Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00910:Fchsd2'

27787

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fchsd2

Ensembl Gene

ENSMUSG00000030691

Gene Name

FCH and double SH3 domains 2

Synonyms

Sh3md3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

IGL00910

Quality Score

Status

Chromosome

Chromosomal Location

100757836-100933613 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100926833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 641 (I641T)

Ref Sequence

ENSEMBL: ENSMUSP00000095850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032931] [ENSMUST00000098250] [ENSMUST00000207740]

AlphaFold

Q3USJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000032931
AA Change: I665T

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

SMART Domains

Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
AA Change: I665T

Domain	Start	End	E-Value	Type
Pfam:FCH	21	103	1.3e-22	PFAM
coiled coil region	379	421	N/A	INTRINSIC
low complexity region	466	474	N/A	INTRINSIC
SH3	496	553	2.39e-14	SMART
low complexity region	554	569	N/A	INTRINSIC
SH3	594	652	1.22e-20	SMART
low complexity region	676	695	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098250
AA Change: I641T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
AA Change: I641T

Domain	Start	End	E-Value	Type
Pfam:FCH	12	108	3.6e-23	PFAM
coiled coil region	355	397	N/A	INTRINSIC
low complexity region	442	450	N/A	INTRINSIC
SH3	472	529	2.39e-14	SMART
low complexity region	530	545	N/A	INTRINSIC
SH3	570	628	1.22e-20	SMART
low complexity region	652	671	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207740

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	G	15: 84,840,020 (GRCm39)	L109P	probably damaging	Het
Aacs	T	A	5: 125,585,772 (GRCm39)	M316K	probably benign	Het
Adarb2	T	C	13: 8,722,469 (GRCm39)	V375A	probably damaging	Het
Adgra2	C	A	8: 27,576,011 (GRCm39)	A13E	possibly damaging	Het
Ankrd34c	A	T	9: 89,611,079 (GRCm39)	S421T	probably benign	Het
Bpifa6	A	T	2: 153,832,386 (GRCm39)	M298L	probably benign	Het
Casq2	T	C	3: 102,017,547 (GRCm39)		probably benign	Het
Ckap5	A	G	2: 91,406,395 (GRCm39)	T762A	probably benign	Het
Dhx38	A	G	8: 110,285,666 (GRCm39)	V389A	probably benign	Het
Dnah7b	A	T	1: 46,105,889 (GRCm39)		probably benign	Het
Dnajc7	A	T	11: 100,490,017 (GRCm39)	F79L	possibly damaging	Het
Dyrk3	A	G	1: 131,064,073 (GRCm39)	I3T	possibly damaging	Het
Furin	A	G	7: 80,040,744 (GRCm39)	V698A	probably benign	Het
Lratd1	T	C	12: 14,200,527 (GRCm39)	S67G	probably benign	Het
Prl2c5	G	A	13: 13,364,061 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,559,279 (GRCm39)		probably benign	Het
Serpina6	G	T	12: 103,618,224 (GRCm39)		probably benign	Het
Slc6a2	A	G	8: 93,722,728 (GRCm39)	Y575C	probably damaging	Het
Trim9	T	C	12: 70,393,887 (GRCm39)	E19G	probably damaging	Het
Tsfm	G	T	10: 126,864,228 (GRCm39)		probably benign	Het

Other mutations in Fchsd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Fchsd2	APN	7	100,920,829 (GRCm39)	missense	probably benign	0.26
IGL02065:Fchsd2	APN	7	100,826,429 (GRCm39)	critical splice donor site	probably null
IGL02545:Fchsd2	APN	7	100,847,715 (GRCm39)	missense	probably benign
IGL02651:Fchsd2	APN	7	100,926,807 (GRCm39)	missense	possibly damaging	0.60
IGL03286:Fchsd2	APN	7	100,908,982 (GRCm39)	critical splice donor site	probably null
IGL03333:Fchsd2	APN	7	100,847,703 (GRCm39)	missense	probably damaging	0.97
R0066:Fchsd2	UTSW	7	100,927,631 (GRCm39)	missense	possibly damaging	0.60
R0066:Fchsd2	UTSW	7	100,927,631 (GRCm39)	missense	possibly damaging	0.60
R0668:Fchsd2	UTSW	7	100,846,127 (GRCm39)	missense	possibly damaging	0.63
R1281:Fchsd2	UTSW	7	100,902,759 (GRCm39)	missense	possibly damaging	0.92
R1868:Fchsd2	UTSW	7	100,899,645 (GRCm39)	splice site	probably benign
R1996:Fchsd2	UTSW	7	100,927,660 (GRCm39)	missense	probably benign	0.00
R2024:Fchsd2	UTSW	7	100,847,740 (GRCm39)	missense	possibly damaging	0.81
R2060:Fchsd2	UTSW	7	100,926,624 (GRCm39)	missense	probably benign
R2243:Fchsd2	UTSW	7	100,883,092 (GRCm39)	missense	probably benign	0.30
R3419:Fchsd2	UTSW	7	100,927,867 (GRCm39)	splice site	probably null
R3898:Fchsd2	UTSW	7	100,841,006 (GRCm39)	missense	possibly damaging	0.90
R3899:Fchsd2	UTSW	7	100,841,006 (GRCm39)	missense	possibly damaging	0.90
R3900:Fchsd2	UTSW	7	100,841,006 (GRCm39)	missense	possibly damaging	0.90
R4496:Fchsd2	UTSW	7	100,931,702 (GRCm39)	missense	probably benign	0.09
R4569:Fchsd2	UTSW	7	100,926,809 (GRCm39)	missense	possibly damaging	0.60
R4667:Fchsd2	UTSW	7	100,899,656 (GRCm39)	missense	probably damaging	1.00
R5408:Fchsd2	UTSW	7	100,920,781 (GRCm39)	missense	possibly damaging	0.82
R5449:Fchsd2	UTSW	7	100,926,731 (GRCm39)	missense	probably damaging	1.00
R5543:Fchsd2	UTSW	7	100,920,906 (GRCm39)	missense	probably damaging	1.00
R5665:Fchsd2	UTSW	7	100,759,991 (GRCm39)	missense	possibly damaging	0.50
R5894:Fchsd2	UTSW	7	100,840,959 (GRCm39)	missense	probably benign	0.08
R5936:Fchsd2	UTSW	7	100,840,908 (GRCm39)	missense	probably damaging	1.00
R6243:Fchsd2	UTSW	7	100,921,016 (GRCm39)	critical splice acceptor site	probably benign
R6244:Fchsd2	UTSW	7	100,908,983 (GRCm39)	splice site	probably null
R6247:Fchsd2	UTSW	7	100,902,747 (GRCm39)	missense	probably benign
R6932:Fchsd2	UTSW	7	100,926,621 (GRCm39)	nonsense	probably null
R7250:Fchsd2	UTSW	7	100,908,892 (GRCm39)	missense	possibly damaging	0.61
R7418:Fchsd2	UTSW	7	100,920,831 (GRCm39)	missense	possibly damaging	0.56
R7469:Fchsd2	UTSW	7	100,927,863 (GRCm39)	critical splice donor site	probably null
R7522:Fchsd2	UTSW	7	100,908,829 (GRCm39)	nonsense	probably null
R7921:Fchsd2	UTSW	7	100,899,749 (GRCm39)	missense	probably benign	0.00
R8209:Fchsd2	UTSW	7	100,931,679 (GRCm39)	missense	probably damaging	1.00
R8226:Fchsd2	UTSW	7	100,931,679 (GRCm39)	missense	probably damaging	1.00
R8285:Fchsd2	UTSW	7	100,883,128 (GRCm39)	missense	possibly damaging	0.56
R8400:Fchsd2	UTSW	7	100,902,780 (GRCm39)	missense	possibly damaging	0.78
R9561:Fchsd2	UTSW	7	100,920,778 (GRCm39)	missense	probably benign	0.22
R9794:Fchsd2	UTSW	7	100,893,410 (GRCm39)	missense	probably benign	0.09
X0028:Fchsd2	UTSW	7	100,760,011 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17