Mutagenetix > Incidental Mutation

Incidental Mutation 'R5285:Sgip1'

402973

Institutional Source

Beutler Lab

Gene Symbol

Sgip1

Ensembl Gene

ENSMUSG00000028524

Gene Name

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

Synonyms

3110007P09Rik

MMRRC Submission

042869-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102616351-102834623 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 102778674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139337 (fasta)

Gene Model

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

AlphaFold

Q8VD37

Predicted Effect

probably benign
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 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

unknown
Transcript: ENSMUST00000080728
AA Change: S424T

SMART Domains

Protein: ENSMUSP00000079553
Gene: ENSMUSG00000028524
AA Change: S424T

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

unknown
Transcript: ENSMUST00000106882
AA Change: S424T

SMART Domains

Protein: ENSMUSP00000102495
Gene: ENSMUSG00000028524
AA Change: S424T

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: ENSMUST00000131431

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 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

Meta Mutation Damage Score

0.0612

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (65/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,435,097 (GRCm39)	T12A	probably benign	Het
Acbd6	T	A	1: 155,434,471 (GRCm39)	S30T	probably benign	Het
Adcy8	G	T	15: 64,639,706 (GRCm39)	H685N	possibly damaging	Het
Aldh1l1	A	T	6: 90,553,752 (GRCm39)	K539*	probably null	Het
Ap1m2	G	T	9: 21,216,933 (GRCm39)	Y134*	probably null	Het
Apobr	A	G	7: 126,184,175 (GRCm39)		probably benign	Het
Atl1	A	G	12: 70,001,273 (GRCm39)	K345R	probably benign	Het
Avil	T	C	10: 126,854,328 (GRCm39)	L765P	probably damaging	Het
Caps2	T	A	10: 112,044,216 (GRCm39)	Y472N	probably benign	Het
Catspere2	A	G	1: 177,931,454 (GRCm39)	K458E	unknown	Het
Cd177	A	T	7: 24,445,674 (GRCm39)	S590T	probably benign	Het
Cep295	T	C	9: 15,233,887 (GRCm39)	D2223G	probably benign	Het
Cfh	T	C	1: 140,028,636 (GRCm39)	T493A	probably benign	Het
Chek1	T	C	9: 36,625,748 (GRCm39)	D299G	probably benign	Het
Cpox	G	A	16: 58,495,649 (GRCm39)	G322D	probably damaging	Het
Crhr1	A	T	11: 104,061,323 (GRCm39)	I243F	possibly damaging	Het
Cyp3a11	A	G	5: 145,791,893 (GRCm39)	V500A	probably benign	Het
Dcdc5	A	T	2: 106,198,500 (GRCm39)		noncoding transcript	Het
Ergic3	A	G	2: 155,859,957 (GRCm39)		probably benign	Het
Fabp3-ps1	T	G	10: 86,568,066 (GRCm39)		probably benign	Het
Gm6445	C	A	19: 9,585,032 (GRCm39)		noncoding transcript	Het
Gucy2d	C	A	7: 98,107,474 (GRCm39)		probably null	Het
Ighv1-19-1	C	A	12: 114,667,872 (GRCm39)		probably benign	Het
Igkv2-116	G	T	6: 68,129,463 (GRCm39)	R75L	probably benign	Het
Inhbc	C	A	10: 127,193,269 (GRCm39)	R249L	probably damaging	Het
Lrrn2	T	A	1: 132,866,983 (GRCm39)	S683T	possibly damaging	Het
Lyst	T	C	13: 13,809,011 (GRCm39)	V227A	probably benign	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Msh4	T	C	3: 153,579,350 (GRCm39)	N587S	probably benign	Het
Mug1	G	A	6: 121,818,066 (GRCm39)	E126K	probably benign	Het
Nav2	T	C	7: 49,197,982 (GRCm39)	S1204P	probably damaging	Het
Ncor1	A	G	11: 62,283,475 (GRCm39)	I413T	probably damaging	Het
Nipa2	A	T	7: 55,582,760 (GRCm39)	Y328*	probably null	Het
Or1e25	T	A	11: 73,493,767 (GRCm39)	Y120*	probably null	Het
Or51a24	A	G	7: 103,733,340 (GRCm39)	*316R	probably null	Het
Or52s1	C	T	7: 102,862,005 (GRCm39)	R302*	probably null	Het
Or5k15	A	T	16: 58,710,471 (GRCm39)	Y37*	probably null	Het
Or5k3	T	C	16: 58,969,633 (GRCm39)	L140P	probably damaging	Het
Pla2g4e	T	C	2: 120,019,985 (GRCm39)	D155G	probably damaging	Het
Plxnb1	C	T	9: 108,937,527 (GRCm39)	T1176I	probably damaging	Het
Polg	A	G	7: 79,114,973 (GRCm39)		probably benign	Het
Prl8a2	G	A	13: 27,534,116 (GRCm39)		probably null	Het
Prmt7	G	A	8: 106,974,991 (GRCm39)	R529Q	probably benign	Het
Psg17	T	A	7: 18,554,126 (GRCm39)	L41F	probably benign	Het
Rad18	T	C	6: 112,663,726 (GRCm39)	R73G	probably benign	Het
Rhpn2	G	T	7: 35,080,990 (GRCm39)		probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sarm1	A	G	11: 78,388,265 (GRCm39)	F7S	probably benign	Het
Sh3gl2	A	G	4: 85,294,686 (GRCm39)	K99R	probably benign	Het
Sorbs1	G	A	19: 40,310,334 (GRCm39)	T1018I	probably damaging	Het
Spns2	G	A	11: 72,380,305 (GRCm39)	A106V	possibly damaging	Het
Stab1	A	G	14: 30,865,433 (GRCm39)		probably benign	Het
Steap3	T	C	1: 120,169,610 (GRCm39)	D191G	probably damaging	Het
Stxbp5	T	C	10: 9,674,019 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,034,191 (GRCm39)		probably null	Het
Tm6sf1	A	G	7: 81,509,200 (GRCm39)	S2G	possibly damaging	Het
Usp24	T	A	4: 106,264,230 (GRCm39)	D1720E	probably benign	Het
Vmn1r200	G	A	13: 22,579,457 (GRCm39)	E78K	possibly damaging	Het
Vmn2r120	A	G	17: 57,843,703 (GRCm39)	L47P	probably damaging	Het
Vmn2r14	T	C	5: 109,365,442 (GRCm39)	N544S	probably damaging	Het
Vwa1	C	T	4: 155,855,352 (GRCm39)	A254T	probably benign	Het
Zfp7	G	A	15: 76,775,422 (GRCm39)	R488Q	probably damaging	Het
Zfp940	A	T	7: 29,545,025 (GRCm39)	L294H	probably 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
IGL01348:Sgip1	APN	4	102,772,353 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGCATCAGACATCCCAGCTG -3'
(R):5'- TCAACGGACTAGAACATGCC -3'

Sequencing Primer
(F):5'- TGACTCCCCAGCTCCAG -3'
(R):5'- CGGACTAGAACATGCCACAGG -3'

Posted On

2016-07-22