Mutagenetix > Incidental Mutation

Incidental Mutation 'R0015:Fchsd1'

64920

Institutional Source

Beutler Lab

Gene Symbol

Fchsd1

Ensembl Gene

ENSMUSG00000038524

Gene Name

FCH and double SH3 domains 1

Synonyms

A030002D08Rik

MMRRC Submission

038310-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R0015 (G1)

Quality Score

139

Status

Validated

Chromosome

Chromosomal Location

37957431-37969774 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37962959 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 533 (C533R)

Ref Sequence

ENSEMBL: ENSMUSP00000047878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043437] [ENSMUST00000070709] [ENSMUST00000091932] [ENSMUST00000163128] [ENSMUST00000163131] [ENSMUST00000163591] [ENSMUST00000164222] [ENSMUST00000166148] [ENSMUST00000176902] [ENSMUST00000169498] [ENSMUST00000177058] [ENSMUST00000176104] [ENSMUST00000168056]

AlphaFold

Q6PFY1

Predicted Effect

probably benign
Transcript: ENSMUST00000043437
AA Change: C533R

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524
AA Change: C533R

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: ENSMUST00000070709

SMART Domains

Protein: ENSMUSP00000070280
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	1.2e-22	PFAM
low complexity region	194	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091932

SMART Domains

Protein: ENSMUSP00000089552
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	8.3e-23	PFAM
low complexity region	194	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163128

SMART Domains

Protein: ENSMUSP00000127234
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	5.2e-24	PFAM

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: ENSMUST00000163591

SMART Domains

Protein: ENSMUSP00000129299
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
low complexity region	103	121	N/A	INTRINSIC

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

noncoding transcript
Transcript: ENSMUST00000164499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165643

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166973

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168136

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166727

Predicted Effect

probably benign
Transcript: ENSMUST00000176902

SMART Domains

Protein: ENSMUSP00000135176
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
low complexity region	103	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169498

SMART Domains

Protein: ENSMUSP00000128949
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
low complexity region	103	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177058

SMART Domains

Protein: ENSMUSP00000135615
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	1.2e-22	PFAM
low complexity region	194	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176104

SMART Domains

Protein: ENSMUSP00000135556
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	60	3.3e-22	PFAM
low complexity region	194	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168056

SMART Domains

Protein: ENSMUSP00000130051
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	1.9e-23	PFAM
low complexity region	104	116	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

97% (71/73)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,186,184	R408H	probably damaging	Het
A130050O07Rik	A	G	1: 137,928,656	Y23C	unknown	Het
Adcy3	G	A	12: 4,195,260		probably null	Het
Aldh6a1	G	A	12: 84,441,780	L86F	probably damaging	Het
Arl10	G	T	13: 54,575,957		probably benign	Het
Armc3	A	G	2: 19,296,321		probably null	Het
Astn2	T	G	4: 66,266,382		probably null	Het
Cacna1d	G	A	14: 30,114,971	T804I	probably benign	Het
Ccny	A	C	18: 9,316,682		probably benign	Het
Cdh5	C	T	8: 104,140,927	T612I	probably benign	Het
Cfap58	A	G	19: 48,029,100	M800V	probably benign	Het
Clrn1	A	T	3: 58,846,427	I171K	probably damaging	Het
Cnp	T	A	11: 100,578,908		probably null	Het
Col12a1	T	C	9: 79,651,385	T1933A	probably damaging	Het
Cwf19l2	A	G	9: 3,454,666	S660G	probably benign	Het
Dync1i2	C	A	2: 71,214,484	R13S	probably damaging	Het
Eps8l1	A	T	7: 4,477,557		probably benign	Het
Espn	T	C	4: 152,139,152	T188A	possibly damaging	Het
F2	T	C	2: 91,630,607	E260G	probably benign	Het
Fat4	T	A	3: 38,982,503	S3435T	probably damaging	Het
Fstl5	G	A	3: 76,322,191	V100M	probably damaging	Het
Gls2	T	G	10: 128,209,350	L572R	probably damaging	Het
Gm20939	A	T	17: 94,876,768	E281D	probably benign	Het
Gpr35	T	G	1: 92,983,232	L222W	probably damaging	Het
Hsf5	C	A	11: 87,657,335	H615N	probably benign	Het
Id2	C	T	12: 25,095,803	D70N	probably damaging	Het
Ints2	T	C	11: 86,249,287	T240A	probably damaging	Het
Kcnn3	A	C	3: 89,662,773	D631A	probably damaging	Het
Klhdc8a	A	G	1: 132,303,005	T203A	probably damaging	Het
Lama4	C	T	10: 39,075,436	T1059M	possibly damaging	Het
Lgals8	A	G	13: 12,447,298	L226P	probably damaging	Het
Lifr	T	A	15: 7,188,186		probably null	Het
Lonp1	T	A	17: 56,618,406	Q462L	probably benign	Het
Lypd1	A	G	1: 125,910,438	V48A	possibly damaging	Het
Mapkapk2	A	G	1: 131,097,326	I67T	possibly damaging	Het
Mbd3l1	A	T	9: 18,484,858	D93V	probably benign	Het
Mdh1b	T	C	1: 63,721,800		probably benign	Het
Myh7b	C	T	2: 155,622,286	P569L	probably damaging	Het
Ncapd3	C	A	9: 27,051,809	A470E	probably damaging	Het
Ndrg2	A	G	14: 51,910,445		probably benign	Het
Nprl2	A	T	9: 107,544,419	I209F	probably damaging	Het
Ntrk1	A	G	3: 87,791,750		probably benign	Het
Olfm2	T	C	9: 20,668,741	E268G	probably damaging	Het
Olfr884	T	A	9: 38,047,667	Y148*	probably null	Het
Pcf11	T	A	7: 92,658,317	H881L	probably benign	Het
Pde10a	A	G	17: 8,977,197	D640G	probably damaging	Het
Pde9a	G	A	17: 31,386,356		probably null	Het
Pianp	G	T	6: 125,001,540	G236V	probably damaging	Het
Polr2g	A	G	19: 8,793,652	I160T	probably damaging	Het
Ppp1r3a	A	G	6: 14,717,661	S1085P	possibly damaging	Het
Pter	G	A	2: 13,001,000	G328D	probably damaging	Het
Rad51	T	A	2: 119,116,327	M5K	probably benign	Het
Rbm43	T	A	2: 51,925,667	I181F	probably benign	Het
Rgs12	T	C	5: 35,022,776		probably benign	Het
Rnf213	A	C	11: 119,441,606	D2547A	possibly damaging	Het
Slc20a2	C	A	8: 22,535,345	A21E	probably damaging	Het
Stab2	A	G	10: 86,843,617	S2503P	probably benign	Het
Sv2b	A	T	7: 75,125,641	F479L	probably damaging	Het
Sybu	T	C	15: 44,673,500	R349G	probably damaging	Het
Tead3	T	C	17: 28,341,351	Y2C	probably damaging	Het
Tnrc6c	T	A	11: 117,721,458	N307K	probably damaging	Het
Ubxn11	C	G	4: 134,116,025		probably null	Het
Ust	T	C	10: 8,330,065		probably benign	Het
Vmn2r116	T	A	17: 23,401,849	N852K	probably benign	Het
Zgrf1	T	C	3: 127,555,397		probably benign	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
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
R8140:Fchsd1	UTSW	18	37964342	missense	probably damaging	1.00
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
R9745:Fchsd1	UTSW	18	37969372	missense	probably benign	0.01
X0024:Fchsd1	UTSW	18	37969391	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCAGTTCCTCTACCAGGAGAGATG -3'
(R):5'- GGCAAAACTTGACTCGTTCCCTGTG -3'

Sequencing Primer
(F):5'- TGCCCCTTCAGGGAAACTTAG -3'
(R):5'- TGAGGATGAGCTGACCATCAC -3'

Posted On

2013-08-06