Mutagenetix > Incidental Mutation

Incidental Mutation 'R4470:Ddx19a'

329373

Institutional Source

Beutler Lab

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

MMRRC Submission

041727-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R4470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111701628-111724432 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111703111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 442 (V442A)

Ref Sequence

ENSEMBL: ENSMUSP00000047898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034197] [ENSMUST00000040416]

AlphaFold

Q61655

Predicted Effect

probably benign
Transcript: ENSMUST00000034197

SMART Domains

Protein: ENSMUSP00000034197
Gene: ENSMUSG00000031749

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Glyco_transf_29	94	349	3.8e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040416
AA Change: V442A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000047898
Gene: ENSMUSG00000015023
AA Change: V442A

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: ENSMUST00000130133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173183

Meta Mutation Damage Score

0.3637

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	C	16: 85,595,404 (GRCm39)	V258G	possibly damaging	Het
Adcy1	A	G	11: 7,094,804 (GRCm39)	T577A	probably benign	Het
Adgb	T	C	10: 10,274,695 (GRCm39)	N728S	probably benign	Het
Alpk1	A	G	3: 127,473,175 (GRCm39)	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,410,791 (GRCm39)	D398G	probably damaging	Het
Asah1	A	G	8: 41,796,761 (GRCm39)		probably null	Het
Atp13a1	T	C	8: 70,251,329 (GRCm39)	S495P	probably damaging	Het
Camta2	T	C	11: 70,571,766 (GRCm39)	D510G	probably damaging	Het
Cdh8	T	A	8: 100,143,321 (GRCm39)		probably benign	Het
Cul9	C	T	17: 46,849,262 (GRCm39)	A628T	probably benign	Het
Ddx41	G	A	13: 55,682,293 (GRCm39)	R205W	possibly damaging	Het
Dnah7c	T	A	1: 46,787,795 (GRCm39)	S3283T	possibly damaging	Het
Fmo9	T	A	1: 166,507,799 (GRCm39)	I19F	probably damaging	Het
Gmeb2	A	T	2: 180,906,938 (GRCm39)		probably null	Het
H2-K2	G	A	17: 34,219,035 (GRCm39)	R23C	probably benign	Het
Icam5	T	A	9: 20,946,802 (GRCm39)	C443*	probably null	Het
Il16	A	G	7: 83,300,046 (GRCm39)		probably benign	Het
Kcnj3	A	T	2: 55,327,877 (GRCm39)	H222L	probably damaging	Het
Lama4	T	A	10: 38,956,492 (GRCm39)	Y1138*	probably null	Het
Lpin3	A	G	2: 160,737,354 (GRCm39)	T134A	probably benign	Het
Man1b1	C	G	2: 25,222,867 (GRCm39)		probably benign	Het
Msc	G	C	1: 14,825,902 (GRCm39)	P24R	probably damaging	Het
Mylk	A	G	16: 34,732,522 (GRCm39)	K601E	probably benign	Het
Myzap	A	G	9: 71,499,563 (GRCm39)		probably benign	Het
Ncor2	A	T	5: 125,179,705 (GRCm39)		probably null	Het
Nrxn3	T	C	12: 90,171,515 (GRCm39)	S276P	probably damaging	Het
Or1j16	T	C	2: 36,530,233 (GRCm39)	F61L	probably damaging	Het
Or4c114	T	C	2: 88,905,382 (GRCm39)	N18D	probably benign	Het
Or4d6	T	C	19: 12,086,547 (GRCm39)		probably null	Het
Or51b4	G	A	7: 103,530,956 (GRCm39)	P165S	probably benign	Het
Or6c202	G	A	10: 128,996,383 (GRCm39)	L157F	probably benign	Het
Or8c13	A	G	9: 38,091,666 (GRCm39)	M151T	probably damaging	Het
Or8d1	T	C	9: 38,766,927 (GRCm39)	S190P	probably damaging	Het
Pramel5	T	C	4: 143,997,915 (GRCm39)	K443E	possibly damaging	Het
Rock2	C	T	12: 17,021,276 (GRCm39)	Q1019*	probably null	Het
Rps18-ps3	T	A	8: 107,989,762 (GRCm39)		noncoding transcript	Het
Sis	T	C	3: 72,835,492 (GRCm39)		probably null	Het
Slc22a21	T	A	11: 53,846,839 (GRCm39)	I345F	probably benign	Het
Sox5	A	G	6: 143,790,491 (GRCm39)	M523T	possibly damaging	Het
Taf1c	T	C	8: 120,326,361 (GRCm39)	K526R	probably benign	Het
Taf2	T	C	15: 54,922,276 (GRCm39)	D337G	possibly damaging	Het
Tbx4	A	G	11: 85,802,948 (GRCm39)	I275V	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmem9	A	G	1: 135,955,234 (GRCm39)	T123A	probably benign	Het
Trim69	A	G	2: 122,009,080 (GRCm39)	Y380C	probably damaging	Het
Vldlr	G	T	19: 27,212,219 (GRCm39)	V78L	probably damaging	Het
Vmn1r68	A	T	7: 10,261,275 (GRCm39)	N274K	probably benign	Het
Vmn2r104	G	T	17: 20,262,503 (GRCm39)	S209Y	probably damaging	Het
Vmn2r108	T	A	17: 20,682,990 (GRCm39)	N738I	probably damaging	Het
Wnt3	A	G	11: 103,703,450 (GRCm39)	D311G	probably damaging	Het
Yme1l1	T	C	2: 23,076,344 (GRCm39)		probably null	Het
Zcchc14	C	T	8: 122,378,498 (GRCm39)		probably benign	Het
Zfp148	T	C	16: 33,316,602 (GRCm39)	Y383H	probably damaging	Het
Zfp41	A	G	15: 75,490,368 (GRCm39)	R107G	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
IGL01395:Ddx19a	APN	8	111,717,164 (GRCm39)	splice site	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
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

Predicted Primers

PCR Primer
(F):5'- CTTCCCAGGAAGTCAGGTTC -3'
(R):5'- TGTCCCAGGCATGTCTTCAG -3'

Sequencing Primer
(F):5'- AGGAAGTCAGGTTCTCCCAG -3'
(R):5'- GGCATGTCTTCAGCCCAAC -3'

Posted On

2015-07-21