Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5112 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102616351-102834623 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102726966 bp (GRCm39)

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] [ENSMUST00000183855] [ENSMUST00000156596]

AlphaFold

Q8VD37

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

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156596
AA Change: D58N

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

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

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
Abca2	A	G	2: 25,328,383 (GRCm39)	K846R	probably damaging	Het
Acsbg3	T	A	17: 57,184,465 (GRCm39)	M80K	probably benign	Het
Acsm5	A	G	7: 119,136,502 (GRCm39)	K358E	possibly damaging	Het
Adam26a	A	T	8: 44,021,893 (GRCm39)	D532E	probably benign	Het
Adamts19	C	T	18: 59,164,876 (GRCm39)	R993*	probably null	Het
Akr1c13	A	G	13: 4,244,151 (GRCm39)	K68R	possibly damaging	Het
Amer3	T	A	1: 34,626,157 (GRCm39)	M132K	possibly damaging	Het
Ankrd2	A	G	19: 42,028,326 (GRCm39)	D38G	possibly damaging	Het
Ano7	G	A	1: 93,325,085 (GRCm39)	V546M	possibly damaging	Het
Aox1	G	A	1: 58,349,254 (GRCm39)		probably null	Het
Apc	T	A	18: 34,449,162 (GRCm39)	C1985*	probably null	Het
Astn1	C	T	1: 158,484,763 (GRCm39)	S15F	possibly damaging	Het
Atp13a4	A	T	16: 29,228,686 (GRCm39)	N950K	possibly damaging	Het
Bcl6	A	G	16: 23,791,496 (GRCm39)	V286A	probably benign	Het
Brox	T	A	1: 183,073,541 (GRCm39)	T79S	probably benign	Het
C2cd3	A	T	7: 100,092,692 (GRCm39)	I512F	possibly damaging	Het
Camta1	A	G	4: 151,158,511 (GRCm39)	L542S	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Card10	C	T	15: 78,686,580 (GRCm39)		probably null	Het
Cd96	A	G	16: 45,919,301 (GRCm39)	M240T	probably benign	Het
Cdc123	A	G	2: 5,809,748 (GRCm39)	L221P	possibly damaging	Het
Cdh19	A	G	1: 110,882,354 (GRCm39)	V46A	possibly damaging	Het
Clcn3	G	A	8: 61,407,586 (GRCm39)	H24Y	probably benign	Het
Col11a2	T	C	17: 34,283,062 (GRCm39)		probably benign	Het
Cpsf3	A	T	12: 21,341,785 (GRCm39)	M50L	probably benign	Het
Csf3	T	A	11: 98,593,749 (GRCm39)	L197Q	probably damaging	Het
Ctsw	T	A	19: 5,516,285 (GRCm39)	D196V	probably damaging	Het
Dcun1d3	A	T	7: 119,457,250 (GRCm39)	I154K	probably damaging	Het
Ddr1	T	C	17: 35,993,377 (GRCm39)	T877A	probably benign	Het
Dnah8	T	A	17: 30,950,012 (GRCm39)	L1944I	probably benign	Het
Dpf3	G	T	12: 83,417,385 (GRCm39)	S29*	probably null	Het
Ephb1	A	G	9: 101,848,378 (GRCm39)	I640T	probably damaging	Het
Fat1	G	A	8: 45,477,319 (GRCm39)	G2099S	probably damaging	Het
Fbxo41	G	T	6: 85,454,906 (GRCm39)	N667K	probably damaging	Het
Flacc1	T	C	1: 58,698,441 (GRCm39)	T326A	probably benign	Het
Gart	A	T	16: 91,430,933 (GRCm39)	D376E	probably benign	Het
Glyr1	G	A	16: 4,836,740 (GRCm39)	Q475*	probably null	Het
Gm28051	G	A	12: 102,686,430 (GRCm39)	Q77*	probably null	Het
Gnmt	C	A	17: 47,037,256 (GRCm39)	R176L	probably damaging	Het
Gpr176	A	T	2: 118,110,629 (GRCm39)	V210D	possibly damaging	Het
Gtf2ird1	A	T	5: 134,431,038 (GRCm39)	D339E	probably damaging	Het
Hmbox1	A	G	14: 65,063,061 (GRCm39)	Y372H	probably damaging	Het
Ier2	G	T	8: 85,389,361 (GRCm39)	A7E	probably damaging	Het
Il20ra	A	G	10: 19,634,691 (GRCm39)	T311A	possibly damaging	Het
Il24	T	C	1: 130,811,179 (GRCm39)		probably null	Het
Insl6	G	A	19: 29,298,996 (GRCm39)	Q139*	probably null	Het
Itga2b	A	T	11: 102,349,017 (GRCm39)	I729K	probably damaging	Het
Itpr2	A	T	6: 146,135,489 (GRCm39)	M1814K	possibly damaging	Het
Klhl3	G	A	13: 58,166,703 (GRCm39)	S429F	probably damaging	Het
Lipo2	T	C	19: 33,725,865 (GRCm39)	N129S	probably benign	Het
Lrba	C	T	3: 86,132,678 (GRCm39)	T28M	probably benign	Het
Ly86	G	T	13: 37,559,013 (GRCm39)	G71C	probably damaging	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Mical2	A	G	7: 111,919,818 (GRCm39)	S443G	probably damaging	Het
Mmp17	A	G	5: 129,679,229 (GRCm39)	H376R	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Myo7b	T	C	18: 32,116,640 (GRCm39)	H989R	probably damaging	Het
Neil2	A	G	14: 63,425,909 (GRCm39)	W154R	probably damaging	Het
Nlrp12	G	A	7: 3,289,613 (GRCm39)	H300Y	possibly damaging	Het
Nlrp3	A	T	11: 59,439,554 (GRCm39)	Y377F	probably damaging	Het
Notch2	T	C	3: 98,008,952 (GRCm39)		probably null	Het
Nudcd1	A	T	15: 44,240,039 (GRCm39)	C500*	probably null	Het
Or5b24	T	C	19: 12,912,180 (GRCm39)	V26A	probably benign	Het
Or5d37	A	G	2: 87,923,353 (GRCm39)	V309A	probably damaging	Het
Or8g18	A	G	9: 39,149,717 (GRCm39)	M1T	probably null	Het
Or8h9	A	T	2: 86,789,698 (GRCm39)	Y35N	probably damaging	Het
Pabpc6	T	A	17: 9,888,540 (GRCm39)	S4C	probably damaging	Het
Pan2	C	T	10: 128,151,464 (GRCm39)	R835*	probably null	Het
Parp9	G	A	16: 35,784,683 (GRCm39)	V346I	probably damaging	Het
Pcbp4	C	T	9: 106,337,917 (GRCm39)	T69M	probably damaging	Het
Pclo	T	A	5: 14,727,896 (GRCm39)		probably benign	Het
Phldb3	A	T	7: 24,324,110 (GRCm39)	I495F	possibly damaging	Het
Plce1	G	T	19: 38,640,277 (GRCm39)	V508F	probably benign	Het
Pmpca	A	T	2: 26,285,178 (GRCm39)	I468F	probably damaging	Het
Pmpcb	G	A	5: 21,961,441 (GRCm39)	R399H	probably damaging	Het
Ptprc	A	G	1: 138,022,037 (GRCm39)	S544P	probably damaging	Het
Rev3l	T	A	10: 39,699,326 (GRCm39)	D1274E	probably benign	Het
Ryr3	A	T	2: 112,733,010 (GRCm39)	V612E	probably damaging	Het
Scfd2	G	T	5: 74,366,982 (GRCm39)	H639Q	probably benign	Het
Sell	T	A	1: 163,892,887 (GRCm39)	H34Q	possibly damaging	Het
Setd2	A	G	9: 110,377,226 (GRCm39)	D347G	probably benign	Het
Slc12a1	A	T	2: 125,060,144 (GRCm39)	I940F	possibly damaging	Het
Slc25a34	T	A	4: 141,348,769 (GRCm39)	I232L	probably benign	Het
Slc36a3	T	A	11: 55,039,399 (GRCm39)	K76N	probably damaging	Het
Slc6a15	T	A	10: 103,225,087 (GRCm39)	D58E	probably benign	Het
Slc6a7	T	C	18: 61,140,448 (GRCm39)	S195G	probably null	Het
Svep1	G	A	4: 58,068,610 (GRCm39)	Q3059*	probably null	Het
Syce1l	A	C	8: 114,378,274 (GRCm39)	H56P	probably damaging	Het
Tbc1d2	A	G	4: 46,606,503 (GRCm39)	V814A	probably damaging	Het
Tbx18	T	A	9: 87,597,740 (GRCm39)	I265F	probably damaging	Het
Thbs2	T	C	17: 14,890,852 (GRCm39)		probably null	Het
Ttll1	T	C	15: 83,380,597 (GRCm39)	H256R	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttyh2	A	T	11: 114,587,583 (GRCm39)	T195S	probably benign	Het
Unc119b	A	G	5: 115,263,553 (GRCm39)	L217P	probably damaging	Het
Unc5a	T	C	13: 55,151,231 (GRCm39)		probably null	Het
Usp6nl	A	G	2: 6,425,714 (GRCm39)	K152E	probably benign	Het
Vcam1	T	C	3: 115,910,941 (GRCm39)	R486G	probably benign	Het
Vmn2r1	A	C	3: 63,997,544 (GRCm39)	Q400P	possibly damaging	Het
Vmn2r80	T	A	10: 79,030,292 (GRCm39)	V706D	possibly damaging	Het
Vmn2r87	A	T	10: 130,314,422 (GRCm39)	L388Q	probably damaging	Het
Vwa3a	A	T	7: 120,383,208 (GRCm39)	Y603F	probably damaging	Het
Zfp850	A	T	7: 27,689,658 (GRCm39)	C183*	probably null	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
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

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