Mutagenetix > Incidental Mutations

Incidental Mutation 'R5665:Fchsd2'

444341

Institutional Source

Beutler Lab

Gene Symbol

Fchsd2

Ensembl Gene

ENSMUSG00000030691

Gene Name

FCH and double SH3 domains 2

Synonyms

Sh3md3

MMRRC Submission

043308-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101092863-101284405 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101110784 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 23 (T23A)

Ref Sequence

ENSEMBL: ENSMUSP00000095850 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032931
AA Change: T23A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
AA Change: T23A

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: T23A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
AA Change: T23A

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: ENSMUST00000130426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137196

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145802

Predicted Effect

probably benign
Transcript: ENSMUST00000208439
AA Change: T21A

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Acaca	G	T	11: 84,245,294	E492*	probably null	Het
Acp7	T	A	7: 28,616,543	K206M	probably benign	Het
Agbl1	T	A	7: 76,589,503	F584I	probably damaging	Het
Ahi1	A	G	10: 21,055,047	I929V	possibly damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,000,900	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,223,038	T173P	probably damaging	Het
Asap1	A	G	15: 64,312,453	S44P	probably damaging	Het
Btbd7	C	A	12: 102,785,197	A1103S	probably benign	Het
Capn10	T	A	1: 92,937,931		probably null	Het
Capn7	T	C	14: 31,369,802	F719L	probably benign	Het
Casp7	G	A	19: 56,440,982	D267N	probably benign	Het
Ccdc13	C	A	9: 121,814,290	K348N	probably damaging	Het
Chchd1	T	C	14: 20,703,110	F13L	probably benign	Het
Clcn6	T	A	4: 148,014,561	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,827,880	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,154,554	F278S	probably damaging	Het
Dhx16	C	T	17: 35,891,086	Q1002*	probably null	Het
Dppa4	T	C	16: 48,291,015	L121P	probably benign	Het
Dpyd	A	G	3: 118,917,092	E383G	probably damaging	Het
Eif4g3	A	G	4: 138,126,589	T489A	probably benign	Het
Elovl1	G	T	4: 118,431,635	V174L	probably damaging	Het
Elp3	T	C	14: 65,551,402	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,598,024	W7L	probably damaging	Het
Gabrp	C	G	11: 33,554,308	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,109,911	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,852,796	R137C	probably damaging	Het
Herc1	A	G	9: 66,465,435	E3091G	probably damaging	Het
Homer1	A	T	13: 93,356,102	M184L	probably benign	Het
Izumo1r	T	C	9: 14,900,849	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,901,909	Q590*	probably null	Het
Lama1	G	T	17: 67,770,987	C1139F	probably damaging	Het
Med29	C	T	7: 28,386,814	A190T	probably benign	Het
Mgea5	A	C	19: 45,776,997	S124A	probably benign	Het
Muc4	T	C	16: 32,750,782	V220A	probably benign	Het
Mxra8	G	T	4: 155,842,921	V388L	probably benign	Het
Myo5a	T	C	9: 75,144,181		probably null	Het
Myrip	A	G	9: 120,461,433	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,506,485	V313A	probably benign	Het
Olfm2	T	G	9: 20,668,544		probably null	Het
Olfr1113	T	A	2: 87,213,728	S279T	probably benign	Het
Olfr248	T	C	1: 174,391,375	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,626,788	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,114,811	E225G	possibly damaging	Het
Pigs	C	A	11: 78,328,769		probably null	Het
Pkhd1	T	A	1: 20,588,531	T159S	probably damaging	Het
Plk4	A	G	3: 40,813,586	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,215,722	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,159,081		probably null	Het
Pygb	T	C	2: 150,820,888		probably null	Het
Rnf114	T	C	2: 167,510,934	I118T	possibly damaging	Het
Sbno2	A	G	10: 80,058,453	L1099P	probably benign	Het
Scaper	T	C	9: 55,807,632	K791E	probably damaging	Het
Serping1	T	C	2: 84,771,545	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,321,403	S617P	possibly damaging	Het
Slk	G	A	19: 47,636,457	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,792,139	E227V	probably benign	Het
Sostdc1	C	A	12: 36,314,408	P39T	probably benign	Het
Spred1	C	T	2: 117,153,005	R16*	probably null	Het
Srpk2	A	G	5: 23,518,477	I547T	probably damaging	Het
Stt3a	A	G	9: 36,759,314	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,266,147	L272H	probably damaging	Het
Syne2	T	A	12: 76,108,217		probably null	Het
Uso1	A	T	5: 92,198,337	E793V	possibly damaging	Het
Usp15	A	T	10: 123,130,987	L476*	probably null	Het
Vmn1r189	T	C	13: 22,102,166	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,786,979	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,668,690	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,265,192	S537P	probably damaging	Het
Zbtb12	T	C	17: 34,895,883	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,113,102	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,513	D151G	probably null	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
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
R8400:Fchsd2	UTSW	7	101253573	missense	possibly damaging	0.78
X0028:Fchsd2	UTSW	7	101110804	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAATGACAGTTTGCACCCC -3'
(R):5'- TCGAAATTCTACAGCCTGAAAGC -3'

Sequencing Primer
(F):5'- GAATGACAGTTTGCACCCCTTTAAAC -3'
(R):5'- GCAGGAAATCCAAAAGGAAATTCC -3'

Posted On

2016-11-09