Mutagenetix > Incidental Mutation

Incidental Mutation 'R4569:Fchsd2'

342003

Institutional Source

Beutler Lab

Gene Symbol

Fchsd2

Ensembl Gene

ENSMUSG00000030691

Gene Name

FCH and double SH3 domains 2

Synonyms

Sh3md3

MMRRC Submission

041793-MU

Accession Numbers

Essential gene?

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

Stock #

R4569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100757836-100933613 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100926809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 657 (G657D)

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: G657D

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032931
Gene: ENSMUSG00000030691
AA Change: G657D

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: G633D

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095850
Gene: ENSMUSG00000030691
AA Change: G633D

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

0.1036

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (87/88)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,275,262 (GRCm39)	T322A	probably benign	Het
Abhd13	C	T	8: 10,038,071 (GRCm39)	P223S	possibly damaging	Het
Adgra3	T	A	5: 50,117,905 (GRCm39)	L1214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd13a	C	A	5: 114,927,373 (GRCm39)	P120Q	probably damaging	Het
Apbb1ip	A	G	2: 22,739,556 (GRCm39)	Y277C	probably damaging	Het
Arfgap1	T	C	2: 180,618,166 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,290,343 (GRCm39)	V1746D	probably damaging	Het
C1qtnf7	T	A	5: 43,766,549 (GRCm39)	N49K	possibly damaging	Het
Cacnb2	A	T	2: 14,990,811 (GRCm39)	D587V	possibly damaging	Het
Ccar2	A	T	14: 70,389,359 (GRCm39)		probably null	Het
Cdk2ap2	T	C	19: 4,147,879 (GRCm39)	F49L	possibly damaging	Het
Cdon	A	T	9: 35,388,265 (GRCm39)	I747F	probably damaging	Het
Cyp19a1	G	A	9: 54,100,607 (GRCm39)	P27S	probably benign	Het
Cyp4v3	T	A	8: 45,760,029 (GRCm39)	R508W	probably damaging	Het
Dclk1	T	C	3: 55,154,831 (GRCm39)	L87P	probably damaging	Het
Ddx41	G	A	13: 55,683,834 (GRCm39)	R66C	possibly damaging	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dnah7a	G	A	1: 53,450,818 (GRCm39)	P3871S	probably benign	Het
Dnhd1	A	G	7: 105,306,373 (GRCm39)		probably null	Het
Dph1	A	T	11: 75,069,721 (GRCm39)		probably benign	Het
Egln2	A	G	7: 26,859,008 (GRCm39)	I382T	probably damaging	Het
Enpp3	A	G	10: 24,652,780 (GRCm39)	Y726H	probably damaging	Het
Fbxo32	A	G	15: 58,044,873 (GRCm39)	F353L	probably damaging	Het
Fer1l4	T	A	2: 155,878,559 (GRCm39)	E44V	possibly damaging	Het
Gjb2	C	T	14: 57,337,762 (GRCm39)	V149I	probably benign	Het
Glipr1l1	A	G	10: 111,898,317 (GRCm39)	M141V	probably benign	Het
Gnaq	T	C	19: 16,312,370 (GRCm39)	S211P	probably damaging	Het
Gnl1	A	G	17: 36,299,142 (GRCm39)	R527G	probably benign	Het
Gns	A	G	10: 121,217,083 (GRCm39)	Q286R	probably benign	Het
Gon4l	T	C	3: 88,817,397 (GRCm39)		probably benign	Het
Gpr107	T	C	2: 31,097,677 (GRCm39)		probably benign	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Gtf2ird1	A	T	5: 134,439,857 (GRCm39)	D124E	probably damaging	Het
Hbp1	T	A	12: 32,000,231 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,230,875 (GRCm39)	T371I	unknown	Het
Ints2	A	G	11: 86,147,024 (GRCm39)	C41R	probably damaging	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Jph4	G	T	14: 55,352,503 (GRCm39)	R77S	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhl12	A	T	1: 134,413,507 (GRCm39)	I331F	probably benign	Het
Map4k4	G	A	1: 40,039,698 (GRCm39)	R30Q	probably damaging	Het
Mgst1	C	A	6: 138,133,213 (GRCm39)	T176K	probably damaging	Het
Negr1	C	A	3: 156,914,013 (GRCm39)		probably benign	Het
Nrg1	C	T	8: 32,407,802 (GRCm39)	V144I	probably benign	Het
Ntmt2	T	A	1: 163,530,586 (GRCm39)	*284C	probably null	Het
Or1ad8	T	C	11: 50,898,381 (GRCm39)	I194T	possibly damaging	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
Pex11b	A	T	3: 96,551,330 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 20,994,593 (GRCm39)		probably benign	Het
Ppip5k1	C	T	2: 121,174,044 (GRCm39)	R359Q	possibly damaging	Het
Prickle2	T	C	6: 92,399,323 (GRCm39)	I185V	probably benign	Het
Prrc2a	G	A	17: 35,377,473 (GRCm39)	P562S	unknown	Het
Rdx	A	G	9: 51,980,141 (GRCm39)	I245V	probably benign	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rhob	T	G	12: 8,549,373 (GRCm39)	D87A	probably damaging	Het
Ros1	T	A	10: 52,040,090 (GRCm39)	E300D	probably damaging	Het
Sbf2	A	G	7: 109,948,060 (GRCm39)		probably null	Het
Sipa1l3	G	T	7: 29,025,287 (GRCm39)	P619Q	probably damaging	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Ston2	T	A	12: 91,606,496 (GRCm39)	*896C	probably null	Het
Stradb	C	T	1: 59,019,117 (GRCm39)	R13*	probably null	Het
Tbx21	G	A	11: 97,005,581 (GRCm39)	A128V	probably benign	Het
Tep1	A	T	14: 51,062,197 (GRCm39)	C2552S	probably benign	Het
Tgif1	A	T	17: 71,151,912 (GRCm39)	V233E	possibly damaging	Het
Trim31	A	T	17: 37,209,633 (GRCm39)	I130L	probably benign	Het
Trrap	C	T	5: 144,728,928 (GRCm39)	T614I	probably benign	Het
Ttn	C	A	2: 76,766,758 (GRCm39)	V3107F	probably damaging	Het
Txnrd2	T	G	16: 18,274,956 (GRCm39)	D322E	probably benign	Het
Unc45b	T	A	11: 82,827,315 (GRCm39)		probably null	Het
Usp43	C	T	11: 67,789,788 (GRCm39)	C252Y	probably damaging	Het
Usp43	A	T	11: 67,766,178 (GRCm39)	L744*	probably null	Het
Vmn2r71	A	C	7: 85,273,402 (GRCm39)	K739Q	possibly damaging	Het
Vps16	C	T	2: 130,284,124 (GRCm39)	T653M	probably benign	Het
Wdr83os	T	A	8: 85,808,495 (GRCm39)	S82R	probably damaging	Het
Xpo6	T	A	7: 125,727,427 (GRCm39)	L526F	probably damaging	Het
Zfhx4	G	A	3: 5,466,894 (GRCm39)	V2351I	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly 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
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
R7418:Fchsd2	UTSW	7	100,920,831 (GRCm39)	missense	possibly damaging	0.56
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'- AGCACTTTATGATTATGAGGGCC -3'
(R):5'- TGTGGAAGCTAGCTGGAAAC -3'

Sequencing Primer
(F):5'- CTTTATGATTATGAGGGCCAGACAG -3'
(R):5'- TCACCTTTCAAATGTCCTATGAAACC -3'

Posted On

2015-09-24