Mutagenetix > Incidental Mutation

Incidental Mutation 'R0830:Flywch1'

77507

Institutional Source

Beutler Lab

Gene Symbol

Flywch1

Ensembl Gene

ENSMUSG00000040097

Gene Name

FLYWCH-type zinc finger 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23752793-23771602 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23762370 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 160 (K160E)

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: K160E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000040022
Gene: ENSMUSG00000040097
AA Change: K160E

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: K160E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000083505
Gene: ENSMUSG00000040097
AA Change: K160E

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

unknown
Transcript: ENSMUST00000227120
AA Change: K113E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228934

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.0%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,427	R145H	probably damaging	Het
2410089E03Rik	T	A	15: 8,247,185	V2771E	unknown	Het
Adam26a	C	T	8: 43,568,402	V684I	probably benign	Het
Alk	T	C	17: 72,603,200	I170M	probably benign	Het
Apc2	T	C	10: 80,315,405	Y2069H	probably damaging	Het
Aspm	A	G	1: 139,474,254	T1219A	probably damaging	Het
Bnip1	T	C	17: 26,789,705	S94P	probably benign	Het
Cftr	A	G	6: 18,270,225	I805V	probably benign	Het
Col25a1	T	A	3: 130,584,726	D609E	probably damaging	Het
Cyp2g1	A	G	7: 26,814,791	K274R	probably benign	Het
D5Ertd579e	G	A	5: 36,613,757	T1098I	probably damaging	Het
Ddx39	T	A	8: 83,719,823	C74S	possibly damaging	Het
E2f3	C	T	13: 29,985,560	A37T	probably benign	Het
Emilin2	A	G	17: 71,273,820	M637T	probably benign	Het
Exosc7	T	C	9: 123,119,293	L93P	probably benign	Het
F2	T	C	2: 91,630,200	E316G	probably benign	Het
Fat4	A	C	3: 38,999,109	Q4084P	probably benign	Het
Foxi2	A	G	7: 135,411,730	T230A	probably benign	Het
Fthl17a	A	G	X: 85,270,073	N154S	possibly damaging	Het
Hykk	G	A	9: 54,937,317	R222Q	probably damaging	Het
Il18rap	T	A	1: 40,542,990	V357E	probably damaging	Het
Ing4	A	G	6: 125,043,960	E15G	probably damaging	Het
Irak1	T	C	X: 74,016,583	D679G	probably damaging	Het
Itga1	T	C	13: 115,007,032	E321G	probably benign	Het
Kdelc2	T	G	9: 53,390,711	L32R	probably damaging	Het
Nudt1	T	A	5: 140,335,321		probably null	Het
Nupl1	A	G	14: 60,243,482	F138S	probably damaging	Het
Olfr122	A	T	17: 37,771,913	M87L	probably damaging	Het
Olfr448	G	T	6: 42,896,598	W49L	probably benign	Het
Pllp	T	C	8: 94,679,475	Y60C	probably damaging	Het
Pnpla7	T	C	2: 24,997,255	V37A	probably damaging	Het
Psme4	A	G	11: 30,807,797	H310R	possibly damaging	Het
Rasl10b	G	A	11: 83,417,839		probably null	Het
Sash1	C	T	10: 8,729,909	V906M	probably benign	Het
Scn1a	A	T	2: 66,299,784	I1212K	probably damaging	Het
Stbd1	A	T	5: 92,605,130	S160C	probably benign	Het
Tex29	T	C	8: 11,854,157	V99A	probably benign	Het
Tg	A	T	15: 66,725,144	N79I	probably damaging	Het
Tie1	T	C	4: 118,482,663	D389G	probably damaging	Het
Vmn1r178	A	G	7: 23,894,027	T167A	possibly damaging	Het
Xkr4	C	T	1: 3,670,745	G202S	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
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
R7629:Flywch1	UTSW	17	23755770	missense	probably benign	0.06
R8362:Flywch1	UTSW	17	23756708	missense	probably damaging	1.00
R8762:Flywch1	UTSW	17	23756757	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'- AGCCGTCTGACCTGTGGACTAATG -3'
(R):5'- TTCCTGTACAAGCAAGAGAAGGCTG -3'

Sequencing Primer
(F):5'- GACTTACAGCACATTTTGAGAACC -3'
(R):5'- GTGGGGGACAAGGTGTACTG -3'

Posted On

2013-10-16