Mutagenetix > Incidental Mutations

Incidental Mutation 'R7200:Flywch1'

560258

Institutional Source

Beutler Lab

Gene Symbol

Flywch1

Ensembl Gene

ENSMUSG00000040097

Gene Name

FLYWCH-type zinc finger 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7200 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23752793-23771602 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23761059 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 247 (H247R)

Ref Sequence

ENSEMBL: ENSMUSP00000040022 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045517
AA Change: H247R

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040022
Gene: ENSMUSG00000040097
AA Change: H247R

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

possibly damaging
Transcript: ENSMUST00000086325
AA Change: H247R

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083505
Gene: ENSMUSG00000040097
AA Change: H247R

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

Predicted Effect

Meta Mutation Damage Score

0.6435

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	G	11: 65,153,010	M75T	unknown	Het
2700049A03Rik	T	G	12: 71,140,906	N105K	probably damaging	Het
Acvr1c	A	T	2: 58,315,855	V31E	probably damaging	Het
Adra1d	T	A	2: 131,561,250	T307S	probably benign	Het
Akr1c14	T	C	13: 4,081,051	Y248H	probably benign	Het
Ankub1	T	C	3: 57,672,985	T84A	probably benign	Het
Asb3	C	A	11: 30,998,348	S8*	probably null	Het
AU041133	G	A	10: 82,151,101	G196D	possibly damaging	Het
B4galt7	T	C	13: 55,608,342	C214R	probably damaging	Het
Chd3	A	G	11: 69,364,095	S140P	possibly damaging	Het
Ciz1	T	C	2: 32,364,287	L80P	probably damaging	Het
Col6a4	G	A	9: 106,072,249	P729L	possibly damaging	Het
Cr2	A	G	1: 195,163,249	C133R	probably damaging	Het
Dmgdh	T	C	13: 93,691,885	L178P	probably damaging	Het
Dock5	C	A	14: 67,771,702	E1448*	probably null	Het
Elavl1	A	G	8: 4,311,767	S2P	probably benign	Het
Gabpb1	A	T	2: 126,639,302	I309N	possibly damaging	Het
Glrx3	T	C	7: 137,464,436	F298L	possibly damaging	Het
Gm9573	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,622,633		probably benign	Het
Gpc6	G	A	14: 117,964,856	V493I	probably benign	Het
H2-Bl	A	T	17: 36,081,046	I45N	possibly damaging	Het
Hadha	C	T	5: 30,145,317	E78K	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Ldlrad3	G	T	2: 102,113,558	F56L	probably damaging	Het
Ldlrad3	A	G	2: 102,113,560	F56L	probably damaging	Het
Mapk4	A	T	18: 73,930,919	S411T	possibly damaging	Het
Mcm9	A	G	10: 53,615,923	M382T		Het
Olfr1457	T	C	19: 13,095,232	T139A	probably benign	Het
Olfr720	A	T	14: 14,175,477	C202S	probably damaging	Het
Pacs1	A	C	19: 5,156,413	I248S	possibly damaging	Het
Pi16	C	A	17: 29,319,234	P7Q	possibly damaging	Het
Plekhg1	T	C	10: 3,956,810	S631P		Het
Rars2	A	T	4: 34,645,747	K221N	probably benign	Het
Retsat	T	C	6: 72,606,019	S388P	possibly damaging	Het
Rft1	G	A	14: 30,682,857		probably null	Het
Rgsl1	A	G	1: 153,785,199	V345A	probably benign	Het
Rnf38	A	T	4: 44,137,620	S320R	probably benign	Het
Sel1l3	T	A	5: 53,144,109	Y722F	probably benign	Het
Slc13a4	T	C	6: 35,287,350	E194G	possibly damaging	Het
Spata17	G	A	1: 187,112,503	R300C	probably benign	Het
Tacc1	G	A	8: 25,241,640		probably benign	Het
Tc2n	T	G	12: 101,689,055	I214L	probably damaging	Het
Tet2	T	C	3: 133,487,192	S494G	probably benign	Het
Tmco5b	A	T	2: 113,291,377	I179L	probably damaging	Het
Triobp	AGGGACAATCCCAGGGCCTCCTCTCCCAACAGAACTACTCAGCGGGACAA	AGGGACAA	15: 78,966,842		probably benign	Het
Trpv1	A	G	11: 73,239,586	T173A	probably damaging	Het
Vmn2r56	C	T	7: 12,710,332	G458R	probably damaging	Het
Vmn2r81	T	G	10: 79,270,736		probably null	Het
Wfdc15b	T	A	2: 164,215,117	E80D	probably benign	Het
Wrn	A	T	8: 33,322,348	D423E	probably benign	Het
Zfp775	T	A	6: 48,620,481	C430S	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
R7629:Flywch1	UTSW	17	23755770	missense	probably benign	0.06
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'- ATGTCATCGCAATCCTCCAAG -3'
(R):5'- TTCACACATGCCCAGCTCAG -3'

Sequencing Primer
(F):5'- AGCCCCAATTCGCCTTG -3'
(R):5'- GCTCAGGGAAATATGTCAACATCTG -3'

Posted On

2019-06-26