Mutagenetix > Incidental Mutations

Incidental Mutation 'R1715:Sgip1'

190918

Institutional Source

Beutler Lab

Gene Symbol

Sgip1

Ensembl Gene

ENSMUSG00000028524

Gene Name

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

Synonyms

3110007P09Rik

MMRRC Submission

039748-MU

Accession Numbers

Genbank: NM_144906; MGI: 1920344

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102741297-102973628 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102915059 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 215 (V215A)

Ref Sequence

ENSEMBL: ENSMUSP00000063712 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000066824
AA Change: V215A

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000063712
Gene: ENSMUSG00000028524
AA Change: V215A

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: V215A

SMART Domains

Protein: ENSMUSP00000072301
Gene: ENSMUSG00000028524
AA Change: V215A

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: V216A

SMART Domains

Protein: ENSMUSP00000079553
Gene: ENSMUSG00000028524
AA Change: V216A

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: V216A

SMART Domains

Protein: ENSMUSP00000102495
Gene: ENSMUSG00000028524
AA Change: V216A

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: V108A

SMART Domains

Protein: ENSMUSP00000122556
Gene: ENSMUSG00000028524
AA Change: V108A

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

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,199,824		probably null	Het
2210010C04Rik	A	G	6: 41,032,936		probably null	Het
2410089E03Rik	T	A	15: 8,226,900		probably null	Het
Abca8a	G	A	11: 110,091,580	T12M	probably damaging	Het
Alms1	T	A	6: 85,629,052	Y2561*	probably null	Het
Atp10a	G	A	7: 58,786,505	V348I	probably damaging	Het
Best2	T	C	8: 85,011,223	Y181C	probably benign	Het
Btaf1	T	A	19: 36,969,121	D442E	probably damaging	Het
C330027C09Rik	C	T	16: 49,005,719	T383I	probably benign	Het
Carmil3	T	G	14: 55,504,532	V1153G	probably benign	Het
Cc2d2a	A	G	5: 43,718,661	I993M	probably damaging	Het
Ccng1	G	A	11: 40,752,114	P169S	probably benign	Het
Cmtr2	T	C	8: 110,222,798	L580P	probably damaging	Het
Col22a1	T	C	15: 72,006,981	E109G	possibly damaging	Het
Crispld2	G	T	8: 120,023,649	W264L	possibly damaging	Het
Cyp2c38	T	C	19: 39,404,795	H276R	probably benign	Het
Dag1	A	T	9: 108,208,715	V409E	possibly damaging	Het
Emc8	T	C	8: 120,658,555	N146S	probably benign	Het
Glt8d1	T	C	14: 31,011,521	V321A	possibly damaging	Het
Gm5174	C	T	10: 86,656,912		noncoding transcript	Het
Hdac10	G	T	15: 89,126,709		probably null	Het
Hectd4	A	G	5: 121,344,818	D3144G	possibly damaging	Het
Ifna11	C	T	4: 88,820,236	S93L	probably damaging	Het
Il16	T	C	7: 83,648,728	N431S	probably benign	Het
Irf8	A	T	8: 120,754,388	E237V	probably damaging	Het
Lrp1b	A	G	2: 41,185,981	Y1769H	probably damaging	Het
Lrrc9	A	G	12: 72,477,299	N761D	probably damaging	Het
Mbtps1	T	C	8: 119,542,730	Y207C	probably benign	Het
Myo9a	A	G	9: 59,832,300	E765G	probably damaging	Het
Nlrp3	A	G	11: 59,543,351	D80G	probably damaging	Het
Olfr361	G	A	2: 37,085,176	P191S	probably damaging	Het
Olfr697	G	C	7: 106,741,548	P129A	probably damaging	Het
Olfr830	A	T	9: 18,875,794	I156F	probably benign	Het
Pcyt2	T	A	11: 120,615,851		probably null	Het
Plxnd1	T	C	6: 115,968,681	T944A	probably benign	Het
Psd4	A	T	2: 24,405,332	I833F	probably damaging	Het
Psmd7	A	G	8: 107,581,185	I222T	probably benign	Het
Rap2b	A	G	3: 61,365,190	E45G	probably damaging	Het
Rbm22	T	C	18: 60,560,844	S7P	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rfx4	A	G	10: 84,844,280	N107S	probably damaging	Het
Ripk2	T	A	4: 16,155,192		probably null	Het
Rpgrip1	T	A	14: 52,140,691	C499S	possibly damaging	Het
Scarf1	T	C	11: 75,524,044	S515P	probably damaging	Het
Sis	T	C	3: 72,889,010	I1813V	possibly damaging	Het
Slc17a3	A	T	13: 23,856,741	T317S	probably benign	Het
Slc35e1	T	C	8: 72,483,977	N340S	probably benign	Het
Smg6	A	G	11: 74,929,430	I176V	probably benign	Het
Smim17	T	C	7: 6,429,326	L89S	probably damaging	Het
Synm	T	C	7: 67,736,303	N95S	probably damaging	Het
Tdrd9	A	G	12: 112,036,439	K841E	possibly damaging	Het
Tep1	G	T	14: 50,854,567	F570L	possibly damaging	Het
Tgm3	G	A	2: 130,026,814		probably null	Het
Tra2b	T	C	16: 22,252,746	Y128C	possibly damaging	Het
Vmn2r17	T	C	5: 109,428,244	V327A	probably benign	Het
Wdr20rt	A	T	12: 65,227,314	D344V	probably damaging	Het
Zfp940	A	G	7: 29,844,938	C515R	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCCTTAGGTGACCAACCAGGAAG -3'
(R):5'- AGGGGCTACCTCAAGTCTAACTGTG -3'

Sequencing Primer
(F):5'- CCAACCAGGAAGAAAATGTAGGTTC -3'
(R):5'- CAGCTTAGAGAACCTGATCTAGTCTG -3'

Posted On

2014-05-14