Mutagenetix > Incidental Mutation

Incidental Mutation 'R6768:Sorbs1'

532065

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

044884-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R6768 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40283197-40502223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40315991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 383 (N383K)

Ref Sequence

ENSEMBL: ENSMUSP00000097065 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000099466
AA Change: N383K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097065
Gene: ENSMUSG00000025006
AA Change: N383K

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 damaging
Transcript: ENSMUST00000099467
AA Change: N637K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097066
Gene: ENSMUSG00000025006
AA Change: N637K

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 damaging
Transcript: ENSMUST00000165212
AA Change: N423K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126460
Gene: ENSMUSG00000025006
AA Change: N423K

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

possibly damaging
Transcript: ENSMUST00000165469
AA Change: N413K

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125768
Gene: ENSMUSG00000025006
AA Change: N413K

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 damaging
Transcript: ENSMUST00000224247
AA Change: N383K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224667
AA Change: N444K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225786
AA Change: N413K

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225153
AA Change: N637K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226047
AA Change: N394K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225148
AA Change: N383K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.1881

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 97.2%

Validation Efficiency

96% (45/47)

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
Adam6b	G	A	12: 113,453,863 (GRCm39)	V227I	probably benign	Het
Agtrap	A	G	4: 148,166,067 (GRCm39)	V106A	probably benign	Het
Aldh3a2	A	C	11: 61,144,536 (GRCm39)	S341A	probably benign	Het
Bmper	T	A	9: 23,292,749 (GRCm39)	C353S	probably damaging	Het
Casq1	C	T	1: 172,047,245 (GRCm39)	D5N	probably benign	Het
Ccin	G	A	4: 43,984,574 (GRCm39)	R327H	probably benign	Het
Chuk	A	G	19: 44,085,390 (GRCm39)	V252A	probably damaging	Het
Colec11	T	C	12: 28,645,100 (GRCm39)		probably null	Het
Cpeb3	G	A	19: 37,002,432 (GRCm39)	T643I	possibly damaging	Het
Cstpp1	A	T	2: 91,252,303 (GRCm39)	H19Q	probably damaging	Het
Ctcfl	A	G	2: 172,959,084 (GRCm39)	V214A	possibly damaging	Het
Dst	A	G	1: 34,220,793 (GRCm39)	E2199G	probably damaging	Het
Eno2	T	C	6: 124,744,711 (GRCm39)	E45G	probably damaging	Het
Foxa2	T	C	2: 147,885,747 (GRCm39)	H181R	probably damaging	Het
Fpgs	A	G	2: 32,576,635 (GRCm39)	S331P	probably benign	Het
Gm47189	A	G	14: 41,492,035 (GRCm39)	S81P	probably benign	Het
Igsf8	C	A	1: 172,145,099 (GRCm39)	P142Q	probably damaging	Het
Islr	G	T	9: 58,064,893 (GRCm39)	Q205K	possibly damaging	Het
Josd1	A	G	15: 79,561,323 (GRCm39)	W162R	probably benign	Het
Lrrc37a	G	A	11: 103,390,949 (GRCm39)	T1492I	probably benign	Het
Meox1	A	G	11: 101,770,161 (GRCm39)	F189L	probably damaging	Het
Mtf1	G	A	4: 124,731,578 (GRCm39)	D385N	probably benign	Het
Naip2	A	T	13: 100,314,832 (GRCm39)	C315*	probably null	Het
Ncaph2	T	A	15: 89,248,202 (GRCm39)	Y166*	probably null	Het
Nr1i3	G	A	1: 171,044,966 (GRCm39)	V270M	probably damaging	Het
Or11h4b	A	G	14: 50,919,049 (GRCm39)	L14S	probably damaging	Het
Or13c7	T	C	4: 43,854,351 (GRCm39)	I14T	probably benign	Het
Panx3	T	C	9: 37,575,322 (GRCm39)	K180R	probably benign	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Reln	A	C	5: 22,183,905 (GRCm39)	V1698G	probably damaging	Het
Rnf213	G	T	11: 119,333,062 (GRCm39)	R2757L	probably damaging	Het
Scgb2b26	G	T	7: 33,644,379 (GRCm39)	T4K	probably damaging	Het
Sdhb	A	G	4: 140,706,364 (GRCm39)	E267G	probably damaging	Het
Stk11ip	T	A	1: 75,509,279 (GRCm39)	C766S	probably benign	Het
Taf6l	A	C	19: 8,751,913 (GRCm39)	S592A	probably damaging	Het
Tmem145	G	A	7: 25,008,061 (GRCm39)	G235D	probably damaging	Het
Tuba3b	T	A	6: 145,564,455 (GRCm39)		probably null	Het
Ubl7	A	T	9: 57,820,045 (GRCm39)	E32D	probably benign	Het
Vmn1r168	A	T	7: 23,240,460 (GRCm39)	T106S	probably damaging	Het
Vmn2r59	C	A	7: 41,661,392 (GRCm39)	V808F	probably benign	Het
Vmn2r61	C	T	7: 41,949,748 (GRCm39)	P723S	probably damaging	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp11	G	T	5: 129,735,415 (GRCm39)	D15E	probably benign	Het
Zfp428	G	A	7: 24,214,908 (GRCm39)	G162R	probably damaging	Het
Zfp629	G	A	7: 127,209,997 (GRCm39)	T604I	probably benign	Het
Zfpm1	C	A	8: 123,061,195 (GRCm39)	D253E	probably damaging	Het
Zhx1	G	T	15: 57,917,499 (GRCm39)	T249K	probably benign	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
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'- GACATGGATAGGCAGAGCTC -3'
(R):5'- AAAGCAGTTTTCTTCTCCCCAG -3'

Sequencing Primer
(F):5'- AGAGCTCTGTCCCTGTGG -3'
(R):5'- TTCTCCCCAGCTGGTGACAAAC -3'

Posted On

2018-08-29