Mutagenetix > Incidental Mutation

Incidental Mutation 'R5065:Gm4847'

388281

Institutional Source

Beutler Lab

Gene Symbol

Gm4847

Ensembl Gene

ENSMUSG00000051081

Gene Name

predicted gene 4847

Synonyms

MMRRC Submission

042655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5065 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

166456540-166475262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 166462359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 377 (I377N)

Ref Sequence

ENSEMBL: ENSMUSP00000039839 (fasta)

Gene Model

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

AlphaFold

G3X946

Predicted Effect

probably damaging
Transcript: ENSMUST00000046662
AA Change: I377N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039839
Gene: ENSMUSG00000051081
AA Change: I377N

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,779,893 (GRCm39)	N120Y	probably damaging	Het
A930011G23Rik	G	A	5: 99,382,432 (GRCm39)	T272M	probably benign	Het
Aldh9a1	A	G	1: 167,180,128 (GRCm39)	E74G	probably damaging	Het
Asxl3	C	G	18: 22,658,356 (GRCm39)	A2122G	possibly damaging	Het
Bcl2l10	A	T	9: 75,255,261 (GRCm39)	E26V	possibly damaging	Het
Cspg4b	T	A	13: 113,457,453 (GRCm39)	H1166Q	probably benign	Het
Dennd2a	C	A	6: 39,472,110 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,832,883 (GRCm39)	F129L	probably damaging	Het
Gm8674	T	C	13: 50,056,613 (GRCm39)		noncoding transcript	Het
Hhipl2	A	T	1: 183,207,580 (GRCm39)	H433L	probably benign	Het
Hsfy2	G	A	1: 56,675,626 (GRCm39)	Q304*	probably null	Het
Ighg2c	T	C	12: 113,251,708 (GRCm39)	I140V	unknown	Het
Kmt2a	T	C	9: 44,753,997 (GRCm39)		probably benign	Het
Map3k5	A	G	10: 19,958,213 (GRCm39)	E671G	probably damaging	Het
Map6	A	G	7: 98,985,917 (GRCm39)	D607G	probably benign	Het
Mroh4	C	T	15: 74,500,119 (GRCm39)		probably null	Het
Or10g6	A	G	9: 39,934,546 (GRCm39)	I286V	probably benign	Het
Pcsk6	A	G	7: 65,560,047 (GRCm39)	D124G	possibly damaging	Het
Pkhd1l1	T	A	15: 44,445,689 (GRCm39)	N3790K	possibly damaging	Het
Polr3b	C	A	10: 84,468,402 (GRCm39)	N129K	probably benign	Het
Ptpn23	A	T	9: 110,227,256 (GRCm39)	L31Q	possibly damaging	Het
Sema3c	A	G	5: 17,932,615 (GRCm39)	N706S	possibly damaging	Het
Sipa1l2	T	C	8: 126,218,324 (GRCm39)	I338V	probably benign	Het
Slc39a7	A	G	17: 34,250,033 (GRCm39)		probably benign	Het
Snd1	C	A	6: 28,888,239 (GRCm39)	N891K	probably damaging	Het
Sntg1	A	G	1: 8,433,663 (GRCm39)		probably benign	Het
Stxbp5	A	T	10: 9,646,295 (GRCm39)	L780Q	probably damaging	Het
Tacr1	G	A	6: 82,531,859 (GRCm39)	V252M	possibly damaging	Het
Tdrp	T	C	8: 14,003,791 (GRCm39)	E182G	probably damaging	Het
Vmn1r58	A	G	7: 5,413,834 (GRCm39)	I132T	probably benign	Het
Wap	A	T	11: 6,586,840 (GRCm39)	N86K	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCACTTAGGGAATTGCCACATC -3'
(R):5'- AGAGTTCACCTCAACATCGGC -3'

Sequencing Primer
(F):5'- GGGAATTGCCACATCAATAGTTAGAC -3'
(R):5'- AACATCGGCCATCTTTGAGG -3'

Posted On

2016-06-06