Mutagenetix > Incidental Mutation

Incidental Mutation 'R9047:Sh3tc1'

688105

Institutional Source

Beutler Lab

Gene Symbol

Sh3tc1

Ensembl Gene

ENSMUSG00000036553

Gene Name

SH3 domain and tetratricopeptide repeats 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R9047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35697180-35739987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35706483 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 787 (A787S)

Ref Sequence

ENSEMBL: ENSMUSP00000070610 (fasta)

Gene Model

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

AlphaFold

G3X9F6

Predicted Effect

probably benign
Transcript: ENSMUST00000070203
AA Change: A787S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: A787S

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: A725S

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

probably benign
Transcript: ENSMUST00000201511
AA Change: A787S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: A787S

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: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,939,093	S156T	probably damaging	Het
4930522L14Rik	A	G	5: 109,737,554	L146P		Het
Adra1a	T	A	14: 66,638,185	M203K	probably damaging	Het
Adtrp	G	A	13: 41,816,160	T89I	possibly damaging	Het
Akt3	G	T	1: 177,059,389	T298K	probably damaging	Het
Aldh4a1	G	T	4: 139,623,200		probably benign	Het
Aplf	T	C	6: 87,663,797	T77A	possibly damaging	Het
Arid4b	T	A	13: 14,181,230	W618R	probably damaging	Het
Asxl3	C	A	18: 22,452,408	P130Q	probably damaging	Het
Asxl3	A	G	18: 22,452,414	K132R	probably damaging	Het
Atp11a	T	C	8: 12,828,483	M353T	probably damaging	Het
Atp11b	A	G	3: 35,806,889	D375G	probably damaging	Het
BC052040	A	G	2: 115,777,023	T286A	probably benign	Het
Cage1	C	T	13: 38,017,362	A656T	possibly damaging	Het
Casz1	C	T	4: 148,939,040	P801S	probably damaging	Het
Ccdc130	C	T	8: 84,263,898	R35Q	probably damaging	Het
Ccdc144b	A	G	3: 36,032,884	I187T	probably benign	Het
Cdc14b	A	T	13: 64,220,944		probably benign	Het
Cox6b2	A	G	7: 4,752,087	F63L	probably benign	Het
Cramp1l	A	C	17: 24,979,629	V773G	possibly damaging	Het
Cul7	A	G	17: 46,654,522	E542G	probably benign	Het
Cyp2c55	T	C	19: 39,031,346	Y243H	possibly damaging	Het
Dnah9	C	A	11: 66,072,099	D1797Y	possibly damaging	Het
Dpep2	C	A	8: 105,989,312	A298S		Het
Dvl3	G	A	16: 20,524,076		probably null	Het
Enpp3	T	C	10: 24,798,274	D376G	possibly damaging	Het
Ffar4	T	C	19: 38,113,784	I289T	possibly damaging	Het
Gm3417	A	G	17: 14,967,680	Y111H	probably damaging	Het
Gm5565	T	C	5: 146,158,039	Y299C	probably damaging	Het
Gm8765	C	T	13: 50,702,092	R589*	probably null	Het
Gpat3	A	T	5: 100,846,922	M39L	probably benign	Het
Gpr153	T	C	4: 152,280,207	L240P	probably damaging	Het
Gpr182	T	C	10: 127,750,648	I145V	probably benign	Het
H2-Q4	A	T	17: 35,379,993	T80S	possibly damaging	Het
Hnf1a	T	A	5: 114,950,823	T545S	probably benign	Het
Kif5b	A	C	18: 6,208,261	F946V	probably benign	Het
Krtap16-1	C	T	11: 99,986,341	C79Y	probably damaging	Het
Lama2	A	G	10: 27,006,701	V2622A	possibly damaging	Het
Lrrc37a	T	A	11: 103,500,549	Q1350L	probably damaging	Het
Map2k2	G	A	10: 81,119,664	V294I	probably benign	Het
Mtus1	G	A	8: 41,083,723	H319Y	possibly damaging	Het
Ncdn	T	C	4: 126,750,828	D67G	possibly damaging	Het
Ngef	G	A	1: 87,503,288	P269L	probably damaging	Het
Nlrp9b	A	G	7: 20,023,476	I213V	possibly damaging	Het
Nyap2	G	A	1: 81,298,088	R649H	possibly damaging	Het
Olfr1165-ps	T	G	2: 88,101,072	D305A	unknown	Het
Olfr1200	C	A	2: 88,767,955	R120L	probably damaging	Het
Olfr304	A	G	7: 86,386,040	S207P	probably benign	Het
Pi4kb	T	A	3: 94,993,117	L354Q	probably damaging	Het
Plekhh2	T	C	17: 84,590,762	S944P	probably damaging	Het
Podn	C	T	4: 108,021,546	V375M	probably damaging	Het
Pramef8	C	A	4: 143,419,103	Q381K	possibly damaging	Het
Psmb2	T	A	4: 126,706,102	H110Q	probably benign	Het
Rasip1	A	G	7: 45,632,642	E523G	possibly damaging	Het
Ripor1	T	G	8: 105,616,151	C219G	probably damaging	Het
Rps6ka2	G	C	17: 7,300,279	V714L	probably damaging	Het
Sass6	G	T	3: 116,613,998	L254F	probably damaging	Het
Scarf2	G	A	16: 17,806,406	G525E	probably damaging	Het
Sh3d21	T	A	4: 126,152,338		probably benign	Het
Skint5	T	A	4: 113,655,722	N871I	unknown	Het
Slc48a1	T	G	15: 97,789,952	D62E	probably damaging	Het
Slc6a21	G	A	7: 45,286,974	M157I		Het
Slurp2	T	C	15: 74,743,112	D60G	probably benign	Het
Sparcl1	G	T	5: 104,093,113	N148K	possibly damaging	Het
Spsb2	T	A	6: 124,810,013	N236K	probably benign	Het
Sptb	G	T	12: 76,632,534		probably benign	Het
Ssc4d	A	T	5: 135,961,176	C41S	probably damaging	Het
Tecta	A	T	9: 42,375,079	D760E	probably benign	Het
Tesmin	G	T	19: 3,389,431		probably benign	Het
Tiam1	A	C	16: 89,804,888		probably benign	Het
Tldc1	T	C	8: 119,762,311	N411S	probably benign	Het
Tnrc6a	T	C	7: 123,179,723	L1219S	probably damaging	Het
Tram1	T	G	1: 13,569,606	I306L	probably benign	Het
Trank1	A	C	9: 111,362,432	D503A	probably damaging	Het
Ttc21b	T	C	2: 66,201,252	H1044R		Het
Ubac2	T	C	14: 121,908,214	F95L	probably benign	Het
Vmn2r91	A	T	17: 18,106,034	M194L	probably benign	Het
Zdhhc1	G	T	8: 105,478,901	H90Q	probably damaging	Het
Zfp169	C	T	13: 48,498,816	V42I	probably damaging	Het
Zfp81	A	G	17: 33,334,413	C476R	probably damaging	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
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
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'- AGCTGTTCCCACAAAGCATG -3'
(R):5'- TGACATTTATGGCCGGAAATGC -3'

Sequencing Primer
(F):5'- AGCATGTGCAACCAGGC -3'
(R):5'- AAATGCCTGCCCCATCTGG -3'

Posted On

2021-11-19