Mutagenetix > Incidental Mutation

Incidental Mutation 'R3778:Fscn3'

271892

Institutional Source

Beutler Lab

Gene Symbol

Fscn3

Ensembl Gene

ENSMUSG00000029707

Gene Name

fascin actin-bundling protein 3

Synonyms

MMRRC Submission

040750-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R3778 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28427888-28438621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 28430031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 67 (K67T)

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

possibly damaging
Transcript: ENSMUST00000031719
AA Change: K67T

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031719
Gene: ENSMUSG00000029707
AA Change: K67T

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,618,846 (GRCm39)	L769H	probably damaging	Het
Aldh1a7	A	T	19: 20,696,675 (GRCm39)	M106K	possibly damaging	Het
Ankfn1	G	T	11: 89,332,220 (GRCm39)	P442Q	probably damaging	Het
Aox1	A	C	1: 58,092,862 (GRCm39)	D158A	possibly damaging	Het
Apc	A	G	18: 34,446,134 (GRCm39)	N976S	probably damaging	Het
Cfap54	C	T	10: 92,740,206 (GRCm39)		probably benign	Het
Cldn1	C	T	16: 26,190,216 (GRCm39)	C54Y	probably damaging	Het
Col22a1	A	T	15: 71,845,541 (GRCm39)	I407N	probably damaging	Het
Cyp2e1	T	C	7: 140,343,822 (GRCm39)	V20A	possibly damaging	Het
Erp27	A	T	6: 136,896,901 (GRCm39)	N100K	possibly damaging	Het
Fbn1	C	T	2: 125,159,006 (GRCm39)	C2253Y	probably damaging	Het
Fhip1b	T	A	7: 105,037,435 (GRCm39)	T383S	probably damaging	Het
Flnb	G	A	14: 7,915,353 (GRCm38)	V1495I	probably benign	Het
Gls	A	G	1: 52,208,071 (GRCm39)	V571A	probably benign	Het
Gm14569	T	A	X: 35,696,085 (GRCm39)	M875L	probably benign	Het
Gm4871	A	G	5: 144,966,893 (GRCm39)	S197P	probably damaging	Het
Gm7104	A	T	12: 88,252,441 (GRCm39)		noncoding transcript	Het
Gp9	A	T	6: 87,755,987 (GRCm39)	M1L	probably benign	Het
Greb1l	T	A	18: 10,469,444 (GRCm39)	L153H	possibly damaging	Het
H1f8	T	C	6: 115,926,708 (GRCm39)		probably null	Het
Hadha	A	T	5: 30,325,127 (GRCm39)	C688S	probably damaging	Het
Hif1an	A	G	19: 44,557,847 (GRCm39)	D243G	probably damaging	Het
Hmcn1	A	T	1: 150,678,575 (GRCm39)	D515E	possibly damaging	Het
Hsfy2	A	T	1: 56,675,847 (GRCm39)	V230E	possibly damaging	Het
Ighv1-72	A	T	12: 115,721,636 (GRCm39)	S107T	probably damaging	Het
Inpp4b	T	A	8: 82,768,621 (GRCm39)	V710D	possibly damaging	Het
Itpr3	A	G	17: 27,314,446 (GRCm39)	D632G	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lrig2	A	G	3: 104,365,277 (GRCm39)	I625T	probably benign	Het
Lrp2	A	T	2: 69,339,548 (GRCm39)	M1121K	probably benign	Het
Man2b2	T	C	5: 36,972,871 (GRCm39)	N548D	probably benign	Het
Mei1	T	C	15: 81,966,209 (GRCm39)	L277P	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mycbp2	T	A	14: 103,434,721 (GRCm39)	I2241F	probably damaging	Het
Nalcn	G	A	14: 123,702,128 (GRCm39)	T461M	probably damaging	Het
Ncoa6	A	G	2: 155,263,115 (GRCm39)	S440P	probably damaging	Het
Ncoa7	A	G	10: 30,565,752 (GRCm39)	Y632H	probably damaging	Het
Notch2	T	C	3: 98,053,939 (GRCm39)	S2201P	probably damaging	Het
Or10c1	T	C	17: 37,522,649 (GRCm39)	T32A	probably benign	Het
Or5p52	C	A	7: 107,501,954 (GRCm39)	A10E	probably benign	Het
Pard6g	A	T	18: 80,123,038 (GRCm39)		probably null	Het
Pask	T	A	1: 93,255,189 (GRCm39)	I294F	probably damaging	Het
Pax9	A	G	12: 56,743,533 (GRCm39)	Y60C	probably damaging	Het
Pcdh15	G	A	10: 73,782,983 (GRCm39)		probably null	Het
Pik3c2g	A	T	6: 139,599,385 (GRCm39)	Y167F	probably damaging	Het
Ppfibp2	A	G	7: 107,328,396 (GRCm39)	T476A	probably benign	Het
Ppm1e	T	C	11: 87,139,754 (GRCm39)		probably null	Het
Rsph14	T	G	10: 74,793,420 (GRCm39)	Q360P	possibly damaging	Het
Rsph14	C	G	10: 74,793,419 (GRCm39)	Q360H	possibly damaging	Het
Sec24c	A	G	14: 20,733,375 (GRCm39)	Q234R	possibly damaging	Het
Shcbp1	A	T	8: 4,786,295 (GRCm39)	N602K	probably benign	Het
Sirt5	A	G	13: 43,536,583 (GRCm39)		probably null	Het
Slc66a1	T	C	4: 139,026,293 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,750 (GRCm39)	V202L	possibly damaging	Het
Tle6	G	T	10: 81,431,987 (GRCm39)	P86T	probably benign	Het
Tmem235	A	T	11: 117,753,126 (GRCm39)	H83L	probably benign	Het
Trappc10	A	G	10: 78,036,636 (GRCm39)	V861A	possibly damaging	Het
Trpm2	A	C	10: 77,771,824 (GRCm39)	L605R	probably benign	Het
Vat1l	T	C	8: 114,963,540 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,821,941 (GRCm39)	D174A	possibly damaging	Het
Wwox	T	C	8: 115,601,347 (GRCm39)	C355R	probably benign	Het
Zfp229	A	T	17: 21,964,183 (GRCm39)	T138S	probably benign	Het

Other mutations in Fscn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01290:Fscn3	APN	6	28,430,505 (GRCm39)	missense	probably benign	0.43
IGL01312:Fscn3	APN	6	28,434,469 (GRCm39)	missense	probably damaging	0.99
IGL01634:Fscn3	APN	6	28,430,537 (GRCm39)	missense	probably damaging	1.00
IGL01899:Fscn3	APN	6	28,436,078 (GRCm39)	missense	probably damaging	1.00
IGL01928:Fscn3	APN	6	28,430,181 (GRCm39)	missense	possibly damaging	0.65
IGL02334:Fscn3	APN	6	28,428,153 (GRCm39)	splice site	probably null
IGL02959:Fscn3	APN	6	28,435,997 (GRCm39)	missense	possibly damaging	0.93
IGL03201:Fscn3	APN	6	28,430,604 (GRCm39)	missense	probably benign	0.07
IGL03202:Fscn3	APN	6	28,434,451 (GRCm39)	missense	probably benign	0.10
IGL03227:Fscn3	APN	6	28,434,429 (GRCm39)	missense	probably benign	0.00
0152:Fscn3	UTSW	6	28,429,966 (GRCm39)	unclassified	probably benign
R1478:Fscn3	UTSW	6	28,430,567 (GRCm39)	missense	probably benign
R1502:Fscn3	UTSW	6	28,435,622 (GRCm39)	missense	probably benign	0.05
R1955:Fscn3	UTSW	6	28,430,235 (GRCm39)	missense	possibly damaging	0.82
R2122:Fscn3	UTSW	6	28,430,388 (GRCm39)	missense	probably benign	0.18
R2135:Fscn3	UTSW	6	28,431,583 (GRCm39)	missense	probably benign	0.02
R3713:Fscn3	UTSW	6	28,428,091 (GRCm39)	missense	possibly damaging	0.89
R3715:Fscn3	UTSW	6	28,428,091 (GRCm39)	missense	possibly damaging	0.89
R4572:Fscn3	UTSW	6	28,430,634 (GRCm39)	splice site	probably null
R4745:Fscn3	UTSW	6	28,435,627 (GRCm39)	missense	probably damaging	0.98
R4764:Fscn3	UTSW	6	28,436,200 (GRCm39)	makesense	probably null
R4794:Fscn3	UTSW	6	28,430,595 (GRCm39)	missense	probably damaging	1.00
R5738:Fscn3	UTSW	6	28,430,030 (GRCm39)	missense	possibly damaging	0.56
R5951:Fscn3	UTSW	6	28,436,173 (GRCm39)	missense	possibly damaging	0.88
R5994:Fscn3	UTSW	6	28,430,294 (GRCm39)	missense	probably benign
R6595:Fscn3	UTSW	6	28,430,174 (GRCm39)	missense	probably damaging	1.00
R7323:Fscn3	UTSW	6	28,431,544 (GRCm39)	missense	possibly damaging	0.53
R7738:Fscn3	UTSW	6	28,434,445 (GRCm39)	missense	probably benign	0.01
R7840:Fscn3	UTSW	6	28,430,175 (GRCm39)	missense	probably damaging	1.00
R8169:Fscn3	UTSW	6	28,430,328 (GRCm39)	missense	possibly damaging	0.79
R8991:Fscn3	UTSW	6	28,434,472 (GRCm39)	missense	probably benign
R9111:Fscn3	UTSW	6	28,430,310 (GRCm39)	missense	probably damaging	0.98
R9350:Fscn3	UTSW	6	28,430,432 (GRCm39)	nonsense	probably null
R9370:Fscn3	UTSW	6	28,434,535 (GRCm39)	missense	probably benign
R9410:Fscn3	UTSW	6	28,430,432 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGTTGATTGAGCAAGAAGAC -3'
(R):5'- AGTTGCAGAATACATCCTCCCC -3'

Sequencing Primer
(F):5'- TTGAGCAAGAAGACATTCATAGC -3'
(R):5'- CCATCGGACTCAAGATAGCG -3'

Posted On

2015-03-25