Mutagenetix > Incidental Mutation

Incidental Mutation 'R3022:Flywch1'

265736

Institutional Source

Beutler Lab

Gene Symbol

Flywch1

Ensembl Gene

ENSMUSG00000040097

Gene Name

FLYWCH-type zinc finger 1

Synonyms

MMRRC Submission

040538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3022 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23971767-23990576 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23982082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 41 (R41G)

Ref Sequence

ENSEMBL: ENSMUSP00000083505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045517] [ENSMUST00000086325] [ENSMUST00000226460]

AlphaFold

Q8CI03

Predicted Effect

probably benign
Transcript: ENSMUST00000045517
AA Change: R41G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000040022
Gene: ENSMUSG00000040097
AA Change: R41G

Domain	Start	End	E-Value	Type
Pfam:FLYWCH_N	1	83	1.2e-24	PFAM
Pfam:FLYWCH	92	150	7e-17	PFAM
Pfam:FLYWCH	235	293	3.3e-17	PFAM
low complexity region	352	380	N/A	INTRINSIC
low complexity region	381	394	N/A	INTRINSIC
Pfam:FLYWCH	402	460	9.7e-18	PFAM
Pfam:FLYWCH	490	548	7.9e-18	PFAM
Pfam:FLYWCH	581	639	6.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086325
AA Change: R41G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000083505
Gene: ENSMUSG00000040097
AA Change: R41G

Domain	Start	End	E-Value	Type
Pfam:FLYWCH_N	1	84	9.7e-10	PFAM
Pfam:FLYWCH	92	150	3.8e-17	PFAM
Pfam:FLYWCH	235	293	3.1e-17	PFAM
Pfam:FLYWCH_u	294	401	1.3e-30	PFAM
Pfam:FLYWCH	402	460	9.1e-18	PFAM
Pfam:FLYWCH	490	548	6.8e-18	PFAM
Pfam:FLYWCH_u	549	568	9.1e-3	PFAM
Pfam:FLYWCH	581	639	4.7e-17	PFAM
Pfam:FLYWCH_u	640	672	4.6e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226460
AA Change: R41G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228934

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bptf	T	A	11: 107,002,463 (GRCm39)		probably null	Het
Dnah3	T	A	7: 119,677,704 (GRCm39)	I406F	possibly damaging	Het
Dnah7b	G	A	1: 46,221,583 (GRCm39)	C1229Y	probably damaging	Het
Itpkb	A	T	1: 180,245,888 (GRCm39)	T802S	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Or10aa1	A	G	1: 173,869,650 (GRCm39)	I45V	probably benign	Het
Padi2	T	A	4: 140,665,299 (GRCm39)	V468E	possibly damaging	Het
Prom1	G	A	5: 44,204,916 (GRCm39)	T177I	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Stx5a	T	C	19: 8,732,518 (GRCm39)		probably benign	Het
Vmn1r237	T	A	17: 21,534,709 (GRCm39)	I144K	probably damaging	Het

Other mutations in Flywch1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01716:Flywch1	APN	17	23,982,000 (GRCm39)	missense	probably benign	0.01
IGL01843:Flywch1	APN	17	23,979,319 (GRCm39)	missense	possibly damaging	0.89
IGL02110:Flywch1	APN	17	23,982,066 (GRCm39)	splice site	probably null
IGL02586:Flywch1	APN	17	23,974,676 (GRCm39)	missense	probably benign	0.04
IGL02870:Flywch1	APN	17	23,974,876 (GRCm39)	missense	probably damaging	1.00
IGL02877:Flywch1	APN	17	23,979,388 (GRCm39)	missense	probably damaging	1.00
lubdub	UTSW	17	23,980,033 (GRCm39)	missense	possibly damaging	0.93
R0830:Flywch1	UTSW	17	23,981,344 (GRCm39)	missense	probably benign	0.00
R1411:Flywch1	UTSW	17	23,974,798 (GRCm39)	missense	probably damaging	1.00
R2044:Flywch1	UTSW	17	23,981,287 (GRCm39)	nonsense	probably null
R2153:Flywch1	UTSW	17	23,974,624 (GRCm39)	missense	probably benign	0.21
R2314:Flywch1	UTSW	17	23,982,000 (GRCm39)	missense	probably benign	0.01
R2497:Flywch1	UTSW	17	23,974,685 (GRCm39)	missense	probably benign	0.27
R3625:Flywch1	UTSW	17	23,979,175 (GRCm39)	splice site	probably benign
R3691:Flywch1	UTSW	17	23,982,186 (GRCm39)	missense	probably damaging	0.96
R4805:Flywch1	UTSW	17	23,979,591 (GRCm39)	missense	probably benign	0.16
R5321:Flywch1	UTSW	17	23,975,625 (GRCm39)	missense	probably damaging	1.00
R7148:Flywch1	UTSW	17	23,974,649 (GRCm39)	missense	probably benign	0.01
R7200:Flywch1	UTSW	17	23,980,033 (GRCm39)	missense	possibly damaging	0.93
R7629:Flywch1	UTSW	17	23,974,744 (GRCm39)	missense	probably benign	0.06
R8362:Flywch1	UTSW	17	23,975,682 (GRCm39)	missense	probably damaging	1.00
R8762:Flywch1	UTSW	17	23,975,731 (GRCm39)	missense	probably damaging	1.00
RF003:Flywch1	UTSW	17	23,981,140 (GRCm39)	frame shift	probably null
RF007:Flywch1	UTSW	17	23,981,145 (GRCm39)	frame shift	probably null
RF007:Flywch1	UTSW	17	23,981,138 (GRCm39)	frame shift	probably null
RF009:Flywch1	UTSW	17	23,981,135 (GRCm39)	frame shift	probably null
RF010:Flywch1	UTSW	17	23,981,149 (GRCm39)	frame shift	probably null
RF013:Flywch1	UTSW	17	23,981,149 (GRCm39)	frame shift	probably null
RF018:Flywch1	UTSW	17	23,981,140 (GRCm39)	frame shift	probably null
RF022:Flywch1	UTSW	17	23,981,141 (GRCm39)	frame shift	probably null
RF027:Flywch1	UTSW	17	23,981,132 (GRCm39)	frame shift	probably null
RF031:Flywch1	UTSW	17	23,981,132 (GRCm39)	frame shift	probably null
RF038:Flywch1	UTSW	17	23,981,138 (GRCm39)	frame shift	probably null
RF040:Flywch1	UTSW	17	23,981,143 (GRCm39)	frame shift	probably null
RF041:Flywch1	UTSW	17	23,981,151 (GRCm39)	frame shift	probably null
RF041:Flywch1	UTSW	17	23,981,135 (GRCm39)	frame shift	probably null
RF046:Flywch1	UTSW	17	23,981,148 (GRCm39)	frame shift	probably null
RF046:Flywch1	UTSW	17	23,981,143 (GRCm39)	frame shift	probably null
RF049:Flywch1	UTSW	17	23,981,145 (GRCm39)	frame shift	probably null
RF058:Flywch1	UTSW	17	23,981,151 (GRCm39)	frame shift	probably null
X0009:Flywch1	UTSW	17	23,974,629 (GRCm39)	small deletion	probably benign
X0028:Flywch1	UTSW	17	23,980,069 (GRCm39)	missense	probably damaging	1.00
Z1176:Flywch1	UTSW	17	23,979,983 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- TCAACAGATTTGCCAGAGCC -3'
(R):5'- TCTTGTCTTAGGACGGAGGCTC -3'

Sequencing Primer
(F):5'- TTTGCCAGAGCCAGGATG -3'
(R):5'- TCTGGACTCCCACATTCTGAAGAG -3'

Posted On

2015-02-05