Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01348:Sgip1'

75192

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sgip1

Ensembl Gene

ENSMUSG00000028524

Gene Name

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

Synonyms

3110007P09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01348

Quality Score

Status

Chromosome

Chromosomal Location

102616351-102834623 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to T at 102772353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8VD37

Predicted Effect

probably null
Transcript: ENSMUST00000066824

SMART Domains

Protein: ENSMUSP00000063712
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	391	658	5.9e-79	PFAM
Pfam:Adap_comp_sub	469	650	1.9e-9	PFAM

Predicted Effect

probably null
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 null
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 null
Transcript: ENSMUST00000106882

SMART Domains

Protein: ENSMUSP00000102495
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	558	825	1.7e-74	PFAM
Pfam:Adap_comp_sub	657	809	1.2e-9	PFAM

Predicted Effect

probably null
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 benign
Transcript: ENSMUST00000183855

SMART Domains

Protein: ENSMUSP00000139337
Gene: ENSMUSG00000028524

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

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,467,213 (GRCm39)	E140G	probably null	Het
Adgrl3	A	G	5: 81,874,570 (GRCm39)	T956A	probably damaging	Het
Aff4	G	A	11: 53,293,327 (GRCm39)	S772N	probably benign	Het
Ark2n	A	G	18: 77,761,613 (GRCm39)	I233T	possibly damaging	Het
Atad5	A	G	11: 79,986,390 (GRCm39)	I492M	probably benign	Het
Atf4	T	C	15: 80,140,728 (GRCm39)		probably benign	Het
Atrip	A	G	9: 108,898,363 (GRCm39)	S219P	probably damaging	Het
Axl	G	A	7: 25,462,734 (GRCm39)	R656W	probably damaging	Het
B3gnt3	T	A	8: 72,145,648 (GRCm39)	Q240L	possibly damaging	Het
Baz2b	A	G	2: 59,764,031 (GRCm39)	V915A	possibly damaging	Het
Cacna1s	T	C	1: 136,002,890 (GRCm39)	V329A	possibly damaging	Het
Celf3	C	A	3: 94,395,535 (GRCm39)	Q388K	possibly damaging	Het
Ciita	T	C	16: 10,328,591 (GRCm39)	S292P	probably damaging	Het
Cip2a	A	G	16: 48,833,551 (GRCm39)	I551V	probably damaging	Het
Clec18a	G	A	8: 111,798,245 (GRCm39)	A423V	probably damaging	Het
Clnk	T	C	5: 38,870,550 (GRCm39)	D336G	probably damaging	Het
Csmd1	T	G	8: 15,960,596 (GRCm39)	H3273P	probably damaging	Het
Cyp3a11	A	T	5: 145,805,817 (GRCm39)	V157E	possibly damaging	Het
Dcp1b	T	C	6: 119,160,679 (GRCm39)	I87T	probably damaging	Het
Ell3	A	G	2: 121,272,277 (GRCm39)	S66P	probably damaging	Het
Ercc4	T	C	16: 12,950,798 (GRCm39)	F631L	probably damaging	Het
Etl4	T	A	2: 20,811,784 (GRCm39)	V1289D	probably damaging	Het
Gm16372	T	C	12: 24,543,606 (GRCm39)		probably benign	Het
Gm4553	C	T	7: 141,718,909 (GRCm39)	C173Y	unknown	Het
Gvin-ps5	T	A	7: 105,929,042 (GRCm39)	H285L	unknown	Het
Gykl1	A	T	18: 52,827,808 (GRCm39)	I339F	possibly damaging	Het
H60b	A	C	10: 22,162,078 (GRCm39)	N101T	possibly damaging	Het
Inpp4a	C	T	1: 37,427,986 (GRCm39)	T407I	probably damaging	Het
Itga11	A	G	9: 62,651,861 (GRCm39)	N331S	possibly damaging	Het
Kbtbd6	T	A	14: 79,690,783 (GRCm39)	C430S	probably damaging	Het
Mfsd4a	T	C	1: 131,995,564 (GRCm39)	S1G	probably null	Het
Mybpc2	C	A	7: 44,165,352 (GRCm39)	M372I	probably benign	Het
Myh10	A	T	11: 68,702,629 (GRCm39)	T1768S	probably benign	Het
Myh8	A	G	11: 67,188,606 (GRCm39)	K1063E	probably damaging	Het
Nat8f5	A	T	6: 85,794,862 (GRCm39)	F33I	probably damaging	Het
Nbeal2	T	G	9: 110,458,214 (GRCm39)	N2119T	probably damaging	Het
Nek11	C	T	9: 105,270,112 (GRCm39)	G37S	probably damaging	Het
Npc1l1	T	C	11: 6,177,974 (GRCm39)	N479D	probably damaging	Het
Nup160	A	G	2: 90,530,772 (GRCm39)	T477A	probably benign	Het
Or10al5	A	T	17: 38,063,177 (GRCm39)	H144L	probably benign	Het
Or5h18	T	A	16: 58,848,157 (GRCm39)	T38S	probably damaging	Het
Pcgf2	A	G	11: 97,581,066 (GRCm39)	V259A	probably benign	Het
Pmm1	A	G	15: 81,836,219 (GRCm39)	V131A	probably damaging	Het
Polr3a	A	T	14: 24,511,831 (GRCm39)	D908E	probably damaging	Het
Psg29	A	C	7: 16,944,598 (GRCm39)	R369S	probably benign	Het
Ptprq	T	A	10: 107,547,765 (GRCm39)	D211V	probably damaging	Het
Rdh9	A	G	10: 127,612,661 (GRCm39)	N103S	probably benign	Het
Riok3	T	C	18: 12,286,020 (GRCm39)		probably benign	Het
Serpinb1b	A	T	13: 33,275,398 (GRCm39)	Q174H	probably benign	Het
Sgpp1	A	T	12: 75,781,767 (GRCm39)	Y191N	probably damaging	Het
Slc12a1	A	G	2: 125,036,051 (GRCm39)	N641S	probably damaging	Het
Slc5a4b	T	C	10: 75,906,422 (GRCm39)	N399S	probably damaging	Het
Snx16	C	T	3: 10,484,219 (GRCm39)	A335T	probably damaging	Het
Sos2	C	T	12: 69,664,866 (GRCm39)	R355H	probably damaging	Het
Szt2	A	G	4: 118,250,821 (GRCm39)		probably benign	Het
Tbcd	T	A	11: 121,387,902 (GRCm39)	D344E	probably benign	Het
Tek	C	A	4: 94,747,895 (GRCm39)	Q988K	probably damaging	Het
Tgm6	A	G	2: 129,979,299 (GRCm39)	D143G	probably damaging	Het
Tpx2	A	G	2: 152,735,511 (GRCm39)	K713R	probably damaging	Het
Trappc9	T	A	15: 72,808,858 (GRCm39)	E556V	possibly damaging	Het
Trpm6	A	T	19: 18,855,015 (GRCm39)	K1891N	probably damaging	Het
Trpv1	G	A	11: 73,129,078 (GRCm39)		probably null	Het
Usp37	T	C	1: 74,500,861 (GRCm39)	S567G	probably damaging	Het
Zfp773	A	T	7: 7,138,314 (GRCm39)	V107D	possibly damaging	Het

Other mutations in Sgip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00847:Sgip1	APN	4	102,786,118 (GRCm39)	splice site	probably benign
IGL01446:Sgip1	APN	4	102,786,110 (GRCm39)	critical splice donor site	probably null
IGL01937:Sgip1	APN	4	102,823,439 (GRCm39)	missense	probably damaging	1.00
IGL01945:Sgip1	APN	4	102,823,439 (GRCm39)	missense	probably damaging	1.00
IGL02249:Sgip1	APN	4	102,768,667 (GRCm39)	missense	probably benign	0.40
IGL03232:Sgip1	APN	4	102,772,251 (GRCm39)	splice site	probably benign
3-1:Sgip1	UTSW	4	102,824,860 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Sgip1	UTSW	4	102,778,280 (GRCm39)	missense	unknown
R0309:Sgip1	UTSW	4	102,772,354 (GRCm39)	splice site	probably benign
R0689:Sgip1	UTSW	4	102,823,449 (GRCm39)	missense	probably damaging	1.00
R1563:Sgip1	UTSW	4	102,823,457 (GRCm39)	missense	probably benign	0.38
R1715:Sgip1	UTSW	4	102,772,256 (GRCm39)	missense	probably benign	0.09
R1899:Sgip1	UTSW	4	102,825,534 (GRCm39)	critical splice donor site	probably null
R2286:Sgip1	UTSW	4	102,724,844 (GRCm39)	missense	possibly damaging	0.95
R2372:Sgip1	UTSW	4	102,766,988 (GRCm39)	critical splice donor site	probably null
R3836:Sgip1	UTSW	4	102,724,897 (GRCm39)	splice site	probably null
R4670:Sgip1	UTSW	4	102,726,951 (GRCm39)	missense	probably damaging	1.00
R4697:Sgip1	UTSW	4	102,791,784 (GRCm39)	missense	probably damaging	1.00
R4725:Sgip1	UTSW	4	102,823,419 (GRCm39)	missense	probably damaging	1.00
R4892:Sgip1	UTSW	4	102,823,431 (GRCm39)	missense	probably damaging	1.00
R5112:Sgip1	UTSW	4	102,726,966 (GRCm39)	missense	probably damaging	1.00
R5236:Sgip1	UTSW	4	102,784,784 (GRCm39)	critical splice donor site	probably null
R5285:Sgip1	UTSW	4	102,778,674 (GRCm39)	unclassified	probably benign
R5323:Sgip1	UTSW	4	102,823,477 (GRCm39)	missense	probably damaging	1.00
R5384:Sgip1	UTSW	4	102,791,763 (GRCm39)	missense	possibly damaging	0.46
R5386:Sgip1	UTSW	4	102,772,256 (GRCm39)	missense	probably benign	0.09
R5682:Sgip1	UTSW	4	102,824,847 (GRCm39)	missense	possibly damaging	0.88
R6226:Sgip1	UTSW	4	102,823,392 (GRCm39)	missense	probably damaging	1.00
R6371:Sgip1	UTSW	4	102,823,482 (GRCm39)	missense	probably damaging	1.00
R6594:Sgip1	UTSW	4	102,819,676 (GRCm39)	missense	probably damaging	0.98
R6656:Sgip1	UTSW	4	102,762,765 (GRCm39)	intron	probably benign
R6800:Sgip1	UTSW	4	102,778,225 (GRCm39)	unclassified	probably benign
R6855:Sgip1	UTSW	4	102,819,573 (GRCm39)	missense	probably damaging	0.99
R6917:Sgip1	UTSW	4	102,825,388 (GRCm39)	missense	probably damaging	1.00
R7340:Sgip1	UTSW	4	102,778,661 (GRCm39)	missense	unknown
R7414:Sgip1	UTSW	4	102,824,821 (GRCm39)	nonsense	probably null
R7612:Sgip1	UTSW	4	102,727,005 (GRCm39)	missense	probably benign	0.28
R7936:Sgip1	UTSW	4	102,786,097 (GRCm39)	missense	possibly damaging	0.66
R7944:Sgip1	UTSW	4	102,772,298 (GRCm39)	missense	probably benign
R7976:Sgip1	UTSW	4	102,757,736 (GRCm39)	critical splice donor site	probably null
R8508:Sgip1	UTSW	4	102,772,268 (GRCm39)	missense	probably benign	0.14
R8997:Sgip1	UTSW	4	102,790,781 (GRCm39)	missense

Posted On

2013-10-07