Mutagenetix > Incidental Mutations

Incidental Mutation 'R2092:Sh3tc1'

231823

Institutional Source

Beutler Lab

Gene Symbol

Sh3tc1

Ensembl Gene

ENSMUSG00000036553

Gene Name

SH3 domain and tetratricopeptide repeats 1

Synonyms

MMRRC Submission

040097-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R2092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35697180-35739987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35700658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1121 (E1121G)

Ref Sequence

ENSEMBL: ENSMUSP00000144175 (fasta)

Gene Model

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

AlphaFold

G3X9F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000070203
AA Change: E1121G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: E1121G

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

unknown
Transcript: ENSMUST00000127825
AA Change: E1059G

SMART Domains

Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: E1059G

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

noncoding transcript
Transcript: ENSMUST00000151555

Predicted Effect

probably damaging
Transcript: ENSMUST00000201511
AA Change: E1121G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: E1121G

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,674,937	C1321*	probably null	Het
Abca8b	A	G	11: 109,966,708	F673L	possibly damaging	Het
Adam19	T	G	11: 46,060,904		probably null	Het
AI987944	T	C	7: 41,374,617	T313A	possibly damaging	Het
Akap13	A	T	7: 75,610,570	I178F	probably benign	Het
Alb	G	GA	5: 90,463,983		probably null	Het
Bod1l	A	G	5: 41,831,517	S416P	probably damaging	Het
Casr	A	T	16: 36,510,043	Y310N	possibly damaging	Het
Cela3a	T	C	4: 137,404,426	N152S	probably benign	Het
Chrdl2	T	A	7: 100,020,977	C102*	probably null	Het
Col4a4	G	A	1: 82,498,946	S554L	unknown	Het
Col6a4	T	C	9: 106,060,331	K1392R	probably damaging	Het
Dab1	T	G	4: 104,678,777	Y128D	probably damaging	Het
Dars	A	T	1: 128,374,018	M293K	probably damaging	Het
Dlec1	T	C	9: 119,121,844	F493L	possibly damaging	Het
Dmbt1	G	T	7: 131,050,018	W330L	probably damaging	Het
Dnah11	A	T	12: 118,012,716	M831K	possibly damaging	Het
Dock7	T	C	4: 99,009,308	N715S	possibly damaging	Het
Edc4	T	A	8: 105,887,528	L12Q	probably damaging	Het
Edem2	T	C	2: 155,709,049	M333V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,022,334		probably null	Het
Fto	C	A	8: 91,409,687	Y194*	probably null	Het
Gnptab	T	G	10: 88,440,305	Y1151*	probably null	Het
Grm1	A	G	10: 10,689,225	L1113P	probably benign	Het
Hnrnpa0	T	C	13: 58,127,800	K172E	probably damaging	Het
Ifitm1	A	G	7: 140,969,514	D70G	probably damaging	Het
Irx4	C	A	13: 73,265,486	T25K	probably damaging	Het
Kif22	C	T	7: 127,033,630	D195N	probably damaging	Het
Lrp2	C	T	2: 69,536,021	D245N	probably benign	Het
Lyz1	C	T	10: 117,288,599	R144Q	probably benign	Het
Macf1	T	A	4: 123,383,178	T6055S	probably damaging	Het
Mrgpra2b	C	T	7: 47,464,160	V249I	probably benign	Het
Myh9	G	A	15: 77,764,350	Q80*	probably null	Het
Myo6	G	T	9: 80,245,682	R199L	probably damaging	Het
Naglu	G	A	11: 101,076,720	V499I	possibly damaging	Het
Nfkbie	T	C	17: 45,558,539	F140S	probably benign	Het
Olfr1208	A	G	2: 88,897,267	F110S	probably damaging	Het
Olfr1454	T	A	19: 13,063,802	Y130*	probably null	Het
Olfr510	CAAATA	CA	7: 108,667,662		probably null	Het
Olfr598	G	A	7: 103,329,109	V208M	probably damaging	Het
Olfr67	A	T	7: 103,788,072	F68L	possibly damaging	Het
Olfr935	A	T	9: 38,995,189	L82Q	probably damaging	Het
Otop1	A	T	5: 38,299,766	I290F	probably damaging	Het
P2rx2	C	T	5: 110,341,141	D203N	probably damaging	Het
Pcdhb10	T	A	18: 37,414,187	I772N	probably benign	Het
Pnliprp1	A	G	19: 58,741,184	H423R	probably benign	Het
Ptk2	A	T	15: 73,236,191	Y56*	probably null	Het
Rapgef3	T	C	15: 97,760,723	D134G	probably damaging	Het
Scaf11	A	C	15: 96,415,827	S1358A	probably damaging	Het
Scn9a	T	C	2: 66,533,376	M844V	probably damaging	Het
Slc25a15	T	C	8: 22,380,934	T176A	probably damaging	Het
Slc29a4	T	A	5: 142,718,855	I384N	probably damaging	Het
Slc40a1	A	T	1: 45,909,454	D555E	probably benign	Het
Smc5	T	C	19: 23,238,899	I446V	probably benign	Het
St6gal2	T	C	17: 55,510,266	Y477H	probably damaging	Het
Syngr1	A	T	15: 80,115,940	Q84L	possibly damaging	Het
Tedc1	T	C	12: 113,157,720	L187P	probably damaging	Het
Tg	A	G	15: 66,849,607	I322V	probably null	Het
Thap12	T	C	7: 98,716,449	V608A	possibly damaging	Het
Tmbim6	T	C	15: 99,402,068	S22P	probably damaging	Het
Ttc3	C	T	16: 94,442,832	P1232S	probably benign	Het
Upk3a	A	G	15: 85,018,085	T38A	probably damaging	Het
Utrn	A	T	10: 12,678,698	M1549K	probably benign	Het
Vmn1r176	C	T	7: 23,835,153	D192N	probably damaging	Het
Vmn1r198	A	G	13: 22,354,715	T35A	possibly damaging	Het
Xkr7	C	T	2: 153,054,063	S279L	probably damaging	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp641	G	T	15: 98,293,712	T31N	probably benign	Het
Zfp74	G	A	7: 29,953,924		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
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
R8079:Sh3tc1	UTSW	5	35706857	missense	possibly damaging	0.78
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
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'- CTCCTAAGCCCACATGTGTG -3'
(R):5'- CTAGCTCTCTGGTCCTGAAAGC -3'

Sequencing Primer
(F):5'- ACATGTGTGTGAGGAACTGTCAC -3'
(R):5'- TGAAAGCTCCTCTCCTCAGAG -3'

Posted On

2014-09-18