Mutagenetix > Incidental Mutation

Incidental Mutation 'R7351:Ddx42'

570592

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

045437-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106107752-106139965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106138508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 769 (N769S)

Ref Sequence

ENSEMBL: ENSMUSP00000021046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021046] [ENSMUST00000021048]

AlphaFold

Q810A7

Predicted Effect

probably benign
Transcript: ENSMUST00000021046
AA Change: N769S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021046
Gene: ENSMUSG00000020705
AA Change: N769S

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

probably benign
Transcript: ENSMUST00000021048

SMART Domains

Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706

Domain	Start	End	E-Value	Type
Pfam:FtsJ	24	200	2.8e-56	PFAM
low complexity region	203	218	N/A	INTRINSIC
Pfam:DUF3381	231	398	1.3e-48	PFAM
low complexity region	456	475	N/A	INTRINSIC
low complexity region	560	568	N/A	INTRINSIC
Pfam:Spb1_C	597	831	1.8e-72	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,206,159 (GRCm39)	G343V	probably damaging	Het
Adamts6	G	A	13: 104,526,620 (GRCm39)	S516N	possibly damaging	Het
Ahi1	A	G	10: 20,841,832 (GRCm39)	D301G	probably damaging	Het
Arhgef37	T	A	18: 61,631,286 (GRCm39)	L566F	possibly damaging	Het
AU040320	A	G	4: 126,710,237 (GRCm39)	N328D	probably damaging	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Brk1	T	C	6: 113,592,742 (GRCm39)	S42P	probably benign	Het
Ccdc180	A	G	4: 45,903,887 (GRCm39)	E351G	possibly damaging	Het
Cenpo	A	T	12: 4,266,581 (GRCm39)	F176I	probably damaging	Het
Cfap97d1	A	G	11: 101,882,331 (GRCm39)	E163G	probably benign	Het
Clec12b	A	G	6: 129,356,874 (GRCm39)		probably null	Het
Drc7	A	G	8: 95,785,135 (GRCm39)	D165G	probably benign	Het
Dync2h1	A	T	9: 7,167,145 (GRCm39)	I486N	probably damaging	Het
Gmip	A	G	8: 70,270,034 (GRCm39)	D679G	probably benign	Het
Gml2	T	C	15: 74,693,225 (GRCm39)	V76A	possibly damaging	Het
Gpr26	T	C	7: 131,576,094 (GRCm39)	C253R	probably damaging	Het
H2-Q4	A	G	17: 35,601,854 (GRCm39)	T239A	possibly damaging	Het
Hmcn1	T	A	1: 150,543,640 (GRCm39)	Y2845F	probably damaging	Het
Ift172	A	G	5: 31,433,240 (GRCm39)	Y550H	probably damaging	Het
Irgm2	G	A	11: 58,110,431 (GRCm39)	V41M	possibly damaging	Het
Lrp2	C	T	2: 69,278,486 (GRCm39)	G3956R	probably damaging	Het
Matn2	G	A	15: 34,345,482 (GRCm39)	R163H	probably damaging	Het
Mxd1	A	G	6: 86,628,448 (GRCm39)	S151P	probably damaging	Het
Or10ak16	T	C	4: 118,751,033 (GRCm39)	V251A	probably benign	Het
Or4a73	C	T	2: 89,420,857 (GRCm39)	G201S	probably benign	Het
Or5m10b	G	T	2: 85,694,415 (GRCm39)		probably benign	Het
Or8b3	C	T	9: 38,314,739 (GRCm39)	L190F	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plcg2	A	G	8: 118,317,049 (GRCm39)	E642G	possibly damaging	Het
Pramel6	T	A	2: 87,340,672 (GRCm39)	F335I	probably benign	Het
Psd	G	T	19: 46,310,869 (GRCm39)	S393R	probably benign	Het
Pwwp2a	A	G	11: 43,573,107 (GRCm39)	D63G	probably benign	Het
Rbm28	T	C	6: 29,158,879 (GRCm39)	T139A	probably benign	Het
Ripk2	T	G	4: 16,155,048 (GRCm39)	E157A	probably damaging	Het
Rnf145	G	A	11: 44,439,623 (GRCm39)	V140I	possibly damaging	Het
Rnf38	T	C	4: 44,149,102 (GRCm39)	N114D	probably benign	Het
Samd9l	G	A	6: 3,374,157 (GRCm39)	R1035C	probably benign	Het
Sec14l3	A	G	11: 4,024,785 (GRCm39)	T245A	probably benign	Het
Serpina10	A	T	12: 103,595,194 (GRCm39)	F8L	probably benign	Het
Slc16a8	T	A	15: 79,137,841 (GRCm39)	D56V	probably damaging	Het
Spag9	A	T	11: 93,983,802 (GRCm39)	E726D	probably benign	Het
Spg11	A	G	2: 121,900,412 (GRCm39)	F1547L	possibly damaging	Het
Sspo	T	C	6: 48,441,855 (GRCm39)	I1955T	possibly damaging	Het
Stx18	T	A	5: 38,196,755 (GRCm39)	V27E	probably benign	Het
Taf1c	A	G	8: 120,325,739 (GRCm39)	S708P	probably damaging	Het
Tas2r126	T	C	6: 42,412,240 (GRCm39)	F258L	probably benign	Het
Tdpoz2	C	T	3: 93,559,900 (GRCm39)	W24*	probably null	Het
Tmc8	T	C	11: 117,674,654 (GRCm39)	L123P	probably damaging	Het
Trmo	A	T	4: 46,387,716 (GRCm39)	Y35N	possibly damaging	Het
Ttn	C	T	2: 76,598,030 (GRCm39)	V19628I	possibly damaging	Het
Ttn	G	A	2: 76,770,274 (GRCm39)	A2685V	unknown	Het
Usp15	A	T	10: 122,968,904 (GRCm39)	M349K	probably damaging	Het
Vmn2r89	A	G	14: 51,693,739 (GRCm39)	N363S	probably benign	Het
Vwa3a	T	A	7: 120,375,559 (GRCm39)	I423N	probably damaging	Het
Zfp592	T	C	7: 80,691,439 (GRCm39)	V1206A	probably benign	Het
Zfp866	A	T	8: 70,218,547 (GRCm39)	Y358N	probably damaging	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
R2279: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
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'- CACTTTGTTGCAGCCAGTTTAAG -3'
(R):5'- GGCTACCACTTTCTGGATAACGG -3'

Sequencing Primer
(F):5'- CCAGTTTAAGTAATCAGAAGGCC -3'
(R):5'- ATGCCGATTGCCACCATC -3'

Posted On

2019-09-13