Mutagenetix > Incidental Mutations

Incidental Mutation 'R1813:Sh3bp1'

202589

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp1

Ensembl Gene

ENSMUSG00000022436

Gene Name

SH3-domain binding protein 1

Synonyms

3BP-1

MMRRC Submission

039841-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R1813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78899768-78912051 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78903680 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 137 (K137E)

Ref Sequence

ENSEMBL: ENSMUSP00000154996 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001226
AA Change: K201E

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000001226
Gene: ENSMUSG00000022436
AA Change: K201E

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

possibly damaging
Transcript: ENSMUST00000061239
AA Change: K201E

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000052181
Gene: ENSMUSG00000022436
AA Change: K201E

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

possibly damaging
Transcript: ENSMUST00000109698
AA Change: K201E

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105320
Gene: ENSMUSG00000022436
AA Change: K201E

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

possibly damaging
Transcript: ENSMUST00000132047
AA Change: K201E

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138598
Gene: ENSMUSG00000022436
AA Change: K201E

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 damaging
Transcript: ENSMUST00000134703
AA Change: K137E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

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

unknown
Transcript: ENSMUST00000151146
AA Change: E175G

SMART Domains

Protein: ENSMUSP00000138780
Gene: ENSMUSG00000022436
AA Change: E175G

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

Meta Mutation Damage Score

0.1696

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.8%
20x: 90.3%

Validation Efficiency

96% (79/82)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,566,273	N595Y	probably benign	Het
Abca6	A	G	11: 110,233,845		probably benign	Het
Abo	C	A	2: 26,843,597	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,280,294	V277G	probably damaging	Het
Adam23	G	A	1: 63,545,572	A380T	probably benign	Het
Art2b	A	G	7: 101,580,029	V221A	probably benign	Het
Bcam	A	G	7: 19,766,715	S153P	probably damaging	Het
Brip1	T	C	11: 86,187,080	H174R	possibly damaging	Het
Ccdc186	T	C	19: 56,800,169	D536G	probably benign	Het
Cd109	A	G	9: 78,617,005	N67S	probably benign	Het
Cd8a	G	T	6: 71,373,963	M137I	possibly damaging	Het
Ces2g	T	C	8: 104,966,937	F417L	probably benign	Het
Clec2g	A	G	6: 128,948,697	N23S	unknown	Het
Cntnap2	T	C	6: 46,530,633	Y61C	probably damaging	Het
Cog3	T	A	14: 75,742,344	E182D	probably benign	Het
Dbpht2	A	G	12: 74,295,850		noncoding transcript	Het
Dock4	A	T	12: 40,636,228	N154I	probably damaging	Het
Dysf	T	G	6: 84,151,924	V1422G	possibly damaging	Het
E2f3	T	C	13: 29,920,176	D140G	probably damaging	Het
Epb41l2	T	A	10: 25,441,568		probably null	Het
Epha2	A	G	4: 141,308,546	K98E	possibly damaging	Het
Esyt1	T	C	10: 128,519,618	D444G	probably benign	Het
Fam163a	T	C	1: 156,080,041	T2A	probably damaging	Het
Foxp2	A	T	6: 15,379,768		probably benign	Het
Gcm2	T	C	13: 41,105,891	H34R	probably benign	Het
Gipr	A	G	7: 19,164,071	S79P	probably benign	Het
Gli3	T	C	13: 15,648,691	S333P	probably damaging	Het
Gm10717	T	G	9: 3,026,317	F205C	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gzmk	A	G	13: 113,172,893	S208P	probably damaging	Het
Htra2	G	T	6: 83,051,602	A318D	probably damaging	Het
Itpkc	T	C	7: 27,208,380	D633G	probably damaging	Het
Lama1	G	A	17: 67,791,223	R1805H	probably benign	Het
Lama4	T	A	10: 39,033,125		probably benign	Het
Lama4	T	C	10: 39,060,186	V619A	probably damaging	Het
Notch3	T	C	17: 32,143,428	T1408A	probably benign	Het
Nwd2	A	G	5: 63,805,410	D779G	probably benign	Het
Nxpe4	A	G	9: 48,393,378	Y255C	possibly damaging	Het
Obox6	A	T	7: 15,834,845	H35Q	possibly damaging	Het
Olfr324	A	G	11: 58,598,307	I304V	probably damaging	Het
Olfr890	T	A	9: 38,143,729	I198N	possibly damaging	Het
Pkig	T	A	2: 163,721,227	I26N	possibly damaging	Het
Plekhm2	C	T	4: 141,642,439	V82M	possibly damaging	Het
Plppr2	G	A	9: 21,947,924	A446T	probably damaging	Het
Psme4	T	A	11: 30,804,353	F203L	probably benign	Het
Shisa5	T	A	9: 109,056,040	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,375,772	L21P	probably benign	Het
Slc35f1	C	T	10: 52,933,195	P93S	probably damaging	Het
Slc4a4	A	G	5: 89,046,308	T172A	probably damaging	Het
Slc9c1	A	T	16: 45,573,347	Y551F	probably benign	Het
Spata31	T	C	13: 64,921,798	S587P	probably benign	Het
Syna	C	A	5: 134,559,152	M314I	probably benign	Het
Taf5l	A	G	8: 124,003,413	L144P	probably damaging	Het
Tbccd1	T	C	16: 22,822,521	T369A	probably benign	Het
Tnfrsf11b	A	T	15: 54,256,097	C160*	probably null	Het
Trim45	A	G	3: 100,922,967	N19S	probably benign	Het
Uba2	A	G	7: 34,151,030	F364S	probably damaging	Het
Unc50	T	A	1: 37,437,242	L161Q	probably damaging	Het
Uso1	A	T	5: 92,201,133		probably null	Het
Usp25	A	G	16: 77,114,950	I956V	probably benign	Het
Utf1	C	A	7: 139,944,300	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,790,718	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,716,772	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,255,056	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,247,039	R335L	probably damaging	Het
Wasf1	T	A	10: 40,926,589	V80D	probably damaging	Het
Wdr72	G	A	9: 74,276,016	V1077I	possibly damaging	Het
Wnt8a	A	G	18: 34,542,369	M1V	probably null	Het
Zbtb26	A	G	2: 37,436,335	S230P	possibly damaging	Het
Zfp335	A	G	2: 164,892,605	V1247A	probably damaging	Het
Zfp429	T	C	13: 67,390,386	N313S	possibly damaging	Het
Zfp74	A	T	7: 29,935,144	C380S	probably damaging	Het
Zfyve21	G	A	12: 111,824,894	E134K	probably damaging	Het
Zmynd11	T	C	13: 9,689,580	T474A	possibly 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
IGL02216:Sh3bp1	APN	15	78905164	missense	probably benign	0.07
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
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
R8048:Sh3bp1	UTSW	15	78910072	missense	probably benign	0.26
Z1177:Sh3bp1	UTSW	15	78902572	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTCTGTAAACCCTAGAGTCC -3'
(R):5'- GCACATAAGTACAGCAGAGGTC -3'

Sequencing Primer
(F):5'- AACCCTAGAGTCCTGTGTGATTACG -3'
(R):5'- TACAGCAGAGGTCCTGGG -3'

Posted On

2014-06-23