Mutagenetix > Incidental Mutation

Incidental Mutation 'R9721:Fgd5'

730784

Institutional Source

Beutler Lab

Gene Symbol

Fgd5

Ensembl Gene

ENSMUSG00000034037

Gene Name

FYVE, RhoGEF and PH domain containing 5

Synonyms

C330025N11Rik, ZFYVE23

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R9721 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91978878-92076004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91988297 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 504 (T504S)

Ref Sequence

ENSEMBL: ENSMUSP00000086748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089334] [ENSMUST00000113466]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000089334
AA Change: T504S

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: T504S

Domain	Start	End	E-Value	Type
low complexity region	7	16	N/A	INTRINSIC
internal_repeat_1	126	169	2.6e-7	PROSPERO
internal_repeat_1	164	198	2.6e-7	PROSPERO
low complexity region	201	222	N/A	INTRINSIC
low complexity region	254	269	N/A	INTRINSIC
low complexity region	321	332	N/A	INTRINSIC
low complexity region	426	442	N/A	INTRINSIC
low complexity region	453	475	N/A	INTRINSIC
low complexity region	652	663	N/A	INTRINSIC
low complexity region	695	705	N/A	INTRINSIC
low complexity region	727	736	N/A	INTRINSIC
low complexity region	879	894	N/A	INTRINSIC
low complexity region	914	928	N/A	INTRINSIC
Pfam:RhoGEF	946	1134	2.2e-28	PFAM
PH	1165	1260	4.93e-13	SMART
FYVE	1285	1353	2.51e-16	SMART
low complexity region	1368	1390	N/A	INTRINSIC
PH	1416	1514	2.77e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113466
AA Change: T346S

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: T346S

Domain	Start	End	E-Value	Type
low complexity region	43	64	N/A	INTRINSIC
low complexity region	96	111	N/A	INTRINSIC
low complexity region	163	174	N/A	INTRINSIC
low complexity region	268	284	N/A	INTRINSIC
low complexity region	295	317	N/A	INTRINSIC
low complexity region	494	505	N/A	INTRINSIC
low complexity region	537	547	N/A	INTRINSIC
low complexity region	569	578	N/A	INTRINSIC
low complexity region	721	736	N/A	INTRINSIC
low complexity region	756	770	N/A	INTRINSIC
Pfam:RhoGEF	788	976	1.6e-27	PFAM
PH	1007	1102	4.93e-13	SMART
FYVE	1127	1195	2.51e-16	SMART
low complexity region	1210	1232	N/A	INTRINSIC
PH	1258	1356	2.77e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous disruption of this gene leads to complete embryonic lethality during organogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,419,283	Y120N	probably benign	Het
2410089E03Rik	A	G	15: 8,225,409	T27A	unknown	Het
4931428F04Rik	A	T	8: 105,283,188	D376E	probably benign	Het
AI314180	A	T	4: 58,850,938	S412T	probably benign	Het
Alox8	T	A	11: 69,197,085	H131L	probably benign	Het
Atp13a1	A	G	8: 69,799,437	E588G	probably damaging	Het
AU040320	G	A	4: 126,839,648	V654M	probably damaging	Het
Bicra	A	G	7: 15,979,176	L982P	probably damaging	Het
Cdh11	A	T	8: 102,679,625	V72E	probably damaging	Het
Cfap65	T	C	1: 74,919,342	T869A	probably benign	Het
Ddx19a	A	G	8: 110,978,475	F338S	probably damaging	Het
Dhrs7c	T	A	11: 67,815,078	V219E	probably damaging	Het
Dhx33	A	G	11: 71,001,598	V115A	probably damaging	Het
Dst	A	G	1: 34,192,785	D3153G	probably benign	Het
Eif5b	T	C	1: 38,037,659		probably null	Het
Ep300	A	G	15: 81,608,315	N284S	unknown	Het
Fam83a	A	G	15: 57,986,117	N19S	probably benign	Het
Flt4	G	A	11: 49,644,433		probably null	Het
Ggta1	G	T	2: 35,413,406	D91E	probably benign	Het
Gls	A	G	1: 52,212,268	V310A	probably damaging	Het
Gm13178	A	T	4: 144,703,372	V349D	possibly damaging	Het
Gm5414	A	T	15: 101,628,147	C14*	probably null	Het
Gm906	T	C	13: 50,246,652	Y546C	possibly damaging	Het
Gm9887	C	G	12: 69,371,855	A202P	unknown	Het
Ifi214	T	C	1: 173,527,913	T110A	possibly damaging	Het
Il4i1	A	G	7: 44,839,689	R293G	probably benign	Het
Itpr1	A	T	6: 108,406,102	T1464S	probably damaging	Het
Kif18a	T	C	2: 109,293,055	S225P	probably damaging	Het
Kif21a	A	T	15: 90,971,127	I678N	probably damaging	Het
Klf11	T	A	12: 24,660,241	D429E	probably damaging	Het
Kntc1	A	G	5: 123,801,885	T1581A	probably benign	Het
Lama2	T	C	10: 27,467,342	N45D	possibly damaging	Het
Lrrk1	T	C	7: 66,274,875	I1319V	probably damaging	Het
Ltbr	G	A	6: 125,307,385	R365W	probably damaging	Het
Malrd1	C	T	2: 15,696,827	T751I	unknown	Het
Mgat5b	T	C	11: 116,966,769	L363P	probably damaging	Het
Mphosph9	A	T	5: 124,298,675	S535R	possibly damaging	Het
Nckap5	C	T	1: 126,027,280	D512N	probably damaging	Het
Ngef	T	A	1: 87,479,135	D637V	probably damaging	Het
Nup93	T	C	8: 94,303,685	Y391H	probably damaging	Het
Olfr1215	T	C	2: 89,001,716	T191A		Het
Olfr1406	C	A	1: 173,184,348	V29F	probably benign	Het
Olfr1469	A	T	19: 13,410,970	T134S	probably benign	Het
Pcdhb4	C	A	18: 37,309,852	D738E	possibly damaging	Het
Pfpl	G	C	19: 12,428,933	E183Q	probably damaging	Het
Phactr3	G	A	2: 178,256,250	E86K	probably damaging	Het
Psd	C	T	19: 46,323,189	D351N	probably benign	Het
Pzp	A	G	6: 128,495,191		probably null	Het
Rerg	T	A	6: 137,056,417	K106*	probably null	Het
Samd9l	T	C	6: 3,375,854	E469G	possibly damaging	Het
Smok2b	C	A	17: 13,234,978	Y8*	probably null	Het
Spn	A	G	7: 127,136,265	S357P	probably benign	Het
Tek	T	G	4: 94,804,302	W216G	possibly damaging	Het
Trpm3	A	T	19: 22,889,398	H531L	probably benign	Het
Trpm6	A	G	19: 18,829,972	M1027V	probably benign	Het
Tsc2	G	A	17: 24,599,642	R1408*	probably null	Het
Unc13b	A	G	4: 43,101,869	N155D	probably benign	Het
Vmn1r52	G	A	6: 90,179,026	C104Y	probably damaging	Het
Xylt1	A	T	7: 117,549,020	E273V	probably damaging	Het
Zc3h4	C	A	7: 16,434,845	Q1035K	unknown	Het
Zcchc11	T	A	4: 108,555,581	M1493K	probably benign	Het
Zfp14	A	T	7: 30,039,184	S125R	probably benign	Het

Other mutations in Fgd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Fgd5	APN	6	91988459	missense	possibly damaging	0.63
IGL01354:Fgd5	APN	6	92061843	nonsense	probably null
IGL01597:Fgd5	APN	6	91987929	missense	probably damaging	1.00
IGL01648:Fgd5	APN	6	91989359	nonsense	probably null
IGL01781:Fgd5	APN	6	91988717	missense	possibly damaging	0.88
IGL01977:Fgd5	APN	6	92024562	missense	probably benign	0.20
IGL02053:Fgd5	APN	6	92053244	missense	probably benign	0.03
IGL02206:Fgd5	APN	6	91987258	utr 5 prime	probably benign
IGL02825:Fgd5	APN	6	92038087	splice site	probably null
IGL02838:Fgd5	APN	6	91987674	missense	probably benign
IGL03126:Fgd5	APN	6	92065164	missense	probably damaging	1.00
IGL03369:Fgd5	APN	6	91988415	missense	probably damaging	1.00
hygeia	UTSW	6	91989300	missense	probably damaging	1.00
Imploded	UTSW	6	92049931	splice site	probably null
R0029:Fgd5	UTSW	6	92067558	missense	probably benign	0.04
R0109:Fgd5	UTSW	6	91988235	missense	possibly damaging	0.74
R0109:Fgd5	UTSW	6	91988235	missense	possibly damaging	0.74
R0212:Fgd5	UTSW	6	91988208	missense	probably damaging	1.00
R1148:Fgd5	UTSW	6	91987631	missense	probably benign
R1148:Fgd5	UTSW	6	91987631	missense	probably benign
R1159:Fgd5	UTSW	6	91988502	missense	probably benign	0.00
R1199:Fgd5	UTSW	6	91986978	missense	possibly damaging	0.87
R1493:Fgd5	UTSW	6	91987631	missense	probably benign
R1602:Fgd5	UTSW	6	92066184	missense	possibly damaging	0.95
R1953:Fgd5	UTSW	6	92024630	missense	probably benign	0.31
R2280:Fgd5	UTSW	6	91988945	missense	possibly damaging	0.86
R2437:Fgd5	UTSW	6	92062869	nonsense	probably null
R2883:Fgd5	UTSW	6	91987109	splice site	probably null
R4133:Fgd5	UTSW	6	92069437	missense	probably damaging	1.00
R4454:Fgd5	UTSW	6	91989186	missense	probably damaging	1.00
R4491:Fgd5	UTSW	6	91989299	missense	possibly damaging	0.90
R4606:Fgd5	UTSW	6	91988209	missense	possibly damaging	0.67
R4981:Fgd5	UTSW	6	91989300	missense	probably damaging	1.00
R5162:Fgd5	UTSW	6	92074234	missense	probably damaging	1.00
R5525:Fgd5	UTSW	6	92066247	missense	probably damaging	1.00
R5570:Fgd5	UTSW	6	91988687	missense	probably damaging	1.00
R5936:Fgd5	UTSW	6	91987911	missense	probably damaging	0.98
R6012:Fgd5	UTSW	6	91989341	missense	possibly damaging	0.95
R6723:Fgd5	UTSW	6	91988030	missense	probably benign
R6764:Fgd5	UTSW	6	91989421	missense	probably damaging	0.96
R7187:Fgd5	UTSW	6	91988291	missense	possibly damaging	0.54
R7383:Fgd5	UTSW	6	91987118	missense	probably benign	0.01
R7418:Fgd5	UTSW	6	92024538	missense	probably benign	0.11
R7662:Fgd5	UTSW	6	92049931	splice site	probably null
R7788:Fgd5	UTSW	6	91988459	missense	possibly damaging	0.63
R7882:Fgd5	UTSW	6	92068478	missense	probably damaging	1.00
R7895:Fgd5	UTSW	6	91987281	missense	probably benign	0.03
R8041:Fgd5	UTSW	6	92061856	missense	probably damaging	0.98
R8053:Fgd5	UTSW	6	91989444	missense	probably benign	0.34
R8176:Fgd5	UTSW	6	91987984	missense	probably benign	0.13
R8243:Fgd5	UTSW	6	91989023	missense	possibly damaging	0.93
R8318:Fgd5	UTSW	6	91987496	missense	probably benign	0.17
R8772:Fgd5	UTSW	6	92050419	missense	probably damaging	0.99
R8804:Fgd5	UTSW	6	91987526	missense	probably benign
R9036:Fgd5	UTSW	6	92069466	nonsense	probably null
R9041:Fgd5	UTSW	6	91987446	missense	probably benign	0.15
R9173:Fgd5	UTSW	6	92067603	critical splice donor site	probably null
R9206:Fgd5	UTSW	6	92038210	missense	probably damaging	1.00
R9424:Fgd5	UTSW	6	91979036	nonsense	probably null
R9437:Fgd5	UTSW	6	91987646	missense	probably benign	0.07
R9715:Fgd5	UTSW	6	91988309	missense	possibly damaging	0.91
X0064:Fgd5	UTSW	6	92050040	missense	probably benign	0.02
Z1176:Fgd5	UTSW	6	91988889	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATTCCCTGCCAGATGGATC -3'
(R):5'- AGGCTTTCCCTCTGGCAATATAC -3'

Sequencing Primer
(F):5'- AGATGGATCTGGAGAGGACTC -3'
(R):5'- ACTGGTATCTCTGATGCCCATG -3'

Posted On

2022-10-06