Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01146:Gm4847'

50350

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 #

IGL01146

Quality Score

Status

Chromosome

Chromosomal Location

166456540-166475262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 166462521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 323 (D323V)

Ref Sequence

ENSEMBL: ENSMUSP00000039839 (fasta)

Gene Model

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

AlphaFold

G3X946

Predicted Effect

probably damaging
Transcript: ENSMUST00000046662
AA Change: D323V

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

SMART Domains

Protein: ENSMUSP00000039839
Gene: ENSMUSG00000051081
AA Change: D323V

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	C	6: 40,943,217 (GRCm39)	I54T	probably damaging	Het
Acss2	T	C	2: 155,403,957 (GRCm39)	V701A	possibly damaging	Het
Adam6a	A	T	12: 113,507,840 (GRCm39)	Y71F	probably damaging	Het
Arhgef37	A	T	18: 61,651,081 (GRCm39)	I148N	possibly damaging	Het
Bhlhe40	T	C	6: 108,641,901 (GRCm39)	S282P	possibly damaging	Het
Bmp2	A	T	2: 133,403,220 (GRCm39)	Q257L	probably benign	Het
C2cd4d	A	G	3: 94,271,770 (GRCm39)		probably benign	Het
Calcr	T	A	6: 3,700,144 (GRCm39)	Y316F	possibly damaging	Het
Ccdc186	T	C	19: 56,797,749 (GRCm39)	E274G	probably damaging	Het
Cdc34b	G	T	11: 94,633,420 (GRCm39)	D207Y	probably benign	Het
Chst5	C	T	8: 112,617,314 (GRCm39)	C102Y	probably damaging	Het
Cnbd2	T	A	2: 156,154,534 (GRCm39)		probably benign	Het
Dnaaf9	C	T	2: 130,612,591 (GRCm39)		probably null	Het
Dnm1l	T	C	16: 16,132,189 (GRCm39)	D549G	probably benign	Het
Gm9843	G	A	16: 76,200,255 (GRCm39)		noncoding transcript	Het
Gopc	A	G	10: 52,234,963 (GRCm39)	V120A	probably benign	Het
Kmt2c	T	G	5: 25,513,510 (GRCm39)	M3095L	probably damaging	Het
Man1a	T	C	10: 53,783,615 (GRCm39)	E629G	possibly damaging	Het
Pde4b	T	A	4: 102,112,460 (GRCm39)	S12T	possibly damaging	Het
Phf2	A	T	13: 48,973,083 (GRCm39)	L391Q	unknown	Het
Phf8-ps	A	G	17: 33,284,357 (GRCm39)	L815S	possibly damaging	Het
Plekha7	G	A	7: 115,756,708 (GRCm39)		probably benign	Het
Pmpcb	T	A	5: 21,945,476 (GRCm39)		probably benign	Het
Poc1a	T	C	9: 106,182,503 (GRCm39)	Y285H	probably benign	Het
Polr1e	T	C	4: 45,031,369 (GRCm39)	L387S	probably damaging	Het
Prr9	A	T	3: 92,030,504 (GRCm39)	C45*	probably null	Het
Rnf157	T	C	11: 116,240,912 (GRCm39)	H393R	probably benign	Het
Rps6ka4	A	G	19: 6,808,496 (GRCm39)	F554L	probably damaging	Het
Sez6l	A	G	5: 112,576,275 (GRCm39)	S861P	probably damaging	Het
Sh3tc2	G	T	18: 62,122,582 (GRCm39)	D448Y	probably damaging	Het
Smg6	T	G	11: 74,821,254 (GRCm39)	Y508*	probably null	Het
Sult6b2	C	T	6: 142,750,034 (GRCm39)	G28D	probably benign	Het
Traf2	C	A	2: 25,414,931 (GRCm39)	C303F	probably benign	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
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

2013-06-21