Mutagenetix > Incidental Mutation

Incidental Mutation 'R2024:Fchsd2'

220285

Institutional Source

Beutler Lab

Gene Symbol

Fchsd2

Ensembl Gene

ENSMUSG00000030691

Gene Name

FCH and double SH3 domains 2

Synonyms

Sh3md3

MMRRC Submission

040033-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R2024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100757836-100933613 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 100847740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 210 (D210A)

Ref Sequence

ENSEMBL: ENSMUSP00000095850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032931] [ENSMUST00000098250] [ENSMUST00000208439]

AlphaFold

Q3USJ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032931
AA Change: D210A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
AA Change: D210A

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

possibly damaging
Transcript: ENSMUST00000098250
AA Change: D210A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
AA Change: D210A

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

noncoding transcript
Transcript: ENSMUST00000137196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145802

Predicted Effect

probably benign
Transcript: ENSMUST00000208439

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 90.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	A	G	15: 96,259,680 (GRCm39)	D280G	probably damaging	Het
Atosa	A	G	9: 74,917,672 (GRCm39)	D757G	probably damaging	Het
Azi2	C	T	9: 117,878,390 (GRCm39)	R77*	probably null	Het
Chd8	T	C	14: 52,468,950 (GRCm39)	D556G	probably benign	Het
Cit	T	C	5: 116,085,983 (GRCm39)	M849T	probably damaging	Het
Cit	T	C	5: 116,143,899 (GRCm39)	S1923P	probably damaging	Het
Col17a1	T	A	19: 47,639,185 (GRCm39)	H1120L	probably benign	Het
Col6a5	G	T	9: 105,814,193 (GRCm39)	H606Q	unknown	Het
Dnajc2	A	C	5: 21,981,788 (GRCm39)	H45Q	probably damaging	Het
Dpp6	A	G	5: 27,914,457 (GRCm39)	D514G	possibly damaging	Het
Dync2h1	A	G	9: 7,129,062 (GRCm39)	S1818P	probably damaging	Het
Efemp1	A	T	11: 28,864,696 (GRCm39)	Y250F	possibly damaging	Het
Emc1	G	A	4: 139,088,257 (GRCm39)	E342K	possibly damaging	Het
Fam3c	T	C	6: 22,329,592 (GRCm39)	D45G	probably benign	Het
Flg	T	A	3: 93,186,722 (GRCm39)	M58K	probably damaging	Het
Gabra5	G	A	7: 57,138,698 (GRCm39)	R117C	probably damaging	Het
Gm6741	G	A	17: 91,544,309 (GRCm39)	S24N	probably benign	Het
Grin2a	T	C	16: 9,462,107 (GRCm39)	D675G	possibly damaging	Het
Hectd4	T	G	5: 121,419,981 (GRCm39)	V642G	possibly damaging	Het
Herc6	C	T	6: 57,560,317 (GRCm39)	T119M	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmgcs2	T	C	3: 98,206,530 (GRCm39)	S371P	probably damaging	Het
Idua	C	T	5: 108,828,600 (GRCm39)	A271V	probably damaging	Het
Inpp5d	T	A	1: 87,623,072 (GRCm39)	C125*	probably null	Het
Krt14	C	T	11: 100,098,044 (GRCm39)	G80R	unknown	Het
Lama5	T	C	2: 179,820,923 (GRCm39)	Y3176C	probably benign	Het
Lce1k	C	T	3: 92,713,809 (GRCm39)	C125Y	unknown	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Macf1	C	T	4: 123,265,711 (GRCm39)	A4821T	probably damaging	Het
Meioc	C	T	11: 102,566,184 (GRCm39)	A600V	probably benign	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Mms22l	A	G	4: 24,588,365 (GRCm39)	Y999C	probably damaging	Het
Ncbp3	T	A	11: 72,944,346 (GRCm39)	M116K	possibly damaging	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nkx3-1	T	C	14: 69,428,266 (GRCm39)	I38T	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or4k49	T	A	2: 111,495,168 (GRCm39)	M199K	possibly damaging	Het
Padi6	T	G	4: 140,456,279 (GRCm39)	I572L	possibly damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pkd1l2	A	G	8: 117,746,272 (GRCm39)	V1906A	probably benign	Het
Pom121	T	C	5: 135,410,404 (GRCm39)		probably benign	Het
Psmd9	T	C	5: 123,379,925 (GRCm39)	F115L	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rai1	T	C	11: 60,076,415 (GRCm39)	F160L	probably damaging	Het
Rhbdl2	A	T	4: 123,720,665 (GRCm39)	R234S	probably damaging	Het
Rnase2a	T	A	14: 51,493,245 (GRCm39)	Y40F	probably damaging	Het
Setd2	T	C	9: 110,378,201 (GRCm39)	V672A	possibly damaging	Het
Sgpp2	A	G	1: 78,393,857 (GRCm39)	I287V	probably benign	Het
Sh3pxd2a	T	C	19: 47,255,703 (GRCm39)	E1033G	probably benign	Het
Slc5a9	G	A	4: 111,747,728 (GRCm39)	T284I	probably damaging	Het
Slfn9	A	G	11: 82,872,507 (GRCm39)	L743P	probably damaging	Het
Smchd1	T	A	17: 71,677,923 (GRCm39)	N1473I	probably benign	Het
Stx1b	A	T	7: 127,414,575 (GRCm39)	D16E	probably benign	Het
Tectb	T	C	19: 55,170,361 (GRCm39)	F71L	probably damaging	Het
Tmem220	T	C	11: 66,924,979 (GRCm39)	I138T	possibly damaging	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Tnc	A	G	4: 63,882,858 (GRCm39)	V1921A	probably damaging	Het
Ubn1	T	G	16: 4,882,487 (GRCm39)	L316W	probably damaging	Het
Vwa5a	T	C	9: 38,647,357 (GRCm39)	S579P	probably damaging	Het
Xdh	A	G	17: 74,228,300 (GRCm39)	L367P	possibly damaging	Het
Zfp280b	T	C	10: 75,874,328 (GRCm39)	L69S	probably damaging	Het
Zfp990	A	C	4: 145,263,974 (GRCm39)	Y324S	possibly damaging	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
IGL00910:Fchsd2	APN	7	100,926,833 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTACTAGTTACCAGTACCCACC -3'
(R):5'- GCAAGTAATACGATAACTCAGTCTC -3'

Sequencing Primer
(F):5'- GTTCAGTCTAGACTCAGACTCAAG -3'
(R):5'- ATACGATAACTCAGTCTCTCATGC -3'

Posted On

2014-08-25