Mutagenetix > Incidental Mutation

Incidental Mutation 'R2944:Sh3tc1'

264617

Institutional Source

Beutler Lab

Gene Symbol

Sh3tc1

Ensembl Gene

ENSMUSG00000036553

Gene Name

SH3 domain and tetratricopeptide repeats 1

Synonyms

MMRRC Submission

040518-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R2944 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

35854524-35897331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35871504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 107 (V107L)

Ref Sequence

ENSEMBL: ENSMUSP00000119811 (fasta)

Gene Model

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

AlphaFold

G3X9F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000070203
AA Change: V343L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: V343L

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: V281L

SMART Domains

Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: V281L

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 damaging
Transcript: ENSMUST00000129664
AA Change: V107L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119811
Gene: ENSMUSG00000036553
AA Change: V107L

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: V343L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: V343L

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: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	C	7: 133,577,236 (GRCm39)	M179V	probably null	Het
Alms1	C	T	6: 85,605,373 (GRCm39)	T2341I	probably damaging	Het
Bpnt1	A	G	1: 185,084,406 (GRCm39)	T168A	probably damaging	Het
Cdcp2	A	C	4: 106,959,755 (GRCm39)	S57R	possibly damaging	Het
Cmya5	T	A	13: 93,229,350 (GRCm39)	K1913*	probably null	Het
Coro1c	C	G	5: 113,988,861 (GRCm39)	G161R	probably damaging	Het
Csnk1a1	T	C	18: 61,711,760 (GRCm39)	M258T	probably benign	Het
Dnah3	A	G	7: 119,550,333 (GRCm39)	C3318R	probably damaging	Het
Fyco1	A	T	9: 123,655,713 (GRCm39)	M1015K	probably benign	Het
Hfm1	A	G	5: 107,020,196 (GRCm39)	S290P	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lce1i	G	A	3: 92,685,063 (GRCm39)	P38S	unknown	Het
Nup210l	T	A	3: 90,088,852 (GRCm39)	S1156T	probably damaging	Het
Or8g35	A	T	9: 39,381,234 (GRCm39)	S263T	possibly damaging	Het
Sec14l5	T	A	16: 4,998,697 (GRCm39)	I579N	probably benign	Het
Semp2l2a	A	T	8: 13,887,212 (GRCm39)	L293Q	probably damaging	Het
Tmprss11a	T	G	5: 86,576,511 (GRCm39)	R113S	probably benign	Het
Trmt10b	A	G	4: 45,300,445 (GRCm39)	M1V	probably null	Het
Ush1c	T	C	7: 45,850,406 (GRCm39)	E791G	probably damaging	Het
Uspl1	T	C	5: 149,138,606 (GRCm39)	L328P	probably damaging	Het
Utrn	G	T	10: 12,519,163 (GRCm39)	T2263K	probably damaging	Het

Other mutations in Sh3tc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Sh3tc1	APN	5	35,868,301 (GRCm39)	missense	probably damaging	1.00
IGL01019:Sh3tc1	APN	5	35,860,719 (GRCm39)	missense	probably damaging	1.00
IGL01725:Sh3tc1	APN	5	35,857,660 (GRCm39)	missense	probably benign	0.08
IGL02069:Sh3tc1	APN	5	35,876,339 (GRCm39)	missense	probably benign	0.45
IGL02153:Sh3tc1	APN	5	35,860,696 (GRCm39)	missense	probably damaging	1.00
IGL02269:Sh3tc1	APN	5	35,863,628 (GRCm39)	missense	probably benign	0.21
IGL02609:Sh3tc1	APN	5	35,864,516 (GRCm39)	missense	probably damaging	0.99
IGL02984:Sh3tc1	UTSW	5	35,871,403 (GRCm39)	splice site	probably null
R0280:Sh3tc1	UTSW	5	35,863,361 (GRCm39)	missense	probably damaging	1.00
R0305:Sh3tc1	UTSW	5	35,881,343 (GRCm39)	missense	probably benign
R0322:Sh3tc1	UTSW	5	35,863,905 (GRCm39)	missense	possibly damaging	0.86
R0485:Sh3tc1	UTSW	5	35,859,356 (GRCm39)	splice site	probably benign
R0511:Sh3tc1	UTSW	5	35,860,806 (GRCm39)	missense	probably damaging	1.00
R0513:Sh3tc1	UTSW	5	35,857,651 (GRCm39)	missense	possibly damaging	0.87
R0523:Sh3tc1	UTSW	5	35,881,410 (GRCm39)	small deletion	probably benign
R0550:Sh3tc1	UTSW	5	35,857,128 (GRCm39)	missense	probably damaging	0.99
R0676:Sh3tc1	UTSW	5	35,876,458 (GRCm39)	splice site	probably benign
R1485:Sh3tc1	UTSW	5	35,876,370 (GRCm39)	missense	probably benign	0.00
R1559:Sh3tc1	UTSW	5	35,860,693 (GRCm39)	critical splice donor site	probably null
R1599:Sh3tc1	UTSW	5	35,864,856 (GRCm39)	missense	probably benign	0.05
R1759:Sh3tc1	UTSW	5	35,863,248 (GRCm39)	missense	possibly damaging	0.95
R1808:Sh3tc1	UTSW	5	35,863,268 (GRCm39)	missense	probably benign	0.01
R1816:Sh3tc1	UTSW	5	35,857,928 (GRCm39)	critical splice donor site	probably null
R2036:Sh3tc1	UTSW	5	35,873,508 (GRCm39)	missense	probably benign	0.01
R2092:Sh3tc1	UTSW	5	35,858,002 (GRCm39)	missense	probably damaging	1.00
R4258:Sh3tc1	UTSW	5	35,864,322 (GRCm39)	missense	probably benign	0.00
R4556:Sh3tc1	UTSW	5	35,864,426 (GRCm39)	missense	probably damaging	1.00
R4647:Sh3tc1	UTSW	5	35,863,662 (GRCm39)	missense	probably damaging	1.00
R5011:Sh3tc1	UTSW	5	35,857,633 (GRCm39)	missense	probably damaging	1.00
R5740:Sh3tc1	UTSW	5	35,864,399 (GRCm39)	missense	probably benign	0.00
R6023:Sh3tc1	UTSW	5	35,864,295 (GRCm39)	nonsense	probably null
R6164:Sh3tc1	UTSW	5	35,863,590 (GRCm39)	missense	probably benign	0.05
R6262:Sh3tc1	UTSW	5	35,857,117 (GRCm39)	missense	probably damaging	1.00
R6433:Sh3tc1	UTSW	5	35,863,941 (GRCm39)	missense	probably damaging	0.99
R6932:Sh3tc1	UTSW	5	35,864,778 (GRCm39)	missense	probably benign	0.01
R6986:Sh3tc1	UTSW	5	35,881,288 (GRCm39)	missense	probably benign
R7098:Sh3tc1	UTSW	5	35,859,358 (GRCm39)	splice site	probably null
R7502:Sh3tc1	UTSW	5	35,863,406 (GRCm39)	missense	probably damaging	0.96
R7737:Sh3tc1	UTSW	5	35,881,297 (GRCm39)	missense	probably benign	0.15
R7792:Sh3tc1	UTSW	5	35,868,295 (GRCm39)	missense	probably damaging	0.97
R8079:Sh3tc1	UTSW	5	35,864,201 (GRCm39)	missense	possibly damaging	0.78
R8154:Sh3tc1	UTSW	5	35,875,696 (GRCm39)	missense	probably damaging	1.00
R8267:Sh3tc1	UTSW	5	35,863,751 (GRCm39)	missense	probably benign	0.01
R8300:Sh3tc1	UTSW	5	35,854,792 (GRCm39)	missense	probably benign	0.00
R8416:Sh3tc1	UTSW	5	35,868,256 (GRCm39)	missense	probably damaging	0.99
R8459:Sh3tc1	UTSW	5	35,878,933 (GRCm39)	missense	probably benign
R8699:Sh3tc1	UTSW	5	35,859,235 (GRCm39)	missense	probably damaging	1.00
R8754:Sh3tc1	UTSW	5	35,863,802 (GRCm39)	missense	probably benign	0.07
R8782:Sh3tc1	UTSW	5	35,871,548 (GRCm39)	missense	possibly damaging	0.93
R9044:Sh3tc1	UTSW	5	35,854,834 (GRCm39)	missense	possibly damaging	0.84
R9047:Sh3tc1	UTSW	5	35,863,827 (GRCm39)	missense	probably benign
R9092:Sh3tc1	UTSW	5	35,874,321 (GRCm39)	missense	probably benign	0.00
R9771:Sh3tc1	UTSW	5	35,873,654 (GRCm39)	missense	probably damaging	1.00
X0061:Sh3tc1	UTSW	5	35,864,153 (GRCm39)	missense	probably damaging	1.00
Z1176:Sh3tc1	UTSW	5	35,871,573 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TCCTGAGAGGCTAACAGAGG -3'
(R):5'- ATCAAACTGCCCTTCTGAGGAC -3'

Sequencing Primer
(F):5'- CTAACAGAGGGTGGCAGGATCC -3'
(R):5'- ATACCTCTGGCCATGCAGAG -3'

Posted On

2015-02-05