Mutagenetix > Incidental Mutation

Incidental Mutation 'R1574:Ddx19a'

202728

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

045014-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R1574 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111701628-111724432 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 111719743 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

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,935,296 (GRCm39)	N1276K	probably damaging	Het
Als2cl	A	G	9: 110,713,128 (GRCm39)	E6G	probably damaging	Het
Ankrd12	A	T	17: 66,293,269 (GRCm39)	D721E	probably benign	Het
Anpep	A	G	7: 79,488,155 (GRCm39)		probably null	Het
Apeh	A	T	9: 107,969,925 (GRCm39)		probably null	Het
Apob	A	T	12: 8,040,839 (GRCm39)	I655L	possibly damaging	Het
Atp2b1	T	A	10: 98,832,810 (GRCm39)	L437Q	probably damaging	Het
Cacna2d3	T	A	14: 29,073,779 (GRCm39)	R222S	probably damaging	Het
Cdc25b	T	A	2: 131,033,057 (GRCm39)		probably benign	Het
Cdon	A	G	9: 35,364,233 (GRCm39)		probably benign	Het
Cenpf	C	T	1: 189,384,910 (GRCm39)	D2457N	probably damaging	Het
Cenpo	A	T	12: 4,265,433 (GRCm39)		probably null	Het
Ces2b	G	T	8: 105,562,521 (GRCm39)	A284S	probably benign	Het
Clock	T	C	5: 76,390,679 (GRCm39)	D311G	probably damaging	Het
Csmd3	T	C	15: 47,559,257 (GRCm39)		probably null	Het
Dbil5	A	G	11: 76,109,308 (GRCm39)	M71V	probably benign	Het
Ddhd1	A	C	14: 45,833,004 (GRCm39)	L864R	probably damaging	Het
Dnah11	A	G	12: 118,024,052 (GRCm39)	C1900R	probably damaging	Het
Dnah2	A	G	11: 69,405,514 (GRCm39)	V666A	probably benign	Het
Dnah5	T	A	15: 28,252,569 (GRCm39)	M754K	probably benign	Het
Dnajc15	A	T	14: 78,063,854 (GRCm39)	S145T	probably benign	Het
Drap1	A	G	19: 5,474,285 (GRCm39)	F25S	probably damaging	Het
Drgx	A	G	14: 32,327,281 (GRCm39)		probably benign	Het
Fam83e	G	A	7: 45,376,135 (GRCm39)	E283K	probably damaging	Het
Fbxo48	G	T	11: 16,903,368 (GRCm39)		probably benign	Het
Fndc3a	A	T	14: 72,793,997 (GRCm39)	I892N	probably damaging	Het
Gcn1	A	G	5: 115,753,611 (GRCm39)	T2321A	probably benign	Het
Gm1110	G	T	9: 26,792,422 (GRCm39)		probably benign	Het
Gm5499	T	C	17: 87,386,423 (GRCm39)		noncoding transcript	Het
Gmnc	G	T	16: 26,782,729 (GRCm39)		probably benign	Het
Greb1l	A	G	18: 10,554,997 (GRCm39)	D1681G	possibly damaging	Het
Hc	G	A	2: 34,890,777 (GRCm39)		probably benign	Het
Hmcn2	A	C	2: 31,294,899 (GRCm39)	T2563P	probably damaging	Het
Iqcd	A	T	5: 120,738,300 (GRCm39)	K39N	probably damaging	Het
Irag2	T	G	6: 145,104,356 (GRCm39)		probably benign	Het
Kank2	A	G	9: 21,685,871 (GRCm39)	S668P	probably damaging	Het
Kcng1	T	A	2: 168,110,961 (GRCm39)	N68Y	probably damaging	Het
Kmt5b	T	A	19: 3,836,633 (GRCm39)		probably null	Het
Lama2	T	A	10: 27,200,750 (GRCm39)	I533F	possibly damaging	Het
Lcmt1	T	A	7: 123,002,131 (GRCm39)	I132N	probably damaging	Het
Mad2l2	G	T	4: 148,227,429 (GRCm39)		probably benign	Het
Mcph1	T	C	8: 18,851,428 (GRCm39)	I807T	probably damaging	Het
Mdn1	A	G	4: 32,722,315 (GRCm39)	I2366V	probably benign	Het
Moxd1	T	C	10: 24,176,217 (GRCm39)	W558R	probably damaging	Het
Myh13	T	C	11: 67,253,407 (GRCm39)		probably benign	Het
Myrf	T	C	19: 10,202,851 (GRCm39)	D141G	probably damaging	Het
Ncoa7	T	C	10: 30,570,097 (GRCm39)	I249M	probably damaging	Het
Obox5	T	C	7: 15,492,558 (GRCm39)	V171A	probably damaging	Het
Or13e8	A	T	4: 43,697,134 (GRCm39)	V13D	possibly damaging	Het
Or2c1	T	C	16: 3,657,521 (GRCm39)	I228T	probably damaging	Het
Or5ak20	A	T	2: 85,184,243 (GRCm39)	V9E	probably damaging	Het
Or6c219	A	G	10: 129,781,379 (GRCm39)	L69P	probably damaging	Het
Or7a36	C	A	10: 78,819,820 (GRCm39)	N32K	probably damaging	Het
Parp4	A	G	14: 56,839,752 (GRCm39)	T487A	probably damaging	Het
Pclo	A	G	5: 14,729,845 (GRCm39)		probably benign	Het
Pcnx2	G	A	8: 126,500,669 (GRCm39)	R1474C	probably damaging	Het
Qtrt2	A	G	16: 43,692,195 (GRCm39)		probably benign	Het
Sart1	G	A	19: 5,430,287 (GRCm39)	P788L	probably damaging	Het
Sdk1	A	G	5: 141,984,634 (GRCm39)	T740A	probably benign	Het
Serpinb1c	T	C	13: 33,072,979 (GRCm39)	D61G	possibly damaging	Het
Slc24a5	G	A	2: 124,922,782 (GRCm39)	G152S	probably damaging	Het
Slc6a4	A	T	11: 76,910,022 (GRCm39)	I426F	possibly damaging	Het
Stk33	C	T	7: 108,879,027 (GRCm39)	V441I	probably benign	Het
Sult1c2	A	G	17: 54,143,927 (GRCm39)		probably null	Het
Tdpoz4	T	A	3: 93,703,835 (GRCm39)	V44E	probably benign	Het
Tmprss13	C	A	9: 45,254,529 (GRCm39)	T432K	probably damaging	Het
Traf7	A	G	17: 24,729,527 (GRCm39)	L428P	probably damaging	Het
Tubb1	T	C	2: 174,299,215 (GRCm39)	I299T	probably benign	Het
Vmn1r158	A	T	7: 22,489,772 (GRCm39)	W146R	probably damaging	Het
Vmn1r42	A	G	6: 89,822,059 (GRCm39)	I170T	possibly damaging	Het
Vmn2r116	A	T	17: 23,606,063 (GRCm39)	H325L	probably damaging	Het
Zfp516	T	A	18: 83,011,300 (GRCm39)	L1111H	possibly damaging	Het
Zfp61	C	G	7: 23,990,635 (GRCm39)	K505N	probably damaging	Het
Zfp653	C	A	9: 21,969,274 (GRCm39)	E331*	probably null	Het
Zfp949	A	T	9: 88,451,830 (GRCm39)	K467*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AGAAGCCTGGAAAACATTCCTTC -3'
(R):5'- CCCCATAGCATCATGGTTAACC -3'

Sequencing Primer
(F):5'- AGCCTGGAAAACATTCCTTCTTCAG -3'
(R):5'- TGGTTAACCCATGCCCAC -3'

Posted On

2014-06-23