Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02870:Fgd6'

362554

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fgd6

Ensembl Gene

ENSMUSG00000020021

Gene Name

FYVE, RhoGEF and PH domain containing 6

Synonyms

Etohd4, ZFYVE24

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.387) question?

Stock #

IGL02870

Quality Score

Status

Chromosome

Chromosomal Location

93871863-93981201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93881026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 627 (S627P)

Ref Sequence

ENSEMBL: ENSMUSP00000020208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020208]

AlphaFold

Q69ZL1

PDB Structure

Solution Structure of the Pleckstrin Homology Domain of Mouse Ethanol Decreased 4 Protein [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020208
AA Change: S627P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: S627P

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	24	34	N/A	INTRINSIC
low complexity region	45	60	N/A	INTRINSIC
low complexity region	75	88	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	403	418	N/A	INTRINSIC
low complexity region	803	821	N/A	INTRINSIC
RhoGEF	845	1029	3.09e-46	SMART
PH	1060	1155	6.25e-15	SMART
FYVE	1183	1251	6.93e-28	SMART
low complexity region	1268	1282	N/A	INTRINSIC
PH	1303	1398	1.54e-5	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,711,851 (GRCm39)	V1042M	probably benign	Het
Agmat	C	A	4: 141,474,253 (GRCm39)	H45N	probably benign	Het
Akap13	T	A	7: 75,258,936 (GRCm39)	V520D	probably damaging	Het
Ccser1	T	A	6: 61,288,276 (GRCm39)	N146K	probably damaging	Het
Cdhr4	T	A	9: 107,875,263 (GRCm39)		probably null	Het
Col4a1	G	A	8: 11,271,375 (GRCm39)	T753I	probably benign	Het
Cyp3a59	T	C	5: 146,034,994 (GRCm39)	I224T	probably benign	Het
Ddx19a	G	T	8: 111,710,258 (GRCm39)	P114Q	probably damaging	Het
Eftud2	A	G	11: 102,753,452 (GRCm39)	V275A	probably damaging	Het
Flywch1	C	T	17: 23,974,876 (GRCm39)	G541D	probably damaging	Het
Grk2	T	C	19: 4,340,430 (GRCm39)	D317G	probably damaging	Het
H2-M5	T	C	17: 37,299,925 (GRCm39)	E83G	probably benign	Het
Hltf	T	C	3: 20,154,037 (GRCm39)	F658L	probably damaging	Het
Hmmr	G	T	11: 40,604,902 (GRCm39)	Q390K	possibly damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Nsd1	A	T	13: 55,461,416 (GRCm39)	T2548S	probably benign	Het
Or1j13	G	A	2: 36,370,043 (GRCm39)	A33V	probably benign	Het
P3h1	C	T	4: 119,104,768 (GRCm39)	R684W	probably damaging	Het
Peli2	G	A	14: 48,493,722 (GRCm39)	V315M	probably damaging	Het
Pfkl	T	A	10: 77,836,673 (GRCm39)	K115*	probably null	Het
Plcxd1	A	G	5: 110,249,271 (GRCm39)	T33A	probably damaging	Het
Ranbp17	A	G	11: 33,193,262 (GRCm39)	S931P	probably damaging	Het
Retsat	T	C	6: 72,584,007 (GRCm39)	Y500H	probably damaging	Het
Rfx8	C	T	1: 39,722,871 (GRCm39)	V249I	possibly damaging	Het
Runx1t1	A	T	4: 13,889,867 (GRCm39)	I599L	unknown	Het
Sardh	A	T	2: 27,125,503 (GRCm39)	I337N	possibly damaging	Het
Serpinb7	A	T	1: 107,378,017 (GRCm39)	M237L	probably damaging	Het
Slc35f1	A	G	10: 52,809,303 (GRCm39)	S97G	possibly damaging	Het
Stab1	T	C	14: 30,861,354 (GRCm39)	D2520G	probably benign	Het
Tnfrsf11b	C	T	15: 54,119,423 (GRCm39)	V184M	probably benign	Het
Trpv4	A	T	5: 114,763,117 (GRCm39)	V764E	probably damaging	Het
Tsc22d1	C	A	14: 76,655,057 (GRCm39)	A430E	probably benign	Het
Ttn	T	C	2: 76,580,949 (GRCm39)	R23315G	probably damaging	Het
Txnrd1	A	G	10: 82,731,813 (GRCm39)	I478M	probably benign	Het
Ush2a	T	C	1: 188,410,555 (GRCm39)	V2401A	probably benign	Het
Vill	T	C	9: 118,890,967 (GRCm39)	L191P	probably damaging	Het
Vmn1r30	A	G	6: 58,412,355 (GRCm39)	V159A	probably benign	Het
Washc4	T	A	10: 83,421,740 (GRCm39)	N939K	probably benign	Het
Wdfy3	A	G	5: 102,003,337 (GRCm39)	V2926A	probably damaging	Het
Wdr7	T	C	18: 63,924,914 (GRCm39)	S966P	probably benign	Het
Zfp12	C	A	5: 143,231,086 (GRCm39)	T471N	probably damaging	Het

Other mutations in Fgd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Fgd6	APN	10	93,879,496 (GRCm39)	missense	probably benign	0.01
IGL00975:Fgd6	APN	10	93,969,938 (GRCm39)	missense	probably damaging	0.98
IGL01366:Fgd6	APN	10	93,879,338 (GRCm39)	missense	possibly damaging	0.71
IGL01940:Fgd6	APN	10	93,925,512 (GRCm39)	splice site	probably null
IGL01958:Fgd6	APN	10	93,974,170 (GRCm39)	missense	probably benign	0.25
IGL01988:Fgd6	APN	10	93,910,197 (GRCm39)	splice site	probably benign
IGL02019:Fgd6	APN	10	93,969,216 (GRCm39)	missense	probably damaging	1.00
IGL02074:Fgd6	APN	10	93,963,297 (GRCm39)	missense	probably damaging	1.00
IGL02227:Fgd6	APN	10	93,969,946 (GRCm39)	missense	probably damaging	1.00
IGL02262:Fgd6	APN	10	93,961,490 (GRCm39)	missense	probably damaging	0.98
IGL02353:Fgd6	APN	10	93,974,258 (GRCm39)	missense	possibly damaging	0.82
IGL02360:Fgd6	APN	10	93,974,258 (GRCm39)	missense	possibly damaging	0.82
IGL02425:Fgd6	APN	10	93,910,064 (GRCm39)	missense	probably benign	0.00
IGL02526:Fgd6	APN	10	93,936,373 (GRCm39)	missense	probably benign	0.21
IGL02607:Fgd6	APN	10	93,880,310 (GRCm39)	missense	possibly damaging	0.94
IGL02741:Fgd6	APN	10	93,959,152 (GRCm39)	missense	possibly damaging	0.65
IGL02884:Fgd6	APN	10	93,881,501 (GRCm39)	splice site	probably benign
IGL02995:Fgd6	APN	10	93,881,342 (GRCm39)	nonsense	probably null
IGL03189:Fgd6	APN	10	93,880,318 (GRCm39)	missense	probably benign	0.26
IGL03258:Fgd6	APN	10	93,969,215 (GRCm39)	missense	probably benign	0.44
IGL03396:Fgd6	APN	10	93,880,318 (GRCm39)	missense	probably benign	0.26
FR4449:Fgd6	UTSW	10	93,880,182 (GRCm39)	small deletion	probably benign
R0257:Fgd6	UTSW	10	93,879,777 (GRCm39)	missense	probably benign	0.11
R0926:Fgd6	UTSW	10	93,970,909 (GRCm39)	missense	probably benign	0.40
R1325:Fgd6	UTSW	10	93,963,289 (GRCm39)	missense	probably damaging	1.00
R1422:Fgd6	UTSW	10	93,881,234 (GRCm39)	missense	probably damaging	1.00
R1491:Fgd6	UTSW	10	93,880,694 (GRCm39)	missense	probably benign	0.06
R1593:Fgd6	UTSW	10	93,880,894 (GRCm39)	missense	probably damaging	1.00
R1624:Fgd6	UTSW	10	93,973,298 (GRCm39)	missense	probably benign	0.19
R1929:Fgd6	UTSW	10	93,880,868 (GRCm39)	missense	probably benign	0.01
R2064:Fgd6	UTSW	10	93,880,903 (GRCm39)	missense	probably damaging	0.98
R2965:Fgd6	UTSW	10	93,880,056 (GRCm39)	missense	probably benign	0.03
R2966:Fgd6	UTSW	10	93,880,056 (GRCm39)	missense	probably benign	0.03
R3889:Fgd6	UTSW	10	93,925,499 (GRCm39)	missense	probably damaging	1.00
R4094:Fgd6	UTSW	10	93,879,296 (GRCm39)	missense	probably damaging	1.00
R4605:Fgd6	UTSW	10	93,880,217 (GRCm39)	missense	probably benign	0.12
R4883:Fgd6	UTSW	10	93,975,715 (GRCm39)	missense	probably benign	0.00
R5217:Fgd6	UTSW	10	93,969,939 (GRCm39)	missense	possibly damaging	0.90
R5473:Fgd6	UTSW	10	93,880,538 (GRCm39)	missense	probably benign	0.00
R5606:Fgd6	UTSW	10	93,974,190 (GRCm39)	nonsense	probably null
R5644:Fgd6	UTSW	10	93,969,912 (GRCm39)	missense	possibly damaging	0.80
R6051:Fgd6	UTSW	10	93,973,427 (GRCm39)	critical splice donor site	probably null
R6258:Fgd6	UTSW	10	93,880,161 (GRCm39)	missense	probably benign	0.00
R6735:Fgd6	UTSW	10	93,910,182 (GRCm39)	missense	possibly damaging	0.94
R7181:Fgd6	UTSW	10	93,879,373 (GRCm39)	missense	probably benign	0.02
R7210:Fgd6	UTSW	10	93,969,954 (GRCm39)	missense	probably damaging	0.98
R7296:Fgd6	UTSW	10	93,975,743 (GRCm39)	missense	probably benign	0.02
R7296:Fgd6	UTSW	10	93,879,909 (GRCm39)	nonsense	probably null
R7697:Fgd6	UTSW	10	93,881,306 (GRCm39)	missense	probably damaging	0.99
R7747:Fgd6	UTSW	10	93,880,778 (GRCm39)	missense	probably damaging	1.00
R7861:Fgd6	UTSW	10	93,939,193 (GRCm39)	missense	probably benign	0.15
R7940:Fgd6	UTSW	10	93,956,344 (GRCm39)	missense	probably benign	0.02
R8022:Fgd6	UTSW	10	93,880,206 (GRCm39)	missense	possibly damaging	0.54
R8138:Fgd6	UTSW	10	93,970,005 (GRCm39)	missense	probably null	0.45
R8171:Fgd6	UTSW	10	93,910,194 (GRCm39)	critical splice donor site	probably null
R8189:Fgd6	UTSW	10	93,910,077 (GRCm39)	missense	probably benign	0.00
R8213:Fgd6	UTSW	10	93,879,914 (GRCm39)	missense	probably benign	0.37
R8960:Fgd6	UTSW	10	93,880,868 (GRCm39)	missense	probably benign	0.06
R8981:Fgd6	UTSW	10	93,880,916 (GRCm39)	missense	possibly damaging	0.80
R8989:Fgd6	UTSW	10	93,959,425 (GRCm39)	missense	probably damaging	0.97
R9609:Fgd6	UTSW	10	93,879,674 (GRCm39)	missense	probably damaging	0.99
RF031:Fgd6	UTSW	10	93,880,187 (GRCm39)	frame shift	probably null
RF040:Fgd6	UTSW	10	93,880,187 (GRCm39)	frame shift	probably null

Posted On

2015-12-18