Mutagenetix > Incidental Mutation

Incidental Mutation 'R8527:Sorbs1'

658875

Institutional Source

Beutler Lab

Gene Symbol

Sorbs1

Ensembl Gene

ENSMUSG00000025006

Gene Name

sorbin and SH3 domain containing 1

Synonyms

c-Cbl-associated protein, Ponsin, CAP, 2310065E01Rik, 9530001P15Rik, Sh3d5

MMRRC Submission

067952-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.815) question?

Stock #

R8527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40283197-40502223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 40365244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 180 (R180G)

Ref Sequence

ENSEMBL: ENSMUSP00000153313 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099466] [ENSMUST00000099467] [ENSMUST00000165212] [ENSMUST00000165469] [ENSMUST00000224233] [ENSMUST00000224247] [ENSMUST00000224583] [ENSMUST00000224667] [ENSMUST00000225148] [ENSMUST00000225153] [ENSMUST00000225786] [ENSMUST00000226047]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000099466

SMART Domains

Protein: ENSMUSP00000097065
Gene: ENSMUSG00000025006

Domain	Start	End	E-Value	Type
low complexity region	45	63	N/A	INTRINSIC
Sorb	203	249	1.07e-26	SMART
SH3	502	557	2.72e-18	SMART
SH3	576	633	9.32e-17	SMART
low complexity region	647	660	N/A	INTRINSIC
SH3	682	739	3.7e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099467
AA Change: R180G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097066
Gene: ENSMUSG00000025006
AA Change: R180G

Domain	Start	End	E-Value	Type
low complexity region	45	63	N/A	INTRINSIC
low complexity region	192	213	N/A	INTRINSIC
Sorb	327	373	1.24e-22	SMART
coiled coil region	558	584	N/A	INTRINSIC
SH3	700	755	2.72e-18	SMART
SH3	774	831	9.32e-17	SMART
low complexity region	845	858	N/A	INTRINSIC
SH3	880	937	3.7e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165212

SMART Domains

Protein: ENSMUSP00000126460
Gene: ENSMUSG00000025006

Domain	Start	End	E-Value	Type
low complexity region	45	63	N/A	INTRINSIC
Sorb	193	239	1.07e-26	SMART
SH3	486	541	2.72e-18	SMART
SH3	560	617	9.32e-17	SMART
low complexity region	631	644	N/A	INTRINSIC
SH3	666	723	3.7e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165469

SMART Domains

Protein: ENSMUSP00000125768
Gene: ENSMUSG00000025006

Domain	Start	End	E-Value	Type
low complexity region	75	93	N/A	INTRINSIC
Sorb	233	279	1.07e-26	SMART
SH3	476	531	2.72e-18	SMART
SH3	550	607	9.32e-17	SMART
low complexity region	621	634	N/A	INTRINSIC
SH3	656	713	3.7e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224233

Predicted Effect

probably benign
Transcript: ENSMUST00000224247

Predicted Effect

probably benign
Transcript: ENSMUST00000224583

Predicted Effect

probably benign
Transcript: ENSMUST00000224667

Predicted Effect

probably benign
Transcript: ENSMUST00000225148

Predicted Effect

probably benign
Transcript: ENSMUST00000225153
AA Change: R180G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000225786

Predicted Effect

probably benign
Transcript: ENSMUST00000226047

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased triglyceride levels, altered glucose homeostasis, decreased white blood cells and resistance to developing glucose intolerance induced by a high fat diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,349,047 (GRCm39)		probably null	Het
Acsl5	A	G	19: 55,280,259 (GRCm39)	T511A	probably damaging	Het
Ankrd35	A	G	3: 96,589,353 (GRCm39)	I191V	probably damaging	Het
Apmap	T	C	2: 150,428,385 (GRCm39)	Q254R	probably benign	Het
Arhgef12	A	T	9: 42,908,944 (GRCm39)	L661Q	possibly damaging	Het
Atf7ip2	T	A	16: 10,055,129 (GRCm39)		probably benign	Het
Braf	T	C	6: 39,604,693 (GRCm39)	H592R	probably benign	Het
Ceacam2	T	A	7: 25,238,155 (GRCm39)	I90L	probably benign	Het
Dgcr6	T	C	16: 17,887,390 (GRCm39)		probably null	Het
Efcab12	T	C	6: 115,791,535 (GRCm39)	I546V	probably benign	Het
Eya1	G	T	1: 14,322,672 (GRCm39)	A268E	probably damaging	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Gas6	T	C	8: 13,515,790 (GRCm39)	I661V	probably damaging	Het
Gipc3	T	A	10: 81,174,055 (GRCm39)	M240L	possibly damaging	Het
Gm12689	A	G	4: 99,184,450 (GRCm39)	D101G	unknown	Het
Kctd2	G	T	11: 115,320,310 (GRCm39)		probably benign	Het
Kdm5b	A	T	1: 134,533,512 (GRCm39)	M534L	possibly damaging	Het
Kif14	T	A	1: 136,396,495 (GRCm39)	V267D	possibly damaging	Het
Lca5l	C	A	16: 95,960,438 (GRCm39)	G675C	probably damaging	Het
Lmod1	T	C	1: 135,292,221 (GRCm39)	F359L	possibly damaging	Het
Lonrf1	G	T	8: 36,686,986 (GRCm39)	N783K	possibly damaging	Het
Megf10	T	C	18: 57,425,790 (GRCm39)	S1059P	probably benign	Het
Mmp24	A	G	2: 155,641,634 (GRCm39)	E154G	probably benign	Het
Mtus2	A	C	5: 148,240,408 (GRCm39)	K85T	probably damaging	Het
Myh11	T	C	16: 14,048,570 (GRCm39)	H586R	probably damaging	Het
Noc2l	A	G	4: 156,326,187 (GRCm39)	T425A	probably benign	Het
Olfm3	A	T	3: 114,916,196 (GRCm39)	Q376L	probably benign	Het
Pax5	A	T	4: 44,570,071 (GRCm39)	Y272N	probably damaging	Het
Rasgrp1	A	T	2: 117,168,785 (GRCm39)	D64E	probably benign	Het
Rb1cc1	T	A	1: 6,315,099 (GRCm39)	N417K	probably damaging	Het
Rpl3l	A	G	17: 24,954,754 (GRCm39)	D369G	probably damaging	Het
Scn3a	G	T	2: 65,327,863 (GRCm39)	H876N	probably damaging	Het
Slc29a3	A	G	10: 60,566,401 (GRCm39)	S111P	probably damaging	Het
Smarca2	G	C	19: 26,654,187 (GRCm39)	V791L	probably damaging	Het
Smc4	T	A	3: 68,940,224 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,807,834 (GRCm39)	E1288G	probably damaging	Het
Tex52	G	A	6: 128,356,828 (GRCm39)	V174I	probably benign	Het
Tjp2	C	A	19: 24,088,937 (GRCm39)	G660W	probably damaging	Het
Tmem121b	T	C	6: 120,469,055 (GRCm39)	E554G	probably damaging	Het
Tmem209	C	A	6: 30,497,237 (GRCm39)	V318F	probably damaging	Het
Tnxb	A	G	17: 34,907,634 (GRCm39)	E1226G	probably damaging	Het
Traf3ip3	T	A	1: 192,876,851 (GRCm39)	I196F	probably damaging	Het
Trpc4ap	G	C	2: 155,534,132 (GRCm39)	P32R	unknown	Het
Vav3	A	G	3: 109,410,787 (GRCm39)	K206R	probably damaging	Het
Zan	T	C	5: 137,433,971 (GRCm39)	E2254G	unknown	Het

Other mutations in Sorbs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Sorbs1	APN	19	40,306,473 (GRCm39)	missense	probably damaging	1.00
IGL00776:Sorbs1	APN	19	40,332,795 (GRCm39)	splice site	probably null
IGL00788:Sorbs1	APN	19	40,325,487 (GRCm39)	splice site	probably benign
IGL00943:Sorbs1	APN	19	40,283,484 (GRCm39)	utr 3 prime	probably benign
IGL01525:Sorbs1	APN	19	40,338,422 (GRCm39)	missense	probably damaging	1.00
IGL01530:Sorbs1	APN	19	40,365,091 (GRCm39)	missense	probably benign	0.01
IGL01951:Sorbs1	APN	19	40,306,460 (GRCm39)	splice site	probably benign
IGL02159:Sorbs1	APN	19	40,316,040 (GRCm39)	missense	probably damaging	0.96
IGL02252:Sorbs1	APN	19	40,302,841 (GRCm39)	missense	probably damaging	1.00
IGL02613:Sorbs1	APN	19	40,315,991 (GRCm39)	missense	probably damaging	1.00
IGL02643:Sorbs1	APN	19	40,353,577 (GRCm39)	missense	possibly damaging	0.65
IGL02668:Sorbs1	APN	19	40,303,125 (GRCm39)	missense	probably damaging	1.00
IGL02738:Sorbs1	APN	19	40,365,348 (GRCm39)	missense	probably damaging	0.97
IGL02965:Sorbs1	APN	19	40,365,187 (GRCm39)	missense	probably benign	0.01
IGL03083:Sorbs1	APN	19	40,302,820 (GRCm39)	missense	probably damaging	1.00
IGL03173:Sorbs1	APN	19	40,351,706 (GRCm39)	missense	probably damaging	1.00
IGL03286:Sorbs1	APN	19	40,332,858 (GRCm39)	missense	probably damaging	0.99
IGL03292:Sorbs1	APN	19	40,362,009 (GRCm39)	missense	possibly damaging	0.79
R0016:Sorbs1	UTSW	19	40,303,182 (GRCm39)	splice site	probably benign
R0016:Sorbs1	UTSW	19	40,303,182 (GRCm39)	splice site	probably benign
R0306:Sorbs1	UTSW	19	40,332,855 (GRCm39)	missense	possibly damaging	0.94
R0526:Sorbs1	UTSW	19	40,338,392 (GRCm39)	missense	probably damaging	1.00
R0551:Sorbs1	UTSW	19	40,300,260 (GRCm39)	missense	probably damaging	1.00
R0688:Sorbs1	UTSW	19	40,351,706 (GRCm39)	missense	probably damaging	1.00
R1185:Sorbs1	UTSW	19	40,371,050 (GRCm39)	missense	probably damaging	1.00
R1185:Sorbs1	UTSW	19	40,371,050 (GRCm39)	missense	probably damaging	1.00
R1185:Sorbs1	UTSW	19	40,371,050 (GRCm39)	missense	probably damaging	1.00
R1891:Sorbs1	UTSW	19	40,381,904 (GRCm39)	missense	probably damaging	0.99
R2066:Sorbs1	UTSW	19	40,353,472 (GRCm39)	splice site	probably null
R2148:Sorbs1	UTSW	19	40,365,268 (GRCm39)	missense	possibly damaging	0.94
R2214:Sorbs1	UTSW	19	40,285,075 (GRCm39)	missense	probably damaging	1.00
R2410:Sorbs1	UTSW	19	40,361,959 (GRCm39)	missense	probably damaging	0.99
R2940:Sorbs1	UTSW	19	40,362,015 (GRCm39)	missense	probably damaging	1.00
R3847:Sorbs1	UTSW	19	40,302,887 (GRCm39)	missense	probably damaging	0.97
R4405:Sorbs1	UTSW	19	40,384,189 (GRCm39)	missense	probably benign	0.03
R4544:Sorbs1	UTSW	19	40,300,294 (GRCm39)	missense	probably damaging	0.99
R4618:Sorbs1	UTSW	19	40,361,962 (GRCm39)	missense	probably damaging	0.99
R4731:Sorbs1	UTSW	19	40,303,133 (GRCm39)	missense	probably benign	0.29
R4732:Sorbs1	UTSW	19	40,303,133 (GRCm39)	missense	probably benign	0.29
R4733:Sorbs1	UTSW	19	40,303,133 (GRCm39)	missense	probably benign	0.29
R4860:Sorbs1	UTSW	19	40,325,449 (GRCm39)	missense	probably benign	0.44
R4860:Sorbs1	UTSW	19	40,325,449 (GRCm39)	missense	probably benign	0.44
R4907:Sorbs1	UTSW	19	40,328,491 (GRCm39)	nonsense	probably null
R4912:Sorbs1	UTSW	19	40,300,171 (GRCm39)	missense	probably damaging	1.00
R5229:Sorbs1	UTSW	19	40,329,151 (GRCm39)	missense	probably damaging	1.00
R5285:Sorbs1	UTSW	19	40,310,334 (GRCm39)	missense	probably damaging	1.00
R5416:Sorbs1	UTSW	19	40,365,433 (GRCm39)	missense	probably benign	0.06
R5706:Sorbs1	UTSW	19	40,365,325 (GRCm39)	missense	probably benign
R5871:Sorbs1	UTSW	19	40,387,027 (GRCm39)	missense	probably damaging	1.00
R5936:Sorbs1	UTSW	19	40,313,216 (GRCm39)	missense	probably damaging	0.96
R6073:Sorbs1	UTSW	19	40,303,101 (GRCm39)	missense	probably damaging	1.00
R6324:Sorbs1	UTSW	19	40,310,263 (GRCm39)	missense	probably damaging	0.99
R6343:Sorbs1	UTSW	19	40,365,426 (GRCm39)	critical splice donor site	probably null
R6561:Sorbs1	UTSW	19	40,314,496 (GRCm39)	missense	probably benign
R6646:Sorbs1	UTSW	19	40,313,993 (GRCm39)	missense	probably damaging	1.00
R6768:Sorbs1	UTSW	19	40,315,991 (GRCm39)	missense	probably damaging	1.00
R6849:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R6850:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R6878:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R6879:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R6880:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R6908:Sorbs1	UTSW	19	40,340,776 (GRCm39)	missense	probably damaging	1.00
R6980:Sorbs1	UTSW	19	40,316,060 (GRCm39)	nonsense	probably null
R7040:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R7041:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R7110:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R7122:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R7170:Sorbs1	UTSW	19	40,314,573 (GRCm39)	nonsense	probably null
R7180:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R7185:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R7187:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R7254:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R7255:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R7401:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R7595:Sorbs1	UTSW	19	40,303,097 (GRCm39)	missense	probably damaging	0.99
R7819:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R7876:Sorbs1	UTSW	19	40,285,032 (GRCm39)	missense	probably damaging	1.00
R7894:Sorbs1	UTSW	19	40,316,020 (GRCm39)	missense	probably benign	0.02
R7986:Sorbs1	UTSW	19	40,353,449 (GRCm39)	missense	probably damaging	0.99
R8031:Sorbs1	UTSW	19	40,314,933 (GRCm39)	missense	probably benign	0.17
R8082:Sorbs1	UTSW	19	40,353,527 (GRCm39)	missense	probably benign	0.08
R8282:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R8283:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R8446:Sorbs1	UTSW	19	40,314,602 (GRCm39)	missense	probably benign
R8526:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R8528:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R8539:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R8540:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R8542:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R8543:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R8544:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R8545:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R8684:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R8699:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R8702:Sorbs1	UTSW	19	40,365,244 (GRCm39)	missense	probably benign
R8752:Sorbs1	UTSW	19	40,349,872 (GRCm39)	critical splice donor site	probably null
R8937:Sorbs1	UTSW	19	40,362,006 (GRCm39)	missense	probably benign	0.02
R8956:Sorbs1	UTSW	19	40,351,660 (GRCm39)	missense	probably damaging	1.00
R8960:Sorbs1	UTSW	19	40,387,048 (GRCm39)	missense	probably damaging	0.98
R9175:Sorbs1	UTSW	19	40,315,018 (GRCm39)	missense	probably damaging	1.00
R9208:Sorbs1	UTSW	19	40,353,462 (GRCm39)	start gained	probably benign
R9211:Sorbs1	UTSW	19	40,332,798 (GRCm39)	critical splice donor site	probably null
R9371:Sorbs1	UTSW	19	40,315,324 (GRCm39)	missense	probably damaging	0.98
R9374:Sorbs1	UTSW	19	40,361,923 (GRCm39)	nonsense	probably null
R9377:Sorbs1	UTSW	19	40,387,048 (GRCm39)	missense	probably damaging	0.98
R9551:Sorbs1	UTSW	19	40,361,923 (GRCm39)	nonsense	probably null
R9552:Sorbs1	UTSW	19	40,361,923 (GRCm39)	nonsense	probably null
R9686:Sorbs1	UTSW	19	40,381,954 (GRCm39)	missense	probably damaging	1.00
Z1177:Sorbs1	UTSW	19	40,315,339 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCAGCAAGCTTACGGTACTTG -3'
(R):5'- CCTTATTTCCCACAGGGTGC -3'

Sequencing Primer
(F):5'- AGCTTACGGTACTTGAGACAGCTC -3'
(R):5'- CAGCCCCGTCTGAGGTAATAGTTG -3'

Posted On

2021-01-18