Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00943:Gm4847'

26673

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 #

IGL00943

Quality Score

Status

Chromosome

Chromosomal Location

166456540-166475262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 166469922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 50 (S50R)

Ref Sequence

ENSEMBL: ENSMUSP00000039839 (fasta)

Gene Model

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

AlphaFold

G3X946

Predicted Effect

probably benign
Transcript: ENSMUST00000046662
AA Change: S50R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000039839
Gene: ENSMUSG00000051081
AA Change: S50R

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
Abl1	A	G	2: 31,680,824 (GRCm39)	Y372C	probably damaging	Het
Carmil1	C	T	13: 24,295,869 (GRCm39)	V382M	possibly damaging	Het
Chkb	A	T	15: 89,312,951 (GRCm39)	V138E	probably damaging	Het
Col7a1	G	T	9: 108,806,765 (GRCm39)	G2434*	probably null	Het
Cpa3	A	G	3: 20,282,979 (GRCm39)	V156A	possibly damaging	Het
Dicer1	A	C	12: 104,663,031 (GRCm39)	S1517A	possibly damaging	Het
Dnajc14	T	G	10: 128,652,675 (GRCm39)	S578A	possibly damaging	Het
Dse	A	G	10: 34,038,801 (GRCm39)	Y201H	probably damaging	Het
Fam114a2	A	T	11: 57,405,099 (GRCm39)	M1K	probably null	Het
Gpr156	A	G	16: 37,808,938 (GRCm39)	Y220C	probably damaging	Het
Grxcr1	T	C	5: 68,189,638 (GRCm39)		probably benign	Het
Hspg2	T	C	4: 137,289,512 (GRCm39)	V3824A	probably benign	Het
Ino80b	A	T	6: 83,101,129 (GRCm39)	L116Q	probably damaging	Het
Inpp5e	A	G	2: 26,290,163 (GRCm39)		probably benign	Het
Lrrc8e	T	C	8: 4,285,658 (GRCm39)	C628R	probably damaging	Het
Maml1	A	G	11: 50,149,541 (GRCm39)	V733A	probably damaging	Het
Mcm9	A	G	10: 53,424,685 (GRCm39)	L635P	probably damaging	Het
Myh15	A	T	16: 48,986,176 (GRCm39)	I1549F	probably damaging	Het
Myo1b	T	A	1: 51,823,646 (GRCm39)	I414F	probably damaging	Het
Nlrc3	T	A	16: 3,782,981 (GRCm39)	I159F	possibly damaging	Het
Nvl	A	T	1: 180,929,199 (GRCm39)	D727E	possibly damaging	Het
Or1l4	T	C	2: 37,092,183 (GRCm39)	V310A	probably benign	Het
Pgs1	A	G	11: 117,896,366 (GRCm39)	I348V	probably benign	Het
Pkp1	A	T	1: 135,805,922 (GRCm39)	V592E	probably damaging	Het
Setd7	T	A	3: 51,440,459 (GRCm39)	D194V	probably damaging	Het
Slc26a7	T	C	4: 14,506,477 (GRCm39)	D624G	probably benign	Het
Slc39a6	A	G	18: 24,722,802 (GRCm39)		probably null	Het
Sorbs1	T	C	19: 40,283,484 (GRCm39)		probably benign	Het
Tnfrsf19	A	T	14: 61,261,631 (GRCm39)	M56K	possibly damaging	Het
Togaram2	C	T	17: 72,031,999 (GRCm39)	R873C	probably damaging	Het
Tubgcp6	G	A	15: 89,006,600 (GRCm39)	R141*	probably null	Het
Vill	A	G	9: 118,892,380 (GRCm39)	E337G	probably damaging	Het
Vmn1r17	A	G	6: 57,338,185 (GRCm39)	L11S	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
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
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