Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:Fscn3'

480995

Institutional Source

Beutler Lab

Gene Symbol

Fscn3

Ensembl Gene

ENSMUSG00000029707

Gene Name

fascin actin-bundling protein 3

Synonyms

OTTMUSP00000023543; fascin (testis); fascin 3

MMRRC Submission

044173-MU

Accession Numbers

Genbank: NM_019569; MGI:1890386

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R5994 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28427789-28438622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28430295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 155 (S155C)

Ref Sequence

ENSEMBL: ENSMUSP00000031719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020717] [ENSMUST00000031719] [ENSMUST00000064377] [ENSMUST00000169841]

AlphaFold

Q9QXW4

Predicted Effect

probably benign
Transcript: ENSMUST00000020717

SMART Domains

Protein: ENSMUSP00000020717
Gene: ENSMUSG00000020440

Domain	Start	End	E-Value	Type
ARF	1	180	5.83e-121	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000031719
AA Change: S155C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031719
Gene: ENSMUSG00000029707
AA Change: S155C

Domain	Start	End	E-Value	Type
Pfam:Fascin	24	138	1e-29	PFAM
SCOP:d1dfca2	146	260	2e-48	SMART
Pfam:Fascin	271	381	2.1e-26	PFAM
SCOP:d1dfca4	386	498	3e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000064377

SMART Domains

Protein: ENSMUSP00000067395
Gene: ENSMUSG00000029708

Domain	Start	End	E-Value	Type
coiled coil region	13	61	N/A	INTRINSIC
low complexity region	93	109	N/A	INTRINSIC
low complexity region	130	153	N/A	INTRINSIC
coiled coil region	156	315	N/A	INTRINSIC
low complexity region	408	418	N/A	INTRINSIC
low complexity region	432	443	N/A	INTRINSIC
low complexity region	479	491	N/A	INTRINSIC
Blast:H2B	492	590	3e-8	BLAST
low complexity region	613	631	N/A	INTRINSIC
coiled coil region	659	701	N/A	INTRINSIC
Grip	719	766	8.28e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147036

Predicted Effect

probably benign
Transcript: ENSMUST00000169841

SMART Domains

Protein: ENSMUSP00000127281
Gene: ENSMUSG00000020440

Domain	Start	End	E-Value	Type
ARF	1	180	5.83e-121	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,670,903	H1118L	probably benign	Het
Abca8b	A	G	11: 109,949,766		probably null	Het
Abcb5	A	T	12: 118,965,260		probably null	Het
Adcy6	A	T	15: 98,593,664	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,429,070	C312S	probably damaging	Het
Ano8	C	T	8: 71,484,834	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,881,376	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,496,961	L195P	probably damaging	Het
Cfap54	A	G	10: 93,039,081	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,995,820		probably benign	Het
Cyp4x1	T	C	4: 115,121,945	I152V	probably benign	Het
Dglucy	G	A	12: 100,842,700	R219Q	probably benign	Het
Disp3	G	T	4: 148,254,284	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,501,153	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,478,496	I105N	probably damaging	Het
Eepd1	C	T	9: 25,603,453	P519S	probably damaging	Het
Gm10134	A	T	2: 28,506,246	E51V	probably damaging	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Golga7	T	C	8: 23,250,265	E83G	probably benign	Het
Gpr12	T	C	5: 146,583,431	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,164,392	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,332,300	S3282P	unknown	Het
Ift74	C	A	4: 94,691,724	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,041	R420L	probably damaging	Het
Krt77	T	A	15: 101,862,855	I338F	probably damaging	Het
Limch1	A	T	5: 66,974,622	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,541,496	H270L	probably benign	Het
Myrf	A	T	19: 10,219,117	L504Q	probably null	Het
Nckipsd	A	G	9: 108,813,977	Q366R	probably benign	Het
Npy5r	A	T	8: 66,682,099	V14D	probably benign	Het
Nrap	T	A	19: 56,351,599	R830*	probably null	Het
Ogfrl1	A	T	1: 23,378,989	Y103N	probably damaging	Het
Olfr978	A	T	9: 39,994,223	R138*	probably null	Het
P2rx4	T	A	5: 122,725,079	L232H	probably damaging	Het
Pabpc2	A	T	18: 39,773,894	T71S	probably benign	Het
Paip2b	C	A	6: 83,808,885	S121I	probably damaging	Het
Pofut1	C	T	2: 153,261,229	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,210,992	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,850,336	H371Q	probably benign	Het
Prrc2c	A	T	1: 162,674,156		probably null	Het
Psd3	C	T	8: 67,719,968	A894T	probably damaging	Het
Pygm	A	T	19: 6,398,043		probably null	Het
Pzp	A	T	6: 128,491,597	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,361,453	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,850,160	F575L	probably benign	Het
Rassf6	A	G	5: 90,617,768	L28S	probably damaging	Het
Rbp3	G	T	14: 33,954,900	K268N	probably damaging	Het
Rela	C	T	19: 5,647,064	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,496,910	S102R	probably damaging	Het
Scarf2	A	G	16: 17,806,379	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,587,483	I241T	probably damaging	Het
Sept7	T	C	9: 25,288,198	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,407,570	F191L	probably damaging	Het
Siglec15	C	A	18: 78,047,375	C236F	probably damaging	Het
Slc11a2	T	C	15: 100,397,681	T520A	probably benign	Het
Slc26a11	C	A	11: 119,379,912	F553L	probably benign	Het
Smchd1	G	A	17: 71,365,409	P1596S	possibly damaging	Het
Taar7b	A	G	10: 24,000,348	H137R	probably damaging	Het
Thap12	T	A	7: 98,716,030	C468*	probably null	Het
Timp4	C	T	6: 115,247,354	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,511,266	K48E	probably damaging	Het
Trmt10a	T	A	3: 138,156,714	I255N	probably damaging	Het
Ttll10	T	C	4: 156,048,732		probably null	Het
Ube4b	A	G	4: 149,372,932	Y283H	probably damaging	Het
Ucp1	G	T	8: 83,293,938	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596		probably benign	Het
Vps13b	T	C	15: 35,875,772	S2768P	probably damaging	Het
Zcchc6	T	G	13: 59,789,209	Y806S	probably damaging	Het
Zfp101	T	A	17: 33,380,962	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464	V2527M	possibly damaging	Het
Zfp503	T	A	14: 21,985,562	T429S	possibly damaging	Het

Other mutations in Fscn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Fscn3	APN	6	28430506	missense	probably benign	0.43
IGL01312:Fscn3	APN	6	28434470	missense	probably damaging	0.99
IGL01634:Fscn3	APN	6	28430538	missense	probably damaging	1.00
IGL01899:Fscn3	APN	6	28436079	missense	probably damaging	1.00
IGL01928:Fscn3	APN	6	28430182	missense	possibly damaging	0.65
IGL02334:Fscn3	APN	6	28428154	splice site	probably null
IGL02959:Fscn3	APN	6	28435998	missense	possibly damaging	0.93
IGL03201:Fscn3	APN	6	28430605	missense	probably benign	0.07
IGL03202:Fscn3	APN	6	28434452	missense	probably benign	0.10
IGL03227:Fscn3	APN	6	28434430	missense	probably benign	0.00
0152:Fscn3	UTSW	6	28429967	unclassified	probably benign
R1478:Fscn3	UTSW	6	28430568	missense	probably benign
R1502:Fscn3	UTSW	6	28435623	missense	probably benign	0.05
R1955:Fscn3	UTSW	6	28430236	missense	possibly damaging	0.82
R2122:Fscn3	UTSW	6	28430389	missense	probably benign	0.18
R2135:Fscn3	UTSW	6	28431584	missense	probably benign	0.02
R3713:Fscn3	UTSW	6	28428092	missense	possibly damaging	0.89
R3715:Fscn3	UTSW	6	28428092	missense	possibly damaging	0.89
R3778:Fscn3	UTSW	6	28430032	missense	possibly damaging	0.72
R4572:Fscn3	UTSW	6	28430635	splice site	probably null
R4745:Fscn3	UTSW	6	28435628	missense	probably damaging	0.98
R4764:Fscn3	UTSW	6	28436201	makesense	probably null
R4794:Fscn3	UTSW	6	28430596	missense	probably damaging	1.00
R5738:Fscn3	UTSW	6	28430031	missense	possibly damaging	0.56
R5951:Fscn3	UTSW	6	28436174	missense	possibly damaging	0.88
R6595:Fscn3	UTSW	6	28430175	missense	probably damaging	1.00
R7323:Fscn3	UTSW	6	28431545	missense	possibly damaging	0.53
R7738:Fscn3	UTSW	6	28434446	missense	probably benign	0.01
R7840:Fscn3	UTSW	6	28430176	missense	probably damaging	1.00
R8169:Fscn3	UTSW	6	28430329	missense	possibly damaging	0.79
R8991:Fscn3	UTSW	6	28434473	missense	probably benign
R9111:Fscn3	UTSW	6	28430311	missense	probably damaging	0.98
R9350:Fscn3	UTSW	6	28430433	nonsense	probably null
R9370:Fscn3	UTSW	6	28434536	missense	probably benign
R9410:Fscn3	UTSW	6	28430433	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCAGGCCAAGAACTAGTC -3'
(R):5'- CATGTGAAAAGCTGTCTGTGATG -3'

Sequencing Primer
(F):5'- GAACTAGTCACCACGGATGCTTC -3'
(R):5'- AAAAGCTGTCTGTGATGAGCGTTG -3'

Posted On

2017-06-26