Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:Sipa1l1'

694594

Institutional Source

Beutler Lab

Gene Symbol

Sipa1l1

Ensembl Gene

ENSMUSG00000042700

Gene Name

signal-induced proliferation-associated 1 like 1

Synonyms

4931426N11Rik, Spar

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82169320-82451786 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82396561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 875 (D875G)

Ref Sequence

ENSEMBL: ENSMUSP00000131030 (fasta)

Gene Model

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

AlphaFold

Q8C0T5

Predicted Effect

probably benign
Transcript: ENSMUST00000053969
AA Change: D875G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: D875G

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

probably benign
Transcript: ENSMUST00000166429
AA Change: D875G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: D875G

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
AA Change: D875G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222298
AA Change: D875G

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000222714
AA Change: D875G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.3950

Coding Region Coverage

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

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,559,069	H720L	probably benign	Het
Abca15	T	C	7: 120,388,165	Y1225H	probably benign	Het
Adck1	C	A	12: 88,368,423	N26K	probably benign	Het
Adcy3	A	G	12: 4,195,208	D382G	probably damaging	Het
Ahi1	T	A	10: 21,000,589	C800S	probably benign	Het
Ahnak	G	T	19: 9,014,923	V4524L	probably benign	Het
Apol11a	C	T	15: 77,513,578	A43V	probably benign	Het
Arid1a	T	C	4: 133,693,903	M479V	unknown	Het
Atp13a2	T	A	4: 140,996,745	C324S	probably damaging	Het
C2cd2	T	G	16: 97,876,286	T413P	probably damaging	Het
Cct5	A	C	15: 31,590,961	D531E		Het
Chst1	A	T	2: 92,614,178	I332F	probably damaging	Het
Col12a1	A	T	9: 79,620,062	V2662D	probably benign	Het
Cts3	A	G	13: 61,564,986	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,121,212		probably benign	Het
Dhx9	A	G	1: 153,461,080	I807T	probably damaging	Het
Doxl2	C	A	6: 48,975,956	R272S	probably benign	Het
Exoc3l4	T	C	12: 111,422,152	L25P	probably benign	Het
Ggcx	T	A	6: 72,425,922	C288S	probably benign	Het
Gjb3	A	G	4: 127,326,347	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,499,337	S201P	probably benign	Het
Helz2	A	T	2: 181,240,055	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,696,250		probably null	Het
Il12a	C	T	3: 68,691,542	R19W	unknown	Het
Isoc1	C	T	18: 58,673,275	A219V	possibly damaging	Het
Jup	T	A	11: 100,378,298	T430S	probably benign	Het
Klra5	C	T	6: 129,909,948	C39Y	probably benign	Het
Map4	A	T	9: 110,026,200	Q131L	probably damaging	Het
Mau2	T	A	8: 70,027,515	K314M	probably damaging	Het
Mga	A	G	2: 119,964,012	M2726V	probably benign	Het
Mgme1	G	A	2: 144,272,485		probably null	Het
Msrb2	A	G	2: 19,394,255	E143G	probably benign	Het
Muc5b	G	T	7: 141,857,613	C1432F	unknown	Het
Naglu	T	C	11: 101,071,114	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,218,367	Y103H	probably benign	Het
Nodal	A	G	10: 61,423,680	N299D	probably damaging	Het
Notch1	T	C	2: 26,459,575	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,572,952	S97A	probably benign	Het
Nuak1	A	T	10: 84,374,723	S500R	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,737,913	E104G	probably benign	Het
Olfr401	C	T	11: 74,121,700	T137I	probably benign	Het
Olfr670	T	A	7: 104,959,997	H245L	probably damaging	Het
Palld	T	C	8: 61,877,073	T257A	probably benign	Het
Pcnx4	C	T	12: 72,556,269	P435L	probably damaging	Het
Piezo1	T	C	8: 122,482,014	T2538A	unknown	Het
Plagl1	T	C	10: 13,128,128	L380P	unknown	Het
Polrmt	G	T	10: 79,740,581	Q514K	probably benign	Het
Psg17	T	G	7: 18,819,926	D133A	probably benign	Het
Rab3b	G	A	4: 108,940,706	D185N	probably benign	Het
Ranbp2	T	A	10: 58,455,914	S248T	probably benign	Het
Rdh10	C	A	1: 16,129,206	A212D	probably damaging	Het
Rinl	A	G	7: 28,795,664	H154R		Het
Selenbp1	T	C	3: 94,944,103	M389T	probably benign	Het
Serpina1c	T	A	12: 103,896,141	H305L	possibly damaging	Het
Sh3rf2	T	A	18: 42,149,681	S467T		Het
Slc10a6	A	T	5: 103,628,934	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,270,355	I577V	possibly damaging	Het
Slc20a2	T	C	8: 22,540,431	F168L	probably benign	Het
Slc25a1	A	T	16: 17,927,244		probably null	Het
Slc5a12	A	G	2: 110,640,897	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,800,932	D42G	possibly damaging	Het
Spag16	G	C	1: 70,381,300	L482F	probably damaging	Het
Susd5	G	A	9: 114,096,221	G391R	probably damaging	Het
Sync	G	T	4: 129,293,825	A217S		Het
Tha1	T	A	11: 117,868,686	N326Y	probably damaging	Het
Tjp1	A	T	7: 65,302,816	F1590Y	probably benign	Het
Tle4	T	C	19: 14,468,219	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024	T2054A	probably damaging	Het
Ttc30a1	A	T	2: 75,980,079	Y553*	probably null	Het
Ttll4	A	G	1: 74,679,790	K267E	probably benign	Het
Usp32	C	T	11: 85,022,292	G930D	probably damaging	Het
Vmn2r75	T	C	7: 86,164,239	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,268,194	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,398		probably benign	Het
Zfp459	C	T	13: 67,408,616	S116N	probably benign	Het
Zfp981	C	A	4: 146,537,953	T445N	possibly damaging	Het

Other mutations in Sipa1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Sipa1l1	APN	12	82387696	missense	probably benign	0.06
IGL01478:Sipa1l1	APN	12	82446898	missense	probably benign	0.00
IGL01620:Sipa1l1	APN	12	82422489	missense	probably damaging	0.97
IGL02496:Sipa1l1	APN	12	82425094	missense	probably damaging	1.00
IGL02550:Sipa1l1	APN	12	82440949	nonsense	probably null
IGL02689:Sipa1l1	APN	12	82440820	missense	probably benign	0.01
IGL02706:Sipa1l1	APN	12	82397433	missense	possibly damaging	0.95
IGL02995:Sipa1l1	APN	12	82357331	missense	probably benign	0.39
IGL03104:Sipa1l1	APN	12	82342130	missense	probably benign	0.05
IGL03295:Sipa1l1	APN	12	82432940	missense	probably damaging	1.00
bullae	UTSW	12	82342250	missense	probably damaging	1.00
bullish	UTSW	12	82422471	nonsense	probably null
ebullient	UTSW	12	82341672	missense	probably benign	0.18
PIT4431001:Sipa1l1	UTSW	12	82396516	missense	probably benign	0.34
R0140:Sipa1l1	UTSW	12	82396200	missense	probably damaging	1.00
R0348:Sipa1l1	UTSW	12	82384756	critical splice donor site	probably null
R0534:Sipa1l1	UTSW	12	82425280	missense	possibly damaging	0.94
R0538:Sipa1l1	UTSW	12	82425099	missense	probably benign	0.00
R0547:Sipa1l1	UTSW	12	82437736	missense	probably benign
R0980:Sipa1l1	UTSW	12	82342220	missense	possibly damaging	0.60
R1051:Sipa1l1	UTSW	12	82449345	missense	possibly damaging	0.48
R1244:Sipa1l1	UTSW	12	82425416	missense	probably benign	0.00
R1473:Sipa1l1	UTSW	12	82341111	missense	probably damaging	1.00
R1508:Sipa1l1	UTSW	12	82440893	missense	probably damaging	1.00
R1563:Sipa1l1	UTSW	12	82341161	missense	probably benign	0.31
R1671:Sipa1l1	UTSW	12	82397461	missense	probably damaging	1.00
R1935:Sipa1l1	UTSW	12	82372434	missense	probably damaging	1.00
R1950:Sipa1l1	UTSW	12	82341459	missense	probably damaging	0.98
R2191:Sipa1l1	UTSW	12	82396691	nonsense	probably null
R2249:Sipa1l1	UTSW	12	82342116	missense	probably benign
R2909:Sipa1l1	UTSW	12	82357331	missense	probably benign	0.39
R4012:Sipa1l1	UTSW	12	82341782	missense	possibly damaging	0.86
R4154:Sipa1l1	UTSW	12	82425214	missense	possibly damaging	0.95
R4382:Sipa1l1	UTSW	12	82446822	missense	possibly damaging	0.46
R4448:Sipa1l1	UTSW	12	82341750	missense	probably benign	0.15
R4651:Sipa1l1	UTSW	12	82422471	nonsense	probably null
R4652:Sipa1l1	UTSW	12	82422471	nonsense	probably null
R4751:Sipa1l1	UTSW	12	82341194	missense	probably benign
R4755:Sipa1l1	UTSW	12	82372386	missense	possibly damaging	0.74
R4888:Sipa1l1	UTSW	12	82342333	missense	probably damaging	0.96
R4912:Sipa1l1	UTSW	12	82396678	missense	possibly damaging	0.89
R4937:Sipa1l1	UTSW	12	82341329	missense	probably benign	0.01
R5068:Sipa1l1	UTSW	12	82437827	missense	probably damaging	1.00
R5113:Sipa1l1	UTSW	12	82440908	missense	probably benign	0.11
R5114:Sipa1l1	UTSW	12	82440908	missense	probably benign	0.11
R5240:Sipa1l1	UTSW	12	82341588	missense	possibly damaging	0.92
R6041:Sipa1l1	UTSW	12	82342250	missense	probably damaging	1.00
R6048:Sipa1l1	UTSW	12	82440869	missense	probably benign	0.03
R6170:Sipa1l1	UTSW	12	82341672	missense	probably benign	0.18
R6185:Sipa1l1	UTSW	12	82425028	missense	probably damaging	1.00
R6326:Sipa1l1	UTSW	12	82372468	missense	probably damaging	1.00
R6842:Sipa1l1	UTSW	12	82420546	missense	probably benign	0.00
R7008:Sipa1l1	UTSW	12	82363112	missense	probably damaging	0.99
R7058:Sipa1l1	UTSW	12	82403122	missense	probably benign	0.00
R7069:Sipa1l1	UTSW	12	82341406	missense	probably damaging	0.99
R7122:Sipa1l1	UTSW	12	82422462	missense	possibly damaging	0.79
R7310:Sipa1l1	UTSW	12	82372495	missense	probably damaging	1.00
R7469:Sipa1l1	UTSW	12	82420664	critical splice donor site	probably null
R7718:Sipa1l1	UTSW	12	82342497	missense	probably damaging	1.00
R7787:Sipa1l1	UTSW	12	82449988	missense	possibly damaging	0.81
R7844:Sipa1l1	UTSW	12	82397493	missense	probably damaging	1.00
R7893:Sipa1l1	UTSW	12	82341568	missense	probably benign	0.00
R7953:Sipa1l1	UTSW	12	82449926	missense	probably damaging	1.00
R8043:Sipa1l1	UTSW	12	82449926	missense	probably damaging	1.00
R8099:Sipa1l1	UTSW	12	82433826	missense	probably benign	0.08
R8135:Sipa1l1	UTSW	12	82341301	missense	probably benign
R8229:Sipa1l1	UTSW	12	82437848	missense	probably damaging	1.00
R8348:Sipa1l1	UTSW	12	82396271	missense	probably benign	0.13
R8388:Sipa1l1	UTSW	12	82169485	unclassified	probably benign
R8693:Sipa1l1	UTSW	12	82169743	unclassified	probably benign
R8826:Sipa1l1	UTSW	12	82342433	missense	probably damaging	1.00
R8884:Sipa1l1	UTSW	12	82363097	missense	probably damaging	0.99
R8940:Sipa1l1	UTSW	12	82357266	missense	probably damaging	1.00
R8975:Sipa1l1	UTSW	12	82432838	missense	possibly damaging	0.87
R9328:Sipa1l1	UTSW	12	82342018	missense	possibly damaging	0.63
R9455:Sipa1l1	UTSW	12	82387625	missense	probably damaging	1.00
R9486:Sipa1l1	UTSW	12	82357365	critical splice donor site	probably null
R9631:Sipa1l1	UTSW	12	82341002	start codon destroyed	probably null	0.39
R9727:Sipa1l1	UTSW	12	82425055	missense	probably damaging	1.00
R9753:Sipa1l1	UTSW	12	82416989	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ATCTGGCAGAAAAGAATGTCACC -3'
(R):5'- ATGGTTACAGCAGTCTCACC -3'

Sequencing Primer
(F):5'- CAACACACCTATTGACCCTTCTGG -3'
(R):5'- CAGTCTCACCTGCAGCC -3'

Posted On

2022-01-20