Mutagenetix > Incidental Mutation

Incidental Mutation 'R7418:Fchsd2'

575457

Institutional Source

Beutler Lab

Gene Symbol

Fchsd2

Ensembl Gene

ENSMUSG00000030691

Gene Name

FCH and double SH3 domains 2

Synonyms

Sh3md3

MMRRC Submission

045496-MU

Accession Numbers

Essential gene?

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

Stock #

R7418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100757836-100933613 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100920831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 479 (V479F)

Ref Sequence

ENSEMBL: ENSMUSP00000032931 (fasta)

Gene Model

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

AlphaFold

Q3USJ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032931
AA Change: V479F

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
AA Change: V479F

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: V455F

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
AA Change: V455F

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

Meta Mutation Damage Score

0.1258

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (66/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apaf1	T	G	10: 90,859,697 (GRCm39)	H827P	probably benign	Het
Atp8b3	A	T	10: 80,365,926 (GRCm39)	L308Q	probably damaging	Het
Ccdc180	T	C	4: 45,904,616 (GRCm39)	L404P	probably damaging	Het
Cdh13	G	A	8: 120,039,264 (GRCm39)	G569R	probably damaging	Het
Clec14a	G	A	12: 58,315,433 (GRCm39)	T63I	probably damaging	Het
Cngb1	G	T	8: 96,004,887 (GRCm39)	S487*	probably null	Het
Cog5	A	T	12: 31,883,240 (GRCm39)	N390Y	probably damaging	Het
Col6a4	C	T	9: 105,900,114 (GRCm39)	G1670S	probably damaging	Het
Daxx	T	A	17: 34,129,579 (GRCm39)	D53E	probably benign	Het
Dnah14	C	T	1: 181,444,307 (GRCm39)	T539I	possibly damaging	Het
Dnajc2	A	G	5: 21,965,622 (GRCm39)		probably null	Het
Ehmt1	C	T	2: 24,774,646 (GRCm39)	G53R	probably benign	Het
Eif2b1	T	A	5: 124,714,893 (GRCm39)	N113Y	probably benign	Het
Eya3	A	G	4: 132,408,159 (GRCm39)	T152A	possibly damaging	Het
Fam234b	G	A	6: 135,194,009 (GRCm39)	V221M	probably benign	Het
Fbxl13	T	A	5: 21,786,981 (GRCm39)	T319S	probably benign	Het
Fgd5	T	C	6: 92,001,519 (GRCm39)	S905P	probably benign	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Fxn	C	T	19: 24,257,860 (GRCm39)	V24I	probably benign	Het
Gapvd1	C	T	2: 34,615,130 (GRCm39)	D456N	probably benign	Het
Gm128	C	T	3: 95,147,878 (GRCm39)	V139M	possibly damaging	Het
Gm973	A	G	1: 59,565,972 (GRCm39)	T64A	probably damaging	Het
Gtf2h5	T	A	17: 6,134,903 (GRCm39)	N64K	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Haus6	A	G	4: 86,513,010 (GRCm39)	S386P	possibly damaging	Het
Hsh2d	A	G	8: 72,950,638 (GRCm39)		probably null	Het
Htt	T	C	5: 34,947,697 (GRCm39)	M125T	possibly damaging	Het
Inpp5d	T	A	1: 87,635,933 (GRCm39)		probably null	Het
Ints4	G	A	7: 97,140,179 (GRCm39)	A137T	probably benign	Het
Isl2	A	G	9: 55,451,636 (GRCm39)	D263G	probably benign	Het
Itgb5	T	G	16: 33,705,464 (GRCm39)	D251E	probably damaging	Het
Jpt1	A	T	11: 115,389,095 (GRCm39)	L116Q	probably damaging	Het
Kansl2	A	G	15: 98,429,775 (GRCm39)	S86P	possibly damaging	Het
Kat2b	G	T	17: 53,917,953 (GRCm39)	R104I	possibly damaging	Het
Kcna10	C	A	3: 107,102,362 (GRCm39)	A331D	probably benign	Het
Kcnk3	G	A	5: 30,779,675 (GRCm39)	V242M	possibly damaging	Het
Kdm4a	A	G	4: 118,017,440 (GRCm39)	L542P	probably damaging	Het
Kif20b	T	C	19: 34,907,087 (GRCm39)	F119L	probably damaging	Het
Krtcap3	A	T	5: 31,409,881 (GRCm39)	H149L	probably benign	Het
Lhx4	A	G	1: 155,586,005 (GRCm39)	V102A	probably damaging	Het
Luc7l	T	A	17: 26,472,156 (GRCm39)		probably benign	Het
Myh15	G	T	16: 48,975,900 (GRCm39)	A1323S	possibly damaging	Het
Myl1	T	A	1: 66,965,338 (GRCm39)	R151S	unknown	Het
Naif1	A	G	2: 32,342,583 (GRCm39)	S45G	probably benign	Het
Ndst4	C	T	3: 125,501,800 (GRCm39)	T121I	probably damaging	Het
Neurod6	C	T	6: 55,656,283 (GRCm39)	R118Q	probably damaging	Het
Npl	A	T	1: 153,413,257 (GRCm39)		probably null	Het
Nr4a3	T	C	4: 48,051,476 (GRCm39)	Y77H	probably damaging	Het
Or4a81	A	T	2: 89,619,320 (GRCm39)	C125*	probably null	Het
Or4b1	T	G	2: 89,979,831 (GRCm39)	D173A	probably damaging	Het
Pex11a	G	A	7: 79,392,735 (GRCm39)		probably benign	Het
Rab44	T	A	17: 29,359,470 (GRCm39)	F553I	unknown	Het
Sbf2	C	T	7: 109,965,028 (GRCm39)	R1002H	probably damaging	Het
Sectm1a	C	A	11: 120,960,119 (GRCm39)		probably null	Het
Slit3	G	A	11: 35,577,255 (GRCm39)	V1163M	possibly damaging	Het
Sphk2	G	A	7: 45,361,180 (GRCm39)	R275C	probably damaging	Het
Tango6	A	G	8: 107,415,466 (GRCm39)	S96G	probably benign	Het
Tg	A	G	15: 66,568,432 (GRCm39)	E1373G	probably damaging	Het
Traf3ip1	T	A	1: 91,435,458 (GRCm39)		probably null	Het
Trp53	T	C	11: 69,479,214 (GRCm39)	F131L	probably damaging	Het
Ttc21a	A	T	9: 119,788,117 (GRCm39)	E847D	probably benign	Het
Ttn	A	G	2: 76,602,791 (GRCm39)	F18477S	probably damaging	Het
Usp25	A	T	16: 76,910,730 (GRCm39)	R929*	probably null	Het
Usp49	G	T	17: 47,983,093 (GRCm39)	E33*	probably null	Het
Vmn1r63	A	G	7: 5,806,554 (GRCm39)	V26A	possibly damaging	Het
Vmn1r74	A	T	7: 11,581,081 (GRCm39)	Y127F	possibly damaging	Het
Wdfy3	C	T	5: 102,105,366 (GRCm39)	V154I	probably benign	Het
Xdh	A	G	17: 74,220,960 (GRCm39)	S590P	possibly damaging	Het
Zkscan4	A	G	13: 21,668,799 (GRCm39)	K446E	probably 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
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
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'- CCCAGCCTGGTGTTTTACTC -3'
(R):5'- TCAACAGATGGCAGCTTTGT -3'

Sequencing Primer
(F):5'- GTCTCACTATGTAGCCCGTAAATGG -3'
(R):5'- CAGTGTAAGCAGATGCAG -3'

Posted On

2019-10-07