Mutagenetix > Incidental Mutation

Incidental Mutation 'R9139:Dqx1'

694209

Institutional Source

Beutler Lab

Gene Symbol

Dqx1

Ensembl Gene

ENSMUSG00000009145

Gene Name

DEAQ RNA-dependent ATPase

Synonyms

2310066E11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R9139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83034825-83044299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 83036759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 254 (Q254H)

Ref Sequence

ENSEMBL: ENSMUSP00000076708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077502] [ENSMUST00000092618] [ENSMUST00000204803]

AlphaFold

Q924H9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077502
AA Change: Q254H

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145
AA Change: Q254H

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
DEXDc	30	236	5.01e-4	SMART
low complexity region	268	280	N/A	INTRINSIC
low complexity region	288	301	N/A	INTRINSIC
HA2	441	530	4e-19	SMART
Pfam:OB_NTP_bind	555	674	2.2e-11	PFAM
low complexity region	695	708	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092618

SMART Domains

Protein: ENSMUSP00000090281
Gene: ENSMUSG00000068328

Domain	Start	End	E-Value	Type
low complexity region	10	40	N/A	INTRINSIC
transmembrane domain	52	74	N/A	INTRINSIC
PlsC	119	222	1.04e-1	SMART
low complexity region	307	322	N/A	INTRINSIC
CUE	325	366	1.3e-9	SMART
low complexity region	378	392	N/A	INTRINSIC
low complexity region	421	439	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203915

Predicted Effect

probably benign
Transcript: ENSMUST00000204343

Predicted Effect

probably benign
Transcript: ENSMUST00000204719

Predicted Effect

SMART Domains

Protein: ENSMUSP00000144697
Gene: ENSMUSG00000009145
AA Change: Q254H

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
DEXDc	30	236	2.1e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,320,705 (GRCm39)	V288A	possibly damaging	Het
Ankhd1	T	A	18: 36,711,810 (GRCm39)	S135R		Het
Axl	G	A	7: 25,460,846 (GRCm39)	T721I	probably damaging	Het
Blnk	G	A	19: 40,922,962 (GRCm39)	A388V	probably benign	Het
C8b	T	C	4: 104,641,631 (GRCm39)	V189A	probably damaging	Het
Ccdc33	G	C	9: 57,983,842 (GRCm39)	I452M	probably benign	Het
Cfap57	T	C	4: 118,412,048 (GRCm39)	T1199A	probably benign	Het
Chga	G	A	12: 102,528,144 (GRCm39)	V212M	probably benign	Het
Cspp1	T	A	1: 10,186,875 (GRCm39)	M887K	probably damaging	Het
Cyp3a16	G	C	5: 145,406,434 (GRCm39)	A6G	unknown	Het
Cyp4f17	G	T	17: 32,743,868 (GRCm39)	E349*	probably null	Het
Dnajc13	A	T	9: 104,085,039 (GRCm39)	D791E	probably benign	Het
Dpysl5	T	C	5: 30,935,397 (GRCm39)	Y167H	probably benign	Het
Eef1g	A	G	19: 8,955,383 (GRCm39)	T411A	probably benign	Het
Fancl	C	A	11: 26,337,231 (GRCm39)	A6E	probably benign	Het
Gabrr3	A	G	16: 59,227,830 (GRCm39)	Q29R	probably benign	Het
Gtf2h2	A	C	13: 100,617,778 (GRCm39)	L168R	probably damaging	Het
Hacl1	T	A	14: 31,338,338 (GRCm39)	Q413L	probably benign	Het
Hdc	A	T	2: 126,439,837 (GRCm39)	V372E	probably damaging	Het
Hr	A	T	14: 70,795,079 (GRCm39)	H208L	possibly damaging	Het
Htr6	T	C	4: 138,789,501 (GRCm39)	R255G	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kank2	A	G	9: 21,681,370 (GRCm39)	V747A	probably damaging	Het
Kif5c	A	G	2: 49,620,291 (GRCm39)	T508A	probably benign	Het
Klhdc8b	A	G	9: 108,326,927 (GRCm39)	V145A	probably damaging	Het
Klk1b21	T	A	7: 43,754,924 (GRCm39)	V73D	probably damaging	Het
Ksr1	T	A	11: 78,911,572 (GRCm39)	M737L	probably benign	Het
Macf1	T	C	4: 123,328,564 (GRCm39)	Y4723C	probably damaging	Het
Mcm7	T	C	5: 138,167,397 (GRCm39)	Y182C	probably damaging	Het
Mtf2	T	C	5: 108,252,398 (GRCm39)		probably null	Het
Nrxn2	A	T	19: 6,498,299 (GRCm39)	T255S	probably benign	Het
Or10v9	A	G	19: 11,832,666 (GRCm39)	L217P	probably damaging	Het
Or10x4	A	T	1: 174,218,649 (GRCm39)	T5S	probably damaging	Het
Or11g25	T	C	14: 50,723,707 (GRCm39)	L264P	probably damaging	Het
Or2z2	T	A	11: 58,345,999 (GRCm39)	T259S	possibly damaging	Het
Or52k2	T	A	7: 102,254,185 (GRCm39)	I208N	probably damaging	Het
Or9m1	A	T	2: 87,733,108 (GRCm39)	M304K	probably benign	Het
Pamr1	T	A	2: 102,464,766 (GRCm39)	V305E	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Peg10	C	T	6: 4,757,128 (GRCm39)	T568M	unknown	Het
Polr3a	A	G	14: 24,519,416 (GRCm39)	F664S	probably damaging	Het
Prb1a	T	A	6: 132,185,306 (GRCm39)	N109I	unknown	Het
Prdm2	T	C	4: 142,858,752 (GRCm39)	I1513V	probably benign	Het
Prkd3	A	C	17: 79,269,969 (GRCm39)	V564G	possibly damaging	Het
Prss16	A	G	13: 22,192,513 (GRCm39)	S151P	probably damaging	Het
Rnf150	C	T	8: 83,590,588 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,038,261 (GRCm39)	T786A	probably benign	Het
Scin	A	G	12: 40,113,236 (GRCm39)	V645A	possibly damaging	Het
Slc25a20	T	A	9: 108,557,398 (GRCm39)	M177K	probably benign	Het
Slc2a6	G	A	2: 26,914,334 (GRCm39)	S261L	possibly damaging	Het
Slc4a7	A	T	14: 14,796,115 (GRCm38)	D1118V	probably damaging	Het
Slc7a2	T	C	8: 41,358,709 (GRCm39)	W351R	probably damaging	Het
Sp8	G	A	12: 118,812,174 (GRCm39)	G10S	probably damaging	Het
St8sia2	A	G	7: 73,616,513 (GRCm39)	I175T	probably damaging	Het
Tas2r122	T	A	6: 132,688,779 (GRCm39)	N38I	probably benign	Het
Trim31	C	T	17: 37,209,382 (GRCm39)	T46M	possibly damaging	Het
Trim31	A	G	17: 37,220,145 (GRCm39)	K354E	probably benign	Het
Trio	G	A	15: 27,749,922 (GRCm39)	Q2260*	probably null	Het
Trpm1	T	C	7: 63,848,943 (GRCm39)	I63T	probably benign	Het
Ugt2b37	T	C	5: 87,399,636 (GRCm39)	K291E	probably benign	Het
Usp54	T	C	14: 20,627,162 (GRCm39)	T499A	probably benign	Het
Vmn1r35	T	C	6: 66,655,933 (GRCm39)	I246V	probably benign	Het
Vmn2r6	A	G	3: 64,464,277 (GRCm39)	S186P	probably benign	Het
Vmn2r76	T	A	7: 85,879,170 (GRCm39)	M377L	probably benign	Het
Zeb2	A	C	2: 44,878,637 (GRCm39)	M1243R	possibly damaging	Het

Other mutations in Dqx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:Dqx1	APN	6	83,043,408 (GRCm39)	unclassified	probably benign
IGL02158:Dqx1	APN	6	83,035,891 (GRCm39)	splice site	probably benign
IGL02288:Dqx1	APN	6	83,037,309 (GRCm39)	missense	probably damaging	0.98
IGL02801:Dqx1	APN	6	83,037,476 (GRCm39)	splice site	probably null
IGL02929:Dqx1	APN	6	83,037,465 (GRCm39)	unclassified	probably benign
R0396:Dqx1	UTSW	6	83,035,986 (GRCm39)	missense	probably benign	0.00
R0448:Dqx1	UTSW	6	83,037,326 (GRCm39)	missense	probably damaging	1.00
R0471:Dqx1	UTSW	6	83,036,407 (GRCm39)	splice site	probably benign
R1022:Dqx1	UTSW	6	83,038,070 (GRCm39)	missense	probably damaging	1.00
R1023:Dqx1	UTSW	6	83,038,070 (GRCm39)	missense	probably damaging	1.00
R1024:Dqx1	UTSW	6	83,038,070 (GRCm39)	missense	probably damaging	1.00
R1480:Dqx1	UTSW	6	83,036,433 (GRCm39)	missense	possibly damaging	0.61
R1804:Dqx1	UTSW	6	83,037,303 (GRCm39)	missense	probably damaging	1.00
R1848:Dqx1	UTSW	6	83,043,088 (GRCm39)	missense	probably damaging	1.00
R1982:Dqx1	UTSW	6	83,035,558 (GRCm39)	missense	probably damaging	1.00
R2064:Dqx1	UTSW	6	83,035,524 (GRCm39)	unclassified	probably benign
R2350:Dqx1	UTSW	6	83,036,068 (GRCm39)	nonsense	probably null
R3110:Dqx1	UTSW	6	83,035,953 (GRCm39)	missense	probably damaging	0.99
R3112:Dqx1	UTSW	6	83,035,953 (GRCm39)	missense	probably damaging	0.99
R3119:Dqx1	UTSW	6	83,043,216 (GRCm39)	nonsense	probably null
R4179:Dqx1	UTSW	6	83,036,460 (GRCm39)	missense	probably benign	0.03
R4180:Dqx1	UTSW	6	83,036,460 (GRCm39)	missense	probably benign	0.03
R4873:Dqx1	UTSW	6	83,037,993 (GRCm39)	missense	probably benign	0.25
R4875:Dqx1	UTSW	6	83,037,993 (GRCm39)	missense	probably benign	0.25
R4882:Dqx1	UTSW	6	83,043,069 (GRCm39)	critical splice acceptor site	probably null
R5015:Dqx1	UTSW	6	83,043,092 (GRCm39)	missense	probably benign	0.00
R5128:Dqx1	UTSW	6	83,037,548 (GRCm39)	missense	probably damaging	0.96
R5346:Dqx1	UTSW	6	83,036,700 (GRCm39)	missense	possibly damaging	0.87
R5480:Dqx1	UTSW	6	83,041,784 (GRCm39)	missense	probably damaging	0.98
R6939:Dqx1	UTSW	6	83,036,446 (GRCm39)	missense	probably damaging	0.99
R6979:Dqx1	UTSW	6	83,037,992 (GRCm39)	missense	probably damaging	1.00
R7059:Dqx1	UTSW	6	83,041,790 (GRCm39)	missense	probably benign	0.18
R7084:Dqx1	UTSW	6	83,043,436 (GRCm39)	missense	probably damaging	1.00
R7354:Dqx1	UTSW	6	83,037,957 (GRCm39)	nonsense	probably null
R7389:Dqx1	UTSW	6	83,041,775 (GRCm39)	missense	probably null	0.99
R7497:Dqx1	UTSW	6	83,036,028 (GRCm39)	missense	probably damaging	1.00
R7632:Dqx1	UTSW	6	83,036,680 (GRCm39)	missense	probably benign
R7762:Dqx1	UTSW	6	83,038,013 (GRCm39)	missense	probably damaging	1.00
R8002:Dqx1	UTSW	6	83,035,558 (GRCm39)	missense	probably damaging	1.00
R8036:Dqx1	UTSW	6	83,036,788 (GRCm39)	missense	probably damaging	1.00
R8147:Dqx1	UTSW	6	83,037,222 (GRCm39)	missense	probably benign	0.41
R8776:Dqx1	UTSW	6	83,035,619 (GRCm39)	missense	probably damaging	0.99
R8776-TAIL:Dqx1	UTSW	6	83,035,619 (GRCm39)	missense	probably damaging	0.99
R9090:Dqx1	UTSW	6	83,036,024 (GRCm39)	missense	probably benign	0.13
R9271:Dqx1	UTSW	6	83,036,024 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TACAGGGGCTCTTGAGAGATACC -3'
(R):5'- AAGTTGTTGATTCCCCTGTGC -3'

Sequencing Primer
(F):5'- GCTCTTGAGAGATACCAGACTG -3'
(R):5'- CCTGTGCAGTCTTTAGCAAAG -3'

Posted On

2022-01-20