Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Ddx42'

279623

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddx42

Ensembl Gene

ENSMUSG00000020705

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 42

Synonyms

B430002H05Rik, SF3b125, 1810047H21Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

106216926-106249139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106239160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 426 (S426N)

Ref Sequence

ENSEMBL: ENSMUSP00000021046 (fasta)

Gene Model

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

AlphaFold

Q810A7

Predicted Effect

probably benign
Transcript: ENSMUST00000021046
AA Change: S426N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021046
Gene: ENSMUSG00000020705
AA Change: S426N

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 104,961,186	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,212,118	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,272,098	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,880,002	T788I	probably benign	Het
Asic1	T	C	15: 99,694,686		probably benign	Het
Cdhr4	T	A	9: 107,993,000	M68K	probably benign	Het
Cdhr5	G	T	7: 141,269,981	T637K	probably damaging	Het
Corin	A	T	5: 72,372,146	C289S	probably damaging	Het
Cpne4	T	C	9: 104,686,502	V26A	probably damaging	Het
Csmd1	T	C	8: 16,211,759	D908G	probably null	Het
Cyp2c29	A	G	19: 39,307,620	D126G	probably damaging	Het
Dnah1	C	T	14: 31,305,001	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,164,795	T246A	probably damaging	Het
Fbn1	A	T	2: 125,363,969	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527	N536S	probably benign	Het
Gnal	G	A	18: 67,217,208		probably benign	Het
Gns	A	G	10: 121,390,693	T416A	probably benign	Het
Heatr5b	G	A	17: 78,817,514	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,691,684		probably benign	Het
Krt23	C	T	11: 99,493,010	G19R	probably benign	Het
Lama2	C	T	10: 27,138,960	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,917,891	V11M	probably damaging	Het
Man1a2	T	C	3: 100,582,131	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,589,456	V241F	possibly damaging	Het
Myh3	A	G	11: 67,082,924	D141G	probably benign	Het
Mylk2	G	A	2: 152,915,136	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,238,829	T471S	probably damaging	Het
Naip1	A	G	13: 100,425,588	V1023A	probably benign	Het
Olfm5	T	A	7: 104,154,231	T342S	probably benign	Het
Olfr1510	A	G	14: 52,410,054	F273L	probably benign	Het
Olfr38	T	A	6: 42,762,460	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,735,603	F263L	probably benign	Het
Plekhh2	A	T	17: 84,599,180	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,191,501		probably benign	Het
Rbm28	G	T	6: 29,138,618	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,273,327	F234L	probably benign	Het
Sele	T	C	1: 164,053,093	S415P	probably benign	Het
Shpk	T	C	11: 73,203,995	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,306,246	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,660,619	P120S	possibly damaging	Het
Slc8a2	A	G	7: 16,157,156	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,940,039	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,202,824	D739A	probably damaging	Het
Thg1l	A	G	11: 45,950,228	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,654,479	V540M	probably damaging	Het
Wdr48	A	G	9: 119,924,263	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,386,597	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,062,894	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,381,723	Y133*	probably null	Het

Other mutations in Ddx42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Ddx42	APN	11	106235749	missense	probably damaging	0.98
IGL00833:Ddx42	APN	11	106231178	missense	possibly damaging	0.52
IGL01095:Ddx42	APN	11	106247499	missense	probably damaging	1.00
IGL01651:Ddx42	APN	11	106248029	missense	probably benign	0.00
IGL01715:Ddx42	APN	11	106224275	missense	probably damaging	1.00
IGL03182:Ddx42	APN	11	106247527	missense	probably benign
P0045:Ddx42	UTSW	11	106231272	missense	probably damaging	1.00
R0504:Ddx42	UTSW	11	106247849	missense	probably benign	0.03
R0646:Ddx42	UTSW	11	106232833	missense	probably benign	0.00
R2277:Ddx42	UTSW	11	106242939	missense	probably damaging	1.00
R2279:Ddx42	UTSW	11	106242939	missense	probably damaging	1.00
R2297:Ddx42	UTSW	11	106242939	missense	probably damaging	1.00
R2336:Ddx42	UTSW	11	106231150	missense	possibly damaging	0.56
R2519:Ddx42	UTSW	11	106245329	missense	probably damaging	1.00
R3413:Ddx42	UTSW	11	106247810	missense	probably benign	0.00
R3498:Ddx42	UTSW	11	106231193	missense	possibly damaging	0.90
R3883:Ddx42	UTSW	11	106247692	missense	probably benign	0.03
R4421:Ddx42	UTSW	11	106231138	missense	probably damaging	1.00
R4696:Ddx42	UTSW	11	106247703	missense	probably benign	0.09
R4953:Ddx42	UTSW	11	106242940	missense	probably damaging	1.00
R5398:Ddx42	UTSW	11	106224898	missense	probably benign
R5669:Ddx42	UTSW	11	106241819	missense	probably damaging	1.00
R6091:Ddx42	UTSW	11	106234970	missense	probably damaging	1.00
R6139:Ddx42	UTSW	11	106240017	missense	probably damaging	1.00
R6643:Ddx42	UTSW	11	106228820	missense	probably benign	0.14
R6991:Ddx42	UTSW	11	106239144	missense	probably damaging	1.00
R7351:Ddx42	UTSW	11	106247682	missense	probably benign
R7502:Ddx42	UTSW	11	106247739	missense	probably benign	0.00
R7792:Ddx42	UTSW	11	106236996	missense	probably damaging	1.00
R8145:Ddx42	UTSW	11	106240061	missense	possibly damaging	0.52
R8425:Ddx42	UTSW	11	106247724	missense	probably benign
R9265:Ddx42	UTSW	11	106241609	missense	probably benign	0.01
R9523:Ddx42	UTSW	11	106241780	missense	probably benign	0.40
R9681:Ddx42	UTSW	11	106234853	missense	probably damaging	1.00
RF018:Ddx42	UTSW	11	106232804	critical splice acceptor site	probably null

Posted On

2015-04-16