Mutagenetix > Incidental Mutation

Incidental Mutation 'R7340:Sgip1'

569754

Institutional Source

Beutler Lab

Gene Symbol

Sgip1

Ensembl Gene

ENSMUSG00000028524

Gene Name

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

Synonyms

3110007P09Rik

MMRRC Submission

045430-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102616351-102834623 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 102778661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 419 (R419S)

Ref Sequence

ENSEMBL: ENSMUSP00000079553 (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: R419S

SMART Domains

Protein: ENSMUSP00000079553
Gene: ENSMUSG00000028524
AA Change: R419S

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: R419S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102495
Gene: ENSMUSG00000028524
AA Change: R419S

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 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Adam30	A	T	3: 98,069,637 (GRCm39)	N490I	probably benign	Het
Ankrd55	A	T	13: 112,492,497 (GRCm39)	I223F	probably damaging	Het
Ano8	T	A	8: 71,935,655 (GRCm39)	E321V	probably damaging	Het
Apc2	A	G	10: 80,149,316 (GRCm39)	K1457E	probably benign	Het
Asb15	T	A	6: 24,558,513 (GRCm39)	V38E	probably benign	Het
Atp4a	T	C	7: 30,416,155 (GRCm39)	S417P	possibly damaging	Het
AY358078	A	G	14: 52,063,716 (GRCm39)	N454S	probably damaging	Het
Cables2	A	G	2: 179,903,450 (GRCm39)	Y245H		Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Camsap3	G	A	8: 3,637,960 (GRCm39)		probably null	Het
Ccdc178	A	T	18: 22,150,518 (GRCm39)	V705E	probably benign	Het
Ccdc47	T	C	11: 106,091,799 (GRCm39)	Q472R	possibly damaging	Het
Ccdc62	A	G	5: 124,089,283 (GRCm39)	D307G	probably damaging	Het
Cdcp3	A	G	7: 130,879,344 (GRCm39)	T1788A	unknown	Het
Cdh23	A	G	10: 60,366,775 (GRCm39)	I235T	probably benign	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cfap65	T	C	1: 74,960,742 (GRCm39)	N743D	probably benign	Het
Cimap1b	T	A	15: 89,262,610 (GRCm39)	T116S	probably benign	Het
Clec16a	A	G	16: 10,398,827 (GRCm39)	N329S	probably null	Het
Col25a1	A	G	3: 130,340,006 (GRCm39)		probably null	Het
Daam1	T	G	12: 72,035,713 (GRCm39)	D969E	probably benign	Het
Dntt	A	C	19: 41,047,004 (GRCm39)		probably null	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dst	T	A	1: 34,229,810 (GRCm39)	Y2468N	probably benign	Het
Exosc9	A	G	3: 36,615,297 (GRCm39)	T262A	possibly damaging	Het
Exph5	G	A	9: 53,288,309 (GRCm39)	A1797T	probably damaging	Het
Fbp2	A	T	13: 62,985,061 (GRCm39)	Y287N	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fus	T	A	7: 127,581,123 (GRCm39)		probably null	Het
Galnt9	T	A	5: 110,762,054 (GRCm39)	N397K	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gga1	A	G	15: 78,775,651 (GRCm39)	T369A	probably benign	Het
Gp1ba	T	C	11: 70,531,119 (GRCm39)	I295T	unknown	Het
Hk2	T	C	6: 82,705,873 (GRCm39)	E810G	probably benign	Het
Igsf10	A	G	3: 59,233,189 (GRCm39)	V1848A	probably damaging	Het
Insrr	G	A	3: 87,721,623 (GRCm39)		probably null	Het
Ip6k3	T	A	17: 27,367,504 (GRCm39)	M231L	probably benign	Het
Itgb8	T	C	12: 119,155,939 (GRCm39)	N171S	probably benign	Het
Ldlrad3	T	C	2: 101,897,184 (GRCm39)		probably null	Het
Ltbp1	T	A	17: 75,634,223 (GRCm39)	C886*	probably null	Het
Mettl13	T	C	1: 162,366,547 (GRCm39)	D444G	probably benign	Het
Mns1	A	G	9: 72,356,025 (GRCm39)	Y224C	probably damaging	Het
Mri1	C	T	8: 84,983,525 (GRCm39)	R122Q	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo5c	A	C	9: 75,196,423 (GRCm39)	K1290Q	probably benign	Het
Nlrp12	T	G	7: 3,281,755 (GRCm39)	Q842H	possibly damaging	Het
Oga	G	A	19: 45,755,895 (GRCm39)	Q583*	probably null	Het
Or14c44	T	C	7: 86,061,957 (GRCm39)	L129P	possibly damaging	Het
Or14j8	T	A	17: 38,263,413 (GRCm39)	R167S	probably benign	Het
Or2t1	A	T	14: 14,328,401 (GRCm38)	T97S	possibly damaging	Het
Or5d39	T	C	2: 87,979,620 (GRCm39)	T248A	possibly damaging	Het
Otoa	A	G	7: 120,729,288 (GRCm39)	T554A	probably benign	Het
Per1	A	G	11: 68,994,008 (GRCm39)	D438G	probably damaging	Het
Phactr3	G	A	2: 177,975,854 (GRCm39)	R533H	probably damaging	Het
Phykpl	T	C	11: 51,490,370 (GRCm39)	F417S	probably damaging	Het
Pole	A	T	5: 110,482,330 (GRCm39)	T2057S	probably benign	Het
Polq	A	G	16: 36,881,288 (GRCm39)	T1151A	probably benign	Het
Polr1g	T	C	7: 19,093,073 (GRCm39)	T36A	probably benign	Het
Rbm26	A	T	14: 105,389,976 (GRCm39)	V216E	possibly damaging	Het
Ryk	T	C	9: 102,775,737 (GRCm39)	I449T	probably damaging	Het
Sap25	A	G	5: 137,640,935 (GRCm39)	T225A	probably benign	Het
Sart3	A	G	5: 113,882,728 (GRCm39)	M864T	probably benign	Het
Sec31b	T	C	19: 44,517,161 (GRCm39)	S280G	probably benign	Het
Sema4d	A	T	13: 51,877,598 (GRCm39)	I78N	probably damaging	Het
Slc13a3	T	C	2: 165,272,210 (GRCm39)	I278V	probably benign	Het
Slc2a5	A	G	4: 150,224,439 (GRCm39)	D312G	probably benign	Het
Slc39a2	A	T	14: 52,131,660 (GRCm39)	Q77L	possibly damaging	Het
Srbd1	A	T	17: 86,443,782 (GRCm39)	V148E	probably benign	Het
Syngr2	A	G	11: 117,703,322 (GRCm39)	E46G	probably damaging	Het
Taok1	A	G	11: 77,470,643 (GRCm39)	V54A	possibly damaging	Het
Tas2r106	T	A	6: 131,655,185 (GRCm39)	H222L	probably damaging	Het
Tcaf3	A	G	6: 42,566,848 (GRCm39)	I747T	probably benign	Het
Tmem151b	G	T	17: 45,856,195 (GRCm39)	P415Q	probably benign	Het
Tmf1	T	C	6: 97,145,061 (GRCm39)	D659G	possibly damaging	Het
Tnn	G	T	1: 159,973,592 (GRCm39)	D258E	probably damaging	Het
Traj33	A	G	14: 54,422,862 (GRCm39)	I16V	unknown	Het
Ttll13	G	T	7: 79,906,772 (GRCm39)	C480F	probably damaging	Het
Ttn	T	C	2: 76,714,415 (GRCm39)	N8137S	unknown	Het
Vmn1r85	T	C	7: 12,819,073 (GRCm39)	N24D	probably damaging	Het
Wdr81	T	C	11: 75,335,525 (GRCm39)	Q649R	probably null	Het
Zan	T	C	5: 137,382,092 (GRCm39)	T5152A	unknown	Het
Zc3h6	A	G	2: 128,835,110 (GRCm39)	D82G	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
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
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
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'- TCAGACATCCCAGCTGACTC -3'
(R):5'- GCATTCAACGGACTAGAACATGC -3'

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

Posted On

2019-09-13