Mutagenetix > Incidental Mutations

Incidental Mutation 'R5112:Sgip1'

393914

Institutional Source

Beutler Lab

Gene Symbol

Sgip1

Ensembl Gene

ENSMUSG00000028524

Gene Name

SH3-domain GRB2-like (endophilin) interacting protein 1

Synonyms

3110007P09Rik

MMRRC Submission

042700-MU

Accession Numbers

Genbank: NM_144906; MGI: 1920344

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5112 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102741297-102973628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102869769 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 81 (D81N)

Ref Sequence

ENSEMBL: ENSMUSP00000063712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066824] [ENSMUST00000072481] [ENSMUST00000080728] [ENSMUST00000106882] [ENSMUST00000156596] [ENSMUST00000183855]

Predicted Effect

probably damaging
Transcript: ENSMUST00000066824
AA Change: D81N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063712
Gene: ENSMUSG00000028524
AA Change: D81N

Domain	Start	End	E-Value	Type
low complexity region	51	62	N/A	INTRINSIC
low complexity region	102	112	N/A	INTRINSIC
low complexity region	148	160	N/A	INTRINSIC
low complexity region	241	262	N/A	INTRINSIC
low complexity region	281	308	N/A	INTRINSIC
low complexity region	313	330	N/A	INTRINSIC
low complexity region	332	353	N/A	INTRINSIC
Pfam:muHD	391	658	5.9e-79	PFAM
Pfam:Adap_comp_sub	469	650	1.9e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000072481
AA Change: D81N

SMART Domains

Protein: ENSMUSP00000072301
Gene: ENSMUSG00000028524
AA Change: D81N

Domain	Start	End	E-Value	Type
low complexity region	51	62	N/A	INTRINSIC
low complexity region	102	112	N/A	INTRINSIC
low complexity region	148	160	N/A	INTRINSIC
low complexity region	241	262	N/A	INTRINSIC
low complexity region	281	308	N/A	INTRINSIC
low complexity region	313	330	N/A	INTRINSIC
low complexity region	332	353	N/A	INTRINSIC
Pfam:muHD	371	638	5.5e-79	PFAM
Pfam:Adap_comp_sub	449	630	1.8e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000080728
AA Change: D82N

SMART Domains

Protein: ENSMUSP00000079553
Gene: ENSMUSG00000028524
AA Change: D82N

Domain	Start	End	E-Value	Type
low complexity region	52	63	N/A	INTRINSIC
low complexity region	103	113	N/A	INTRINSIC
low complexity region	149	161	N/A	INTRINSIC
low complexity region	242	263	N/A	INTRINSIC
low complexity region	335	366	N/A	INTRINSIC
low complexity region	423	443	N/A	INTRINSIC
low complexity region	448	475	N/A	INTRINSIC
low complexity region	480	497	N/A	INTRINSIC
low complexity region	499	520	N/A	INTRINSIC
Pfam:muHD	538	805	9e-79	PFAM
Pfam:Adap_comp_sub	617	797	2.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097948

SMART Domains

Protein: ENSMUSP00000095560
Gene: ENSMUSG00000028524

Domain	Start	End	E-Value	Type
low complexity region	52	63	N/A	INTRINSIC
low complexity region	103	113	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000106882
AA Change: D82N

SMART Domains

Protein: ENSMUSP00000102495
Gene: ENSMUSG00000028524
AA Change: D82N

Domain	Start	End	E-Value	Type
low complexity region	52	63	N/A	INTRINSIC
low complexity region	103	113	N/A	INTRINSIC
low complexity region	149	161	N/A	INTRINSIC
low complexity region	242	263	N/A	INTRINSIC
low complexity region	335	366	N/A	INTRINSIC
low complexity region	423	443	N/A	INTRINSIC
low complexity region	448	475	N/A	INTRINSIC
low complexity region	480	497	N/A	INTRINSIC
low complexity region	499	520	N/A	INTRINSIC
Pfam:muHD	558	825	1.7e-74	PFAM
Pfam:Adap_comp_sub	657	809	1.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142430

Predicted Effect

probably benign
Transcript: ENSMUST00000149547

SMART Domains

Protein: ENSMUSP00000122556
Gene: ENSMUSG00000028524

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
low complexity region	135	156	N/A	INTRINSIC
low complexity region	175	202	N/A	INTRINSIC
low complexity region	207	224	N/A	INTRINSIC
low complexity region	226	247	N/A	INTRINSIC
Pfam:muHD	307	574	3.9e-75	PFAM
Pfam:Adap_comp_sub	404	558	3.2e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000156596
AA Change: D58N

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

Predicted Effect

unknown
Transcript: ENSMUST00000183855
AA Change: D82N

SMART Domains

Protein: ENSMUSP00000139337
Gene: ENSMUSG00000028524
AA Change: D82N

Domain	Start	End	E-Value	Type
low complexity region	52	63	N/A	INTRINSIC
low complexity region	103	113	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,877,465	M80K	probably benign	Het
Abca2	A	G	2: 25,438,371	K846R	probably damaging	Het
Acsm5	A	G	7: 119,537,279	K358E	possibly damaging	Het
Adam26a	A	T	8: 43,568,856	D532E	probably benign	Het
Adamts19	C	T	18: 59,031,804	R993*	probably null	Het
Akr1c13	A	G	13: 4,194,152	K68R	possibly damaging	Het
Als2cr12	T	C	1: 58,659,282	T326A	probably benign	Het
Amer3	T	A	1: 34,587,076	M132K	possibly damaging	Het
Ankrd2	A	G	19: 42,039,887	D38G	possibly damaging	Het
Ano7	G	A	1: 93,397,363	V546M	possibly damaging	Het
Aox2	G	A	1: 58,310,095		probably null	Het
Apc	T	A	18: 34,316,109	C1985*	probably null	Het
Astn1	C	T	1: 158,657,193	S15F	possibly damaging	Het
Atp13a4	A	T	16: 29,409,868	N950K	possibly damaging	Het
Bcl6	A	G	16: 23,972,746	V286A	probably benign	Het
Brox	T	A	1: 183,291,977	T79S	probably benign	Het
C2cd3	A	T	7: 100,443,485	I512F	possibly damaging	Het
Camta1	A	G	4: 151,074,054	L542S	probably damaging	Het
Capn13	GCA	G	17: 73,351,506		probably null	Het
Card10	C	T	15: 78,802,380		probably null	Het
Cd96	A	G	16: 46,098,938	M240T	probably benign	Het
Cdc123	A	G	2: 5,804,937	L221P	possibly damaging	Het
Cdh19	A	G	1: 110,954,624	V46A	possibly damaging	Het
Clcn3	G	A	8: 60,954,552	H24Y	probably benign	Het
Col11a2	T	C	17: 34,064,088		probably benign	Het
Cpsf3	A	T	12: 21,291,784	M50L	probably benign	Het
Csf3	T	A	11: 98,702,923	L197Q	probably damaging	Het
Ctsw	T	A	19: 5,466,257	D196V	probably damaging	Het
Dcun1d3	A	T	7: 119,858,027	I154K	probably damaging	Het
Ddr1	T	C	17: 35,682,485	T877A	probably benign	Het
Dnah8	T	A	17: 30,731,038	L1944I	probably benign	Het
Dpf3	G	T	12: 83,370,611	S29*	probably null	Het
Ephb1	A	G	9: 101,971,179	I640T	probably damaging	Het
Fat1	G	A	8: 45,024,282	G2099S	probably damaging	Het
Fbxo41	G	T	6: 85,477,924	N667K	probably damaging	Het
Gart	A	T	16: 91,634,045	D376E	probably benign	Het
Glyr1	G	A	16: 5,018,876	Q475*	probably null	Het
Gm28051	G	A	12: 102,720,171	Q77*	probably null	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gnmt	C	A	17: 46,726,330	R176L	probably damaging	Het
Gpr176	A	T	2: 118,280,148	V210D	possibly damaging	Het
Gtf2ird1	A	T	5: 134,402,184	D339E	probably damaging	Het
Hmbox1	A	G	14: 64,825,612	Y372H	probably damaging	Het
Ier2	G	T	8: 84,662,732	A7E	probably damaging	Het
Il20ra	A	G	10: 19,758,943	T311A	possibly damaging	Het
Il24	T	C	1: 130,883,442		probably null	Het
Insl6	G	A	19: 29,321,596	Q139*	probably null	Het
Itga2b	A	T	11: 102,458,191	I729K	probably damaging	Het
Itpr2	A	T	6: 146,233,991	M1814K	possibly damaging	Het
Klhl3	G	A	13: 58,018,889	S429F	probably damaging	Het
Lipo2	T	C	19: 33,748,465	N129S	probably benign	Het
Lrba	C	T	3: 86,225,371	T28M	probably benign	Het
Ly86	G	T	13: 37,375,037	G71C	probably damaging	Het
Maob	T	C	X: 16,716,423	T400A	probably benign	Het
Mical2	A	G	7: 112,320,611	S443G	probably damaging	Het
Mmp17	A	G	5: 129,602,165	H376R	possibly damaging	Het
Myo7b	T	C	18: 31,983,587	H989R	probably damaging	Het
Neil2	A	G	14: 63,188,460	W154R	probably damaging	Het
Nlrp12	G	A	7: 3,240,983	H300Y	possibly damaging	Het
Nlrp3	A	T	11: 59,548,728	Y377F	probably damaging	Het
Notch2	T	C	3: 98,101,636		probably null	Het
Nudcd1	A	T	15: 44,376,643	C500*	probably null	Het
Olfr1099	A	T	2: 86,959,354	Y35N	probably damaging	Het
Olfr1164	A	G	2: 88,093,009	V309A	probably damaging	Het
Olfr1449	T	C	19: 12,934,816	V26A	probably benign	Het
Olfr1537	A	G	9: 39,238,421	M1T	probably null	Het
Pabpc6	T	A	17: 9,669,611	S4C	probably damaging	Het
Pan2	C	T	10: 128,315,595	R835*	probably null	Het
Parp9	G	A	16: 35,964,313	V346I	probably damaging	Het
Pcbp4	C	T	9: 106,460,718	T69M	probably damaging	Het
Pclo	T	A	5: 14,677,882		probably benign	Het
Phldb3	A	T	7: 24,624,685	I495F	possibly damaging	Het
Plce1	G	T	19: 38,651,833	V508F	probably benign	Het
Pmpca	A	T	2: 26,395,166	I468F	probably damaging	Het
Pmpcb	G	A	5: 21,756,443	R399H	probably damaging	Het
Ptprc	A	G	1: 138,094,299	S544P	probably damaging	Het
Rev3l	T	A	10: 39,823,330	D1274E	probably benign	Het
Ryr3	A	T	2: 112,902,665	V612E	probably damaging	Het
Scfd2	G	T	5: 74,206,321	H639Q	probably benign	Het
Sell	T	A	1: 164,065,318	H34Q	possibly damaging	Het
Setd2	A	G	9: 110,548,158	D347G	probably benign	Het
Slc12a1	A	T	2: 125,218,224	I940F	possibly damaging	Het
Slc25a34	T	A	4: 141,621,458	I232L	probably benign	Het
Slc36a3	T	A	11: 55,148,573	K76N	probably damaging	Het
Slc6a15	T	A	10: 103,389,226	D58E	probably benign	Het
Slc6a7	T	C	18: 61,007,376	S195G	probably null	Het
Svep1	G	A	4: 58,068,610	Q3059*	probably null	Het
Syce1l	A	C	8: 113,651,642	H56P	probably damaging	Het
Tbc1d2	A	G	4: 46,606,503	V814A	probably damaging	Het
Tbx18	T	A	9: 87,715,687	I265F	probably damaging	Het
Thbs2	T	C	17: 14,670,590		probably null	Het
Ttll1	T	C	15: 83,496,396	H256R	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttyh2	A	T	11: 114,696,757	T195S	probably benign	Het
Unc119b	A	G	5: 115,125,494	L217P	probably damaging	Het
Unc5a	T	C	13: 55,003,418		probably null	Het
Usp6nl	A	G	2: 6,420,903	K152E	probably benign	Het
Vcam1	T	C	3: 116,117,292	R486G	probably benign	Het
Vmn2r1	A	C	3: 64,090,123	Q400P	possibly damaging	Het
Vmn2r80	T	A	10: 79,194,458	V706D	possibly damaging	Het
Vmn2r87	A	T	10: 130,478,553	L388Q	probably damaging	Het
Vwa3a	A	T	7: 120,783,985	Y603F	probably damaging	Het
Zfp850	A	T	7: 27,990,233	C183*	probably null	Het

Other mutations in Sgip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00847:Sgip1	APN	4	102928921	splice site	probably benign
IGL01348:Sgip1	APN	4	102915156	splice site	probably null
IGL01446:Sgip1	APN	4	102928913	critical splice donor site	probably null
IGL01937:Sgip1	APN	4	102966242	missense	probably damaging	1.00
IGL01945:Sgip1	APN	4	102966242	missense	probably damaging	1.00
IGL02249:Sgip1	APN	4	102911470	missense	probably benign	0.40
IGL03232:Sgip1	APN	4	102915054	splice site	probably benign
3-1:Sgip1	UTSW	4	102967663	missense	probably damaging	1.00
PIT4378001:Sgip1	UTSW	4	102921083	missense	unknown
R0309:Sgip1	UTSW	4	102915157	splice site	probably benign
R0689:Sgip1	UTSW	4	102966252	missense	probably damaging	1.00
R1563:Sgip1	UTSW	4	102966260	missense	probably benign	0.38
R1715:Sgip1	UTSW	4	102915059	missense	probably benign	0.09
R1899:Sgip1	UTSW	4	102968337	critical splice donor site	probably null
R2286:Sgip1	UTSW	4	102867647	missense	possibly damaging	0.95
R2372:Sgip1	UTSW	4	102909791	critical splice donor site	probably null
R3836:Sgip1	UTSW	4	102867700	splice site	probably null
R4670:Sgip1	UTSW	4	102869754	missense	probably damaging	1.00
R4697:Sgip1	UTSW	4	102934587	missense	probably damaging	1.00
R4725:Sgip1	UTSW	4	102966222	missense	probably damaging	1.00
R4892:Sgip1	UTSW	4	102966234	missense	probably damaging	1.00
R5236:Sgip1	UTSW	4	102927587	critical splice donor site	probably null
R5285:Sgip1	UTSW	4	102921477	unclassified	probably benign
R5323:Sgip1	UTSW	4	102966280	missense	probably damaging	1.00
R5384:Sgip1	UTSW	4	102934566	missense	possibly damaging	0.46
R5386:Sgip1	UTSW	4	102915059	missense	probably benign	0.09
R5682:Sgip1	UTSW	4	102967650	missense	possibly damaging	0.88
R6226:Sgip1	UTSW	4	102966195	missense	probably damaging	1.00
R6371:Sgip1	UTSW	4	102966285	missense	probably damaging	1.00
R6594:Sgip1	UTSW	4	102962479	missense	probably damaging	0.98
R6656:Sgip1	UTSW	4	102905568	intron	probably benign
R6800:Sgip1	UTSW	4	102921028	unclassified	probably benign
R6855:Sgip1	UTSW	4	102962376	missense	probably damaging	0.99
R6917:Sgip1	UTSW	4	102968191	missense	probably damaging	1.00
R7340:Sgip1	UTSW	4	102921464	missense	unknown
R7414:Sgip1	UTSW	4	102967624	nonsense	probably null
R7612:Sgip1	UTSW	4	102869808	missense	probably benign	0.28
R7936:Sgip1	UTSW	4	102928900	missense	possibly damaging	0.66
R7944:Sgip1	UTSW	4	102915101	missense	probably benign
R7976:Sgip1	UTSW	4	102900539	critical splice donor site	probably null
R8508:Sgip1	UTSW	4	102915071	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GCCCTTTAAACTAAGAGGCTGG -3'
(R):5'- CCTCGGGGAGAATTATTCATCTC -3'

Sequencing Primer
(F):5'- GAAAACATTTCCTCCATCATTTTGG -3'
(R):5'- CGGGGAGAATTATTCATCTCTGAGAC -3'

Posted On

2016-06-15