Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00948:Gm4847'

26683

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: 0.091) question?

Stock #

IGL00948

Quality Score

Status

Chromosome

Chromosomal Location

166456540-166475262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 166457907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 482 (D482G)

Ref Sequence

ENSEMBL: ENSMUSP00000039839 (fasta)

Gene Model

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

AlphaFold

G3X946

Predicted Effect

probably benign
Transcript: ENSMUST00000046662
AA Change: D482G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000039839
Gene: ENSMUSG00000051081
AA Change: D482G

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccl2	A	T	11: 81,926,558 (GRCm39)	Q24L	possibly damaging	Het
Cd33	G	A	7: 43,178,982 (GRCm39)		probably benign	Het
Cmya5	T	C	13: 93,227,544 (GRCm39)	I2515V	probably benign	Het
Cntnap5b	A	G	1: 100,069,082 (GRCm39)	T101A	probably benign	Het
Cyp4a12a	T	A	4: 115,159,159 (GRCm39)	M143K	probably damaging	Het
Ephb4	C	A	5: 137,364,921 (GRCm39)	S663R	probably damaging	Het
Gskip	C	A	12: 105,665,103 (GRCm39)	N47K	probably damaging	Het
Kmt2c	T	C	5: 25,582,159 (GRCm39)	Y473C	probably benign	Het
Lrrc7	T	A	3: 157,867,194 (GRCm39)	N849I	probably damaging	Het
Magel2	T	A	7: 62,029,070 (GRCm39)	V658E	unknown	Het
Nmral1	C	T	16: 4,534,270 (GRCm39)	G57E	probably damaging	Het
Or6c211	A	T	10: 129,505,756 (GRCm39)	L211I	probably damaging	Het
Or8b54	C	T	9: 38,687,108 (GRCm39)	Q186*	probably null	Het
Padi3	C	A	4: 140,516,254 (GRCm39)	R542L	possibly damaging	Het
Plrg1	T	C	3: 82,975,426 (GRCm39)	V260A	probably damaging	Het
Prex2	A	G	1: 11,240,838 (GRCm39)	H982R	probably damaging	Het
Rbm26	T	A	14: 105,387,779 (GRCm39)	T448S	probably damaging	Het
Ryr1	C	T	7: 28,719,620 (GRCm39)	M4262I	possibly damaging	Het
Slc41a3	A	T	6: 90,622,696 (GRCm39)	D441V	probably damaging	Het
Slc7a2	A	G	8: 41,365,561 (GRCm39)	E448G	probably benign	Het
Smtnl2	C	A	11: 72,302,067 (GRCm39)		probably null	Het
Tox3	G	A	8: 90,997,062 (GRCm39)	P66L	probably damaging	Het
Vmn1r19	T	C	6: 57,382,247 (GRCm39)	F267L	probably benign	Het
Vmn2r12	A	G	5: 109,245,541 (GRCm39)	S64P	possibly damaging	Het
Zfp764	T	C	7: 127,004,376 (GRCm39)	S252G	possibly 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
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
IGL02031:Gm4847	APN	1	166,462,578 (GRCm39)	missense	probably damaging	1.00
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

2013-04-17