Mutagenetix > Incidental Mutation

Incidental Mutation 'R5815:Ddx19a'

448999

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R5815 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111701628-111724432 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 111705781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 223 (W223*)

Ref Sequence

ENSEMBL: ENSMUSP00000047898 (fasta)

Gene Model

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

AlphaFold

Q61655

Predicted Effect

probably null
Transcript: ENSMUST00000040416
AA Change: W223*

SMART Domains

Protein: ENSMUSP00000047898
Gene: ENSMUSG00000015023
AA Change: W223*

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	A	G	11: 117,726,530 (GRCm39)	D226G	probably benign	Het
Ago2	T	C	15: 72,979,215 (GRCm39)		probably null	Het
Aldh1a1	C	A	19: 20,608,034 (GRCm39)	D285E	probably benign	Het
Alms1	T	C	6: 85,599,820 (GRCm39)	S1549P	probably damaging	Het
Apmap	T	C	2: 150,442,171 (GRCm39)	S68G	probably benign	Het
Atp8a1	A	T	5: 67,906,414 (GRCm39)	I500N	probably benign	Het
B3gnt7	A	C	1: 86,233,510 (GRCm39)	D135A	probably benign	Het
Bms1	A	T	6: 118,381,240 (GRCm39)	L692H	probably damaging	Het
Cdk17	T	A	10: 93,064,559 (GRCm39)	V276E	probably damaging	Het
Cep290	A	T	10: 100,393,970 (GRCm39)	E2059V	possibly damaging	Het
Cpxm2	C	A	7: 131,645,839 (GRCm39)	G693V	probably damaging	Het
Crocc	A	T	4: 140,762,507 (GRCm39)	V661E	probably damaging	Het
D1Pas1	A	T	1: 186,700,206 (GRCm39)	N45I	probably damaging	Het
Ddx60	C	A	8: 62,416,756 (GRCm39)	S567Y	probably damaging	Het
Dhx36	A	T	3: 62,401,176 (GRCm39)	N363K	probably damaging	Het
Gm57859	C	A	11: 113,578,783 (GRCm39)		probably null	Het
Gpr151	G	A	18: 42,712,450 (GRCm39)	T76M	probably benign	Het
Inhbc	C	T	10: 127,193,318 (GRCm39)	V233I	probably benign	Het
Ippk	C	T	13: 49,599,839 (GRCm39)	L233F	probably damaging	Het
Lama2	A	G	10: 26,862,847 (GRCm39)	V2972A	probably damaging	Het
Lrrc37a	T	C	11: 103,394,612 (GRCm39)	Q271R	probably benign	Het
Mia2	A	T	12: 59,220,892 (GRCm39)	K1083N	possibly damaging	Het
Mphosph9	A	C	5: 124,453,481 (GRCm39)	L277R	probably damaging	Het
Myo7b	A	T	18: 32,099,341 (GRCm39)	F1694I	probably damaging	Het
Obscn	T	C	11: 58,973,015 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2w6	T	C	13: 21,842,707 (GRCm39)	Y262C	probably damaging	Het
Pcdh10	A	G	3: 45,347,156 (GRCm39)	T984A	probably benign	Het
Pcdh20	T	C	14: 88,708,312 (GRCm39)	S39G	probably benign	Het
Pdia3	T	A	2: 121,266,892 (GRCm39)	Y467*	probably null	Het
Ptpn13	C	A	5: 103,745,556 (GRCm39)		probably null	Het
Reln	A	G	5: 22,152,431 (GRCm39)	M2345T	probably damaging	Het
Rnf126	A	T	10: 79,602,603 (GRCm39)	I20N	probably benign	Het
Satb1	A	G	17: 52,089,981 (GRCm39)	S289P	possibly damaging	Het
Scd4	A	T	19: 44,326,003 (GRCm39)	H119L	probably damaging	Het
Sco2	T	C	15: 89,256,574 (GRCm39)	T27A	probably benign	Het
Slc39a14	A	T	14: 70,544,194 (GRCm39)	I464N	probably damaging	Het
Slc4a8	T	A	15: 100,686,092 (GRCm39)	V220E	probably benign	Het
Themis3	C	T	17: 66,862,699 (GRCm39)	V420I	possibly damaging	Het
Tmf1	T	A	6: 97,150,364 (GRCm39)	T448S	probably benign	Het
Tspan33	G	A	6: 29,710,688 (GRCm39)	R87Q	probably damaging	Het
Vmn2r91	A	T	17: 18,326,464 (GRCm39)	M250L	probably benign	Het
Zc3h7a	A	T	16: 10,974,050 (GRCm39)	V245D	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
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
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'- GACAGCTGCTGTGCAAATG -3'
(R):5'- TCTGAAAGTGACTTGTTCTGACAC -3'

Sequencing Primer
(F):5'- TGCTGTGCAAATGGCCCAC -3'
(R):5'- GTGACTTGTTCTGACACTTCTAAGAC -3'

Posted On

2016-12-20