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: 0.196) question?

Stock #

R8804 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91955859-92052985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91964507 bp (GRCm39)

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: 19,682,820 (GRCm39)		probably benign	Het
Adamts1	A	G	16: 85,599,300 (GRCm39)	F100S	probably damaging	Het
Adamts5	A	G	16: 85,666,800 (GRCm39)		probably benign	Het
Adgrb2	T	A	4: 129,899,212 (GRCm39)	W309R	probably damaging	Het
Adgrl2	A	T	3: 148,552,652 (GRCm39)	V617E	probably damaging	Het
Akt1	T	C	12: 112,625,041 (GRCm39)	E169G	probably damaging	Het
Arhgap40	A	G	2: 158,389,626 (GRCm39)	T600A	probably benign	Het
B4galt3	C	T	1: 171,103,947 (GRCm39)	H395Y	probably benign	Het
BC024139	T	G	15: 76,008,284 (GRCm39)	T376P	possibly damaging	Het
Bin3	A	G	14: 70,361,296 (GRCm39)	R22G	probably damaging	Het
Cadps2	A	T	6: 23,496,805 (GRCm39)	I480N	probably damaging	Het
Camsap3	A	G	8: 3,652,624 (GRCm39)	T401A	probably benign	Het
Ccdc168	T	C	1: 44,095,809 (GRCm39)	N1763S	probably benign	Het
Cdhr5	T	C	7: 140,849,320 (GRCm39)	T747A	probably benign	Het
Chn2	A	G	6: 54,250,061 (GRCm39)	I193V	probably benign	Het
Clca3b	T	C	3: 144,544,898 (GRCm39)	N363S	probably benign	Het
Clec7a	T	C	6: 129,442,518 (GRCm39)	T125A	probably benign	Het
Cys1	A	T	12: 24,718,610 (GRCm39)	L81Q	unknown	Het
Dcbld2	G	A	16: 58,281,412 (GRCm39)		probably benign	Het
Ddx60	T	A	8: 62,411,640 (GRCm39)	D497E	probably benign	Het
Dnah2	T	C	11: 69,356,511 (GRCm39)	I2117V	probably benign	Het
Dnah6	G	A	6: 73,042,756 (GRCm39)	S3274F	probably benign	Het
Dock9	A	T	14: 121,842,595 (GRCm39)	I1225N	probably damaging	Het
Egfr	A	G	11: 16,819,339 (GRCm39)	T290A	probably benign	Het
Elmod2	T	A	8: 84,046,150 (GRCm39)	K142N	probably benign	Het
Ephx2	T	C	14: 66,324,469 (GRCm39)	T441A	probably benign	Het
Fam234a	A	G	17: 26,435,531 (GRCm39)		probably benign	Het
Fer1l4	C	A	2: 155,893,914 (GRCm39)	E102D	probably benign	Het
Fermt3	A	G	19: 6,991,694 (GRCm39)		probably benign	Het
Gm14443	G	A	2: 175,011,652 (GRCm39)	H265Y	probably damaging	Het
Gykl1	A	G	18: 52,827,608 (GRCm39)	D272G	probably benign	Het
Hip1r	T	C	5: 124,139,575 (GRCm39)	S952P	possibly damaging	Het
Hmcn2	A	G	2: 31,315,393 (GRCm39)	N3714S	probably benign	Het
Ighv1-36	G	T	12: 114,843,581 (GRCm39)	T93K	probably benign	Het
Igsf10	T	G	3: 59,243,876 (GRCm39)	T153P	probably damaging	Het
Kif13b	T	C	14: 64,987,791 (GRCm39)	C773R	probably damaging	Het
Lipf	T	A	19: 33,942,198 (GRCm39)	Y43N	probably damaging	Het
Mlh1	T	C	9: 111,093,972 (GRCm39)	D90G	probably damaging	Het
Msh5	A	T	17: 35,251,830 (GRCm39)	I410K	probably benign	Het
Mylk3	T	C	8: 86,085,874 (GRCm39)	D220G	probably benign	Het
Ncdn	G	A	4: 126,643,898 (GRCm39)	A308V	probably benign	Het
Nfu1	T	A	6: 86,993,414 (GRCm39)		probably benign	Het
Nup153	A	G	13: 46,840,635 (GRCm39)	V991A	probably benign	Het
Nup188	T	A	2: 30,220,891 (GRCm39)	H960Q	probably benign	Het
Parp4	G	T	14: 56,853,900 (GRCm39)	E839*	probably null	Het
Pfas	T	C	11: 68,881,908 (GRCm39)	N30D		Het
Pitpnc1	T	A	11: 107,103,431 (GRCm39)	N223Y	probably damaging	Het
Plaat1	T	A	16: 29,039,205 (GRCm39)	V95E	probably benign	Het
Plod1	C	T	4: 147,997,778 (GRCm39)	V644I	probably damaging	Het
Pou2f1	T	C	1: 165,708,039 (GRCm39)	T548A	unknown	Het
Psg20	A	T	7: 18,416,584 (GRCm39)	N177K	possibly damaging	Het
Psmb8	T	A	17: 34,419,225 (GRCm39)	I173N	probably damaging	Het
Rimkla	G	A	4: 119,325,273 (GRCm39)	Q379*	probably null	Het
Rnasel	G	T	1: 153,629,661 (GRCm39)	G59V	probably damaging	Het
Rptn	A	T	3: 93,303,150 (GRCm39)	D161V	probably damaging	Het
Scrt1	C	A	15: 76,403,411 (GRCm39)	C193F	unknown	Het
Sdk2	G	T	11: 113,763,978 (GRCm39)	Y269*	probably null	Het
Sfxn2	G	C	19: 46,574,243 (GRCm39)		probably benign	Het
Slc17a4	G	T	13: 24,087,245 (GRCm39)	T264K	probably benign	Het
Slfn8	T	A	11: 82,907,639 (GRCm39)	Q301H	possibly damaging	Het
Sntb1	G	A	15: 55,655,523 (GRCm39)	S231F	probably benign	Het
Spag17	T	A	3: 99,874,506 (GRCm39)	S137T	probably benign	Het
Srd5a2	A	T	17: 74,354,629 (GRCm39)	V65E	possibly damaging	Het
Stk11ip	A	G	1: 75,511,900 (GRCm39)	H967R	probably benign	Het
Sun1	A	G	5: 139,216,920 (GRCm39)	T320A	probably benign	Het
Svep1	A	G	4: 58,206,043 (GRCm39)	S112P	possibly damaging	Het
Tacc2	T	C	7: 130,294,693 (GRCm39)	L15P	probably benign	Het
Tas2r140	T	A	6: 133,032,326 (GRCm39)	N144I	probably damaging	Het
Thpo	T	A	16: 20,544,707 (GRCm39)	R174S	probably damaging	Het
Tnik	A	T	3: 28,648,202 (GRCm39)	Q418L	unknown	Het
Tnr	A	T	1: 159,685,882 (GRCm39)	Q371L	probably benign	Het
Tulp2	G	A	7: 45,170,398 (GRCm39)	R439Q	probably damaging	Het
Uchl4	G	T	9: 64,142,606 (GRCm39)	W29L	probably damaging	Het
Vrk3	T	A	7: 44,407,270 (GRCm39)	C80*	probably null	Het
Washc4	T	C	10: 83,408,015 (GRCm39)	L540P	probably damaging	Het
Wscd1	T	C	11: 71,675,161 (GRCm39)	F356S	probably damaging	Het
Wwc1	A	T	11: 35,774,144 (GRCm39)	M372K	probably benign	Het
Zfhx2	A	G	14: 55,312,191 (GRCm39)	F168L	probably benign	Het
Zfp28	A	G	7: 6,393,399 (GRCm39)	D175G	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
R6764:Fgd5	UTSW	6	91,966,402 (GRCm39)	missense	probably damaging	0.96
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
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'- ATCACGATCCAGAGACGGATG -3'
(R):5'- TCTTGCTCCTGGACATCTGG -3'

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

Posted On

2021-04-30