Mutagenetix > Incidental Mutations

Incidental Mutation 'R8140:Fchsd1'

632507

Institutional Source

Beutler Lab

Gene Symbol

Fchsd1

Ensembl Gene

ENSMUSG00000038524

Gene Name

FCH and double SH3 domains 1

Synonyms

A030002D08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R8140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37957431-37969774 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37964342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 372 (E372G)

Ref Sequence

ENSEMBL: ENSMUSP00000047878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043437] [ENSMUST00000163131] [ENSMUST00000164222] [ENSMUST00000166148]

AlphaFold

Q6PFY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000043437
AA Change: E372G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524
AA Change: E372G

Domain	Start	End	E-Value	Type
Pfam:FCH	21	100	1.6e-19	PFAM
coiled coil region	188	209	N/A	INTRINSIC
low complexity region	346	357	N/A	INTRINSIC
SH3	469	526	1.34e-8	SMART
SH3	547	606	1.94e-14	SMART
low complexity region	622	634	N/A	INTRINSIC
low complexity region	657	686	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163131

SMART Domains

Protein: ENSMUSP00000133058
Gene: ENSMUSG00000038524

Domain	Start	End	E-Value	Type
Pfam:FCH	12	107	1.6e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164222

SMART Domains

Protein: ENSMUSP00000128481
Gene: ENSMUSG00000038524

Domain	Start	End	E-Value	Type
Pfam:FCH	12	56	2.5e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166148

SMART Domains

Protein: ENSMUSP00000129825
Gene: ENSMUSG00000038524

Domain	Start	End	E-Value	Type
Pfam:FCH	12	93	1.6e-17	PFAM

Meta Mutation Damage Score

0.1051

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,611	V230E	possibly damaging	Het
Amotl1	G	A	9: 14,572,715		probably null	Het
Atp7b	C	A	8: 22,028,560	E87D	probably damaging	Het
Bcat2	C	T	7: 45,588,351	P347L	probably damaging	Het
Brox	A	T	1: 183,293,873		probably null	Het
Cd37	A	G	7: 45,238,535	I58T	probably damaging	Het
Cep295	A	T	9: 15,341,533	M333K	probably benign	Het
Chtop	A	G	3: 90,505,393		probably null	Het
Cpa2	A	T	6: 30,544,905	K54N	probably benign	Het
Cpa6	A	G	1: 10,325,294	S383P	probably damaging	Het
Dnah7a	A	T	1: 53,501,589	I2542N	probably benign	Het
Eif5b	G	A	1: 38,051,276	V1179I	probably benign	Het
Erbin	T	C	13: 103,920,294		probably null	Het
Fastkd5	A	T	2: 130,615,250	D473E	possibly damaging	Het
Fgl1	T	C	8: 41,200,609		probably null	Het
Fzd8	T	G	18: 9,213,797	V293G	probably damaging	Het
Gm4787	T	A	12: 81,378,151	H411L	probably benign	Het
Gm49380	G	T	9: 44,111,972	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,135,290	R240C	probably damaging	Het
Hdac5	A	T	11: 102,197,355	Y948N	probably damaging	Het
Hepacam	A	G	9: 37,383,871	S301G	probably benign	Het
Htra4	A	T	8: 25,030,558	D362E	possibly damaging	Het
Ighv1-9	G	A	12: 114,583,741	P60L	probably damaging	Het
Kcnq3	A	G	15: 65,995,541	I751T	probably damaging	Het
Magi3	T	C	3: 104,034,086	Y851C	probably damaging	Het
Mefv	A	G	16: 3,713,635	S470P	probably benign	Het
Mfsd2a	C	T	4: 122,949,298	V397I	probably benign	Het
Mroh1	C	A	15: 76,433,873	H867N	probably benign	Het
Mthfd1l	C	T	10: 4,007,745	R261*	probably null	Het
Myo3a	A	G	2: 22,407,346	I725M	probably damaging	Het
Neb	T	C	2: 52,209,540	D4766G	possibly damaging	Het
Nek11	G	T	9: 105,392,957	P22Q	probably damaging	Het
Olfr1179	T	C	2: 88,402,113	T274A	possibly damaging	Het
Olfr1497	A	T	19: 13,795,239	V124E	possibly damaging	Het
Olfr178	T	C	16: 58,889,585	T212A	probably benign	Het
Peg10	C	G	6: 4,756,113	Q230E	unknown	Het
Pipox	T	C	11: 77,883,909	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,047,497	R993H	probably benign	Het
Pkdrej	A	C	15: 85,818,410	N1108K	probably damaging	Het
Polr2a	C	T	11: 69,746,376	R291Q	probably benign	Het
Pomt1	T	A	2: 32,244,297	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,299,235	S78P	probably damaging	Het
Rgl1	A	T	1: 152,557,501	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,601,774	E14G	unknown	Het
Sh3rf3	T	A	10: 59,049,355	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,322,259	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,488,690	D274E	probably damaging	Het
Syne2	T	A	12: 75,912,353	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,895,176	D2170A	probably damaging	Het
Tnr	A	G	1: 159,863,695	T472A	probably damaging	Het
Tspan9	T	C	6: 127,965,278	H203R	probably damaging	Het
Ttn	T	C	2: 76,771,651	T18556A	possibly damaging	Het
Usp25	T	A	16: 77,071,681	Y323*	probably null	Het
Usp31	G	T	7: 121,649,026	R1065S	possibly damaging	Het
Vmn2r103	A	T	17: 19,811,796	T611S	probably damaging	Het
Wdfy4	A	G	14: 33,142,360	V552A		Het
Zap70	G	T	1: 36,771,181	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,632,749	S91T	possibly damaging	Het

Other mutations in Fchsd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00590:Fchsd1	APN	18	37965893	intron	probably benign
IGL01097:Fchsd1	APN	18	37967757	splice site	probably null
IGL02069:Fchsd1	APN	18	37967614	nonsense	probably null
R0015:Fchsd1	UTSW	18	37962959	missense	probably benign	0.05
R0015:Fchsd1	UTSW	18	37962959	missense	probably benign	0.05
R0755:Fchsd1	UTSW	18	37968750	splice site	probably null
R1524:Fchsd1	UTSW	18	37965897	critical splice donor site	probably null
R2041:Fchsd1	UTSW	18	37967676	critical splice acceptor site	probably null
R3820:Fchsd1	UTSW	18	37969457	splice site	probably benign
R3821:Fchsd1	UTSW	18	37969457	splice site	probably benign
R4998:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5017:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5018:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5022:Fchsd1	UTSW	18	37964810	missense	possibly damaging	0.80
R5023:Fchsd1	UTSW	18	37964810	missense	possibly damaging	0.80
R5047:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5240:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5309:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5312:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5353:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5354:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5355:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5424:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5517:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5518:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5521:Fchsd1	UTSW	18	37966484	missense	probably damaging	1.00
R5590:Fchsd1	UTSW	18	37961327	missense	probably damaging	1.00
R5607:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5608:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5810:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5828:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5906:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5949:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5958:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R5969:Fchsd1	UTSW	18	37959873	unclassified	probably benign
R6245:Fchsd1	UTSW	18	37962775	missense	probably damaging	1.00
R6322:Fchsd1	UTSW	18	37965700	missense	probably benign	0.00
R6433:Fchsd1	UTSW	18	37964084	missense	possibly damaging	0.91
R6439:Fchsd1	UTSW	18	37969434	missense	probably damaging	0.97
R6460:Fchsd1	UTSW	18	37959844	splice site	probably null
R6488:Fchsd1	UTSW	18	37967268	splice site	probably null
R6650:Fchsd1	UTSW	18	37966502	nonsense	probably null
R7331:Fchsd1	UTSW	18	37968770	missense	possibly damaging	0.95
R7715:Fchsd1	UTSW	18	37966642	splice site	probably null
R7962:Fchsd1	UTSW	18	37964159	missense	probably damaging	0.97
R8398:Fchsd1	UTSW	18	37966524	missense	probably damaging	1.00
R8536:Fchsd1	UTSW	18	37967770	missense	probably benign	0.24
R8747:Fchsd1	UTSW	18	37962982	missense	probably benign
R9209:Fchsd1	UTSW	18	37959653	missense	unknown
X0024:Fchsd1	UTSW	18	37969391	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTCACCTGGTATGAGGCAAAAG -3'
(R):5'- GGACCATTGATGCAGACAGG -3'

Sequencing Primer
(F):5'- GAGAGTAGTACGTCCTGGCTAG -3'
(R):5'- GAGGAATGACTTCATCTCTCTGGAC -3'

Posted On

2020-06-30