Mutagenetix > Incidental Mutation

Incidental Mutation 'R2940:Sorbs1'

255166

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

040517-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R2940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40283197-40502223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40362015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 123 (D123G)

Ref Sequence

ENSEMBL: ENSMUSP00000097065 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000099466
AA Change: D123G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097065
Gene: ENSMUSG00000025006
AA Change: D123G

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

possibly damaging
Transcript: ENSMUST00000099467
AA Change: D247G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097066
Gene: ENSMUSG00000025006
AA Change: D247G

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
AA Change: D123G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000126460
Gene: ENSMUSG00000025006
AA Change: D123G

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 damaging
Transcript: ENSMUST00000165469
AA Change: D153G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125768
Gene: ENSMUSG00000025006
AA Change: D153G

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: ENSMUST00000223724

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224227

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224233
AA Change: D123G

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225153
AA Change: D247G

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225786
AA Change: D153G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225148
AA Change: D123G

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000224667
AA Change: D132G

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224247
AA Change: D123G

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000226047
AA Change: D134G

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225858

Predicted Effect

probably benign
Transcript: ENSMUST00000224583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225766

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	G	13: 68,878,424 (GRCm39)	W405R	probably damaging	Het
Apc	G	A	18: 34,409,723 (GRCm39)	R221H	probably damaging	Het
Armcx6	A	T	X: 133,650,625 (GRCm39)	W69R	probably damaging	Het
Bltp1	A	G	3: 37,012,954 (GRCm39)	D1878G	probably damaging	Het
Carm1	C	A	9: 21,490,692 (GRCm39)		probably null	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Cngb1	T	C	8: 95,978,735 (GRCm39)	I573V	probably benign	Het
Crybg2	A	G	4: 133,809,745 (GRCm39)	H1517R	possibly damaging	Het
Dixdc1	G	A	9: 50,622,259 (GRCm39)	A25V	probably damaging	Het
Dmap1	G	A	4: 117,533,202 (GRCm39)	T284M	possibly damaging	Het
Dock6	A	G	9: 21,750,496 (GRCm39)	F473L	possibly damaging	Het
Eif3a	T	C	19: 60,762,115 (GRCm39)	T487A	probably benign	Het
Faiml	A	G	9: 99,114,527 (GRCm39)	C121R	probably damaging	Het
Fam180a	A	T	6: 35,290,564 (GRCm39)	S140T	possibly damaging	Het
Fibcd1	T	C	2: 31,707,276 (GRCm39)	Y327C	probably damaging	Het
Haghl	A	G	17: 26,004,060 (GRCm39)	V8A	possibly damaging	Het
Igfbp1	A	G	11: 7,151,970 (GRCm39)	T258A	probably benign	Het
Isl1	T	C	13: 116,444,835 (GRCm39)	T65A	possibly damaging	Het
Khdrbs3	T	A	15: 68,921,239 (GRCm39)	D185E	probably damaging	Het
Klc1	C	T	12: 111,772,451 (GRCm39)	R157C	possibly damaging	Het
Lamc3	A	G	2: 31,830,714 (GRCm39)	S1484G	probably benign	Het
Lman1	G	T	18: 66,117,344 (GRCm39)	P466Q	possibly damaging	Het
Map3k4	C	T	17: 12,480,157 (GRCm39)	E682K	probably damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nbea	C	G	3: 55,842,045 (GRCm39)	E1879Q	probably benign	Het
Or8b12i	C	A	9: 20,082,061 (GRCm39)	G269W	probably benign	Het
Or8g34	G	A	9: 39,373,226 (GRCm39)	M166I	probably benign	Het
Pigc	T	C	1: 161,798,239 (GRCm39)	Y74H	possibly damaging	Het
Plek	C	T	11: 16,942,887 (GRCm39)		probably null	Het
Pramel28	A	G	4: 143,693,247 (GRCm39)	V77A	probably benign	Het
Rasgrf1	C	T	9: 89,873,767 (GRCm39)	A692V	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rnf25	A	G	1: 74,635,047 (GRCm39)	V135A	possibly damaging	Het
Senp6	G	A	9: 80,051,124 (GRCm39)	A1134T	probably benign	Het
Sh3rf2	G	A	18: 42,244,505 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,122,757 (GRCm39)	D506G	probably damaging	Het
Slc13a1	T	A	6: 24,090,779 (GRCm39)	I547F	possibly damaging	Het
Slc26a6	G	A	9: 108,734,236 (GRCm39)	V206I	probably benign	Het
Smc1a	T	A	X: 150,816,695 (GRCm39)	Y516N	probably damaging	Het
Tecta	A	T	9: 42,289,290 (GRCm39)	M425K	possibly damaging	Het
Trpv1	A	G	11: 73,145,675 (GRCm39)	K403R	probably damaging	Het
Ttc39d	A	G	17: 80,524,982 (GRCm39)	Y547C	probably damaging	Het
Tubb6	A	G	18: 67,534,994 (GRCm39)	N298D	probably damaging	Het
Xpo7	G	T	14: 70,904,577 (GRCm39)	L1020I	probably benign	Het
Xpo7	A	T	14: 70,904,576 (GRCm39)	L1020Q	probably damaging	Het
Zswim4	A	T	8: 84,950,377 (GRCm39)	L611Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTTGGACAGATAGACAGCTTCC -3'
(R):5'- AGCTTCTAACTGGAATTGACCC -3'

Sequencing Primer
(F):5'- CAGATAGACAGCTTCCTTAGAGGC -3'
(R):5'- GCTTCTAACTGGAATTGACCCATTGG -3'

Posted On

2014-12-29