Mutagenetix > Incidental Mutations

Incidental Mutation 'R7629:Flywch1'

589570

Institutional Source

Beutler Lab

Gene Symbol

Flywch1

Ensembl Gene

ENSMUSG00000040097

Gene Name

FLYWCH-type zinc finger 1

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7629 (G1)

Quality Score

179.009

Status

Not validated

Chromosome

Chromosomal Location

23752793-23771602 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23755770 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 632 (M632T)

Ref Sequence

ENSEMBL: ENSMUSP00000040022 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000045517
AA Change: M632T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000040022
Gene: ENSMUSG00000040097
AA Change: M632T

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: M632T

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000083505
Gene: ENSMUSG00000040097
AA Change: M632T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	G	A	16: 88,707,405	T168I	probably benign	Het
2410089E03Rik	C	T	15: 8,227,067	Q2004*	probably null	Het
Abtb2	T	A	2: 103,683,493		probably null	Het
Ankrd10	A	T	8: 11,615,769	V277E	probably benign	Het
Ankrd28	C	T	14: 31,715,264	V615I	probably benign	Het
Aqr	G	A	2: 114,114,593	P1079L	probably damaging	Het
Brox	G	A	1: 183,292,504	A60V	probably damaging	Het
Copg1	T	C	6: 87,894,169	V289A	possibly damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
D430042O09Rik	T	C	7: 125,795,250	L192P	probably damaging	Het
Dido1	T	C	2: 180,661,473	N1546S	probably benign	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dmxl1	T	A	18: 49,859,270	I361N	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fhod3	T	A	18: 24,754,317	D88E	probably benign	Het
Henmt1	A	G	3: 108,958,597	T213A	probably benign	Het
Itga9	T	C	9: 118,698,446	V555A	probably benign	Het
Kif13b	C	T	14: 64,779,335	R1317*	probably null	Het
Kndc1	A	T	7: 139,895,260	E25V	probably damaging	Het
Lingo2	T	A	4: 35,708,675	D435V	possibly damaging	Het
Lrrc14b	T	A	13: 74,361,164	M375L	probably benign	Het
Lrrtm2	T	C	18: 35,214,257		probably null	Het
Mgat4c	G	A	10: 102,389,070	V382I	probably benign	Het
Mpp6	T	C	6: 50,196,623	I489T	probably benign	Het
Muc16	T	C	9: 18,566,785	T7075A	possibly damaging	Het
Myo5b	T	A	18: 74,627,254		probably null	Het
Neb	T	C	2: 52,273,961	D1995G	possibly damaging	Het
Nudt9	T	C	5: 104,050,694	V75A	possibly damaging	Het
Olfr1277	C	T	2: 111,269,876	V164I	probably benign	Het
Paf1	T	C	7: 28,395,068	Y35H	probably damaging	Het
Panx3	T	A	9: 37,661,444	Q270L	possibly damaging	Het
Pde6h	G	T	6: 136,959,319	R20L	possibly damaging	Het
Pdxk	A	G	10: 78,445,006	I200T	probably benign	Het
Ppara	A	T	15: 85,798,191	M363L	probably damaging	Het
Prmt8	A	T	6: 127,689,883	L376*	probably null	Het
Serpina1a	G	C	12: 103,853,808	T393R	probably damaging	Het
Sfxn1	C	T	13: 54,093,022	R178C	probably damaging	Het
Sirpb1c	A	T	3: 15,848,395	W7R	possibly damaging	Het
Skint5	T	C	4: 113,942,660	Y104C	probably damaging	Het
Slamf6	A	T	1: 171,936,624	T195S	probably damaging	Het
Slc2a6	T	C	2: 27,024,202	D301G	probably benign	Het
Stab2	A	T	10: 86,883,782		probably null	Het
Tctn3	C	G	19: 40,611,336	D141H	probably damaging	Het
Tnik	A	G	3: 28,661,728	N1164D	probably damaging	Het
Tpcn1	C	T	5: 120,537,937	V711I	probably benign	Het
Trim11	G	A	11: 58,978,334	G32D	probably damaging	Het
Usp32	TTTGGTTG	TTTG	11: 85,019,855		probably null	Het
Vmn1r72	T	C	7: 11,669,784	I246V	probably benign	Het
Zfp362	G	T	4: 128,786,055	R273S	probably damaging	Het
Zfp715	T	C	7: 43,301,676	D66G	possibly damaging	Het

Other mutations in Flywch1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01716:Flywch1	APN	17	23763026	missense	probably benign	0.01
IGL01843:Flywch1	APN	17	23760345	missense	possibly damaging	0.89
IGL02110:Flywch1	APN	17	23763092	splice site	probably null
IGL02586:Flywch1	APN	17	23755702	missense	probably benign	0.04
IGL02870:Flywch1	APN	17	23755902	missense	probably damaging	1.00
IGL02877:Flywch1	APN	17	23760414	missense	probably damaging	1.00
lubdub	UTSW	17	23761059	missense	possibly damaging	0.93
R0830:Flywch1	UTSW	17	23762370	missense	probably benign	0.00
R1411:Flywch1	UTSW	17	23755824	missense	probably damaging	1.00
R2044:Flywch1	UTSW	17	23762313	nonsense	probably null
R2153:Flywch1	UTSW	17	23755650	missense	probably benign	0.21
R2314:Flywch1	UTSW	17	23763026	missense	probably benign	0.01
R2497:Flywch1	UTSW	17	23755711	missense	probably benign	0.27
R3022:Flywch1	UTSW	17	23763108	missense	probably benign	0.00
R3625:Flywch1	UTSW	17	23760201	splice site	probably benign
R3691:Flywch1	UTSW	17	23763212	missense	probably damaging	0.96
R4805:Flywch1	UTSW	17	23760617	missense	probably benign	0.16
R5321:Flywch1	UTSW	17	23756651	missense	probably damaging	1.00
R7148:Flywch1	UTSW	17	23755675	missense	probably benign	0.01
R7200:Flywch1	UTSW	17	23761059	missense	possibly damaging	0.93
R8362:Flywch1	UTSW	17	23756708	missense	probably damaging	1.00
RF003:Flywch1	UTSW	17	23762166	frame shift	probably null
RF007:Flywch1	UTSW	17	23762164	frame shift	probably null
RF007:Flywch1	UTSW	17	23762171	frame shift	probably null
RF009:Flywch1	UTSW	17	23762161	frame shift	probably null
RF010:Flywch1	UTSW	17	23762175	frame shift	probably null
RF013:Flywch1	UTSW	17	23762175	frame shift	probably null
RF018:Flywch1	UTSW	17	23762166	frame shift	probably null
RF022:Flywch1	UTSW	17	23762167	frame shift	probably null
RF027:Flywch1	UTSW	17	23762158	frame shift	probably null
RF031:Flywch1	UTSW	17	23762158	frame shift	probably null
RF038:Flywch1	UTSW	17	23762164	frame shift	probably null
RF040:Flywch1	UTSW	17	23762169	frame shift	probably null
RF041:Flywch1	UTSW	17	23762161	frame shift	probably null
RF041:Flywch1	UTSW	17	23762177	frame shift	probably null
RF046:Flywch1	UTSW	17	23762169	frame shift	probably null
RF046:Flywch1	UTSW	17	23762174	frame shift	probably null
RF049:Flywch1	UTSW	17	23762171	frame shift	probably null
RF058:Flywch1	UTSW	17	23762177	frame shift	probably null
X0009:Flywch1	UTSW	17	23755655	small deletion	probably benign
X0028:Flywch1	UTSW	17	23761095	missense	probably damaging	1.00
Z1176:Flywch1	UTSW	17	23761009	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- GGCAAAGGTTCTGAAAATGCAC -3'
(R):5'- TCCTGGGATTACAGTGAGCAG -3'

Sequencing Primer
(F):5'- CAAGTTAGGCAAAAGCCCTGGTC -3'
(R):5'- TGGTGCCCTCACAGTGACTC -3'

Posted On

2019-10-24