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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102616351-102834623 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102791784 bp (GRCm39)

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
A2m	T	C	6: 121,615,243 (GRCm39)	M1T	probably null	Het
Aatf	T	A	11: 84,339,964 (GRCm39)	D449V	probably damaging	Het
Acbd3	T	A	1: 180,549,509 (GRCm39)		probably benign	Het
Bicc1	T	A	10: 70,789,314 (GRCm39)	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,467,613 (GRCm39)	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,502,446 (GRCm39)	V401A	probably damaging	Het
Cux2	T	C	5: 122,011,816 (GRCm39)	T540A	probably damaging	Het
Disp2	G	T	2: 118,622,165 (GRCm39)	E966*	probably null	Het
Dpp7	A	G	2: 25,244,931 (GRCm39)	Y209H	probably benign	Het
Dstyk	T	A	1: 132,377,225 (GRCm39)	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,832,473 (GRCm39)		probably null	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Ednra	T	C	8: 78,391,624 (GRCm39)	H422R	probably benign	Het
Erlec1	T	A	11: 30,902,640 (GRCm39)	I67F	probably benign	Het
Fam161b	G	A	12: 84,395,332 (GRCm39)		probably benign	Het
Gata5	A	T	2: 179,969,172 (GRCm39)	C345*	probably null	Het
Glmp	T	C	3: 88,235,581 (GRCm39)	V47A	probably damaging	Het
Gm9762	T	A	3: 78,873,857 (GRCm39)		noncoding transcript	Het
Gnas	A	T	2: 174,139,873 (GRCm39)	D14V	probably damaging	Het
Gnl3	T	C	14: 30,739,286 (GRCm39)	S53G	probably damaging	Het
Grhl3	C	T	4: 135,275,777 (GRCm39)	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,524,531 (GRCm39)	L281*	probably null	Het
Kif16b	T	G	2: 142,532,614 (GRCm39)	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,467,672 (GRCm39)	S204P	probably benign	Het
Klhl40	T	A	9: 121,607,800 (GRCm39)	I320N	probably damaging	Het
Ksr2	G	A	5: 117,846,212 (GRCm39)	R693Q	probably damaging	Het
Mis12	A	G	11: 70,916,152 (GRCm39)	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,858,980 (GRCm39)	C102R	probably damaging	Het
Muc5b	T	C	7: 141,411,098 (GRCm39)	I1348T	unknown	Het
Myh7b	A	G	2: 155,471,242 (GRCm39)	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,878,368 (GRCm39)	T52A	probably benign	Het
Nxpe2	C	A	9: 48,231,821 (GRCm39)	V379L	probably benign	Het
Or10ad1c	G	A	15: 98,084,749 (GRCm39)	R310W	probably damaging	Het
Or4c1	C	A	2: 89,133,246 (GRCm39)	S230I	possibly damaging	Het
Or4c1	T	A	2: 89,133,247 (GRCm39)	S230C	probably damaging	Het
Or5b111	A	T	19: 13,291,081 (GRCm39)	D189E	probably benign	Het
Or5b12	C	T	19: 12,897,298 (GRCm39)	C125Y	probably damaging	Het
Pcdhga7	A	T	18: 37,850,261 (GRCm39)	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,608,989 (GRCm39)	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,114,786 (GRCm39)	V1367A	possibly damaging	Het
Postn	T	A	3: 54,282,492 (GRCm39)	N484K	probably damaging	Het
Prkd3	C	T	17: 79,268,600 (GRCm39)	V572I	probably benign	Het
Qser1	T	C	2: 104,617,528 (GRCm39)	S1005G	probably benign	Het
Radil	G	T	5: 142,472,556 (GRCm39)	D951E	probably benign	Het
Ripk1	C	T	13: 34,211,925 (GRCm39)	R352*	probably null	Het
Sacs	T	C	14: 61,450,196 (GRCm39)	F4081L	probably benign	Het
Sbf1	A	G	15: 89,199,288 (GRCm39)	V11A	possibly damaging	Het
Slc45a1	A	G	4: 150,722,741 (GRCm39)	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,029,625 (GRCm39)	P71L	probably benign	Het
Spns1	T	A	7: 125,976,209 (GRCm39)	D14V	probably damaging	Het
Sv2c	T	A	13: 96,122,526 (GRCm39)	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,870,479 (GRCm39)	M169K	probably benign	Het
Tgm1	A	T	14: 55,943,138 (GRCm39)	N567K	probably benign	Het
Thoc2l	A	G	5: 104,670,106 (GRCm39)	K1543E	probably benign	Het
Tln2	C	T	9: 67,302,743 (GRCm39)	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,831,155 (GRCm39)	V1340A	probably benign	Het
Tspan18	A	T	2: 93,142,375 (GRCm39)		probably null	Het
Txndc11	C	T	16: 10,902,178 (GRCm39)	V679I	probably damaging	Het
Usf1	G	T	1: 171,244,532 (GRCm39)	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,457,451 (GRCm39)	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,718,785 (GRCm39)	I713F	probably damaging	Het
Vmn2r79	A	T	7: 86,687,168 (GRCm39)	I850F	probably damaging	Het
Vps35l	T	A	7: 118,390,671 (GRCm39)	I455N	probably damaging	Het
Wdr90	C	T	17: 26,074,337 (GRCm39)	R676H	probably benign	Het
Zfp867	G	A	11: 59,354,487 (GRCm39)	R281W	probably damaging	Het
Zfp939	T	C	7: 39,122,366 (GRCm39)		noncoding transcript	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
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

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