Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02216:Sh3bp1'

284905

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh3bp1

Ensembl Gene

ENSMUSG00000022436

Gene Name

SH3-domain binding protein 1

Synonyms

3BP-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

IGL02216

Quality Score

Status

Chromosome

Chromosomal Location

78899768-78912051 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78905164 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 241 (M241L)

Ref Sequence

ENSEMBL: ENSMUSP00000154996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001226] [ENSMUST00000061239] [ENSMUST00000109698] [ENSMUST00000132047] [ENSMUST00000134703] [ENSMUST00000148893] [ENSMUST00000151146]

Predicted Effect

probably benign
Transcript: ENSMUST00000001226
AA Change: M305L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000001226
Gene: ENSMUSG00000022436
AA Change: M305L

Domain	Start	End	E-Value	Type
Pfam:BAR	2	254	7e-37	PFAM
RhoGAP	287	466	2.04e-63	SMART
low complexity region	500	518	N/A	INTRINSIC
low complexity region	558	593	N/A	INTRINSIC
low complexity region	604	633	N/A	INTRINSIC
low complexity region	661	672	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061239
AA Change: M305L

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000052181
Gene: ENSMUSG00000022436
AA Change: M305L

Domain	Start	End	E-Value	Type
Pfam:BAR	2	254	2.2e-36	PFAM
RhoGAP	287	466	2.04e-63	SMART
low complexity region	500	518	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109698
AA Change: M305L

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105320
Gene: ENSMUSG00000022436
AA Change: M305L

Domain	Start	End	E-Value	Type
Pfam:BAR	2	254	2.2e-36	PFAM
RhoGAP	287	466	2.04e-63	SMART
low complexity region	500	518	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132047
AA Change: M305L

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000138598
Gene: ENSMUSG00000022436
AA Change: M305L

Domain	Start	End	E-Value	Type
Pfam:BAR	2	254	5.4e-36	PFAM
RhoGAP	287	466	2.04e-63	SMART
low complexity region	500	518	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134703
AA Change: M241L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000148893

SMART Domains

Protein: ENSMUSP00000117839
Gene: ENSMUSG00000022436

Domain	Start	End	E-Value	Type
Blast:BAR	2	55	1e-5	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000151146

SMART Domains

Protein: ENSMUSP00000138780
Gene: ENSMUSG00000022436

Domain	Start	End	E-Value	Type
Pfam:BAR	2	143	9e-22	PFAM
low complexity region	160	177	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231057

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	T	18: 38,252,860	I102F	probably damaging	Het
4930544D05Rik	T	C	11: 70,616,179	F48L	possibly damaging	Het
5830473C10Rik	T	C	5: 90,579,579		probably benign	Het
Adamts12	A	G	15: 11,241,485	N381S	possibly damaging	Het
Akp3	A	T	1: 87,127,650	Q473L	probably damaging	Het
Ap5s1	T	A	2: 131,212,967		probably benign	Het
Atp10b	T	A	11: 43,259,789	L1438Q	probably damaging	Het
B3galt4	G	A	17: 33,950,565	P233L	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cc2d1a	C	A	8: 84,139,313	E393*	probably null	Het
Cd209a	G	T	8: 3,745,576	T165N	probably damaging	Het
Chid1	T	C	7: 141,496,593		probably benign	Het
Cln3	A	T	7: 126,575,342		probably null	Het
Cped1	A	T	6: 22,059,945	R203S	probably damaging	Het
Dnttip2	G	T	3: 122,276,261	W375L	probably benign	Het
Dync1h1	T	C	12: 110,663,002	F4280S	probably damaging	Het
Ephb4	A	G	5: 137,372,070	D844G	possibly damaging	Het
Fhl2	T	A	1: 43,131,719	E145V	probably null	Het
Gne	T	C	4: 44,044,761	K458E	probably benign	Het
Grid2	G	T	6: 64,345,666	R550L	probably damaging	Het
Klhl1	T	A	14: 96,123,222	T731S	probably benign	Het
Kng1	T	A	16: 23,058,533	D30E	probably damaging	Het
Kyat1	A	G	2: 30,187,252	V158A	probably benign	Het
Mcm8	G	T	2: 132,839,529	V642F	probably damaging	Het
Mdn1	C	T	4: 32,739,092	H3638Y	probably benign	Het
Neb	T	G	2: 52,226,490	T4158P	probably benign	Het
Neo1	T	C	9: 58,917,053	I697M	probably damaging	Het
Nfkb1	A	T	3: 135,594,963	V614D	probably damaging	Het
Olfr860	G	A	9: 19,846,565	S18L	probably damaging	Het
Otog	T	C	7: 46,301,468	S2555P	probably damaging	Het
Pkd1l1	T	A	11: 8,834,897	R1962S	probably damaging	Het
Plxnb1	A	G	9: 109,100,850	Y258C	probably damaging	Het
Pramef8	T	A	4: 143,417,728		probably null	Het
Prl3a1	A	G	13: 27,270,144	D35G	probably benign	Het
Rag1	A	T	2: 101,643,381	V472D	possibly damaging	Het
Rbpj-ps3	G	A	6: 46,529,707		probably benign	Het
Rnf112	C	T	11: 61,449,978	V472M	probably damaging	Het
Rps18	A	G	17: 33,952,041		probably benign	Het
Rptn	T	C	3: 93,395,773	S138P	possibly damaging	Het
Sbpl	A	C	17: 23,953,716	N76K	probably benign	Het
Slc22a17	T	C	14: 54,907,976	*198W	probably null	Het
Smc3	C	T	19: 53,621,844	R221C	probably damaging	Het
Snai1	A	G	2: 167,538,848	E87G	probably benign	Het
Snx22	C	A	9: 66,069,188	A49S	probably benign	Het
Tas2r143	A	T	6: 42,400,334	R33*	probably null	Het
Try4	A	G	6: 41,305,031	I184V	probably benign	Het
Ttn	T	A	2: 76,754,552	K20355*	probably null	Het
Ttn	A	G	2: 76,791,725	V15491A	probably benign	Het
Vmn1r170	A	G	7: 23,606,490	T106A	probably damaging	Het
Vmn2r59	A	T	7: 42,012,393	V666E	probably damaging	Het
Vsx1	T	C	2: 150,684,575	N221S	possibly damaging	Het
Zcchc6	T	C	13: 59,800,423	T293A	probably benign	Het
Zfp846	A	G	9: 20,588,609	E45G	probably damaging	Het

Other mutations in Sh3bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Sh3bp1	APN	15	78905114	missense	possibly damaging	0.58
IGL01879:Sh3bp1	APN	15	78907992	missense	probably damaging	1.00
IGL02112:Sh3bp1	APN	15	78905884	critical splice donor site	probably null
IGL02385:Sh3bp1	APN	15	78905888	splice site	probably benign
IGL02417:Sh3bp1	APN	15	78901499	missense	probably damaging	1.00
IGL02551:Sh3bp1	APN	15	78904338	missense	probably benign	0.01
PIT1430001:Sh3bp1	UTSW	15	78914024	missense	probably benign
PIT4585001:Sh3bp1	UTSW	15	78910076	missense	possibly damaging	0.49
R0255:Sh3bp1	UTSW	15	78904334	nonsense	probably null
R0318:Sh3bp1	UTSW	15	78911707	missense	probably damaging	0.97
R0544:Sh3bp1	UTSW	15	78905775	missense	probably damaging	1.00
R0554:Sh3bp1	UTSW	15	78907267	missense	probably damaging	1.00
R1424:Sh3bp1	UTSW	15	78903699	critical splice donor site	probably null
R1465:Sh3bp1	UTSW	15	78907345	splice site	probably benign
R1813:Sh3bp1	UTSW	15	78903680	missense	probably damaging	0.96
R1835:Sh3bp1	UTSW	15	78905150	missense	probably damaging	1.00
R2291:Sh3bp1	UTSW	15	78918319	missense	possibly damaging	0.93
R2415:Sh3bp1	UTSW	15	78901161	start gained	probably benign
R2509:Sh3bp1	UTSW	15	78911506	missense	probably damaging	1.00
R2511:Sh3bp1	UTSW	15	78911506	missense	probably damaging	1.00
R3054:Sh3bp1	UTSW	15	78911422	missense	probably benign	0.01
R3827:Sh3bp1	UTSW	15	78904497	missense	possibly damaging	0.67
R3855:Sh3bp1	UTSW	15	78901161	start gained	probably benign
R4767:Sh3bp1	UTSW	15	78904497	missense	possibly damaging	0.67
R4787:Sh3bp1	UTSW	15	78907995	missense	possibly damaging	0.80
R4852:Sh3bp1	UTSW	15	78904338	missense	probably benign	0.01
R4872:Sh3bp1	UTSW	15	78908037	missense	probably benign	0.31
R5194:Sh3bp1	UTSW	15	78903101	missense	probably damaging	1.00
R6320:Sh3bp1	UTSW	15	78911515	missense	probably damaging	1.00
R6322:Sh3bp1	UTSW	15	78911515	missense	probably damaging	1.00
R6569:Sh3bp1	UTSW	15	78911696	missense	probably damaging	1.00
R6678:Sh3bp1	UTSW	15	78908514	critical splice donor site	probably null
R6905:Sh3bp1	UTSW	15	78905030	missense	probably benign	0.00
R7564:Sh3bp1	UTSW	15	78911560	missense	probably damaging	1.00
R7744:Sh3bp1	UTSW	15	78910009	missense	possibly damaging	0.61
R7916:Sh3bp1	UTSW	15	78907221	missense	probably benign	0.01
R8048:Sh3bp1	UTSW	15	78910072	missense	probably benign	0.26
Z1177:Sh3bp1	UTSW	15	78902572	missense	probably damaging	1.00

Posted On

2015-04-16