Mutagenetix > Incidental Mutation

Incidental Mutation 'R4767:Sh3bp1'

366243

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp1

Ensembl Gene

ENSMUSG00000022436

Gene Name

SH3-domain binding protein 1

Synonyms

3BP-1

MMRRC Submission

042408-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R4767 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78899768-78912051 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78904497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 241 (S241P)

Ref Sequence

ENSEMBL: ENSMUSP00000001226 (fasta)

Gene Model

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

AlphaFold

P55194

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001226
AA Change: S241P

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000001226
Gene: ENSMUSG00000022436
AA Change: S241P

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: S241P

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052181
Gene: ENSMUSG00000022436
AA Change: S241P

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: S241P

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105320
Gene: ENSMUSG00000022436
AA Change: S241P

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: S241P

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138598
Gene: ENSMUSG00000022436
AA Change: S241P

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: S177P

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)

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

Meta Mutation Damage Score

0.7038

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

95% (62/65)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,138,977		probably null	Het
Aig1	T	C	10: 13,801,858	N130S	probably damaging	Het
Alx1	A	T	10: 103,025,186	Y160*	probably null	Het
Ap4e1	T	C	2: 127,060,438	I755T	probably benign	Het
Apoc3	C	A	9: 46,234,535	E21*	probably null	Het
Atp9b	G	T	18: 80,753,070	H919Q	probably damaging	Het
Cemip	T	G	7: 83,973,306	Y555S	probably damaging	Het
Cic	T	C	7: 25,271,600	V252A	possibly damaging	Het
Cracr2a	A	T	6: 127,611,507	N210Y	probably damaging	Het
Crocc2	G	A	1: 93,202,856	R953Q	possibly damaging	Het
Csnk1d	A	G	11: 120,969,128	S318P	probably benign	Het
Ddx21	A	G	10: 62,591,972	L384P	probably damaging	Het
Dnah5	C	T	15: 28,270,474	T974I	probably benign	Het
Duox1	A	G	2: 122,333,441	Y863C	possibly damaging	Het
Epg5	C	A	18: 78,023,283	P2133T	possibly damaging	Het
Ephb6	A	T	6: 41,614,185	Q92L	possibly damaging	Het
Ercc4	C	A	16: 13,122,095	A73D	probably damaging	Het
Eva1c	A	T	16: 90,904,347	Y290F	probably damaging	Het
Galnt5	T	A	2: 58,028,144	V798E	possibly damaging	Het
Haus4	T	C	14: 54,548,885	E149G	probably damaging	Het
Ighv1-13	A	G	12: 114,630,936	Y86C	unknown	Het
Igkv9-120	G	T	6: 68,050,367	R88S	possibly damaging	Het
Lama3	T	C	18: 12,500,563	V1584A	probably benign	Het
Lamb1	A	G	12: 31,308,011	E1119G	probably damaging	Het
Lao1	T	C	4: 118,967,988	L335P	probably damaging	Het
Mindy4	A	G	6: 55,260,565	D375G	probably damaging	Het
Myo5a	T	C	9: 75,144,076	I317T	probably damaging	Het
Nhlrc2	G	A	19: 56,570,466	V128I	probably benign	Het
Nlrp2	C	T	7: 5,328,024	D458N	probably damaging	Het
Olfr107	T	A	17: 37,406,200	C217*	probably null	Het
Olfr1497	A	T	19: 13,795,045	C189S	probably damaging	Het
Olfr347	A	T	2: 36,734,323	M1L	probably benign	Het
Olfr76	G	T	19: 12,119,936	H247N	probably damaging	Het
Olfr938	T	C	9: 39,078,692	T18A	possibly damaging	Het
Parp8	T	C	13: 116,868,536	H663R	probably damaging	Het
Pax6	T	C	2: 105,695,360	S377P	probably benign	Het
Pi15	A	G	1: 17,602,766	D63G	probably benign	Het
Plaa	A	G	4: 94,586,258		probably benign	Het
Rbm5	C	A	9: 107,745,213	W546C	probably damaging	Het
Rnf123	C	A	9: 108,052,089	C1257F	probably damaging	Het
Rnf185	A	G	11: 3,432,551	S45P	possibly damaging	Het
Slfn8	G	A	11: 83,003,197	A872V	possibly damaging	Het
Smoc1	G	A	12: 81,104,773		probably null	Het
Sox14	A	T	9: 99,875,633	W18R	probably damaging	Het
Spata31d1a	T	C	13: 59,701,155	E1053G	probably benign	Het
Syne1	T	A	10: 5,344,866	K1246*	probably null	Het
Tbrg4	A	C	11: 6,620,909	S188A	probably benign	Het
Thnsl2	A	T	6: 71,134,295	D196E	probably damaging	Het
Tmem266	C	T	9: 55,380,741	T34I	probably damaging	Het
Tmem59l	C	A	8: 70,486,098	R111L	probably benign	Het
Tpr	T	C	1: 150,430,529		probably benign	Het
Trpc6	T	C	9: 8,643,686	S491P	probably damaging	Het
Tspan10	A	T	11: 120,446,166	N254I	probably damaging	Het
Ubox5	A	T	2: 130,591,894	L511Q	probably damaging	Het
Vmn1r183	TATCCATC	TATC	7: 24,055,106		probably null	Het
Vmn2r4	C	T	3: 64,390,976	C577Y	probably damaging	Het
Vmn2r86	A	T	10: 130,455,737	M53K	probably benign	Het
Zfp948	T	A	17: 21,588,307	I587N	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
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
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
R8887:Sh3bp1	UTSW	15	78904340	critical splice donor site	probably null
R9043:Sh3bp1	UTSW	15	78907249	missense	possibly damaging	0.71
R9057:Sh3bp1	UTSW	15	78910009	missense	probably benign	0.00
R9548:Sh3bp1	UTSW	15	78904473	missense	possibly damaging	0.94
Z1177:Sh3bp1	UTSW	15	78902572	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCAAGGAGGATTCTTATGCC -3'
(R):5'- ATTCAACCATAGCTCCCTACTG -3'

Sequencing Primer
(F):5'- CAAGGAGGATTCTTATGCCAACTAC -3'
(R):5'- AACTCTCTATGGAGACTAGGCTGC -3'

Posted On

2015-12-21