Mutagenetix > Incidental Mutation

Incidental Mutation 'R6764:Fgd5'

531815

Institutional Source

Beutler Lab

Gene Symbol

Fgd5

Ensembl Gene

ENSMUSG00000034037

Gene Name

FYVE, RhoGEF and PH domain containing 5

Synonyms

C330025N11Rik, ZFYVE23

MMRRC Submission

044880-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R6764 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91955859-92052985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91966402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 720 (N720K)

Ref Sequence

ENSEMBL: ENSMUSP00000109093 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000089334
AA Change: N878K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: N878K

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 damaging
Transcript: ENSMUST00000113466
AA Change: N720K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: N720K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (39/39)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	G	T	11: 53,290,657 (GRCm39)	R539L	probably damaging	Het
Aox1	T	A	1: 58,389,441 (GRCm39)	Y1147N	probably damaging	Het
Arhgef25	A	G	10: 127,019,970 (GRCm39)	F423L	probably damaging	Het
Atp1a2	A	T	1: 172,112,181 (GRCm39)	D571E	probably benign	Het
Bank1	A	G	3: 135,948,701 (GRCm39)	S159P	probably damaging	Het
Bcan	C	A	3: 87,895,685 (GRCm39)	R817L	probably damaging	Het
Cacna1g	A	G	11: 94,304,014 (GRCm39)	S1990P	possibly damaging	Het
Ccna1	G	A	3: 54,953,499 (GRCm39)	T368M	probably damaging	Het
Chia1	T	C	3: 106,038,056 (GRCm39)		probably null	Het
Ctbp1	T	C	5: 33,416,589 (GRCm39)	H136R	possibly damaging	Het
Dner	T	G	1: 84,472,502 (GRCm39)	D366A	probably damaging	Het
Eif3d	A	T	15: 77,845,886 (GRCm39)	D378E	probably damaging	Het
Evpl	A	G	11: 116,113,770 (GRCm39)	S1307P	probably damaging	Het
Fmn1	A	G	2: 113,355,560 (GRCm39)	E667G	unknown	Het
Gm4846	A	G	1: 166,319,121 (GRCm39)	C206R	probably benign	Het
Grpel1	G	A	5: 36,622,569 (GRCm39)	R11H	probably benign	Het
Gsn	A	G	2: 35,174,056 (GRCm39)	Y55C	probably damaging	Het
Hephl1	G	A	9: 15,000,217 (GRCm39)	T345I	possibly damaging	Het
Ints2	T	A	11: 86,103,605 (GRCm39)	K1150N	probably benign	Het
Itga4	C	A	2: 79,155,958 (GRCm39)	H975N	probably benign	Het
Musk	T	C	4: 58,354,027 (GRCm39)	V360A	probably damaging	Het
Naalad2	A	T	9: 18,314,185 (GRCm39)		probably benign	Het
Ninj2	G	T	6: 120,175,011 (GRCm39)	A51S	probably benign	Het
Nscme3l	A	G	19: 5,552,900 (GRCm39)	S294P	probably damaging	Het
Pcdhac1	T	C	18: 37,223,732 (GRCm39)	Y182H	probably damaging	Het
Pitpnm3	A	G	11: 71,942,059 (GRCm39)	F916S	probably damaging	Het
Sfrp5	T	A	19: 42,188,238 (GRCm39)	M194L	probably benign	Het
Sigirr	C	T	7: 140,673,155 (GRCm39)	V99I	probably benign	Het
Smco2	A	G	6: 146,772,827 (GRCm39)	D343G	probably damaging	Het
Snap91	A	G	9: 86,674,234 (GRCm39)	I584T	probably benign	Het
Syne1	G	A	10: 5,179,011 (GRCm39)	Q4488*	probably null	Het
Tbc1d24	A	C	17: 24,404,754 (GRCm39)	F130C	possibly damaging	Het
Trpm7	A	G	2: 126,686,340 (GRCm39)	V296A	possibly damaging	Het
Ttll11	T	C	2: 35,780,460 (GRCm39)		probably null	Het
Vmn2r115	A	G	17: 23,565,046 (GRCm39)	D311G	probably damaging	Het
Vmn2r63	A	G	7: 42,552,695 (GRCm39)	S854P	probably damaging	Het
Zfp330	C	T	8: 83,493,934 (GRCm39)	C109Y	probably damaging	Het
Zfp534	C	T	4: 147,759,175 (GRCm39)	G498D	probably benign	Het
Zfp62	A	G	11: 49,105,996 (GRCm39)	D29G	probably damaging	Het

Other mutations in Fgd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Fgd5	APN	6	91,965,440 (GRCm39)	missense	possibly damaging	0.63
IGL01354:Fgd5	APN	6	92,038,824 (GRCm39)	nonsense	probably null
IGL01597:Fgd5	APN	6	91,964,910 (GRCm39)	missense	probably damaging	1.00
IGL01648:Fgd5	APN	6	91,966,340 (GRCm39)	nonsense	probably null
IGL01781:Fgd5	APN	6	91,965,698 (GRCm39)	missense	possibly damaging	0.88
IGL01977:Fgd5	APN	6	92,001,543 (GRCm39)	missense	probably benign	0.20
IGL02053:Fgd5	APN	6	92,030,225 (GRCm39)	missense	probably benign	0.03
IGL02206:Fgd5	APN	6	91,964,239 (GRCm39)	utr 5 prime	probably benign
IGL02825:Fgd5	APN	6	92,015,068 (GRCm39)	splice site	probably null
IGL02838:Fgd5	APN	6	91,964,655 (GRCm39)	missense	probably benign
IGL03126:Fgd5	APN	6	92,042,145 (GRCm39)	missense	probably damaging	1.00
IGL03369:Fgd5	APN	6	91,965,396 (GRCm39)	missense	probably damaging	1.00
hygeia	UTSW	6	91,966,281 (GRCm39)	missense	probably damaging	1.00
Imploded	UTSW	6	92,026,912 (GRCm39)	splice site	probably null
R0029:Fgd5	UTSW	6	92,044,539 (GRCm39)	missense	probably benign	0.04
R0109:Fgd5	UTSW	6	91,965,216 (GRCm39)	missense	possibly damaging	0.74
R0109:Fgd5	UTSW	6	91,965,216 (GRCm39)	missense	possibly damaging	0.74
R0212:Fgd5	UTSW	6	91,965,189 (GRCm39)	missense	probably damaging	1.00
R1148:Fgd5	UTSW	6	91,964,612 (GRCm39)	missense	probably benign
R1148:Fgd5	UTSW	6	91,964,612 (GRCm39)	missense	probably benign
R1159:Fgd5	UTSW	6	91,965,483 (GRCm39)	missense	probably benign	0.00
R1199:Fgd5	UTSW	6	91,963,959 (GRCm39)	missense	possibly damaging	0.87
R1493:Fgd5	UTSW	6	91,964,612 (GRCm39)	missense	probably benign
R1602:Fgd5	UTSW	6	92,043,165 (GRCm39)	missense	possibly damaging	0.95
R1953:Fgd5	UTSW	6	92,001,611 (GRCm39)	missense	probably benign	0.31
R2280:Fgd5	UTSW	6	91,965,926 (GRCm39)	missense	possibly damaging	0.86
R2437:Fgd5	UTSW	6	92,039,850 (GRCm39)	nonsense	probably null
R2883:Fgd5	UTSW	6	91,964,090 (GRCm39)	splice site	probably null
R4133:Fgd5	UTSW	6	92,046,418 (GRCm39)	missense	probably damaging	1.00
R4454:Fgd5	UTSW	6	91,966,167 (GRCm39)	missense	probably damaging	1.00
R4491:Fgd5	UTSW	6	91,966,280 (GRCm39)	missense	possibly damaging	0.90
R4606:Fgd5	UTSW	6	91,965,190 (GRCm39)	missense	possibly damaging	0.67
R4981:Fgd5	UTSW	6	91,966,281 (GRCm39)	missense	probably damaging	1.00
R5162:Fgd5	UTSW	6	92,051,215 (GRCm39)	missense	probably damaging	1.00
R5525:Fgd5	UTSW	6	92,043,228 (GRCm39)	missense	probably damaging	1.00
R5570:Fgd5	UTSW	6	91,965,668 (GRCm39)	missense	probably damaging	1.00
R5936:Fgd5	UTSW	6	91,964,892 (GRCm39)	missense	probably damaging	0.98
R6012:Fgd5	UTSW	6	91,966,322 (GRCm39)	missense	possibly damaging	0.95
R6723:Fgd5	UTSW	6	91,965,011 (GRCm39)	missense	probably benign
R7187:Fgd5	UTSW	6	91,965,272 (GRCm39)	missense	possibly damaging	0.54
R7383:Fgd5	UTSW	6	91,964,099 (GRCm39)	missense	probably benign	0.01
R7418:Fgd5	UTSW	6	92,001,519 (GRCm39)	missense	probably benign	0.11
R7662:Fgd5	UTSW	6	92,026,912 (GRCm39)	splice site	probably null
R7788:Fgd5	UTSW	6	91,965,440 (GRCm39)	missense	possibly damaging	0.63
R7882:Fgd5	UTSW	6	92,045,459 (GRCm39)	missense	probably damaging	1.00
R7895:Fgd5	UTSW	6	91,964,262 (GRCm39)	missense	probably benign	0.03
R8041:Fgd5	UTSW	6	92,038,837 (GRCm39)	missense	probably damaging	0.98
R8053:Fgd5	UTSW	6	91,966,425 (GRCm39)	missense	probably benign	0.34
R8176:Fgd5	UTSW	6	91,964,965 (GRCm39)	missense	probably benign	0.13
R8243:Fgd5	UTSW	6	91,966,004 (GRCm39)	missense	possibly damaging	0.93
R8318:Fgd5	UTSW	6	91,964,477 (GRCm39)	missense	probably benign	0.17
R8772:Fgd5	UTSW	6	92,027,400 (GRCm39)	missense	probably damaging	0.99
R8804:Fgd5	UTSW	6	91,964,507 (GRCm39)	missense	probably benign
R9036:Fgd5	UTSW	6	92,046,447 (GRCm39)	nonsense	probably null
R9041:Fgd5	UTSW	6	91,964,427 (GRCm39)	missense	probably benign	0.15
R9173:Fgd5	UTSW	6	92,044,584 (GRCm39)	critical splice donor site	probably null
R9206:Fgd5	UTSW	6	92,015,191 (GRCm39)	missense	probably damaging	1.00
R9424:Fgd5	UTSW	6	91,956,017 (GRCm39)	nonsense	probably null
R9437:Fgd5	UTSW	6	91,964,627 (GRCm39)	missense	probably benign	0.07
R9715:Fgd5	UTSW	6	91,965,290 (GRCm39)	missense	possibly damaging	0.91
R9721:Fgd5	UTSW	6	91,965,278 (GRCm39)	missense	probably benign	0.09
X0064:Fgd5	UTSW	6	92,027,021 (GRCm39)	missense	probably benign	0.02
Z1176:Fgd5	UTSW	6	91,965,870 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACTTCGGACTATGAGAACATTC -3'
(R):5'- AGACAAGCTACTCCAGTCTTCC -3'

Sequencing Primer
(F):5'- GGACTATGAGAACATTCCAGCCATG -3'
(R):5'- CACTTCCCAGGTGAAGTGACAG -3'

Posted On

2018-08-29