Mutagenetix > Incidental Mutation

Incidental Mutation 'R4697:Sgip1'

355759

Institutional Source

Beutler Lab

Gene Symbol

Sgip1

Ensembl Gene

ENSMUSG00000028524

Gene Name

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

Synonyms

3110007P09Rik

MMRRC Submission

041947-MU

Accession Numbers

Genbank: NM_144906; MGI: 1920344

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102741297-102973628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102934587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 536 (F536I)

Ref Sequence

ENSEMBL: ENSMUSP00000102495 (fasta)

Gene Model

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

AlphaFold

Q8VD37

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066824
AA Change: F369I

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000063712
Gene: ENSMUSG00000028524
AA Change: F369I

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

probably benign
Transcript: ENSMUST00000072481

SMART Domains

Protein: ENSMUSP00000072301
Gene: ENSMUSG00000028524

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

probably benign
Transcript: ENSMUST00000080728

SMART Domains

Protein: ENSMUSP00000079553
Gene: ENSMUSG00000028524

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

probably damaging
Transcript: ENSMUST00000106882
AA Change: F536I

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

SMART Domains

Protein: ENSMUSP00000102495
Gene: ENSMUSG00000028524
AA Change: F536I

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

unknown
Transcript: ENSMUST00000149547
AA Change: F284I

SMART Domains

Protein: ENSMUSP00000122556
Gene: ENSMUSG00000028524
AA Change: F284I

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

Meta Mutation Damage Score

0.2212

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (75/78)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,791,448	I455N	probably damaging	Het
A2m	T	C	6: 121,638,284	M1T	probably null	Het
Aatf	T	A	11: 84,449,138	D449V	probably damaging	Het
Acbd3	T	A	1: 180,721,944		probably benign	Het
BC005561	A	G	5: 104,522,240	K1543E	probably benign	Het
Bicc1	T	A	10: 70,953,484	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,649,749	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,525,485	V401A	probably damaging	Het
Cux2	T	C	5: 121,873,753	T540A	probably damaging	Het
Disp2	G	T	2: 118,791,684	E966*	probably null	Het
Dpp7	A	G	2: 25,354,919	Y209H	probably benign	Het
Dstyk	T	A	1: 132,449,487	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,694,408		probably null	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Ednra	T	C	8: 77,664,995	H422R	probably benign	Het
Erlec1	T	A	11: 30,952,640	I67F	probably benign	Het
Fam161b	G	A	12: 84,348,558		probably benign	Het
Gata5	A	T	2: 180,327,379	C345*	probably null	Het
Glmp	T	C	3: 88,328,274	V47A	probably damaging	Het
Gm9762	T	A	3: 78,966,550		noncoding transcript	Het
Gnas	A	T	2: 174,298,080	D14V	probably damaging	Het
Gnl3	T	C	14: 31,017,329	S53G	probably damaging	Het
Grhl3	C	T	4: 135,548,466	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,694,187	L281*	probably null	Het
Kif16b	T	G	2: 142,690,694	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,576,846	S204P	probably benign	Het
Klhl40	T	A	9: 121,778,734	I320N	probably damaging	Het
Ksr2	G	A	5: 117,708,147	R693Q	probably damaging	Het
Mis12	A	G	11: 71,025,326	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,974,777	C102R	probably damaging	Het
Muc5b	T	C	7: 141,857,361	I1348T	unknown	Het
Myh7b	A	G	2: 155,629,322	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,901,386	T52A	probably benign	Het
Nxpe2	C	A	9: 48,320,521	V379L	probably benign	Het
Olfr1231	C	A	2: 89,302,902	S230I	possibly damaging	Het
Olfr1231	T	A	2: 89,302,903	S230C	probably damaging	Het
Olfr1448	C	T	19: 12,919,934	C125Y	probably damaging	Het
Olfr1465	A	T	19: 13,313,717	D189E	probably benign	Het
Olfr288	G	A	15: 98,186,868	R310W	probably damaging	Het
Pcdhga7	A	T	18: 37,717,208	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,959,241	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,126,347	V1367A	possibly damaging	Het
Postn	T	A	3: 54,375,071	N484K	probably damaging	Het
Prkd3	C	T	17: 78,961,171	V572I	probably benign	Het
Qser1	T	C	2: 104,787,183	S1005G	probably benign	Het
Radil	G	T	5: 142,486,801	D951E	probably benign	Het
Ripk1	C	T	13: 34,027,942	R352*	probably null	Het
Sacs	T	C	14: 61,212,747	F4081L	probably benign	Het
Sbf1	A	G	15: 89,315,085	V11A	possibly damaging	Het
Slc45a1	A	G	4: 150,638,284	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,052,641	P71L	probably benign	Het
Spns1	T	A	7: 126,377,037	D14V	probably damaging	Het
Sv2c	T	A	13: 95,986,018	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,893,516	M169K	probably benign	Het
Tgm1	A	T	14: 55,705,681	N567K	probably benign	Het
Tln2	C	T	9: 67,395,461	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,853,791	V1340A	probably benign	Het
Tspan18	A	T	2: 93,312,030		probably null	Het
Txndc11	C	T	16: 11,084,314	V679I	probably damaging	Het
Usf1	G	T	1: 171,416,964	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,454,452	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,741,826	I713F	probably damaging	Het
Vmn2r79	A	T	7: 87,037,960	I850F	probably damaging	Het
Wdr90	C	T	17: 25,855,363	R676H	probably benign	Het
Zfp867	G	A	11: 59,463,661	R281W	probably damaging	Het
Zfp939	T	C	7: 39,472,942		noncoding transcript	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
R4725:Sgip1	UTSW	4	102966222	missense	probably damaging	1.00
R4892:Sgip1	UTSW	4	102966234	missense	probably damaging	1.00
R5112:Sgip1	UTSW	4	102869769	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
R8997:Sgip1	UTSW	4	102933584	missense

Predicted Primers

PCR Primer
(F):5'- TTTTCCTGCACGCTAACGGC -3'
(R):5'- TGAGGTCAACTGCAAATCAGC -3'

Sequencing Primer
(F):5'- ACGCTAACGGCATGCAGTG -3'
(R):5'- CATGAAATGCCTTCTTTAGTTCTTG -3'

Posted On

2015-10-21