Mutagenetix > Incidental Mutation

Incidental Mutation 'R8804:Fgd5'

671913

Institutional Source

Beutler Lab

Gene Symbol

Fgd5

Ensembl Gene

ENSMUSG00000034037

Gene Name

FYVE, RhoGEF and PH domain containing 5

Synonyms

C330025N11Rik, ZFYVE23

MMRRC Submission

068641-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R8804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91978878-92076004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91987526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 247 (R247C)

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: R247C

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

SMART Domains

Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: R247C

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: R89C

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

SMART Domains

Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: R89C

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

Validation Efficiency

98% (79/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	T	C	3: 19,628,656 (GRCm38)		probably benign	Het
Adamts1	A	G	16: 85,802,412 (GRCm38)	F100S	probably damaging	Het
Adamts5	A	G	16: 85,869,912 (GRCm38)		probably benign	Het
Adgrb2	T	A	4: 130,005,419 (GRCm38)	W309R	probably damaging	Het
Adgrl2	A	T	3: 148,847,016 (GRCm38)	V617E	probably damaging	Het
Akt1	T	C	12: 112,658,607 (GRCm38)	E169G	probably damaging	Het
Arhgap40	A	G	2: 158,547,706 (GRCm38)	T600A	probably benign	Het
B4galt3	C	T	1: 171,276,374 (GRCm38)	H395Y	probably benign	Het
BC024139	T	G	15: 76,124,084 (GRCm38)	T376P	possibly damaging	Het
Bin3	A	G	14: 70,123,847 (GRCm38)	R22G	probably damaging	Het
Cadps2	A	T	6: 23,496,806 (GRCm38)	I480N	probably damaging	Het
Camsap3	A	G	8: 3,602,624 (GRCm38)	T401A	probably benign	Het
Cdhr5	T	C	7: 141,269,407 (GRCm38)	T747A	probably benign	Het
Chn2	A	G	6: 54,273,076 (GRCm38)	I193V	probably benign	Het
Clca3b	T	C	3: 144,839,137 (GRCm38)	N363S	probably benign	Het
Clec7a	T	C	6: 129,465,555 (GRCm38)	T125A	probably benign	Het
Cys1	A	T	12: 24,668,611 (GRCm38)	L81Q	unknown	Het
Dcbld2	G	A	16: 58,461,049 (GRCm38)		probably benign	Het
Ddx60	T	A	8: 61,958,606 (GRCm38)	D497E	probably benign	Het
Dnah2	T	C	11: 69,465,685 (GRCm38)	I2117V	probably benign	Het
Dnah6	G	A	6: 73,065,773 (GRCm38)	S3274F	probably benign	Het
Dock9	A	T	14: 121,605,183 (GRCm38)	I1225N	probably damaging	Het
Egfr	A	G	11: 16,869,339 (GRCm38)	T290A	probably benign	Het
Elmod2	T	A	8: 83,319,521 (GRCm38)	K142N	probably benign	Het
Ephx2	T	C	14: 66,087,020 (GRCm38)	T441A	probably benign	Het
Fam234a	A	G	17: 26,216,557 (GRCm38)		probably benign	Het
Fer1l4	C	A	2: 156,051,994 (GRCm38)	E102D	probably benign	Het
Fermt3	A	G	19: 7,014,326 (GRCm38)		probably benign	Het
Gm14443	G	A	2: 175,169,859 (GRCm38)	H265Y	probably damaging	Het
Gm8251	T	C	1: 44,056,649 (GRCm38)	N1763S	probably benign	Het
Gykl1	A	G	18: 52,694,536 (GRCm38)	D272G	probably benign	Het
Hip1r	T	C	5: 124,001,512 (GRCm38)	S952P	possibly damaging	Het
Hmcn2	A	G	2: 31,425,381 (GRCm38)	N3714S	probably benign	Het
Hrasls	T	A	16: 29,220,453 (GRCm38)	V95E	probably benign	Het
Ighv1-36	G	T	12: 114,879,961 (GRCm38)	T93K	probably benign	Het
Igsf10	T	G	3: 59,336,455 (GRCm38)	T153P	probably damaging	Het
Kif13b	T	C	14: 64,750,342 (GRCm38)	C773R	probably damaging	Het
Lipf	T	A	19: 33,964,798 (GRCm38)	Y43N	probably damaging	Het
Mlh1	T	C	9: 111,264,904 (GRCm38)	D90G	probably damaging	Het
Msh5	A	T	17: 35,032,854 (GRCm38)	I410K	probably benign	Het
Mylk3	T	C	8: 85,359,245 (GRCm38)	D220G	probably benign	Het
Ncdn	G	A	4: 126,750,105 (GRCm38)	A308V	probably benign	Het
Nfu1	T	A	6: 87,016,432 (GRCm38)		probably benign	Het
Nup153	A	G	13: 46,687,159 (GRCm38)	V991A	probably benign	Het
Nup188	T	A	2: 30,330,879 (GRCm38)	H960Q	probably benign	Het
Parp4	G	T	14: 56,616,443 (GRCm38)	E839*	probably null	Het
Pfas	T	C	11: 68,991,082 (GRCm38)	N30D		Het
Pitpnc1	T	A	11: 107,212,605 (GRCm38)	N223Y	probably damaging	Het
Plod1	C	T	4: 147,913,321 (GRCm38)	V644I	probably damaging	Het
Pou2f1	T	C	1: 165,880,470 (GRCm38)	T548A	unknown	Het
Psg20	A	T	7: 18,682,659 (GRCm38)	N177K	possibly damaging	Het
Psmb8	T	A	17: 34,200,251 (GRCm38)	I173N	probably damaging	Het
Rimkla	G	A	4: 119,468,076 (GRCm38)	Q379*	probably null	Het
Rnasel	G	T	1: 153,753,915 (GRCm38)	G59V	probably damaging	Het
Rptn	A	T	3: 93,395,843 (GRCm38)	D161V	probably damaging	Het
Scrt1	C	A	15: 76,519,211 (GRCm38)	C193F	unknown	Het
Sdk2	G	T	11: 113,873,152 (GRCm38)	Y269*	probably null	Het
Sfxn2	G	C	19: 46,585,804 (GRCm38)		probably benign	Het
Slc17a4	G	T	13: 23,903,262 (GRCm38)	T264K	probably benign	Het
Slfn8	T	A	11: 83,016,813 (GRCm38)	Q301H	possibly damaging	Het
Sntb1	G	A	15: 55,792,127 (GRCm38)	S231F	probably benign	Het
Spag17	T	A	3: 99,967,190 (GRCm38)	S137T	probably benign	Het
Srd5a2	A	T	17: 74,047,634 (GRCm38)	V65E	possibly damaging	Het
Stk11ip	A	G	1: 75,535,256 (GRCm38)	H967R	probably benign	Het
Sun1	A	G	5: 139,231,165 (GRCm38)	T320A	probably benign	Het
Svep1	A	G	4: 58,206,043 (GRCm38)	S112P	possibly damaging	Het
Tacc2	T	C	7: 130,692,963 (GRCm38)	L15P	probably benign	Het
Tas2r140	T	A	6: 133,055,363 (GRCm38)	N144I	probably damaging	Het
Thpo	T	A	16: 20,725,957 (GRCm38)	R174S	probably damaging	Het
Tnik	A	T	3: 28,594,053 (GRCm38)	Q418L	unknown	Het
Tnr	A	T	1: 159,858,312 (GRCm38)	Q371L	probably benign	Het
Tulp2	G	A	7: 45,520,974 (GRCm38)	R439Q	probably damaging	Het
Uchl4	G	T	9: 64,235,324 (GRCm38)	W29L	probably damaging	Het
Vrk3	T	A	7: 44,757,846 (GRCm38)	C80*	probably null	Het
Washc4	T	C	10: 83,572,151 (GRCm38)	L540P	probably damaging	Het
Wscd1	T	C	11: 71,784,335 (GRCm38)	F356S	probably damaging	Het
Wwc1	A	T	11: 35,883,317 (GRCm38)	M372K	probably benign	Het
Zfhx2	A	G	14: 55,074,734 (GRCm38)	F168L	probably benign	Het
Zfp28	A	G	7: 6,390,400 (GRCm38)	D175G	probably damaging	Het

Other mutations in Fgd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Fgd5	APN	6	91,988,459 (GRCm38)	missense	possibly damaging	0.63
IGL01354:Fgd5	APN	6	92,061,843 (GRCm38)	nonsense	probably null
IGL01597:Fgd5	APN	6	91,987,929 (GRCm38)	missense	probably damaging	1.00
IGL01648:Fgd5	APN	6	91,989,359 (GRCm38)	nonsense	probably null
IGL01781:Fgd5	APN	6	91,988,717 (GRCm38)	missense	possibly damaging	0.88
IGL01977:Fgd5	APN	6	92,024,562 (GRCm38)	missense	probably benign	0.20
IGL02053:Fgd5	APN	6	92,053,244 (GRCm38)	missense	probably benign	0.03
IGL02206:Fgd5	APN	6	91,987,258 (GRCm38)	utr 5 prime	probably benign
IGL02825:Fgd5	APN	6	92,038,087 (GRCm38)	splice site	probably null
IGL02838:Fgd5	APN	6	91,987,674 (GRCm38)	missense	probably benign
IGL03126:Fgd5	APN	6	92,065,164 (GRCm38)	missense	probably damaging	1.00
IGL03369:Fgd5	APN	6	91,988,415 (GRCm38)	missense	probably damaging	1.00
hygeia	UTSW	6	91,989,300 (GRCm38)	missense	probably damaging	1.00
Imploded	UTSW	6	92,049,931 (GRCm38)	splice site	probably null
R0029:Fgd5	UTSW	6	92,067,558 (GRCm38)	missense	probably benign	0.04
R0109:Fgd5	UTSW	6	91,988,235 (GRCm38)	missense	possibly damaging	0.74
R0109:Fgd5	UTSW	6	91,988,235 (GRCm38)	missense	possibly damaging	0.74
R0212:Fgd5	UTSW	6	91,988,208 (GRCm38)	missense	probably damaging	1.00
R1148:Fgd5	UTSW	6	91,987,631 (GRCm38)	missense	probably benign
R1148:Fgd5	UTSW	6	91,987,631 (GRCm38)	missense	probably benign
R1159:Fgd5	UTSW	6	91,988,502 (GRCm38)	missense	probably benign	0.00
R1199:Fgd5	UTSW	6	91,986,978 (GRCm38)	missense	possibly damaging	0.87
R1493:Fgd5	UTSW	6	91,987,631 (GRCm38)	missense	probably benign
R1602:Fgd5	UTSW	6	92,066,184 (GRCm38)	missense	possibly damaging	0.95
R1953:Fgd5	UTSW	6	92,024,630 (GRCm38)	missense	probably benign	0.31
R2280:Fgd5	UTSW	6	91,988,945 (GRCm38)	missense	possibly damaging	0.86
R2437:Fgd5	UTSW	6	92,062,869 (GRCm38)	nonsense	probably null
R2883:Fgd5	UTSW	6	91,987,109 (GRCm38)	splice site	probably null
R4133:Fgd5	UTSW	6	92,069,437 (GRCm38)	missense	probably damaging	1.00
R4454:Fgd5	UTSW	6	91,989,186 (GRCm38)	missense	probably damaging	1.00
R4491:Fgd5	UTSW	6	91,989,299 (GRCm38)	missense	possibly damaging	0.90
R4606:Fgd5	UTSW	6	91,988,209 (GRCm38)	missense	possibly damaging	0.67
R4981:Fgd5	UTSW	6	91,989,300 (GRCm38)	missense	probably damaging	1.00
R5162:Fgd5	UTSW	6	92,074,234 (GRCm38)	missense	probably damaging	1.00
R5525:Fgd5	UTSW	6	92,066,247 (GRCm38)	missense	probably damaging	1.00
R5570:Fgd5	UTSW	6	91,988,687 (GRCm38)	missense	probably damaging	1.00
R5936:Fgd5	UTSW	6	91,987,911 (GRCm38)	missense	probably damaging	0.98
R6012:Fgd5	UTSW	6	91,989,341 (GRCm38)	missense	possibly damaging	0.95
R6723:Fgd5	UTSW	6	91,988,030 (GRCm38)	missense	probably benign
R6764:Fgd5	UTSW	6	91,989,421 (GRCm38)	missense	probably damaging	0.96
R7187:Fgd5	UTSW	6	91,988,291 (GRCm38)	missense	possibly damaging	0.54
R7383:Fgd5	UTSW	6	91,987,118 (GRCm38)	missense	probably benign	0.01
R7418:Fgd5	UTSW	6	92,024,538 (GRCm38)	missense	probably benign	0.11
R7662:Fgd5	UTSW	6	92,049,931 (GRCm38)	splice site	probably null
R7788:Fgd5	UTSW	6	91,988,459 (GRCm38)	missense	possibly damaging	0.63
R7882:Fgd5	UTSW	6	92,068,478 (GRCm38)	missense	probably damaging	1.00
R7895:Fgd5	UTSW	6	91,987,281 (GRCm38)	missense	probably benign	0.03
R8041:Fgd5	UTSW	6	92,061,856 (GRCm38)	missense	probably damaging	0.98
R8053:Fgd5	UTSW	6	91,989,444 (GRCm38)	missense	probably benign	0.34
R8176:Fgd5	UTSW	6	91,987,984 (GRCm38)	missense	probably benign	0.13
R8243:Fgd5	UTSW	6	91,989,023 (GRCm38)	missense	possibly damaging	0.93
R8318:Fgd5	UTSW	6	91,987,496 (GRCm38)	missense	probably benign	0.17
R8772:Fgd5	UTSW	6	92,050,419 (GRCm38)	missense	probably damaging	0.99
R9036:Fgd5	UTSW	6	92,069,466 (GRCm38)	nonsense	probably null
R9041:Fgd5	UTSW	6	91,987,446 (GRCm38)	missense	probably benign	0.15
R9173:Fgd5	UTSW	6	92,067,603 (GRCm38)	critical splice donor site	probably null
R9206:Fgd5	UTSW	6	92,038,210 (GRCm38)	missense	probably damaging	1.00
R9424:Fgd5	UTSW	6	91,979,036 (GRCm38)	nonsense	probably null
R9437:Fgd5	UTSW	6	91,987,646 (GRCm38)	missense	probably benign	0.07
R9715:Fgd5	UTSW	6	91,988,309 (GRCm38)	missense	possibly damaging	0.91
R9721:Fgd5	UTSW	6	91,988,297 (GRCm38)	missense	probably benign	0.09
X0064:Fgd5	UTSW	6	92,050,040 (GRCm38)	missense	probably benign	0.02
Z1176:Fgd5	UTSW	6	91,988,889 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCACGATCCAGAGACGGATG -3'
(R):5'- TCTTGCTCCTGGACATCTGG -3'

Sequencing Primer
(F):5'- TCCAGAGACGGATGGGACC -3'
(R):5'- ATCTGGGGACACCTCACTC -3'

Posted On

2021-04-30