Mutagenetix > Incidental Mutation

Incidental Mutation 'R4212:Qng1'

319266

Institutional Source

Beutler Lab

Gene Symbol

Qng1

Ensembl Gene

ENSMUSG00000021550

Gene Name

Q-nucleotide N-glycosylase 1

Synonyms

2210016F16Rik

MMRRC Submission

041641-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R4212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58527860-58533039 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58529805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 269 (G269E)

Ref Sequence

ENSEMBL: ENSMUSP00000022032 (fasta)

Gene Model

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

AlphaFold

G3X8U3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022032
AA Change: G269E

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

SMART Domains

Protein: ENSMUSP00000022032
Gene: ENSMUSG00000021550
AA Change: G269E

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	G	T	15: 60,791,585 (GRCm39)	L284M	possibly damaging	Het
Adamts15	A	G	9: 30,817,470 (GRCm39)	V536A	probably damaging	Het
Arsi	A	T	18: 61,049,773 (GRCm39)	I219F	probably damaging	Het
Atg7	G	A	6: 114,680,386 (GRCm39)	G447E	probably benign	Het
Bdp1	T	A	13: 100,196,093 (GRCm39)	H1223L	probably benign	Het
Cep152	A	G	2: 125,461,921 (GRCm39)	M87T	probably benign	Het
Chrm3	T	C	13: 9,927,791 (GRCm39)	D415G	probably benign	Het
Chrnb2	A	T	3: 89,668,851 (GRCm39)	C155S	probably damaging	Het
Col6a4	T	A	9: 105,952,569 (GRCm39)	Q443L	probably benign	Het
Ct45a	C	T	X: 55,590,568 (GRCm39)	V78I	probably benign	Het
D5Ertd579e	A	T	5: 36,771,823 (GRCm39)	D857E	probably damaging	Het
Efcab6	T	C	15: 83,777,064 (GRCm39)	D1124G	probably damaging	Het
F830045P16Rik	C	T	2: 129,302,273 (GRCm39)	A440T	probably benign	Het
Gc	T	C	5: 89,583,434 (GRCm39)	K370E	probably benign	Het
Gm11559	A	G	11: 99,755,726 (GRCm39)	Q125R	unknown	Het
Gm3985	A	T	8: 33,432,484 (GRCm39)		noncoding transcript	Het
Gucy2e	A	G	11: 69,118,949 (GRCm39)	F681S	probably damaging	Het
Hip1r	A	G	5: 124,137,953 (GRCm39)	I760V	probably benign	Het
Islr2	C	T	9: 58,106,603 (GRCm39)	G219D	probably damaging	Het
Itgae	A	G	11: 73,010,178 (GRCm39)	H556R	probably benign	Het
Jag1	T	C	2: 136,926,990 (GRCm39)	D923G	probably benign	Het
Kmt2c	A	G	5: 25,552,357 (GRCm39)		probably null	Het
Kmt2d	A	G	15: 98,742,884 (GRCm39)		probably benign	Het
Krtap17-1	A	G	11: 99,884,740 (GRCm39)	L9P	unknown	Het
Lats2	C	T	14: 57,933,712 (GRCm39)	D802N	possibly damaging	Het
Lrfn5	A	T	12: 61,890,606 (GRCm39)	T632S	probably benign	Het
Myo9a	C	T	9: 59,813,349 (GRCm39)	R2183*	probably null	Het
Myorg	T	C	4: 41,498,307 (GRCm39)	E441G	probably benign	Het
Naip1	T	C	13: 100,563,383 (GRCm39)		probably null	Het
Nf1	T	A	11: 79,360,624 (GRCm39)	V1434E	probably damaging	Het
Nlrc4	T	C	17: 74,754,110 (GRCm39)	Y91C	possibly damaging	Het
Or4l1	A	T	14: 50,166,346 (GRCm39)	Y218*	probably null	Het
Or5b102	T	G	19: 13,041,123 (GRCm39)	M116R	probably damaging	Het
Or5k1	T	A	16: 58,617,732 (GRCm39)	H159L	possibly damaging	Het
Pard3	T	A	8: 128,336,939 (GRCm39)	I1143K	probably benign	Het
Pcdha7	A	G	18: 37,108,027 (GRCm39)	T351A	probably benign	Het
Phf2	C	A	13: 48,974,089 (GRCm39)	G318V	unknown	Het
Plch1	T	A	3: 63,778,180 (GRCm39)		probably benign	Het
Polr1c	A	G	17: 46,557,046 (GRCm39)	I79T	probably damaging	Het
Ppp2r5e	A	G	12: 75,516,325 (GRCm39)	I244T	probably damaging	Het
Psmd12	T	C	11: 107,376,585 (GRCm39)	C74R	probably damaging	Het
Ralgapa1	A	G	12: 55,786,115 (GRCm39)		probably null	Het
Robo3	C	T	9: 37,333,194 (GRCm39)	G781D	probably damaging	Het
Scn8a	T	C	15: 100,854,954 (GRCm39)	V147A	possibly damaging	Het
Sema3b	C	T	9: 107,480,597 (GRCm39)	V117M	probably damaging	Het
Sfxn5	A	T	6: 85,309,288 (GRCm39)	L139*	probably null	Het
Slc2a12	A	T	10: 22,577,993 (GRCm39)	K596N	probably benign	Het
Sorcs1	G	A	19: 50,213,613 (GRCm39)	R705C	probably damaging	Het
Spata31e4	C	T	13: 50,854,388 (GRCm39)	T82I	possibly damaging	Het
Tlr4	T	A	4: 66,758,563 (GRCm39)	I452N	probably damaging	Het
Tshz3	A	G	7: 36,469,544 (GRCm39)	D511G	probably damaging	Het
Usp44	A	G	10: 93,682,632 (GRCm39)	K314E	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
R3954:Qng1	UTSW	13	58,532,203 (GRCm39)	missense	probably damaging	0.97
R3956:Qng1	UTSW	13	58,532,203 (GRCm39)	missense	probably damaging	0.97
R4012:Qng1	UTSW	13	58,529,800 (GRCm39)	nonsense	probably null
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'- CAGTAGTAGATGCAGCGTGTG -3'
(R):5'- AGTGCAGGTTTATTCGAGGAATTAG -3'

Sequencing Primer
(F):5'- TGTGCGATGAAAAGGGACTCCC -3'
(R):5'- AGCCTCCGTTGCTGAAT -3'

Posted On

2015-06-10