Mutagenetix > Incidental Mutation

Incidental Mutation 'R7240:Sipa1l2'

563146

Institutional Source

Beutler Lab

Gene Symbol

Sipa1l2

Ensembl Gene

ENSMUSG00000001995

Gene Name

signal-induced proliferation-associated 1 like 2

Synonyms

MMRRC Submission

045347-MU

Accession Numbers

Essential gene?

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

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126144802-126296547 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126196599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 712 (F712L)

Ref Sequence

ENSEMBL: ENSMUSP00000104405 (fasta)

Gene Model

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

AlphaFold

Q80TE4

Predicted Effect

probably damaging
Transcript: ENSMUST00000108775
AA Change: F712L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104405
Gene: ENSMUSG00000001995
AA Change: F712L

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: F712L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212987
AA Change: F712L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,512,382 (GRCm39)	I59T	unknown	Het
Aspm	C	T	1: 139,406,389 (GRCm39)	Q1759*	probably null	Het
Atn1	A	T	6: 124,724,861 (GRCm39)	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ccdc88c	C	T	12: 100,911,198 (GRCm39)	V879M	probably benign	Het
Cd300c	A	G	11: 114,850,609 (GRCm39)	C65R	possibly damaging	Het
Cd69	A	T	6: 129,247,005 (GRCm39)	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,821,137 (GRCm39)	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,210,145 (GRCm39)	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,573,874 (GRCm39)	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,011,052 (GRCm39)	F150L	probably benign	Het
Dsg1c	T	C	18: 20,416,166 (GRCm39)	L689P	probably damaging	Het
Dstyk	G	A	1: 132,381,861 (GRCm39)	M538I	probably benign	Het
E4f1	T	A	17: 24,663,299 (GRCm39)	I669F	probably damaging	Het
Gm7138	T	C	10: 77,612,589 (GRCm39)	T64A	unknown	Het
Gnai2	A	C	9: 107,492,972 (GRCm39)	D310E		Het
Iqca1	A	G	1: 89,998,272 (GRCm39)	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,409,587 (GRCm39)	N249K	probably benign	Het
Lamc1	A	G	1: 153,110,396 (GRCm39)	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,420,582 (GRCm39)	K188E	probably damaging	Het
N4bp2	T	A	5: 65,951,888 (GRCm39)	V431D	probably damaging	Het
Notch4	A	G	17: 34,795,445 (GRCm39)	T792A	probably benign	Het
Ntn4	A	G	10: 93,581,603 (GRCm39)	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,362,317 (GRCm39)	C202R	probably benign	Het
Or10j2	T	C	1: 173,098,561 (GRCm39)	I273T	probably benign	Het
Or2a7	A	G	6: 43,151,435 (GRCm39)	K172E	probably benign	Het
Or5p55	T	C	7: 107,567,395 (GRCm39)	S264P	probably benign	Het
Or5p72	A	G	7: 108,022,140 (GRCm39)	M121V	probably damaging	Het
Or8b55	A	G	9: 38,727,009 (GRCm39)	D70G	probably benign	Het
Or8g24	A	T	9: 38,989,906 (GRCm39)	M45K	probably damaging	Het
Parpbp	G	A	10: 87,960,802 (GRCm39)	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,896,756 (GRCm39)	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,100,830 (GRCm39)	N543S	probably damaging	Het
Puf60	A	G	15: 75,944,388 (GRCm39)		probably benign	Het
Rbm6	A	T	9: 107,730,095 (GRCm39)	D184E	probably damaging	Het
Rnase9	A	C	14: 51,276,436 (GRCm39)	S181A	probably benign	Het
Rnpc3	T	A	3: 113,410,480 (GRCm39)	R270S	probably damaging	Het
Rundc1	T	C	11: 101,322,374 (GRCm39)		probably null	Het
Ryr1	T	C	7: 28,751,440 (GRCm39)	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,299,386 (GRCm39)	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,306,861 (GRCm39)	I31S	probably benign	Het
Slc22a29	A	G	19: 8,138,875 (GRCm39)	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,696,239 (GRCm39)	N58S	probably benign	Het
Tmc2	C	T	2: 130,076,724 (GRCm39)	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,455,544 (GRCm39)	C28R	probably benign	Het
Trbv21	A	T	6: 41,179,892 (GRCm39)	K69N	probably benign	Het
Trpm2	A	G	10: 77,771,710 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,679,334 (GRCm39)	V10796A	unknown	Het
Ush2a	A	G	1: 188,643,858 (GRCm39)	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,672,225 (GRCm39)	H726R	probably benign	Het
Zfp777	A	G	6: 48,021,383 (GRCm39)	S80P	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
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
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
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'- TCAGCCTAGACTATACAGTGGGG -3'
(R):5'- AAGGGCTCTGCTTGTCTCTG -3'

Sequencing Primer
(F):5'- CCTAGACTATACAGTGGGGGAGGG -3'
(R):5'- TGTTCCTTTCTCGGCTGAG -3'

Posted On

2019-06-26