Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02031:Gm4847'

184362

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm4847

Ensembl Gene

ENSMUSG00000051081

Gene Name

predicted gene 4847

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

IGL02031

Quality Score

Status

Chromosome

Chromosomal Location

166456540-166475262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 166462578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 304 (V304A)

Ref Sequence

ENSEMBL: ENSMUSP00000039839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046662]

AlphaFold

G3X946

Predicted Effect

probably damaging
Transcript: ENSMUST00000046662
AA Change: V304A

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

SMART Domains

Protein: ENSMUSP00000039839
Gene: ENSMUSG00000051081
AA Change: V304A

Domain	Start	End	E-Value	Type
Pfam:FMO-like	3	533	1.4e-235	PFAM
Pfam:Pyr_redox_2	4	241	5.2e-11	PFAM
Pfam:Pyr_redox_3	7	221	6.7e-15	PFAM
Pfam:NAD_binding_8	8	92	1.6e-7	PFAM
Pfam:K_oxygenase	77	333	5.2e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 71,921,028 (GRCm39)		probably benign	Het
Akap11	T	C	14: 78,751,253 (GRCm39)	D378G	possibly damaging	Het
Ankrd33b	A	T	15: 31,325,329 (GRCm39)	F129L	probably damaging	Het
Apob	A	G	12: 8,065,222 (GRCm39)	K4064E	probably benign	Het
Arhgef10l	T	C	4: 140,302,656 (GRCm39)	D506G	probably damaging	Het
Arid4b	A	C	13: 14,327,997 (GRCm39)		probably benign	Het
Ccdc88c	A	T	12: 100,899,570 (GRCm39)	Y1263N	probably damaging	Het
Ckap5	T	C	2: 91,443,117 (GRCm39)	L1697P	possibly damaging	Het
Cplane1	T	C	15: 8,209,253 (GRCm39)	F230S	probably damaging	Het
Cpxm1	C	T	2: 130,235,601 (GRCm39)	V464M	probably damaging	Het
Dhrs7c	A	G	11: 67,706,715 (GRCm39)	E291G	probably benign	Het
Dst	C	A	1: 34,228,998 (GRCm39)	P1872H	possibly damaging	Het
G6pc2	G	A	2: 69,053,335 (GRCm39)	A130T	probably benign	Het
Gm8267	T	C	14: 44,955,374 (GRCm39)	D155G	possibly damaging	Het
Kank1	G	A	19: 25,388,066 (GRCm39)	V580I	probably benign	Het
Kcnh4	A	G	11: 100,636,649 (GRCm39)	S757P	probably damaging	Het
Krt34	C	A	11: 99,929,849 (GRCm39)	A216S	possibly damaging	Het
Mfhas1	A	T	8: 36,056,526 (GRCm39)	I334F	probably damaging	Het
Mrgprb8	A	G	7: 48,039,087 (GRCm39)	M253V	probably benign	Het
Or52n4b	A	T	7: 108,144,137 (GRCm39)	H133L	probably benign	Het
Pp2d1	T	A	17: 53,815,468 (GRCm39)	T419S	probably damaging	Het
Pprc1	T	A	19: 46,060,782 (GRCm39)		probably benign	Het
Reln	A	G	5: 22,184,014 (GRCm39)	S1662P	probably damaging	Het
Sema7a	G	A	9: 57,862,423 (GRCm39)	E209K	possibly damaging	Het
Serinc2	C	T	4: 130,158,237 (GRCm39)	W15*	probably null	Het
Serpina3k	A	G	12: 104,311,525 (GRCm39)	T368A	probably benign	Het
Setd3	A	T	12: 108,129,289 (GRCm39)	W54R	probably damaging	Het
Slc9c1	G	A	16: 45,419,833 (GRCm39)	S1001N	probably benign	Het
Snapc3	A	G	4: 83,336,213 (GRCm39)	D75G	probably benign	Het
Spata31e2	A	G	1: 26,724,104 (GRCm39)	Y359H	probably damaging	Het
Stard9	T	C	2: 120,532,820 (GRCm39)	S333P	probably benign	Het
Utrn	T	C	10: 12,610,948 (GRCm39)	D469G	probably damaging	Het

Other mutations in Gm4847

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00726:Gm4847	APN	1	166,457,961 (GRCm39)	missense	possibly damaging	0.55
IGL00943:Gm4847	APN	1	166,469,922 (GRCm39)	missense	probably benign	0.01
IGL00948:Gm4847	APN	1	166,457,907 (GRCm39)	missense	probably benign	0.01
IGL01146:Gm4847	APN	1	166,462,521 (GRCm39)	missense	probably damaging	1.00
IGL01345:Gm4847	APN	1	166,462,541 (GRCm39)	missense	probably damaging	1.00
IGL01654:Gm4847	APN	1	166,465,917 (GRCm39)	missense	probably damaging	1.00
IGL01817:Gm4847	APN	1	166,462,471 (GRCm39)	missense	probably damaging	1.00
IGL02028:Gm4847	APN	1	166,469,765 (GRCm39)	missense	probably benign	0.23
IGL02412:Gm4847	APN	1	166,469,307 (GRCm39)	missense	probably damaging	0.98
IGL03278:Gm4847	APN	1	166,462,605 (GRCm39)	missense	probably benign	0.06
Disturbance	UTSW	1	166,467,677 (GRCm39)	missense	probably damaging	1.00
ruckus	UTSW	1	166,457,824 (GRCm39)	missense	probably benign	0.07
PIT4494001:Gm4847	UTSW	1	166,467,587 (GRCm39)	missense	probably damaging	1.00
R0009:Gm4847	UTSW	1	166,458,055 (GRCm39)	missense	probably benign	0.00
R0009:Gm4847	UTSW	1	166,458,055 (GRCm39)	missense	probably benign	0.00
R0121:Gm4847	UTSW	1	166,469,857 (GRCm39)	missense	probably damaging	1.00
R0492:Gm4847	UTSW	1	166,457,961 (GRCm39)	missense	probably damaging	1.00
R0973:Gm4847	UTSW	1	166,457,824 (GRCm39)	missense	probably benign	0.07
R1136:Gm4847	UTSW	1	166,457,935 (GRCm39)	missense	probably damaging	0.98
R1522:Gm4847	UTSW	1	166,469,219 (GRCm39)	missense	probably damaging	1.00
R1730:Gm4847	UTSW	1	166,465,908 (GRCm39)	missense	possibly damaging	0.80
R1818:Gm4847	UTSW	1	166,465,788 (GRCm39)	missense	probably damaging	1.00
R1819:Gm4847	UTSW	1	166,465,788 (GRCm39)	missense	probably damaging	1.00
R2145:Gm4847	UTSW	1	166,462,472 (GRCm39)	missense	probably benign	0.00
R4628:Gm4847	UTSW	1	166,457,964 (GRCm39)	missense	probably damaging	1.00
R4850:Gm4847	UTSW	1	166,469,908 (GRCm39)	missense	probably damaging	1.00
R5065:Gm4847	UTSW	1	166,462,359 (GRCm39)	missense	probably damaging	0.99
R5068:Gm4847	UTSW	1	166,465,953 (GRCm39)	missense	possibly damaging	0.81
R5493:Gm4847	UTSW	1	166,457,890 (GRCm39)	missense	probably damaging	1.00
R5500:Gm4847	UTSW	1	166,462,611 (GRCm39)	missense	probably damaging	1.00
R5990:Gm4847	UTSW	1	166,470,942 (GRCm39)	missense	probably benign	0.00
R6018:Gm4847	UTSW	1	166,471,017 (GRCm39)	missense	probably damaging	1.00
R6178:Gm4847	UTSW	1	166,469,905 (GRCm39)	missense	probably damaging	1.00
R6190:Gm4847	UTSW	1	166,457,892 (GRCm39)	missense	probably damaging	0.98
R6220:Gm4847	UTSW	1	166,462,541 (GRCm39)	missense	probably damaging	1.00
R6654:Gm4847	UTSW	1	166,457,956 (GRCm39)	missense	probably damaging	1.00
R7634:Gm4847	UTSW	1	166,460,249 (GRCm39)	missense	probably benign
R7796:Gm4847	UTSW	1	166,469,819 (GRCm39)	missense	probably damaging	0.96
R7856:Gm4847	UTSW	1	166,462,395 (GRCm39)	missense	probably damaging	1.00
R7877:Gm4847	UTSW	1	166,467,575 (GRCm39)	missense	possibly damaging	0.48
R8130:Gm4847	UTSW	1	166,465,917 (GRCm39)	missense	probably damaging	1.00
R8361:Gm4847	UTSW	1	166,469,839 (GRCm39)	missense	possibly damaging	0.69
R8496:Gm4847	UTSW	1	166,469,761 (GRCm39)	missense	possibly damaging	0.84
R8935:Gm4847	UTSW	1	166,469,789 (GRCm39)	missense	probably damaging	1.00
R9023:Gm4847	UTSW	1	166,469,332 (GRCm39)	missense	probably damaging	1.00
R9055:Gm4847	UTSW	1	166,467,677 (GRCm39)	missense	probably damaging	1.00
R9310:Gm4847	UTSW	1	166,460,281 (GRCm39)	missense	probably benign
R9513:Gm4847	UTSW	1	166,462,541 (GRCm39)	missense	probably damaging	1.00
R9653:Gm4847	UTSW	1	166,467,582 (GRCm39)	missense	possibly damaging	0.92
X0018:Gm4847	UTSW	1	166,462,519 (GRCm39)	missense	probably benign	0.24
X0024:Gm4847	UTSW	1	166,460,284 (GRCm39)	missense	possibly damaging	0.87
Z1177:Gm4847	UTSW	1	166,462,342 (GRCm39)	missense	probably damaging	0.98

Posted On

2014-05-07