Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01395:Ddx19a'

79417

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddx19a

Ensembl Gene

ENSMUSG00000015023

Gene Name

DEAD box helicase 19a

Synonyms

Eif4a-rs1, DBP5, DEAD (Asp-Glu-Ala-Asp) box polypeptide 19a, Ddx19

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL01395

Quality Score

Status

Chromosome

Chromosomal Location

111701628-111724432 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 111717164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040416]

AlphaFold

Q61655

Predicted Effect

probably benign
Transcript: ENSMUST00000040416

SMART Domains

Protein: ENSMUSP00000047898
Gene: ENSMUSG00000015023

Domain	Start	End	E-Value	Type
low complexity region	39	53	N/A	INTRINSIC
DEXDc	110	309	8.58e-44	SMART
HELICc	346	433	2.59e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173183

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	T	18: 67,575,880 (GRCm39)	R52H	probably benign	Het
Alg8	T	A	7: 97,027,383 (GRCm39)	Y84N	possibly damaging	Het
B3gnt4	T	A	5: 123,649,131 (GRCm39)	F165L	probably damaging	Het
Calcrl	T	C	2: 84,198,919 (GRCm39)	I157V	probably benign	Het
Clpx	T	C	9: 65,209,133 (GRCm39)	S83P	probably benign	Het
Col7a1	G	A	9: 108,812,980 (GRCm39)		probably benign	Het
Cttn	A	G	7: 144,011,464 (GRCm39)	V115A	probably damaging	Het
Dcaf1	G	A	9: 106,735,361 (GRCm39)	V770I	possibly damaging	Het
Dennd6a	T	A	14: 26,338,056 (GRCm39)	Y175*	probably null	Het
Dhx58	C	T	11: 100,594,752 (GRCm39)	G48D	probably damaging	Het
Dnah8	T	A	17: 30,854,979 (GRCm39)	F178I	probably benign	Het
Eif5b	T	C	1: 38,076,339 (GRCm39)	I629T	probably damaging	Het
Frrs1	A	G	3: 116,694,654 (GRCm39)	I492V	probably benign	Het
Gm16505	G	A	13: 3,411,242 (GRCm39)		noncoding transcript	Het
Golga4	G	A	9: 118,364,441 (GRCm39)	G259D	probably damaging	Het
Gpatch8	T	C	11: 102,371,534 (GRCm39)	H668R	unknown	Het
Gucy2c	G	T	6: 136,675,027 (GRCm39)	Q1019K	probably damaging	Het
Hivep2	T	C	10: 14,008,544 (GRCm39)		probably null	Het
Jph2	T	C	2: 163,181,847 (GRCm39)	N439S	probably benign	Het
Knl1	T	A	2: 118,902,047 (GRCm39)	D1249E	probably damaging	Het
Lrrc37a	A	G	11: 103,394,687 (GRCm39)	V246A	probably benign	Het
Mast1	T	C	8: 85,639,444 (GRCm39)	D1295G	possibly damaging	Het
Mical2	T	A	7: 111,922,792 (GRCm39)	M599K	probably damaging	Het
Nr3c2	T	C	8: 77,635,477 (GRCm39)	S193P	possibly damaging	Het
Nr4a2	T	A	2: 57,002,165 (GRCm39)	Q33L	probably damaging	Het
Nrap	A	T	19: 56,350,225 (GRCm39)	M514K	probably damaging	Het
Or1d2	T	C	11: 74,255,713 (GRCm39)	F73L	probably damaging	Het
Or5ac16	T	A	16: 59,022,460 (GRCm39)	T110S	possibly damaging	Het
Or9i2	A	T	19: 13,816,316 (GRCm39)	S74T	probably damaging	Het
Pde5a	T	C	3: 122,611,604 (GRCm39)	I514T	probably benign	Het
Plxna4	A	G	6: 32,216,368 (GRCm39)	V569A	probably damaging	Het
Ppm1k	T	C	6: 57,490,943 (GRCm39)	H324R	probably benign	Het
Prdm5	A	G	6: 65,847,374 (GRCm39)	H155R	possibly damaging	Het
Prpf19	C	T	19: 10,878,375 (GRCm39)	T287I	probably damaging	Het
Prpf8	C	A	11: 75,385,121 (GRCm39)	A794D	possibly damaging	Het
Pygb	C	A	2: 150,643,503 (GRCm39)	Q97K	probably benign	Het
Rab27b	T	C	18: 70,118,288 (GRCm39)	K210E	probably benign	Het
Rttn	T	G	18: 89,147,894 (GRCm39)	N2182K	possibly damaging	Het
Rusc1	T	C	3: 88,999,728 (GRCm39)	Q18R	probably damaging	Het
Stat4	C	T	1: 52,051,033 (GRCm39)	R31W	probably damaging	Het
Tas2r135	T	A	6: 42,382,846 (GRCm39)	C128*	probably null	Het
Tm9sf3	T	C	19: 41,244,715 (GRCm39)	E54G	probably damaging	Het
Tmx1	A	T	12: 70,507,251 (GRCm39)		probably null	Het
Tnrc6c	T	A	11: 117,613,939 (GRCm39)	V859E	probably benign	Het
Uggt1	T	C	1: 36,194,158 (GRCm39)	D1360G	probably damaging	Het

Other mutations in Ddx19a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Ddx19a	APN	8	111,703,102 (GRCm39)	missense	probably benign
IGL01676:Ddx19a	APN	8	111,707,621 (GRCm39)	critical splice donor site	probably null
IGL02243:Ddx19a	APN	8	111,703,088 (GRCm39)	missense	probably benign	0.06
IGL02677:Ddx19a	APN	8	111,716,241 (GRCm39)	missense	probably benign	0.24
IGL02870:Ddx19a	APN	8	111,710,258 (GRCm39)	missense	probably damaging	1.00
R0416:Ddx19a	UTSW	8	111,705,689 (GRCm39)	missense	probably damaging	0.96
R1574:Ddx19a	UTSW	8	111,719,743 (GRCm39)	splice site	probably benign
R1664:Ddx19a	UTSW	8	111,716,130 (GRCm39)	missense	probably damaging	0.99
R4470:Ddx19a	UTSW	8	111,703,111 (GRCm39)	missense	probably benign	0.00
R4552:Ddx19a	UTSW	8	111,705,198 (GRCm39)	nonsense	probably null
R4668:Ddx19a	UTSW	8	111,705,716 (GRCm39)	missense	probably damaging	1.00
R4847:Ddx19a	UTSW	8	111,703,677 (GRCm39)	missense	probably damaging	1.00
R5390:Ddx19a	UTSW	8	111,707,263 (GRCm39)	nonsense	probably null
R5815:Ddx19a	UTSW	8	111,705,781 (GRCm39)	nonsense	probably null
R6842:Ddx19a	UTSW	8	111,705,257 (GRCm39)	missense	possibly damaging	0.69
R7045:Ddx19a	UTSW	8	111,719,706 (GRCm39)	missense	probably benign
R7647:Ddx19a	UTSW	8	111,703,259 (GRCm39)	splice site	probably null
R8186:Ddx19a	UTSW	8	111,710,274 (GRCm39)	missense	probably benign	0.01
R8716:Ddx19a	UTSW	8	111,710,243 (GRCm39)	missense	probably damaging	0.98
R8986:Ddx19a	UTSW	8	111,705,188 (GRCm39)	missense	probably benign	0.01
R9051:Ddx19a	UTSW	8	111,710,228 (GRCm39)	missense	probably benign	0.44
R9721:Ddx19a	UTSW	8	111,705,107 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05