Mutagenetix > Incidental Mutation

Incidental Mutation 'R8079:Sh3tc1'

629193

Institutional Source

Beutler Lab

Gene Symbol

Sh3tc1

Ensembl Gene

ENSMUSG00000036553

Gene Name

SH3 domain and tetratricopeptide repeats 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R8079 (G1)

Quality Score

199.009

Status

Not validated

Chromosome

Chromosomal Location

35697180-35739987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35706857 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 662 (L662P)

Ref Sequence

ENSEMBL: ENSMUSP00000070610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070203] [ENSMUST00000129664] [ENSMUST00000201511]

AlphaFold

G3X9F6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070203
AA Change: L662P

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: L662P

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
low complexity region	101	117	N/A	INTRINSIC
low complexity region	270	278	N/A	INTRINSIC
SH3	312	371	1.72e-6	SMART
low complexity region	381	397	N/A	INTRINSIC
low complexity region	422	434	N/A	INTRINSIC
low complexity region	541	552	N/A	INTRINSIC
TPR	565	598	3.41e1	SMART
Blast:TPR	607	639	2e-6	BLAST
TPR	668	701	3.37e-2	SMART
TPR	796	829	6.4e1	SMART
Blast:TPR	874	902	2e-6	BLAST
TPR	913	946	9.99e1	SMART
TPR	1202	1235	4.31e0	SMART
low complexity region	1266	1277	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127288

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: L600P

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
low complexity region	209	217	N/A	INTRINSIC
SH3	251	310	1.72e-6	SMART
low complexity region	320	336	N/A	INTRINSIC
low complexity region	361	373	N/A	INTRINSIC
low complexity region	480	491	N/A	INTRINSIC
TPR	504	537	3.41e1	SMART
Blast:TPR	546	578	2e-6	BLAST
TPR	607	640	3.37e-2	SMART
TPR	735	768	6.4e1	SMART
Blast:TPR	813	841	2e-6	BLAST
TPR	852	885	9.99e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129664

SMART Domains

Protein: ENSMUSP00000119811
Gene: ENSMUSG00000036553

Domain	Start	End	E-Value	Type
low complexity region	34	42	N/A	INTRINSIC
SH3	76	130	2.41e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201511
AA Change: L662P

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: L662P

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
low complexity region	101	117	N/A	INTRINSIC
low complexity region	270	278	N/A	INTRINSIC
SH3	312	371	1.72e-6	SMART
low complexity region	381	397	N/A	INTRINSIC
low complexity region	422	434	N/A	INTRINSIC
low complexity region	541	552	N/A	INTRINSIC
TPR	565	598	3.41e1	SMART
Blast:TPR	607	639	2e-6	BLAST
TPR	668	701	3.37e-2	SMART
TPR	796	829	6.4e1	SMART
Blast:TPR	874	902	2e-6	BLAST
TPR	913	946	9.99e1	SMART
TPR	1202	1235	4.31e0	SMART
low complexity region	1266	1277	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.0%
20x: 96.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	G	5: 124,083,123	I255T	possibly damaging	Het
Ablim1	A	T	19: 57,182,224		probably null	Het
Akap10	G	A	11: 61,930,054	P8L	possibly damaging	Het
Ankle2	C	T	5: 110,231,316	A27V	probably damaging	Het
Anxa8	A	G	14: 34,094,812	T246A	probably benign	Het
Arhgap5	A	G	12: 52,567,205	N1460S	probably benign	Het
Arid5b	T	G	10: 68,098,356	D572A	possibly damaging	Het
Atrn	T	A	2: 131,013,641	L1278Q	probably null	Het
AU040320	G	T	4: 126,832,160	K454N	possibly damaging	Het
Baz2b	T	A	2: 59,900,768	R2085W	probably damaging	Het
Bbx	A	T	16: 50,210,458	N649K	probably damaging	Het
BC034090	G	A	1: 155,225,286	P411S	probably damaging	Het
Calcoco2	A	T	11: 96,107,537	F20Y	probably damaging	Het
Carmil2	A	G	8: 105,686,761	R50G	probably damaging	Het
Catspere2	A	G	1: 178,046,959	T131A	probably benign	Het
Cdcp1	C	A	9: 123,173,790	V739L	probably damaging	Het
Chit1	A	G	1: 134,144,027	T92A	possibly damaging	Het
Clstn3	A	G	6: 124,459,804	I185T	probably damaging	Het
Dctpp1	C	A	7: 127,259,389	V61L	probably damaging	Het
Dip2a	T	C	10: 76,287,321	T760A	probably benign	Het
Dock10	C	T	1: 80,578,704	V552I	probably benign	Het
Dpcr1	T	C	17: 35,638,192	T172A	unknown	Het
Dpp8	A	G	9: 65,043,735	E151G	probably damaging	Het
Dvl2	G	C	11: 70,007,518	R367P	possibly damaging	Het
Fem1b	A	T	9: 62,796,361	I539N	probably damaging	Het
Frat2	A	T	19: 41,847,838	L25H	probably damaging	Het
Garnl3	A	T	2: 33,018,499		probably null	Het
Gh	T	C	11: 106,301,427	H47R	possibly damaging	Het
Glmp	T	C	3: 88,325,738	V61A	probably damaging	Het
Gm6614	T	G	6: 141,987,734	M462L	probably benign	Het
Gm9925	T	C	18: 74,065,487	V129A	unknown	Het
H2-M9	T	A	17: 36,642,133	E94V	probably benign	Het
Hira	A	T	16: 18,925,757	Q408L	probably benign	Het
Hook3	A	G	8: 26,088,058		probably null	Het
Ifi206	G	A	1: 173,481,158	P424L		Het
Impdh2	T	C	9: 108,563,325	V270A	probably benign	Het
Klhl14	A	G	18: 21,651,965	I135T	probably benign	Het
Klra10	C	A	6: 130,275,775	V179L	probably benign	Het
Kmt2c	T	C	5: 25,302,732	S3236G	probably damaging	Het
Krt76	G	T	15: 101,888,390	A358D	possibly damaging	Het
Lacc1	C	A	14: 77,029,552	G424C	probably damaging	Het
Limch1	A	G	5: 67,046,753	I878V	possibly damaging	Het
Lipi	C	T	16: 75,565,530		probably null	Het
Lrrc17	C	T	5: 21,561,071	R184W	probably damaging	Het
Mllt10	A	G	2: 18,123,756	N183D	probably damaging	Het
Mterf2	C	T	10: 85,120,163	G199D	probably damaging	Het
Nat8f4	A	T	6: 85,900,994	S182R	probably benign	Het
Ndrg3	C	A	2: 156,937,532	E238*	probably null	Het
Nop14	A	T	5: 34,654,461	L194H	probably damaging	Het
Obscn	T	C	11: 59,081,905	E2105G	possibly damaging	Het
Olfr1009	A	T	2: 85,722,043	T213S	probably benign	Het
Olfr1079	T	A	2: 86,538,381	H176L	possibly damaging	Het
Olfr1457	A	C	19: 13,095,284	Y121*	probably null	Het
Olfr829	A	T	9: 18,857,429	Y259F	possibly damaging	Het
Pbx3	C	T	2: 34,178,228	A320T	probably benign	Het
Pcdhac2	A	T	18: 37,146,144	S726C	probably damaging	Het
Pcdhgb2	A	G	18: 37,690,763	D269G	probably damaging	Het
Pcgf6	A	T	19: 47,045,832	S257T	probably damaging	Het
Pclo	A	T	5: 14,540,458	H924L	unknown	Het
Per3	T	A	4: 151,042,678	T129S	possibly damaging	Het
Pi4ka	A	T	16: 17,303,060	M1270K		Het
Plec	G	A	15: 76,179,550	Q2277*	probably null	Het
Pnma1	T	A	12: 84,147,335	K198M	probably damaging	Het
Prc1	T	A	7: 80,304,767	F196L	possibly damaging	Het
Prkcz	T	C	4: 155,357,505	T57A	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Robo4	A	G	9: 37,402,635	M61V	possibly damaging	Het
Rps12	C	T	10: 23,785,677	V79I	probably benign	Het
Rsph3a	A	G	17: 7,979,188	K466E	probably benign	Het
Scly	A	T	1: 91,308,367	I168F	probably damaging	Het
Setd1a	T	A	7: 127,785,053	F359I	unknown	Het
Slc12a5	T	C	2: 164,992,452	W798R	probably damaging	Het
Slc16a6	C	T	11: 109,473,455	R13Q	unknown	Het
Smarcad1	A	G	6: 65,052,782	D118G	possibly damaging	Het
Sos2	T	C	12: 69,607,215	T788A	probably damaging	Het
Syvn1	A	G	19: 6,048,366	E75G	probably null	Het
Thpo	T	C	16: 20,726,394	E103G	probably benign	Het
Trav7d-3	A	T	14: 52,744,736	E78V	possibly damaging	Het
Uap1	A	G	1: 170,158,763	S217P	probably damaging	Het
Unc45a	T	G	7: 80,331,562	R497S	probably damaging	Het
Upf1	A	G	8: 70,338,884		probably null	Het
Usp47	A	T	7: 112,046,970	K28M	probably damaging	Het
Wdr72	A	C	9: 74,218,772	T1062P	probably damaging	Het
Wnt7b	A	T	15: 85,537,445	C339S	probably damaging	Het
Zfp954	G	T	7: 7,115,471	T358K	probably benign	Het
Zmynd15	G	T	11: 70,459,452		probably benign	Het

Other mutations in Sh3tc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Sh3tc1	APN	5	35710957	missense	probably damaging	1.00
IGL01019:Sh3tc1	APN	5	35703375	missense	probably damaging	1.00
IGL01725:Sh3tc1	APN	5	35700316	missense	probably benign	0.08
IGL02069:Sh3tc1	APN	5	35718995	missense	probably benign	0.45
IGL02153:Sh3tc1	APN	5	35703352	missense	probably damaging	1.00
IGL02269:Sh3tc1	APN	5	35706284	missense	probably benign	0.21
IGL02609:Sh3tc1	APN	5	35707172	missense	probably damaging	0.99
IGL02984:Sh3tc1	UTSW	5	35714059	splice site	probably null
R0280:Sh3tc1	UTSW	5	35706017	missense	probably damaging	1.00
R0305:Sh3tc1	UTSW	5	35723999	missense	probably benign
R0322:Sh3tc1	UTSW	5	35706561	missense	possibly damaging	0.86
R0485:Sh3tc1	UTSW	5	35702012	splice site	probably benign
R0511:Sh3tc1	UTSW	5	35703462	missense	probably damaging	1.00
R0513:Sh3tc1	UTSW	5	35700307	missense	possibly damaging	0.87
R0523:Sh3tc1	UTSW	5	35724066	small deletion	probably benign
R0550:Sh3tc1	UTSW	5	35699784	missense	probably damaging	0.99
R0676:Sh3tc1	UTSW	5	35719114	splice site	probably benign
R1485:Sh3tc1	UTSW	5	35719026	missense	probably benign	0.00
R1559:Sh3tc1	UTSW	5	35703349	critical splice donor site	probably null
R1599:Sh3tc1	UTSW	5	35707512	missense	probably benign	0.05
R1759:Sh3tc1	UTSW	5	35705904	missense	possibly damaging	0.95
R1808:Sh3tc1	UTSW	5	35705924	missense	probably benign	0.01
R1816:Sh3tc1	UTSW	5	35700584	critical splice donor site	probably null
R2036:Sh3tc1	UTSW	5	35716164	missense	probably benign	0.01
R2092:Sh3tc1	UTSW	5	35700658	missense	probably damaging	1.00
R2944:Sh3tc1	UTSW	5	35714160	missense	probably damaging	1.00
R4258:Sh3tc1	UTSW	5	35706978	missense	probably benign	0.00
R4556:Sh3tc1	UTSW	5	35707082	missense	probably damaging	1.00
R4647:Sh3tc1	UTSW	5	35706318	missense	probably damaging	1.00
R5011:Sh3tc1	UTSW	5	35700289	missense	probably damaging	1.00
R5740:Sh3tc1	UTSW	5	35707055	missense	probably benign	0.00
R6023:Sh3tc1	UTSW	5	35706951	nonsense	probably null
R6164:Sh3tc1	UTSW	5	35706246	missense	probably benign	0.05
R6262:Sh3tc1	UTSW	5	35699773	missense	probably damaging	1.00
R6433:Sh3tc1	UTSW	5	35706597	missense	probably damaging	0.99
R6932:Sh3tc1	UTSW	5	35707434	missense	probably benign	0.01
R6986:Sh3tc1	UTSW	5	35723944	missense	probably benign
R7098:Sh3tc1	UTSW	5	35702014	splice site	probably null
R7502:Sh3tc1	UTSW	5	35706062	missense	probably damaging	0.96
R7737:Sh3tc1	UTSW	5	35723953	missense	probably benign	0.15
R7792:Sh3tc1	UTSW	5	35710951	missense	probably damaging	0.97
R8154:Sh3tc1	UTSW	5	35718352	missense	probably damaging	1.00
R8267:Sh3tc1	UTSW	5	35706407	missense	probably benign	0.01
R8300:Sh3tc1	UTSW	5	35697448	missense	probably benign	0.00
R8416:Sh3tc1	UTSW	5	35710912	missense	probably damaging	0.99
R8459:Sh3tc1	UTSW	5	35721589	missense	probably benign
R8699:Sh3tc1	UTSW	5	35701891	missense	probably damaging	1.00
R8754:Sh3tc1	UTSW	5	35706458	missense	probably benign	0.07
R8782:Sh3tc1	UTSW	5	35714204	missense	possibly damaging	0.93
R9044:Sh3tc1	UTSW	5	35697490	missense	possibly damaging	0.84
R9047:Sh3tc1	UTSW	5	35706483	missense	probably benign
R9092:Sh3tc1	UTSW	5	35716977	missense	probably benign	0.00
R9771:Sh3tc1	UTSW	5	35716310	missense	probably damaging	1.00
X0061:Sh3tc1	UTSW	5	35706809	missense	probably damaging	1.00
Z1176:Sh3tc1	UTSW	5	35714229	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- GCCATAAATGTCAGCCAGAAGC -3'
(R):5'- ACTTTGAAGAGGCACTGGG -3'

Sequencing Primer
(F):5'- CAGGTAACAGTCTTCAGGCCATG -3'
(R):5'- TTTGAAGAGGCACTGGGAGCTC -3'

Posted On

2020-06-30