Mutagenetix > Incidental Mutation

Incidental Mutation 'R7154:Sipa1l2'

557150

Institutional Source

Beutler Lab

Gene Symbol

Sipa1l2

Ensembl Gene

ENSMUSG00000001995

Gene Name

signal-induced proliferation-associated 1 like 2

Synonyms

MMRRC Submission

045256-MU

Accession Numbers

Essential gene?

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

Stock #

R7154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126144802-126296547 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126195078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 887 (K887E)

Ref Sequence

ENSEMBL: ENSMUSP00000104405 (fasta)

Gene Model

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

AlphaFold

Q80TE4

Predicted Effect

probably benign
Transcript: ENSMUST00000108775
AA Change: K887E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: K887E

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 benign
Transcript: ENSMUST00000212168
AA Change: K887E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000212987
AA Change: K887E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Meta Mutation Damage Score

0.0715

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030423J24Rik	T	C	13: 71,032,344 (GRCm39)	F139L	unknown	Het
Adgre1	G	A	17: 57,751,087 (GRCm39)		probably null	Het
Agap2	A	G	10: 126,927,524 (GRCm39)	D1135G	probably benign	Het
Akp3	T	C	1: 87,052,946 (GRCm39)	L45P	probably damaging	Het
Arfgap3	A	T	15: 83,220,905 (GRCm39)	W71R	probably damaging	Het
Asic3	G	A	5: 24,618,660 (GRCm39)		probably benign	Het
Asph	A	T	4: 9,630,930 (GRCm39)	N139K	possibly damaging	Het
Atr	T	A	9: 95,747,098 (GRCm39)	C127S	probably benign	Het
Auts2	A	T	5: 131,480,731 (GRCm39)	S255T		Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Cacnb1	A	G	11: 97,895,959 (GRCm39)	L443P	probably damaging	Het
Cbfa2t3	G	A	8: 123,364,883 (GRCm39)	Q300*	probably null	Het
Ccer1	A	T	10: 97,530,201 (GRCm39)	D288V	unknown	Het
Col18a1	G	A	10: 76,908,799 (GRCm39)	P611S	probably benign	Het
Cpa6	T	A	1: 10,407,694 (GRCm39)	D281V	possibly damaging	Het
Cyp2e1	A	G	7: 140,350,050 (GRCm39)	Y245C	probably damaging	Het
Cyp4a31	T	C	4: 115,431,963 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,589,966 (GRCm39)		probably null	Het
Entpd1	T	C	19: 40,713,430 (GRCm39)	Y188H	probably damaging	Het
Epb42	T	C	2: 120,863,843 (GRCm39)	D111G	probably benign	Het
Espl1	A	G	15: 102,232,484 (GRCm39)	D2064G	probably damaging	Het
Fat3	A	C	9: 15,908,160 (GRCm39)	V2614G	probably damaging	Het
Fos	A	T	12: 85,520,931 (GRCm39)	M40L	probably benign	Het
Frmd4b	T	A	6: 97,283,707 (GRCm39)	E434V	probably damaging	Het
Galnt6	A	T	15: 100,591,345 (GRCm39)	D586E	probably benign	Het
Gapvd1	T	C	2: 34,615,075 (GRCm39)	K474R	probably damaging	Het
Gimap8	T	A	6: 48,633,122 (GRCm39)	F314I	probably damaging	Het
Gm14393	T	G	2: 174,903,576 (GRCm39)	K110N	probably damaging	Het
Gm4131	C	A	14: 62,718,382 (GRCm39)	A75S	probably damaging	Het
Heatr6	G	A	11: 83,668,067 (GRCm39)	V854I	probably benign	Het
Hic2	T	A	16: 17,076,806 (GRCm39)	M545K	possibly damaging	Het
Ift70b	C	T	2: 75,768,405 (GRCm39)	R116H	possibly damaging	Het
Ip6k1	A	G	9: 107,922,861 (GRCm39)	Y331C	probably damaging	Het
Kalrn	C	T	16: 34,032,527 (GRCm39)		probably null	Het
Kxd1	T	C	8: 70,968,084 (GRCm39)	K88E	probably damaging	Het
Lrrc37a	A	C	11: 103,393,682 (GRCm39)	V581G	probably benign	Het
Mex3d	A	T	10: 80,222,584 (GRCm39)	V224E		Het
Mtx2	T	A	2: 74,706,762 (GRCm39)	C246S	probably damaging	Het
Mybbp1a	A	G	11: 72,338,468 (GRCm39)		probably null	Het
Myh6	A	G	14: 55,197,764 (GRCm39)	I458T	probably benign	Het
Ndufs6	A	G	13: 73,468,411 (GRCm39)	V96A	possibly damaging	Het
Nemf	A	T	12: 69,363,515 (GRCm39)		probably null	Het
Notch1	T	C	2: 26,349,950 (GRCm39)	S2397G	probably benign	Het
Or4c15b	A	G	2: 89,113,204 (GRCm39)	I91T	probably damaging	Het
Or6ae1	T	C	7: 139,741,997 (GRCm39)	I289V	probably benign	Het
Osbpl1a	T	C	18: 12,901,649 (GRCm39)	E619G	probably benign	Het
Pfkl	T	C	10: 77,837,289 (GRCm39)	R95G	probably benign	Het
Plat	T	A	8: 23,268,521 (GRCm39)	I391K	possibly damaging	Het
Ppp1r21	A	G	17: 88,862,314 (GRCm39)	H244R	probably damaging	Het
Rapgef3	G	C	15: 97,651,758 (GRCm39)	H578Q	probably benign	Het
Rnf145	C	A	11: 44,415,822 (GRCm39)	N12K	probably damaging	Het
Sfxn5	C	T	6: 85,309,405 (GRCm39)	C100Y	unknown	Het
Sh3rf1	T	A	8: 61,825,748 (GRCm39)	L581Q	possibly damaging	Het
Spopfm2	A	G	3: 94,083,526 (GRCm39)	I95T	probably benign	Het
Stard9	C	A	2: 120,531,795 (GRCm39)	T2684N	probably benign	Het
Stard9	A	C	2: 120,535,023 (GRCm39)	Q3760P	probably benign	Het
Stpg2	A	G	3: 138,921,056 (GRCm39)	E87G	probably benign	Het
Syne2	A	G	12: 76,106,231 (GRCm39)	Q792R	possibly damaging	Het
Taf7	T	C	18: 37,775,601 (GRCm39)	D322G	possibly damaging	Het
Tbc1d1	A	G	5: 64,331,156 (GRCm39)	S112G	possibly damaging	Het
Tbx3	A	G	5: 119,810,093 (GRCm39)	M5V	possibly damaging	Het
Tmem45b	A	T	9: 31,339,328 (GRCm39)	I215N	possibly damaging	Het
Tpd52	G	A	3: 9,028,916 (GRCm39)	Q43*	probably null	Het
Trpa1	T	A	1: 14,952,457 (GRCm39)	N858I	possibly damaging	Het
Ttll5	A	G	12: 85,972,538 (GRCm39)	D767G	probably damaging	Het
Vmn2r3	G	A	3: 64,194,732 (GRCm39)	T62I	probably benign	Het
Wdr59	A	T	8: 112,185,367 (GRCm39)	N874K		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
R4106:Sipa1l2	UTSW	8	126,219,047 (GRCm39)	missense	probably damaging	1.00
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
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'- GGAGACACACGCCATACTTACTAG -3'
(R):5'- GCCGAGAACTTTGTCACAACC -3'

Sequencing Primer
(F):5'- ACGCCATACTTACTAGCAGTCGTTG -3'
(R):5'- GTGGACACTTCTGCAAAATTCAGC -3'

Posted On

2019-06-26