Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00234:Sh3tc1'

2414

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh3tc1

Ensembl Gene

ENSMUSG00000036553

Gene Name

SH3 domain and tetratricopeptide repeats 1

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL00234

Quality Score

Status

Chromosome

Chromosomal Location

35854524-35897331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 35868301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 388 (S388A)

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: S388A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: S388A

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: S326A

SMART Domains

Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: S326A

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: S388A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: S388A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl4	T	C	17: 34,000,242 (GRCm39)	N42S	probably damaging	Het
Apoc4	A	T	7: 19,412,665 (GRCm39)	S27T	probably benign	Het
Atp13a3	T	A	16: 30,170,097 (GRCm39)	Q363L	probably damaging	Het
Cfap69	A	G	5: 5,667,295 (GRCm39)	Y417H	probably benign	Het
Cry1	A	G	10: 84,982,698 (GRCm39)	S243P	probably benign	Het
Epb41l2	A	G	10: 25,377,734 (GRCm39)	T116A	probably damaging	Het
Foxb1	A	G	9: 69,667,480 (GRCm39)	S17P	probably damaging	Het
Glb1l3	A	T	9: 26,764,967 (GRCm39)	L148H	probably damaging	Het
Hnrnpk	T	C	13: 58,543,111 (GRCm39)		probably benign	Het
Icam5	G	A	9: 20,948,091 (GRCm39)		probably null	Het
Lats1	A	G	10: 7,567,330 (GRCm39)	I34V	probably damaging	Het
Lipc	A	T	9: 70,727,719 (GRCm39)	Y43N	possibly damaging	Het
Maml3	A	G	3: 51,598,125 (GRCm39)	I207T	probably benign	Het
Nfatc2	A	T	2: 168,346,810 (GRCm39)	S761R	probably damaging	Het
Nubp1	G	A	16: 10,240,703 (GRCm39)	G280S	probably damaging	Het
Or4d2	T	G	11: 87,784,191 (GRCm39)	R186S	possibly damaging	Het
Pabpc4	A	G	4: 123,180,497 (GRCm39)	N73S	probably damaging	Het
Pcsk6	G	A	7: 65,577,568 (GRCm39)	C163Y	probably damaging	Het
Phf3	G	A	1: 30,850,928 (GRCm39)	T1142M	probably damaging	Het
Prune2	T	A	19: 17,145,708 (GRCm39)		probably null	Het
Psmd7	A	G	8: 108,312,342 (GRCm39)	V85A	probably damaging	Het
Rc3h2	A	G	2: 37,279,759 (GRCm39)	V490A	possibly damaging	Het
Trank1	T	C	9: 111,221,677 (GRCm39)	F2805L	probably damaging	Het
Yars2	T	C	16: 16,121,185 (GRCm39)	L113P	probably damaging	Het
Zfp82	G	A	7: 29,765,755 (GRCm39)	S16L	probably damaging	Het

Other mutations in Sh3tc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2944:Sh3tc1	UTSW	5	35,871,504 (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

Posted On

2011-12-09