Mutagenetix > Incidental Mutation

Incidental Mutation 'R3954:Qng1'

308119

Institutional Source

Beutler Lab

Gene Symbol

Qng1

Ensembl Gene

ENSMUSG00000021550

Gene Name

Q-nucleotide N-glycosylase 1

Synonyms

2210016F16Rik

MMRRC Submission

040831-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R3954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58527860-58533039 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58532203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 118 (S118P)

Ref Sequence

ENSEMBL: ENSMUSP00000022032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022032]

AlphaFold

G3X8U3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022032
AA Change: S118P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022032
Gene: ENSMUSG00000021550
AA Change: S118P

Domain	Start	End	E-Value	Type
low complexity region	31	41	N/A	INTRINSIC
Pfam:Q_salvage	53	338	9.7e-122	PFAM

Meta Mutation Damage Score

0.1977

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,100,805 (GRCm39)	K393E	possibly damaging	Het
Aagab	A	G	9: 63,526,442 (GRCm39)	E155G	probably damaging	Het
Acad11	A	G	9: 103,963,351 (GRCm39)		probably benign	Het
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Ankle2	A	G	5: 110,399,541 (GRCm39)	T633A	probably benign	Het
Arhgef19	A	G	4: 140,983,645 (GRCm39)	Y726C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
B3galnt2	A	G	13: 14,141,039 (GRCm39)	Q87R	probably benign	Het
Carmil1	A	G	13: 24,197,390 (GRCm39)	S1349P	probably benign	Het
Cfap52	C	A	11: 67,821,691 (GRCm39)	V446L	probably benign	Het
Cgnl1	T	C	9: 71,631,945 (GRCm39)	N469D	probably benign	Het
Clspn	ACGGCGGCGGC	A	4: 126,460,230 (GRCm39)		probably null	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Cyp3a57	A	T	5: 145,286,135 (GRCm39)		probably null	Het
Dennd5a	A	G	7: 109,504,906 (GRCm39)	M868T	probably benign	Het
Dlg1	T	C	16: 31,676,826 (GRCm39)	Y792H	probably damaging	Het
Dusp13b	T	A	14: 21,790,175 (GRCm39)	D57V	probably damaging	Het
Galnt6	A	G	15: 100,595,049 (GRCm39)	V484A	possibly damaging	Het
Hbq1a	T	C	11: 32,250,214 (GRCm39)		probably null	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igkv4-79	A	G	6: 69,020,229 (GRCm39)	S29P	possibly damaging	Het
Lamp5	G	A	2: 135,902,928 (GRCm39)	D216N	probably damaging	Het
Me2	A	G	18: 73,914,203 (GRCm39)	F443L	probably damaging	Het
Ncam2	G	A	16: 81,386,612 (GRCm39)	V664M	probably damaging	Het
Ndst4	T	C	3: 125,231,554 (GRCm39)	M41T	probably benign	Het
Nkx6-3	G	T	8: 23,643,742 (GRCm39)	A48S	possibly damaging	Het
Ntng2	A	G	2: 29,097,547 (GRCm39)	C305R	probably damaging	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Odad1	A	G	7: 45,591,100 (GRCm39)	K192E	probably damaging	Het
Omd	A	T	13: 49,743,213 (GRCm39)	I88F	probably benign	Het
Or51f1	A	G	7: 102,505,824 (GRCm39)	C222R	probably damaging	Het
Pi4k2a	G	A	19: 42,104,338 (GRCm39)	A367T	probably damaging	Het
Pramel30	A	C	4: 144,058,238 (GRCm39)	M282L	probably benign	Het
Prph2	T	C	17: 47,221,644 (GRCm39)	F8L	probably benign	Het
Rasgrf2	A	G	13: 92,130,974 (GRCm39)	S696P	probably damaging	Het
Slc26a1	T	C	5: 108,821,448 (GRCm39)	D147G	possibly damaging	Het
Tec	T	C	5: 72,939,520 (GRCm39)		probably null	Het
Tmem131l	C	A	3: 83,817,726 (GRCm39)	C1257F	probably damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Vmn1r124	A	G	7: 20,994,448 (GRCm39)	V32A	possibly damaging	Het
Zc3h13	T	A	14: 75,567,178 (GRCm39)	S921T	possibly damaging	Het

Other mutations in Qng1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Qng1	APN	13	58,529,790 (GRCm39)	missense	probably damaging	1.00
IGL02302:Qng1	APN	13	58,529,749 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Qng1	UTSW	13	58,532,827 (GRCm39)	nonsense	probably null
R0055:Qng1	UTSW	13	58,531,980 (GRCm39)	missense	probably damaging	1.00
R0055:Qng1	UTSW	13	58,531,980 (GRCm39)	missense	probably damaging	1.00
R2874:Qng1	UTSW	13	58,530,384 (GRCm39)	missense	probably damaging	1.00
R3956:Qng1	UTSW	13	58,532,203 (GRCm39)	missense	probably damaging	0.97
R4012:Qng1	UTSW	13	58,529,800 (GRCm39)	nonsense	probably null
R4212:Qng1	UTSW	13	58,529,805 (GRCm39)	missense	probably damaging	1.00
R4469:Qng1	UTSW	13	58,530,239 (GRCm39)	missense	probably damaging	1.00
R4712:Qng1	UTSW	13	58,529,617 (GRCm39)	missense	probably benign	0.06
R5401:Qng1	UTSW	13	58,530,405 (GRCm39)	missense	probably benign
R6876:Qng1	UTSW	13	58,532,910 (GRCm39)	missense	probably damaging	1.00
R6957:Qng1	UTSW	13	58,529,775 (GRCm39)	missense	probably damaging	1.00
R7285:Qng1	UTSW	13	58,532,199 (GRCm39)	missense	probably damaging	1.00
R7599:Qng1	UTSW	13	58,529,649 (GRCm39)	missense	probably damaging	0.99
R8553:Qng1	UTSW	13	58,532,694 (GRCm39)	missense	probably damaging	0.96
R8939:Qng1	UTSW	13	58,532,875 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCATTAACTTCTGCGCAC -3'
(R):5'- GTCCGGACATACAGAAGCAATG -3'

Sequencing Primer
(F):5'- GCATTAACTTCTGCGCACTTCTG -3'
(R):5'- CAGGCAGAGTAGTCCTGTTCAG -3'

Posted On

2015-04-17