Mutagenetix > Incidental Mutation

Incidental Mutation 'R7293:Fgd3'

566578

Institutional Source

Beutler Lab

Gene Symbol

Fgd3

Ensembl Gene

ENSMUSG00000037946

Gene Name

FYVE, RhoGEF and PH domain containing 3

Synonyms

ZFYVE5, 5830461L01Rik

MMRRC Submission

045398-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7293 (G1)

Quality Score

191.009

Status

Validated

Chromosome

Chromosomal Location

49415030-49473783 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49418134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 644 (D644G)

Ref Sequence

ENSEMBL: ENSMUSP00000048692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048716] [ENSMUST00000110087]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048716
AA Change: D644G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000048692
Gene: ENSMUSG00000037946
AA Change: D644G

Domain	Start	End	E-Value	Type
low complexity region	87	98	N/A	INTRINSIC
RhoGEF	157	336	1.41e-58	SMART
PH	367	467	3.01e-17	SMART
FYVE	520	585	1.78e-7	SMART
PH	613	713	2.81e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110087
AA Change: D644G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105714
Gene: ENSMUSG00000037946
AA Change: D644G

Domain	Start	End	E-Value	Type
low complexity region	87	98	N/A	INTRINSIC
RhoGEF	157	336	1.41e-58	SMART
PH	367	467	3.01e-17	SMART
FYVE	520	585	1.78e-7	SMART
PH	613	713	2.81e-8	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,795,492 (GRCm39)	G416E	probably damaging	Het
Acsl5	G	T	19: 55,279,642 (GRCm39)	W460L	probably damaging	Het
Adam2	A	G	14: 66,272,634 (GRCm39)	F614S	probably benign	Het
Adamts5	G	A	16: 85,696,833 (GRCm39)	T108I	probably benign	Het
Agmat	C	T	4: 141,483,246 (GRCm39)	Q227*	probably null	Het
Alg11	A	G	8: 22,555,395 (GRCm39)	N219D	probably damaging	Het
Amhr2	A	G	15: 102,355,828 (GRCm39)	T258A	probably benign	Het
Ankrd53	A	G	6: 83,740,178 (GRCm39)	E82G	probably null	Het
Blzf1	T	A	1: 164,123,452 (GRCm39)	T292S	possibly damaging	Het
Capza1	T	C	3: 104,748,151 (GRCm39)	D71G	probably benign	Het
Cc2d1b	T	C	4: 108,488,873 (GRCm39)	F770L	probably benign	Het
Cckbr	A	T	7: 105,083,852 (GRCm39)	Q260L	probably benign	Het
Cep162	T	C	9: 87,085,836 (GRCm39)	T1163A	probably benign	Het
Chd9	T	C	8: 91,760,707 (GRCm39)	S2151P	unknown	Het
Clk1	T	A	1: 58,453,772 (GRCm39)	T301S	probably benign	Het
Cmya5	T	A	13: 93,229,305 (GRCm39)	S1928C	possibly damaging	Het
Col24a1	C	T	3: 145,192,059 (GRCm39)	Q1273*	probably null	Het
Col4a4	T	C	1: 82,501,664 (GRCm39)	D363G	unknown	Het
Copb1	A	T	7: 113,818,837 (GRCm39)	M827K	probably damaging	Het
Crocc	C	T	4: 140,770,867 (GRCm39)	A351T	probably benign	Het
Crybg1	T	C	10: 43,879,428 (GRCm39)	T587A	probably damaging	Het
Csrnp3	A	G	2: 65,779,344 (GRCm39)	R19G	probably damaging	Het
Cyb5rl	T	C	4: 106,938,143 (GRCm39)	I165T	probably damaging	Het
Dnah1	A	T	14: 31,009,820 (GRCm39)	I1916N	probably damaging	Het
Dvl1	T	C	4: 155,940,625 (GRCm39)	M415T	possibly damaging	Het
Dync2h1	A	G	9: 7,001,454 (GRCm39)	S3845P	possibly damaging	Het
Eif3b	A	G	5: 140,405,183 (GRCm39)	Q23R	probably benign	Het
Esam	G	T	9: 37,449,020 (GRCm39)	R376L	probably damaging	Het
Fat3	G	C	9: 15,826,336 (GRCm39)	H391D		Het
Fat3	A	C	9: 15,826,592 (GRCm39)	S305R		Het
Fgf7	T	C	2: 125,877,672 (GRCm39)	L13P	probably damaging	Het
Gas2l1	A	G	11: 5,014,338 (GRCm39)	Y41H	probably damaging	Het
Glg1	A	T	8: 111,895,375 (GRCm39)	I812N	probably damaging	Het
Glp1r	C	T	17: 31,143,599 (GRCm39)	H212Y	probably benign	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
Gpr158	G	A	2: 21,581,750 (GRCm39)	V410I	possibly damaging	Het
Ighv1-53	A	T	12: 115,122,441 (GRCm39)	C5*	probably null	Het
Itgb2l	A	C	16: 96,227,996 (GRCm39)	Y502*	probably null	Het
Jakmip1	G	A	5: 37,284,817 (GRCm39)	V635I	probably benign	Het
Kplce	A	T	3: 92,776,126 (GRCm39)	C186S	probably benign	Het
Krt23	C	T	11: 99,374,682 (GRCm39)	M270I	probably benign	Het
Larp1b	C	T	3: 40,939,879 (GRCm39)	A344V		Het
Lin28b	T	C	10: 45,295,282 (GRCm39)	M134V	probably benign	Het
Lrrc19	T	A	4: 94,526,627 (GRCm39)	Y310F	probably benign	Het
Lyst	T	A	13: 13,854,822 (GRCm39)	D2397E	probably benign	Het
Map6	A	G	7: 98,985,740 (GRCm39)	N751S	possibly damaging	Het
Mgrn1	G	A	16: 4,750,084 (GRCm39)	D494N	probably benign	Het
Myh6	A	G	14: 55,184,631 (GRCm39)	F1567L	probably benign	Het
Myo9b	T	C	8: 71,778,549 (GRCm39)	V461A	probably benign	Het
Ncan	A	T	8: 70,567,861 (GRCm39)	S84T	probably damaging	Het
Nlrp9a	G	A	7: 26,270,694 (GRCm39)	C908Y	probably damaging	Het
Or4c3	A	T	2: 89,851,871 (GRCm39)	Y180N	probably damaging	Het
Or4f4b	A	G	2: 111,313,699 (GRCm39)		probably null	Het
Or52n20	T	A	7: 104,319,925 (GRCm39)	N5K	probably damaging	Het
Or8g31-ps1	A	T	9: 39,276,130 (GRCm39)	M92L	probably benign	Het
Parp4	CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATATTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC	CTTCCTCCCCCTCCCCTTCTCTCTGCTGGCACCCATCTTCCTCCCCCTCCCCTTCTCCCTGCTGGCACCCATATTCCTCCCCCTCCCC	14: 56,885,303 (GRCm39)		probably benign	Het
Pld1	C	A	3: 28,141,435 (GRCm39)	T666K	probably damaging	Het
Pnpla6	A	G	8: 3,588,068 (GRCm39)	Y1107C	probably damaging	Het
Pramel7	A	C	2: 87,322,706 (GRCm39)	N19K	probably benign	Het
Prh1	C	G	6: 132,548,721 (GRCm39)	P76R	unknown	Het
Prkd2	T	C	7: 16,579,865 (GRCm39)	V121A	possibly damaging	Het
Ptprq	G	A	10: 107,471,367 (GRCm39)	Q1345*	probably null	Het
Ryr3	T	A	2: 112,732,948 (GRCm39)	T653S	probably benign	Het
Sall2	G	T	14: 52,551,868 (GRCm39)	Y442*	probably null	Het
Slc23a2	A	C	2: 131,931,026 (GRCm39)	F158V	probably benign	Het
Smg1	C	A	7: 117,765,322 (GRCm39)	R1954L	unknown	Het
Snx31	G	A	15: 36,523,596 (GRCm39)	T362I	probably damaging	Het
Taf3	G	T	2: 9,956,901 (GRCm39)	T422K	probably damaging	Het
Tcfl5	T	C	2: 180,283,958 (GRCm39)	D142G	probably benign	Het
Tmx1	A	G	12: 70,507,325 (GRCm39)	T188A	probably damaging	Het
Tnfrsf11a	A	G	1: 105,735,866 (GRCm39)		probably null	Het
Trio	A	T	15: 27,871,375 (GRCm39)	C640S	possibly damaging	Het
Ulk4	T	G	9: 121,084,190 (GRCm39)	N427T	probably damaging	Het
Vmn1r202	T	C	13: 22,685,872 (GRCm39)	M182V	probably benign	Het
Vmn1r214	C	T	13: 23,218,839 (GRCm39)	A111V	probably benign	Het

Other mutations in Fgd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Fgd3	APN	13	49,429,119 (GRCm39)	splice site	probably benign
IGL00816:Fgd3	APN	13	49,418,262 (GRCm39)	splice site	probably benign
IGL01797:Fgd3	APN	13	49,443,065 (GRCm39)	missense	probably damaging	1.00
IGL01993:Fgd3	APN	13	49,433,664 (GRCm39)	missense	possibly damaging	0.62
IGL02134:Fgd3	APN	13	49,450,225 (GRCm39)	missense	possibly damaging	0.84
IGL02327:Fgd3	APN	13	49,439,274 (GRCm39)	missense	probably damaging	1.00
IGL02367:Fgd3	APN	13	49,440,802 (GRCm39)	missense	probably damaging	1.00
IGL02532:Fgd3	APN	13	49,439,237 (GRCm39)	missense	probably damaging	1.00
IGL02830:Fgd3	APN	13	49,418,107 (GRCm39)	splice site	probably benign
IGL02888:Fgd3	APN	13	49,435,292 (GRCm39)	critical splice donor site	probably null
IGL03209:Fgd3	APN	13	49,439,294 (GRCm39)	missense	probably damaging	1.00
R0016:Fgd3	UTSW	13	49,450,085 (GRCm39)	missense	probably benign	0.10
R0016:Fgd3	UTSW	13	49,450,085 (GRCm39)	missense	probably benign	0.10
R0064:Fgd3	UTSW	13	49,449,901 (GRCm39)	missense	possibly damaging	0.73
R0064:Fgd3	UTSW	13	49,449,901 (GRCm39)	missense	possibly damaging	0.73
R0285:Fgd3	UTSW	13	49,417,424 (GRCm39)	missense	possibly damaging	0.89
R0526:Fgd3	UTSW	13	49,450,000 (GRCm39)	missense	probably benign	0.00
R0617:Fgd3	UTSW	13	49,418,173 (GRCm39)	missense	possibly damaging	0.80
R0648:Fgd3	UTSW	13	49,450,049 (GRCm39)	missense	probably benign	0.23
R1529:Fgd3	UTSW	13	49,420,170 (GRCm39)	missense	probably benign	0.19
R1577:Fgd3	UTSW	13	49,435,413 (GRCm39)	missense	probably damaging	0.99
R1913:Fgd3	UTSW	13	49,417,324 (GRCm39)	missense	possibly damaging	0.89
R2002:Fgd3	UTSW	13	49,449,931 (GRCm39)	missense	probably benign	0.05
R4342:Fgd3	UTSW	13	49,427,185 (GRCm39)	critical splice donor site	probably null
R4606:Fgd3	UTSW	13	49,450,036 (GRCm39)	missense	probably damaging	1.00
R4810:Fgd3	UTSW	13	49,443,126 (GRCm39)	missense	probably benign	0.01
R4885:Fgd3	UTSW	13	49,417,465 (GRCm39)	missense	possibly damaging	0.66
R4962:Fgd3	UTSW	13	49,420,105 (GRCm39)	missense	probably benign	0.03
R4974:Fgd3	UTSW	13	49,432,078 (GRCm39)	missense	probably damaging	1.00
R5201:Fgd3	UTSW	13	49,449,854 (GRCm39)	missense	probably benign	0.00
R5524:Fgd3	UTSW	13	49,431,053 (GRCm39)	missense	probably damaging	0.97
R5588:Fgd3	UTSW	13	49,440,786 (GRCm39)	missense	probably damaging	1.00
R5710:Fgd3	UTSW	13	49,450,205 (GRCm39)	missense	probably benign	0.00
R5753:Fgd3	UTSW	13	49,428,416 (GRCm39)	missense	possibly damaging	0.94
R6048:Fgd3	UTSW	13	49,427,224 (GRCm39)	missense	probably benign	0.01
R6086:Fgd3	UTSW	13	49,440,772 (GRCm39)	missense	probably benign	0.12
R7311:Fgd3	UTSW	13	49,450,166 (GRCm39)	missense	possibly damaging	0.94
R7383:Fgd3	UTSW	13	49,421,785 (GRCm39)	missense	possibly damaging	0.50
R8205:Fgd3	UTSW	13	49,449,823 (GRCm39)	missense	probably benign	0.11
R8463:Fgd3	UTSW	13	49,420,081 (GRCm39)	missense	possibly damaging	0.89
R8513:Fgd3	UTSW	13	49,417,400 (GRCm39)	missense	probably benign	0.00
Z1176:Fgd3	UTSW	13	49,435,302 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGGTTGCTCTGGACATTG -3'
(R):5'- CCAAGCATGGTCCATGATCC -3'

Sequencing Primer
(F):5'- TTGCTCTGGACATTGGAAGAAG -3'
(R):5'- ATGGTCCATGATCCAGCCC -3'

Posted On

2019-06-26