Mutagenetix > Incidental Mutation

Incidental Mutation 'R2279:Ddx42'

242988

Institutional Source

Beutler Lab

Gene Symbol

Ddx42

Ensembl Gene

ENSMUSG00000020705

Gene Name

DEAD box helicase 42

Synonyms

DEAD (Asp-Glu-Ala-Asp) box polypeptide 42, B430002H05Rik, 1810047H21Rik, SF3b125

MMRRC Submission

040278-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2279 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106107752-106139965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106133765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 580 (D580E)

Ref Sequence

ENSEMBL: ENSMUSP00000021046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021046]

AlphaFold

Q810A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000021046
AA Change: D580E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021046
Gene: ENSMUSG00000020705
AA Change: D580E

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	35	52	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
low complexity region	108	114	N/A	INTRINSIC
coiled coil region	116	143	N/A	INTRINSIC
low complexity region	149	158	N/A	INTRINSIC
DEXDc	272	474	7.61e-68	SMART
HELICc	512	593	1.58e-33	SMART
low complexity region	644	659	N/A	INTRINSIC
low complexity region	722	737	N/A	INTRINSIC
low complexity region	814	838	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152860

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	G	T	5: 90,412,576 (GRCm39)	N1249K	probably damaging	Het
Anks1b	T	C	10: 89,885,958 (GRCm39)	M218T	probably damaging	Het
Arfgef2	G	C	2: 166,707,679 (GRCm39)	G1025A	probably benign	Het
Arhgap21	T	C	2: 20,868,037 (GRCm39)	I829V	possibly damaging	Het
Arhgap42	T	C	9: 9,035,512 (GRCm39)	M277V	probably benign	Het
Cabin1	T	C	10: 75,589,295 (GRCm39)	I87M	probably benign	Het
Cdc42bpa	A	G	1: 179,864,484 (GRCm39)	N149D	probably damaging	Het
Cdh20	C	A	1: 104,875,139 (GRCm39)	A307E	probably damaging	Het
Cdk18	A	T	1: 132,043,690 (GRCm39)	Y385N	probably damaging	Het
Cfap410	T	C	10: 77,817,476 (GRCm39)	Y68H	probably damaging	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cptp	A	G	4: 155,950,878 (GRCm39)	I196T	probably damaging	Het
Cyp4b1	T	A	4: 115,497,557 (GRCm39)	Y147F	probably benign	Het
Dbf4	T	C	5: 8,471,333 (GRCm39)	N36S	possibly damaging	Het
Dbr1	G	T	9: 99,462,200 (GRCm39)	Q166H	probably benign	Het
Dnah17	T	C	11: 117,987,387 (GRCm39)	K1308E	possibly damaging	Het
Dpep1	A	T	8: 123,920,883 (GRCm39)	D21V	probably benign	Het
Dspp	G	A	5: 104,326,250 (GRCm39)	S871N	unknown	Het
En1	T	A	1: 120,534,916 (GRCm39)	*402K	probably null	Het
Eogt	G	T	6: 97,111,262 (GRCm39)	R200S	probably benign	Het
Epb41l3	A	G	17: 69,577,645 (GRCm39)	T542A	possibly damaging	Het
Fam50b	C	T	13: 34,930,823 (GRCm39)	Q100*	probably null	Het
Gask1a	T	C	9: 121,794,668 (GRCm39)	I274T	probably benign	Het
Gh	T	C	11: 106,191,613 (GRCm39)	E143G	probably damaging	Het
Hcn3	C	A	3: 89,055,168 (GRCm39)	R693L	probably benign	Het
Htra1	A	T	7: 130,563,752 (GRCm39)	I208F	probably damaging	Het
Ifna13	T	A	4: 88,562,156 (GRCm39)	E156V	probably benign	Het
Ints6	A	G	14: 62,942,131 (GRCm39)		probably null	Het
Kifc5b	A	G	17: 27,144,515 (GRCm39)	I545V	probably damaging	Het
Lrrc4c	C	T	2: 97,460,850 (GRCm39)	S492F	possibly damaging	Het
Madd	A	T	2: 90,974,028 (GRCm39)	C1419S	possibly damaging	Het
Map2k6	T	C	11: 110,390,290 (GRCm39)	S275P	probably damaging	Het
Mpp2	T	C	11: 101,955,127 (GRCm39)	E166G	probably damaging	Het
Mrpl48	G	A	7: 100,214,471 (GRCm39)	T48I	probably damaging	Het
Neu1	A	G	17: 35,153,350 (GRCm39)	D291G	probably damaging	Het
Nktr	A	G	9: 121,560,603 (GRCm39)	K116E	possibly damaging	Het
Npc1	T	C	18: 12,330,236 (GRCm39)		probably null	Het
Or6b9	A	T	7: 106,555,834 (GRCm39)	M103K	probably benign	Het
Or6c1b	A	T	10: 129,273,526 (GRCm39)	M282L	probably benign	Het
Or8k1	T	C	2: 86,047,148 (GRCm39)	E302G	probably benign	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Phactr1	A	T	13: 43,231,265 (GRCm39)	S244C	possibly damaging	Het
Prex1	A	T	2: 166,419,875 (GRCm39)	I79N	probably benign	Het
Rhebl1	A	T	15: 98,776,167 (GRCm39)	D162E	probably benign	Het
Rnf32	G	T	5: 29,430,278 (GRCm39)	V366F	probably benign	Het
Rpn2	A	G	2: 157,152,208 (GRCm39)	T394A	possibly damaging	Het
Ryr3	A	T	2: 112,479,664 (GRCm39)	M4386K	possibly damaging	Het
Sirt7	T	C	11: 120,515,321 (GRCm39)	S112G	probably damaging	Het
Slc1a6	A	T	10: 78,624,882 (GRCm39)	M96L	probably benign	Het
Slc25a29	T	C	12: 108,792,852 (GRCm39)	E242G	probably benign	Het
Slc30a2	G	T	4: 134,075,857 (GRCm39)	Q210H	probably benign	Het
Sorcs2	A	T	5: 36,199,430 (GRCm39)		probably null	Het
Spink5	A	G	18: 44,119,396 (GRCm39)	N236D	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Sytl3	A	G	17: 6,976,273 (GRCm39)		probably benign	Het
Tasor	A	C	14: 27,164,452 (GRCm39)	K253Q	probably damaging	Het
Tgm7	A	G	2: 120,929,045 (GRCm39)	S284P	probably damaging	Het
Tmem45a	A	T	16: 56,643,882 (GRCm39)	L89Q	probably damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het
Txlna	T	C	4: 129,525,935 (GRCm39)	E304G	probably damaging	Het
Zfp709	T	C	8: 72,642,934 (GRCm39)	V121A	probably benign	Het

Other mutations in Ddx42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Ddx42	APN	11	106,126,575 (GRCm39)	missense	probably damaging	0.98
IGL00833:Ddx42	APN	11	106,122,004 (GRCm39)	missense	possibly damaging	0.52
IGL01095:Ddx42	APN	11	106,138,325 (GRCm39)	missense	probably damaging	1.00
IGL01651:Ddx42	APN	11	106,138,855 (GRCm39)	missense	probably benign	0.00
IGL01715:Ddx42	APN	11	106,115,101 (GRCm39)	missense	probably damaging	1.00
IGL02097:Ddx42	APN	11	106,129,986 (GRCm39)	missense	probably benign	0.00
IGL03182:Ddx42	APN	11	106,138,353 (GRCm39)	missense	probably benign
P0045:Ddx42	UTSW	11	106,122,098 (GRCm39)	missense	probably damaging	1.00
R0504:Ddx42	UTSW	11	106,138,675 (GRCm39)	missense	probably benign	0.03
R0646:Ddx42	UTSW	11	106,123,659 (GRCm39)	missense	probably benign	0.00
R2277:Ddx42	UTSW	11	106,133,765 (GRCm39)	missense	probably damaging	1.00
R2297:Ddx42	UTSW	11	106,133,765 (GRCm39)	missense	probably damaging	1.00
R2336:Ddx42	UTSW	11	106,121,976 (GRCm39)	missense	possibly damaging	0.56
R2519:Ddx42	UTSW	11	106,136,155 (GRCm39)	missense	probably damaging	1.00
R3413:Ddx42	UTSW	11	106,138,636 (GRCm39)	missense	probably benign	0.00
R3498:Ddx42	UTSW	11	106,122,019 (GRCm39)	missense	possibly damaging	0.90
R3883:Ddx42	UTSW	11	106,138,518 (GRCm39)	missense	probably benign	0.03
R4421:Ddx42	UTSW	11	106,121,964 (GRCm39)	missense	probably damaging	1.00
R4696:Ddx42	UTSW	11	106,138,529 (GRCm39)	missense	probably benign	0.09
R4953:Ddx42	UTSW	11	106,133,766 (GRCm39)	missense	probably damaging	1.00
R5398:Ddx42	UTSW	11	106,115,724 (GRCm39)	missense	probably benign
R5669:Ddx42	UTSW	11	106,132,645 (GRCm39)	missense	probably damaging	1.00
R6091:Ddx42	UTSW	11	106,125,796 (GRCm39)	missense	probably damaging	1.00
R6139:Ddx42	UTSW	11	106,130,843 (GRCm39)	missense	probably damaging	1.00
R6643:Ddx42	UTSW	11	106,119,646 (GRCm39)	missense	probably benign	0.14
R6991:Ddx42	UTSW	11	106,129,970 (GRCm39)	missense	probably damaging	1.00
R7351:Ddx42	UTSW	11	106,138,508 (GRCm39)	missense	probably benign
R7502:Ddx42	UTSW	11	106,138,565 (GRCm39)	missense	probably benign	0.00
R7792:Ddx42	UTSW	11	106,127,822 (GRCm39)	missense	probably damaging	1.00
R8145:Ddx42	UTSW	11	106,130,887 (GRCm39)	missense	possibly damaging	0.52
R8425:Ddx42	UTSW	11	106,138,550 (GRCm39)	missense	probably benign
R9265:Ddx42	UTSW	11	106,132,435 (GRCm39)	missense	probably benign	0.01
R9523:Ddx42	UTSW	11	106,132,606 (GRCm39)	missense	probably benign	0.40
R9681:Ddx42	UTSW	11	106,125,679 (GRCm39)	missense	probably damaging	1.00
RF018:Ddx42	UTSW	11	106,123,630 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCTAGGTATGGGGAATGC -3'
(R):5'- GCCTGTTGAATTCCTTACTCAGTTG -3'

Sequencing Primer
(F):5'- TAGGTATGGGGAATGCACATTATTAG -3'
(R):5'- AACTTTGATTGCCTAACCCTTAC -3'

Posted On

2014-10-16