Mutagenetix > Incidental Mutation

Incidental Mutation 'R5525:Fgd5'

431810

Institutional Source

Beutler Lab

Gene Symbol

Fgd5

Ensembl Gene

ENSMUSG00000034037

Gene Name

FYVE, RhoGEF and PH domain containing 5

Synonyms

C330025N11Rik, ZFYVE23

MMRRC Submission

043083-MU

Accession Numbers

Essential gene?

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

Stock #

R5525 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91955859-92052985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92043228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1236 (L1236Q)

Ref Sequence

ENSEMBL: ENSMUSP00000086748 (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: L1236Q

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

SMART Domains

Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: L1236Q

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: L1078Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: L1078Q

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: ENSMUST00000130369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146743

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.9%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,749,731 (GRCm39)	T1501A	probably benign	Het
Acin1	G	A	14: 54,901,848 (GRCm39)	A648V	possibly damaging	Het
Agap1	A	G	1: 89,671,495 (GRCm39)	T401A	possibly damaging	Het
Anapc4	T	G	5: 53,014,151 (GRCm39)	M440R	probably damaging	Het
Ankrd26	A	G	6: 118,504,692 (GRCm39)	M739T	probably benign	Het
Brip1	T	C	11: 86,001,273 (GRCm39)	E721G	possibly damaging	Het
Bzw1	A	G	1: 58,442,065 (GRCm39)	E221G	possibly damaging	Het
Cenpm	A	C	15: 82,123,492 (GRCm39)		probably null	Het
Exosc1	T	A	19: 41,912,457 (GRCm39)	K143N	probably damaging	Het
Gemin6	T	G	17: 80,535,178 (GRCm39)	V46G	probably damaging	Het
Grm3	C	T	5: 9,554,872 (GRCm39)	V807I	probably damaging	Het
Kndc1	A	G	7: 139,504,026 (GRCm39)	N1110S	probably benign	Het
Magi1	A	T	6: 93,769,354 (GRCm39)	V17D	possibly damaging	Het
Mdn1	T	G	4: 32,767,961 (GRCm39)	M5298R	possibly damaging	Het
Nlrp9c	T	A	7: 26,083,926 (GRCm39)	E551V	probably damaging	Het
Oacyl	A	C	18: 65,878,427 (GRCm39)	I457L	probably benign	Het
Or12d13	C	T	17: 37,647,517 (GRCm39)	G202D	probably damaging	Het
Or5p69	A	G	7: 107,967,206 (GRCm39)	I170V	probably benign	Het
Or5t17	A	T	2: 86,832,683 (GRCm39)	E123D	possibly damaging	Het
Rab11fip3	T	C	17: 26,210,269 (GRCm39)	E996G	probably damaging	Het
Rabep1	T	A	11: 70,813,972 (GRCm39)	S554T	probably damaging	Het
Rln1	T	C	19: 29,311,920 (GRCm39)	E26G	probably benign	Het
Rpf1	A	G	3: 146,223,559 (GRCm39)		silent	Het
Sdk1	T	C	5: 142,171,020 (GRCm39)	V1961A	possibly damaging	Het
Serpinb8	A	T	1: 107,535,023 (GRCm39)	I365F	probably damaging	Het
Shank2	A	G	7: 143,623,846 (GRCm39)	D277G	probably damaging	Het
Snapc4	ACTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGC	2: 26,259,538 (GRCm39)		probably benign	Het
Thsd7a	T	C	6: 12,332,006 (GRCm39)	T1269A	possibly damaging	Het
Ttll3	A	G	6: 113,389,939 (GRCm39)	N776D	probably benign	Het
Unc80	A	G	1: 66,645,773 (GRCm39)	E1483G	possibly damaging	Het
Ush2a	A	G	1: 188,485,803 (GRCm39)	D2971G	probably benign	Het
Zfp322a	A	G	13: 23,541,685 (GRCm39)	V19A	probably benign	Het
Zfp462	C	A	4: 55,050,281 (GRCm39)	P2164T	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ATGCTGGTCAGAACCCTGTC -3'
(R):5'- TTTCATGGGGCCTACAGACCTC -3'

Sequencing Primer
(F):5'- GTCAGAACCCTGTCCAGCC -3'
(R):5'- CTGAACCAGGGCCTTAGTATGTCAG -3'

Posted On

2016-10-05