probably damaging	1.00
R7383:Sipa1l2	UTSW	8	126,174,385 (GRCm39)	missense	probably damaging	1.00
R7417:Sipa1l2	UTSW	8	126,208,845 (GRCm39)	missense	possibly damaging	0.93
R7604:Sipa1l2	UTSW	8	126,146,011 (GRCm39)	missense	probably benign	0.45
R7658:Sipa1l2	UTSW	8	126,219,029 (GRCm39)	missense	probably benign	0.00
R7743:Sipa1l2	UTSW	8	126,190,972 (GRCm39)	missense	probably damaging	1.00
R7781:Sipa1l2	UTSW	8	126,218,566 (GRCm39)	missense	possibly damaging	0.46
R7812:Sipa1l2	UTSW	8	126,218,334 (GRCm39)	missense	probably damaging	1.00
R7829:Sipa1l2	UTSW	8	126,178,727 (GRCm39)	missense	probably damaging	1.00
R7880:Sipa1l2	UTSW	8	126,191,132 (GRCm39)	missense	probably damaging	1.00
R7884:Sipa1l2	UTSW	8	126,174,337 (GRCm39)	missense	probably benign
R8057:Sipa1l2	UTSW	8	126,195,269 (GRCm39)	missense	probably damaging	1.00
R8082:Sipa1l2	UTSW	8	126,218,548 (GRCm39)	missense	possibly damaging	0.82
R8092:Sipa1l2	UTSW	8	126,145,907 (GRCm39)	missense	probably benign	0.03
R8247:Sipa1l2	UTSW	8	126,149,372 (GRCm39)	missense	probably benign	0.29
R8252:Sipa1l2	UTSW	8	126,195,410 (GRCm39)	missense	probably damaging	1.00
R8386:Sipa1l2	UTSW	8	126,218,832 (GRCm39)	missense	probably damaging	1.00
R8466:Sipa1l2	UTSW	8	126,218,985 (GRCm39)	missense	probably damaging	1.00
R8697:Sipa1l2	UTSW	8	126,208,855 (GRCm39)	missense	probably damaging	1.00
R8725:Sipa1l2	UTSW	8	126,177,125 (GRCm39)	missense	probably benign	0.28
R8727:Sipa1l2	UTSW	8	126,177,125 (GRCm39)	missense	probably benign	0.28
R9048:Sipa1l2	UTSW	8	126,174,465 (GRCm39)	missense	possibly damaging	0.59
R9224:Sipa1l2	UTSW	8	126,218,716 (GRCm39)	missense	probably damaging	1.00
R9279:Sipa1l2	UTSW	8	126,208,896 (GRCm39)	missense	probably damaging	1.00
R9392:Sipa1l2	UTSW	8	126,194,960 (GRCm39)	missense	probably benign
R9574:Sipa1l2	UTSW	8	126,169,453 (GRCm39)	missense	probably benign
R9591:Sipa1l2	UTSW	8	126,219,112 (GRCm39)	missense	probably damaging	0.99
R9614:Sipa1l2	UTSW	8	126,196,565 (GRCm39)	missense	probably null	0.01
R9690:Sipa1l2	UTSW	8	126,218,996 (GRCm39)	missense	probably benign
X0027:Sipa1l2	UTSW	8	126,218,875 (GRCm39)	missense	probably damaging	1.00
Z1177:Sipa1l2	UTSW	8	126,174,295 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- CCTCCGTATCGATATCACTGATGG -3'
(R):5'- ATCAATGGCAGCATGGGACC -3'

Sequencing Primer
(F):5'- ATGGTGATGTCACTGTTGCTCCTC -3'
(R):5'- GCATGGGACCTGCTACTTTAAAC -3'

Posted On

2015-06-12