Mutagenetix > Incidental Mutation

Incidental Mutation 'R8400:Fchsd2'

647812

Institutional Source

Beutler Lab

Gene Symbol

Fchsd2

Ensembl Gene

ENSMUSG00000030691

Gene Name

FCH and double SH3 domains 2

Synonyms

Sh3md3

MMRRC Submission

067763-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R8400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101092863-101284405 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101253573 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 386 (Q386L)

Ref Sequence

ENSEMBL: ENSMUSP00000032931 (fasta)

Gene Model

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

AlphaFold

Q3USJ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032931
AA Change: Q386L

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
AA Change: Q386L

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: Q362L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
AA Change: Q362L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,293,925	M1929I	probably benign	Het
Abca13	T	C	11: 9,298,218	I2655T	probably damaging	Het
Acad10	A	G	5: 121,626,205	V887A	possibly damaging	Het
Acot10	T	C	15: 20,666,172	E161G	possibly damaging	Het
Astn1	C	T	1: 158,657,100	P919L	probably benign	Het
Atp1a4	T	A	1: 172,234,494	D688V	probably damaging	Het
C4bp	C	A	1: 130,636,747	C400F	probably damaging	Het
Col6a6	A	C	9: 105,774,796	D1005E	probably damaging	Het
Csnk1g3	C	T	18: 53,953,288	R422C	probably benign	Het
Cutc	T	C	19: 43,753,205	S15P	probably benign	Het
Dgkb	T	C	12: 38,602,838		probably null	Het
Disc1	T	C	8: 125,232,993	V748A	probably benign	Het
Dmbt1	C	G	7: 131,082,587	D778E	unknown	Het
Dmxl2	T	C	9: 54,383,753	Y2471C	probably benign	Het
Fam185a	T	A	5: 21,438,816	N243K	probably benign	Het
Gm904	C	A	13: 50,643,417	P49Q	probably damaging	Het
H2-Q10	C	T	17: 35,470,477	R59C	probably damaging	Het
Ier5l	A	G	2: 30,473,093	Y307H	possibly damaging	Het
Kmt2e	C	A	5: 23,497,092	T906K	probably benign	Het
Kndc1	C	T	7: 139,913,518	R467W	probably damaging	Het
Muc5ac	C	A	7: 141,810,476	T2508K	probably damaging	Het
Nlrp9a	A	T	7: 26,565,006	M784L	probably benign	Het
Nlrp9b	T	A	7: 20,024,012	C391*	probably null	Het
Nubp2	A	C	17: 24,884,465	M146R	probably damaging	Het
Olfr1295	A	T	2: 111,565,402	L14H	probably damaging	Het
Olfr1359	G	A	13: 21,703,915	V305M	probably benign	Het
Olfr1419	T	A	19: 11,871,214	M1L	probably damaging	Het
Olfr43	C	T	11: 74,206,395	V274M	possibly damaging	Het
Olfr694	T	A	7: 106,689,669	S21C	probably benign	Het
Olfr857	A	T	9: 19,713,093	N89Y	probably benign	Het
Otud1	T	C	2: 19,658,378	V106A	possibly damaging	Het
Pcdhac1	T	A	18: 37,092,400	Y755*	probably null	Het
Pkd1l3	C	T	8: 109,623,888	P455L	possibly damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,572		probably benign	Het
Samhd1	T	C	2: 157,099,433	E648G	probably benign	Het
Smarca5	T	C	8: 80,709,127	T794A	probably benign	Het
Spc24	A	T	9: 21,757,730	L87H	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Stra6l	G	A	4: 45,864,905	R77Q	probably damaging	Het
Tdrd1	G	A	19: 56,848,649	V472M	probably benign	Het
Tsc2	A	T	17: 24,604,987	I948K	possibly damaging	Het
Ttc39d	T	C	17: 80,216,005	V31A	probably benign	Het
Vmn1r158	A	T	7: 22,789,880	C301*	probably null	Het
Vmn2r22	A	T	6: 123,637,527	L368*	probably null	Het
Vmn2r79	A	G	7: 87,002,100	T236A	probably benign	Het
Vwa1	T	C	4: 155,772,768	H191R	probably benign	Het
Zdbf2	T	A	1: 63,304,976	V838E	possibly damaging	Het

Other mutations in Fchsd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Fchsd2	APN	7	101271622	missense	probably benign	0.26
IGL00910:Fchsd2	APN	7	101277626	missense	probably benign	0.00
IGL02065:Fchsd2	APN	7	101177222	critical splice donor site	probably null
IGL02545:Fchsd2	APN	7	101198508	missense	probably benign
IGL02651:Fchsd2	APN	7	101277600	missense	possibly damaging	0.60
IGL03286:Fchsd2	APN	7	101259775	critical splice donor site	probably null
IGL03333:Fchsd2	APN	7	101198496	missense	probably damaging	0.97
R0066:Fchsd2	UTSW	7	101278424	missense	possibly damaging	0.60
R0066:Fchsd2	UTSW	7	101278424	missense	possibly damaging	0.60
R0668:Fchsd2	UTSW	7	101196920	missense	possibly damaging	0.63
R1281:Fchsd2	UTSW	7	101253552	missense	possibly damaging	0.92
R1868:Fchsd2	UTSW	7	101250438	splice site	probably benign
R1996:Fchsd2	UTSW	7	101278453	missense	probably benign	0.00
R2024:Fchsd2	UTSW	7	101198533	missense	possibly damaging	0.81
R2060:Fchsd2	UTSW	7	101277417	missense	probably benign
R2243:Fchsd2	UTSW	7	101233885	missense	probably benign	0.30
R3419:Fchsd2	UTSW	7	101278660	splice site	probably null
R3898:Fchsd2	UTSW	7	101191799	missense	possibly damaging	0.90
R3899:Fchsd2	UTSW	7	101191799	missense	possibly damaging	0.90
R3900:Fchsd2	UTSW	7	101191799	missense	possibly damaging	0.90
R4496:Fchsd2	UTSW	7	101282495	missense	probably benign	0.09
R4569:Fchsd2	UTSW	7	101277602	missense	possibly damaging	0.60
R4667:Fchsd2	UTSW	7	101250449	missense	probably damaging	1.00
R5408:Fchsd2	UTSW	7	101271574	missense	possibly damaging	0.82
R5449:Fchsd2	UTSW	7	101277524	missense	probably damaging	1.00
R5543:Fchsd2	UTSW	7	101271699	missense	probably damaging	1.00
R5665:Fchsd2	UTSW	7	101110784	missense	possibly damaging	0.50
R5894:Fchsd2	UTSW	7	101191752	missense	probably benign	0.08
R5936:Fchsd2	UTSW	7	101191701	missense	probably damaging	1.00
R6243:Fchsd2	UTSW	7	101271809	critical splice acceptor site	probably benign
R6244:Fchsd2	UTSW	7	101259776	splice site	probably null
R6247:Fchsd2	UTSW	7	101253540	missense	probably benign
R6932:Fchsd2	UTSW	7	101277414	nonsense	probably null
R7250:Fchsd2	UTSW	7	101259685	missense	possibly damaging	0.61
R7418:Fchsd2	UTSW	7	101271624	missense	possibly damaging	0.56
R7469:Fchsd2	UTSW	7	101278656	critical splice donor site	probably null
R7522:Fchsd2	UTSW	7	101259622	nonsense	probably null
R7921:Fchsd2	UTSW	7	101250542	missense	probably benign	0.00
R8209:Fchsd2	UTSW	7	101282472	missense	probably damaging	1.00
R8226:Fchsd2	UTSW	7	101282472	missense	probably damaging	1.00
R8285:Fchsd2	UTSW	7	101233921	missense	possibly damaging	0.56
R9561:Fchsd2	UTSW	7	101271571	missense	probably benign	0.22
R9794:Fchsd2	UTSW	7	101244203	missense	probably benign	0.09
X0028:Fchsd2	UTSW	7	101110804	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGCAAAGACAAGGACTCTTCC -3'
(R):5'- ACTGTGGACACAAAGATGTTCATTG -3'

Sequencing Primer
(F):5'- GGACTCTTCCTTGTTTTGCAAC -3'
(R):5'- GGACACAAAGATGTTCATTGTCTTC -3'

Posted On

2020-09-02