Mutagenetix > Incidental Mutation

Incidental Mutation 'R1051:Sipa1l1'

93984

Institutional Source

Beutler Lab

Gene Symbol

Sipa1l1

Ensembl Gene

ENSMUSG00000042700

Gene Name

signal-induced proliferation-associated 1 like 1

Synonyms

Spar, 4931426N11Rik

MMRRC Submission

039141-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1051 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82216138-82498560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82496119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1720 (D1720V)

Ref Sequence

ENSEMBL: ENSMUSP00000152212 (fasta)

Gene Model

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

AlphaFold

Q8C0T5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053969
AA Change: D1720V

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: D1720V

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: D1720V

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: D1720V

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

probably benign
Transcript: ENSMUST00000220963

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222298
AA Change: D1720V

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222714
AA Change: D1720V

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	G	5: 121,764,143 (GRCm39)	S929P	probably damaging	Het
Acot1	T	C	12: 84,056,378 (GRCm39)	V32A	probably damaging	Het
Ank1	G	A	8: 23,583,956 (GRCm39)	G353D	probably damaging	Het
Baiap2l1	T	A	5: 144,222,943 (GRCm39)	H97L	probably damaging	Het
Casp8ap2	C	A	4: 32,640,790 (GRCm39)	P615T	probably benign	Het
Chrng	A	T	1: 87,136,785 (GRCm39)	D218V	possibly damaging	Het
Col5a3	C	A	9: 20,686,531 (GRCm39)	V1365L	unknown	Het
Ddx49	A	G	8: 70,747,335 (GRCm39)		probably null	Het
Dnaaf2	T	C	12: 69,244,569 (GRCm39)	D164G	probably damaging	Het
Eefsec	A	T	6: 88,274,829 (GRCm39)	D378E	probably benign	Het
Farsb	T	C	1: 78,420,287 (GRCm39)	I535V	possibly damaging	Het
Fat1	T	G	8: 45,497,543 (GRCm39)	S4343A	probably damaging	Het
Fbn2	T	C	18: 58,145,425 (GRCm39)	Y2737C	probably damaging	Het
Gtf3c1	T	C	7: 125,306,821 (GRCm39)	E10G	probably damaging	Het
Has1	T	C	17: 18,068,541 (GRCm39)	D271G	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il12rb2	A	G	6: 67,333,719 (GRCm39)	F187L	probably benign	Het
Kdsr	G	A	1: 106,675,310 (GRCm39)	Q109*	probably null	Het
Klb	G	A	5: 65,536,670 (GRCm39)	A667T	probably damaging	Het
Krba1	C	T	6: 48,390,332 (GRCm39)	R704C	possibly damaging	Het
Lenep	A	T	3: 89,309,780 (GRCm39)	I56N	possibly damaging	Het
Lipc	T	C	9: 70,709,398 (GRCm39)	I450V	probably benign	Het
Myh6	T	C	14: 55,186,984 (GRCm39)	N1329S	probably benign	Het
Myo5c	T	A	9: 75,198,165 (GRCm39)	M1330K	probably benign	Het
Myo9b	A	G	8: 71,808,466 (GRCm39)	E1691G	probably damaging	Het
Ninl	C	G	2: 150,812,046 (GRCm39)	E240Q	probably damaging	Het
Nlgn1	T	C	3: 25,966,869 (GRCm39)	S195G	probably damaging	Het
Nlrp4c	A	G	7: 6,068,942 (GRCm39)	E281G	probably benign	Het
Olfm2	T	C	9: 20,579,759 (GRCm39)	T331A	probably damaging	Het
Or1o1	A	T	17: 37,717,341 (GRCm39)	I301F	possibly damaging	Het
Or2d2	T	A	7: 106,728,123 (GRCm39)	D159V	possibly damaging	Het
Or8b9	T	C	9: 37,766,657 (GRCm39)	I181T	probably damaging	Het
Plekhh2	T	C	17: 84,829,255 (GRCm39)		probably null	Het
Pramel4	A	G	4: 143,795,068 (GRCm39)	E485G	possibly damaging	Het
Prss12	A	G	3: 123,279,174 (GRCm39)	D417G	probably null	Het
Rhpn1	A	T	15: 75,584,241 (GRCm39)	Y456F	probably damaging	Het
Rnpc3	C	T	3: 113,423,595 (GRCm39)	E37K	possibly damaging	Het
Rp1l1	T	G	14: 64,269,984 (GRCm39)	L1857V	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sepsecs	C	T	5: 52,822,698 (GRCm39)	A18T	probably damaging	Het
Sgms1	T	A	19: 32,137,439 (GRCm39)	L42F	probably damaging	Het
Slc13a3	A	T	2: 165,250,740 (GRCm39)		probably null	Het
Slc25a40	A	T	5: 8,480,450 (GRCm39)	M67L	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Spesp1	T	C	9: 62,179,924 (GRCm39)	D328G	possibly damaging	Het
Sspo	T	A	6: 48,468,389 (GRCm39)	C4363*	probably null	Het
Tbc1d8	C	T	1: 39,420,534 (GRCm39)	W666*	probably null	Het
Tubgcp2	T	C	7: 139,578,809 (GRCm39)	D721G	probably benign	Het
Vps54	CTTAAT	CT	11: 21,228,001 (GRCm39)		probably null	Het
Wsb1	T	C	11: 79,137,059 (GRCm39)	S113G	probably damaging	Het
Zfp382	T	C	7: 29,833,435 (GRCm39)	F362S	probably damaging	Het
Zfp553	G	T	7: 126,835,977 (GRCm39)	G511*	probably null	Het
Zfp568	C	T	7: 29,721,954 (GRCm39)	Q299*	probably null	Het
Zfp688	G	A	7: 127,018,397 (GRCm39)	P243S	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
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

Predicted Primers

PCR Primer
(F):5'- ACATGCCTCCTGTGCTACCAAAG -3'
(R):5'- TCTATTGCTGCCCTAAACACATGCG -3'

Sequencing Primer
(F):5'- CTCTTTAACAGAGGAAGCTGCTG -3'
(R):5'- GTAAAAACCCAGGCACATCG -3'

Posted On

2014-01-05