Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00776:Sorbs1'

14186

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sorbs1

Ensembl Gene

ENSMUSG00000025006

Gene Name

sorbin and SH3 domain containing 1

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.815) question?

Stock #

IGL00776

Quality Score

Status

Chromosome

Chromosomal Location

40283197-40502223 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 40332795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153313 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000099467

SMART Domains

Protein: ENSMUSP00000097066
Gene: ENSMUSG00000025006

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 null
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

noncoding transcript
Transcript: ENSMUST00000224227

Predicted Effect

probably benign
Transcript: ENSMUST00000224247

Predicted Effect

probably null
Transcript: ENSMUST00000224667

Predicted Effect

probably null
Transcript: ENSMUST00000225153

Predicted Effect

probably benign
Transcript: ENSMUST00000226047

Predicted Effect

probably benign
Transcript: ENSMUST00000225148

Predicted Effect

probably benign
Transcript: ENSMUST00000225786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226028

Coding Region Coverage

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	T	2: 19,545,182 (GRCm39)	D90E	probably benign	Het
Abcb5	T	C	12: 118,883,589 (GRCm39)	S560G	probably damaging	Het
Ankrd24	A	C	10: 81,478,979 (GRCm39)		probably benign	Het
Atp8a1	A	T	5: 67,906,486 (GRCm39)	I461N	probably benign	Het
Eif4a1	G	A	11: 69,559,922 (GRCm39)	L166F	probably damaging	Het
Herc1	T	A	9: 66,328,320 (GRCm39)	H1542Q	probably benign	Het
Itih4	G	A	14: 30,611,561 (GRCm39)	V95I	probably benign	Het
Kcnh7	A	G	2: 62,680,720 (GRCm39)	I289T	probably benign	Het
Krt86	C	T	15: 101,371,741 (GRCm39)	H104Y	probably benign	Het
Mterf1a	A	C	5: 3,941,809 (GRCm39)	W20G	possibly damaging	Het
Slc24a5	T	C	2: 124,922,809 (GRCm39)	S161P	probably damaging	Het
Slc25a21	G	A	12: 56,816,990 (GRCm39)	T99I	probably benign	Het
Smurf1	A	G	5: 144,818,584 (GRCm39)	S619P	probably benign	Het
Strn4	C	T	7: 16,564,377 (GRCm39)	R185C	probably damaging	Het
Tctn3	A	G	19: 40,585,865 (GRCm39)	F560S	probably damaging	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
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
R8527: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

Posted On

2012-12-06