Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03126:Fgd5'

410154

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fgd5

Ensembl Gene

ENSMUSG00000034037

Gene Name

FYVE, RhoGEF and PH domain containing 5

Synonyms

C330025N11Rik, ZFYVE23

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

IGL03126

Quality Score

Status

Chromosome

Chromosomal Location

91955859-92052985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 92042145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 1034 (L1034R)

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: L1192R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: L1192R

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: L1034R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: L1034R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146743

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,617,563 (GRCm39)	N562S	probably benign	Het
Abi1	A	G	2: 22,843,479 (GRCm39)	V316A	probably benign	Het
Acsm1	A	T	7: 119,232,403 (GRCm39)	Q100L	possibly damaging	Het
Akr1c21	T	C	13: 4,627,457 (GRCm39)	Y184H	possibly damaging	Het
Anks3	T	C	16: 4,775,891 (GRCm39)	T104A	probably damaging	Het
Bcl2l2	A	G	14: 55,122,224 (GRCm39)	Y129C	probably damaging	Het
Cenpf	T	A	1: 189,391,207 (GRCm39)	K875I	probably damaging	Het
Cntnap1	T	C	11: 101,067,127 (GRCm39)	V15A	probably benign	Het
Dnaaf9	A	T	2: 130,633,915 (GRCm39)		probably null	Het
Elmo3	C	A	8: 106,033,013 (GRCm39)	R66S	probably damaging	Het
Elp1	A	G	4: 56,779,717 (GRCm39)	S565P	probably benign	Het
Epn1	C	A	7: 5,098,684 (GRCm39)	A370E	probably benign	Het
Esrrg	T	C	1: 187,730,184 (GRCm39)		probably benign	Het
Fpgs	A	G	2: 32,573,135 (GRCm39)	V567A	possibly damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
H3c3	T	C	13: 23,929,425 (GRCm39)	K19R	possibly damaging	Het
Hsd17b14	T	C	7: 45,205,503 (GRCm39)	F38S	possibly damaging	Het
Larp1	T	C	11: 57,941,703 (GRCm39)	V712A	possibly damaging	Het
Mep1b	T	C	18: 21,221,617 (GRCm39)	F189S	probably damaging	Het
Mill1	T	C	7: 17,989,832 (GRCm39)	V38A	probably benign	Het
Niban2	C	T	2: 32,766,398 (GRCm39)	R13W	possibly damaging	Het
Npy4r	T	C	14: 33,868,290 (GRCm39)	I333V	probably benign	Het
Numa1	G	T	7: 101,649,874 (GRCm39)	E1202*	probably null	Het
Or3a1b	C	T	11: 74,012,610 (GRCm39)	A165V	probably benign	Het
Or6k6	A	G	1: 173,945,276 (GRCm39)	I102T	probably benign	Het
Oxr1	A	T	15: 41,683,645 (GRCm39)	Q356L	possibly damaging	Het
Prdx2	T	C	8: 85,698,198 (GRCm39)	F130L	probably damaging	Het
Rasa1	A	T	13: 85,404,515 (GRCm39)	S248R	possibly damaging	Het
Rgs19	A	G	2: 181,333,114 (GRCm39)	S49P	probably benign	Het
Rinl	A	G	7: 28,495,075 (GRCm39)		probably benign	Het
Serpinb11	T	C	1: 107,307,654 (GRCm39)	F362L	probably damaging	Het
Slamf8	T	C	1: 172,411,736 (GRCm39)	H253R	possibly damaging	Het
Tet3	C	A	6: 83,353,769 (GRCm39)	R829L	probably damaging	Het
Trappc8	A	G	18: 20,996,652 (GRCm39)	L420P	probably damaging	Het
Ube2u	A	T	4: 100,407,199 (GRCm39)	*353Y	probably null	Het
Wbp1l	A	C	19: 46,632,838 (GRCm39)	D46A	probably damaging	Het
Zbtb21	A	G	16: 97,752,945 (GRCm39)	V474A	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
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
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

Posted On

2016-08-02