Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02189:Sh3glb2'

283776

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh3glb2

Ensembl Gene

ENSMUSG00000026860

Gene Name

SH3-domain GRB2-like endophilin B2

Synonyms

SPAS-1; mKIAA1848

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

IGL02189

Quality Score

Status

Chromosome

Chromosomal Location

30344809-30359337 bp(-) (GRCm38)

Type of Mutation

splice site (1073 bp from exon)

DNA Base Change (assembly)

T to C at 30345339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000065836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028214] [ENSMUST00000064447] [ENSMUST00000100215] [ENSMUST00000113620] [ENSMUST00000113621] [ENSMUST00000163668]

AlphaFold

Q8R3V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028214
AA Change: Y390C

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

SMART Domains

Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860
AA Change: Y390C

Domain	Start	End	E-Value	Type
BAR	7	280	8.25e-92	SMART
low complexity region	288	334	N/A	INTRINSIC
SH3	338	395	2.16e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000064447

SMART Domains

Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533

Domain	Start	End	E-Value	Type
Pfam:Nup188	31	941	9.3e-213	PFAM
low complexity region	1020	1035	N/A	INTRINSIC
low complexity region	1307	1320	N/A	INTRINSIC
low complexity region	1330	1360	N/A	INTRINSIC
low complexity region	1696	1709	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100215
AA Change: Y395C

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

SMART Domains

Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860
AA Change: Y395C

Domain	Start	End	E-Value	Type
BAR	7	280	4.42e-92	SMART
low complexity region	293	339	N/A	INTRINSIC
SH3	343	400	2.16e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113620
AA Change: Y369C

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

SMART Domains

Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860
AA Change: Y369C

Domain	Start	End	E-Value	Type
BAR	7	259	3.85e-92	SMART
low complexity region	267	313	N/A	INTRINSIC
SH3	317	374	2.16e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113621
AA Change: Y399C

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

SMART Domains

Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860
AA Change: Y399C

Domain	Start	End	E-Value	Type
BAR	7	284	5.36e-91	SMART
low complexity region	297	343	N/A	INTRINSIC
SH3	347	404	2.16e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146400

Predicted Effect

probably damaging
Transcript: ENSMUST00000163668
AA Change: Y374C

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

SMART Domains

Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860
AA Change: Y374C

Domain	Start	End	E-Value	Type
BAR	7	259	2.06e-92	SMART
low complexity region	272	318	N/A	INTRINSIC
SH3	322	379	2.16e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151354

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	T	11: 48,947,421 (GRCm38)	Y780N	probably benign	Het
Aadacl2	T	C	3: 60,025,188 (GRCm38)	S375P	probably damaging	Het
Abi1	A	C	2: 23,040,064 (GRCm38)	M1R	probably null	Het
Acss1	T	C	2: 150,629,868 (GRCm38)	D322G	probably damaging	Het
Adam22	G	A	5: 8,330,029 (GRCm38)	R90W	possibly damaging	Het
Agtpbp1	T	C	13: 59,500,461 (GRCm38)	H515R	probably benign	Het
C3	T	C	17: 57,220,113 (GRCm38)	K779E	probably benign	Het
Cfhr2	A	G	1: 139,821,759 (GRCm38)	Y162H	probably damaging	Het
Chchd5	T	C	2: 129,133,268 (GRCm38)		probably benign	Het
Csmd1	T	A	8: 16,271,606 (GRCm38)	I493F	probably damaging	Het
Daam1	A	T	12: 71,946,285 (GRCm38)	R349S	unknown	Het
Dnah11	T	C	12: 118,082,579 (GRCm38)	E1708G	probably benign	Het
Epg5	A	G	18: 78,012,870 (GRCm38)	D1753G	probably damaging	Het
Flt4	T	G	11: 49,626,003 (GRCm38)	C206G	probably damaging	Het
Fscn1	G	T	5: 142,960,620 (GRCm38)	A58S	possibly damaging	Het
Gapvd1	A	T	2: 34,728,544 (GRCm38)	N272K	probably damaging	Het
Gem	T	A	4: 11,706,121 (GRCm38)	S70T	possibly damaging	Het
H2-K1	A	G	17: 33,999,492 (GRCm38)	L150P	probably damaging	Het
Hsd3b3	T	A	3: 98,742,138 (GRCm38)	I290L	probably benign	Het
Iws1	A	G	18: 32,093,125 (GRCm38)	R689G	probably damaging	Het
Klk1b22	A	G	7: 44,116,206 (GRCm38)		probably null	Het
Klra4	T	A	6: 130,044,142 (GRCm38)	D230V	possibly damaging	Het
Krt26	C	T	11: 99,333,645 (GRCm38)	R349Q	probably benign	Het
Liat1	A	G	11: 76,000,230 (GRCm38)	K57E	probably damaging	Het
Lilra5	A	T	7: 4,237,969 (GRCm38)	M21L	probably benign	Het
Lrrc20	T	A	10: 61,527,108 (GRCm38)	V44D	possibly damaging	Het
Mtx1	T	G	3: 89,209,317 (GRCm38)	M426L	probably damaging	Het
Mylk2	C	T	2: 152,915,154 (GRCm38)	P283L	probably damaging	Het
Mynn	T	A	3: 30,613,544 (GRCm38)		probably benign	Het
Odr4	G	T	1: 150,372,033 (GRCm38)	N356K	possibly damaging	Het
Or4c1	A	C	2: 89,303,297 (GRCm38)	C98W	probably damaging	Het
Parl	T	A	16: 20,297,703 (GRCm38)	I116F	probably damaging	Het
Pdlim3	T	C	8: 45,885,593 (GRCm38)	V5A	probably damaging	Het
Pld1	G	A	3: 28,120,783 (GRCm38)	V857I	probably benign	Het
Ptprf	T	A	4: 118,213,642 (GRCm38)		probably benign	Het
Ptprn	A	G	1: 75,258,495 (GRCm38)	S170P	possibly damaging	Het
Ror2	C	T	13: 53,110,728 (GRCm38)	S764N	probably damaging	Het
Rps27a	C	A	11: 29,546,772 (GRCm38)	Q40H	probably damaging	Het
Ryr3	A	T	2: 112,754,838 (GRCm38)		probably benign	Het
Scube3	G	T	17: 28,162,996 (GRCm38)	C332F	probably benign	Het
Sh3tc2	A	G	18: 61,990,622 (GRCm38)	E818G	probably benign	Het
Slc16a3	G	A	11: 120,956,771 (GRCm38)	V262I	probably benign	Het
Sptbn1	T	A	11: 30,117,871 (GRCm38)	D1781V	probably damaging	Het
Ssr1	C	T	13: 37,987,516 (GRCm38)		probably null	Het
Tep1	A	G	14: 50,826,826 (GRCm38)	L2442S	probably benign	Het
Tonsl	A	T	15: 76,623,178 (GRCm38)	V94D	possibly damaging	Het
Ttc22	A	T	4: 106,639,157 (GRCm38)	H468L	probably benign	Het
Ttc27	C	T	17: 74,729,899 (GRCm38)	T189M	probably damaging	Het
Ttn	T	C	2: 76,890,156 (GRCm38)		probably benign	Het
Ttn	T	G	2: 76,759,895 (GRCm38)	I21157L	probably damaging	Het
Vav3	T	A	3: 109,525,960 (GRCm38)		probably benign	Het
Zfp318	C	T	17: 46,396,810 (GRCm38)	R265*	probably null	Het

Other mutations in Sh3glb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:Sh3glb2	APN	2	30,345,850 (GRCm38)	missense	possibly damaging	0.73
IGL02724:Sh3glb2	APN	2	30,346,356 (GRCm38)	missense	probably benign	0.02
IGL03352:Sh3glb2	APN	2	30,345,351 (GRCm38)	missense	probably damaging	1.00
R1162:Sh3glb2	UTSW	2	30,350,588 (GRCm38)	missense	probably damaging	1.00
R1517:Sh3glb2	UTSW	2	30,354,975 (GRCm38)	missense	probably damaging	1.00
R1725:Sh3glb2	UTSW	2	30,350,667 (GRCm38)	nonsense	probably null
R3894:Sh3glb2	UTSW	2	30,355,288 (GRCm38)	missense	probably damaging	0.97
R4523:Sh3glb2	UTSW	2	30,350,699 (GRCm38)	missense	probably damaging	0.98
R5587:Sh3glb2	UTSW	2	30,354,851 (GRCm38)	critical splice donor site	probably null
R5933:Sh3glb2	UTSW	2	30,350,389 (GRCm38)	splice site	probably null
R6215:Sh3glb2	UTSW	2	30,345,793 (GRCm38)	missense	possibly damaging	0.88
R6679:Sh3glb2	UTSW	2	30,350,619 (GRCm38)	missense	probably damaging	1.00
R6998:Sh3glb2	UTSW	2	30,355,321 (GRCm38)	missense	probably damaging	1.00
R8499:Sh3glb2	UTSW	2	30,359,204 (GRCm38)	start codon destroyed	probably null	1.00
R8500:Sh3glb2	UTSW	2	30,359,204 (GRCm38)	start codon destroyed	probably null	1.00
R9380:Sh3glb2	UTSW	2	30,348,613 (GRCm38)	missense	probably damaging	0.96
R9594:Sh3glb2	UTSW	2	30,346,660 (GRCm38)	missense	probably damaging	1.00
R9595:Sh3glb2	UTSW	2	30,346,660 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16