Mutagenetix > Incidental Mutation

Incidental Mutation 'R0631:Ddx46'

57995

Institutional Source

Beutler Lab

Gene Symbol

Ddx46

Ensembl Gene

ENSMUSG00000021500

Gene Name

DEAD box helicase 46

Synonyms

8430438J23Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 46, 2200005K02Rik

MMRRC Submission

038820-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R0631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55782840-55829069 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 55787590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099479] [ENSMUST00000172272] [ENSMUST00000223736]

AlphaFold

Q569Z5

Predicted Effect

probably benign
Transcript: ENSMUST00000099479

SMART Domains

Protein: ENSMUSP00000097078
Gene: ENSMUSG00000021500

Domain	Start	End	E-Value	Type
low complexity region	9	109	N/A	INTRINSIC
Blast:DEXDc	110	348	4e-76	BLAST
DEXDc	391	592	3.27e-49	SMART
HELICc	629	710	1.55e-27	SMART
low complexity region	760	776	N/A	INTRINSIC
low complexity region	798	813	N/A	INTRINSIC
internal_repeat_1	855	894	6.68e-7	PROSPERO
low complexity region	911	925	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172272

SMART Domains

Protein: ENSMUSP00000133245
Gene: ENSMUSG00000021500

Domain	Start	End	E-Value	Type
low complexity region	9	109	N/A	INTRINSIC
Blast:DEXDc	110	348	5e-76	BLAST
DEXDc	391	596	8.03e-67	SMART
HELICc	633	714	1.55e-27	SMART
low complexity region	764	780	N/A	INTRINSIC
low complexity region	802	817	N/A	INTRINSIC
internal_repeat_1	859	898	1.04e-6	PROSPERO
low complexity region	915	929	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224551

Coding Region Coverage

1x: 99.4%
3x: 99.1%
10x: 98.1%
20x: 96.8%

Validation Efficiency

97% (129/133)

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 DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They 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. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 131 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,982,479 (GRCm39)		probably benign	Het
Afap1l2	T	C	19: 56,904,517 (GRCm39)	E594G	probably benign	Het
Ak8	T	G	2: 28,625,677 (GRCm39)	I240S	probably damaging	Het
Akap13	T	C	7: 75,264,744 (GRCm39)	V174A	probably damaging	Het
Alppl2	G	A	1: 87,017,095 (GRCm39)	T66I	probably damaging	Het
Ankrd61	T	A	5: 143,831,697 (GRCm39)	I36F	probably damaging	Het
Antxrl	T	A	14: 33,780,758 (GRCm39)		probably null	Het
Arhgef2	G	C	3: 88,541,743 (GRCm39)	V244L	probably damaging	Het
Arid1a	A	G	4: 133,416,481 (GRCm39)	I1098T	unknown	Het
Atr	T	C	9: 95,756,830 (GRCm39)	V903A	possibly damaging	Het
B3gnt6	C	A	7: 97,842,899 (GRCm39)	A354S	probably benign	Het
Bnc1	A	T	7: 81,624,114 (GRCm39)	I371N	probably damaging	Het
Camsap1	A	T	2: 25,823,659 (GRCm39)	S1464T	probably damaging	Het
Cand2	G	A	6: 115,780,766 (GRCm39)	E1217K	probably damaging	Het
Cass4	T	C	2: 172,274,331 (GRCm39)	I728T	probably damaging	Het
Ccdc88a	A	T	11: 29,443,752 (GRCm39)	M1378L	probably damaging	Het
Ccdc9	C	A	7: 16,012,384 (GRCm39)	W266L	probably damaging	Het
Cct6b	C	A	11: 82,627,914 (GRCm39)		probably null	Het
Cd177	T	C	7: 24,456,111 (GRCm39)	E219G	probably benign	Het
Cdkal1	A	T	13: 29,538,667 (GRCm39)	Y497*	probably null	Het
Chmp2a	T	C	7: 12,766,371 (GRCm39)	E107G	probably damaging	Het
Chrna2	T	G	14: 66,386,757 (GRCm39)	V301G	probably benign	Het
Chrna7	A	G	7: 62,749,391 (GRCm39)	C364R	probably benign	Het
Cltc	G	T	11: 86,603,439 (GRCm39)	L796I	probably benign	Het
Col12a1	T	C	9: 79,610,658 (GRCm39)	T249A	probably damaging	Het
Col13a1	G	A	10: 61,723,129 (GRCm39)	Q270*	probably null	Het
Col6a1	C	T	10: 76,545,569 (GRCm39)	V968M	probably benign	Het
Copb1	C	A	7: 113,832,517 (GRCm39)	V511F	probably benign	Het
Daw1	C	G	1: 83,174,981 (GRCm39)	S160R	probably damaging	Het
Depdc7	T	C	2: 104,552,332 (GRCm39)	K492E	possibly damaging	Het
Dmbt1	C	T	7: 130,699,383 (GRCm39)	A1004V	possibly damaging	Het
Dnah7b	G	A	1: 46,280,152 (GRCm39)	V2694I	probably benign	Het
Dnhd1	T	A	7: 105,300,831 (GRCm39)	F63I	probably benign	Het
Edc4	C	A	8: 106,617,424 (GRCm39)	A1052E	possibly damaging	Het
Eif2s2	T	A	2: 154,726,278 (GRCm39)	K129M	probably damaging	Het
Emx2	A	G	19: 59,452,460 (GRCm39)	D248G	probably damaging	Het
Erich6b	T	C	14: 75,896,449 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,394,400 (GRCm39)	K507E	probably benign	Het
Fanci	T	A	7: 79,055,953 (GRCm39)	V195E	probably damaging	Het
Fgfr2	T	G	7: 129,828,969 (GRCm39)		probably benign	Het
Frem1	A	G	4: 82,890,402 (GRCm39)	S1007P	probably damaging	Het
Fry	T	C	5: 150,419,817 (GRCm39)	I993T	possibly damaging	Het
Fst	A	G	13: 114,591,038 (GRCm39)	S244P	possibly damaging	Het
Gcc1	T	C	6: 28,421,009 (GRCm39)	T103A	probably damaging	Het
Gdf2	C	T	14: 33,663,178 (GRCm39)	P24L	probably damaging	Het
Gja3	T	C	14: 57,274,219 (GRCm39)	D51G	possibly damaging	Het
Gm10305	A	G	4: 99,161,313 (GRCm39)	D74G	unknown	Het
Gm12689	G	T	4: 99,184,258 (GRCm39)	G37V	unknown	Het
Gm5424	C	T	10: 61,907,313 (GRCm39)		noncoding transcript	Het
Hephl1	T	C	9: 14,995,820 (GRCm39)	E434G	probably benign	Het
Hoatz	T	A	9: 51,013,253 (GRCm39)	R6S	probably benign	Het
Htatip2	T	C	7: 49,423,059 (GRCm39)	C205R	possibly damaging	Het
Igf2r	T	C	17: 12,936,161 (GRCm39)		probably null	Het
Ints2	T	C	11: 86,124,022 (GRCm39)	I589V	probably benign	Het
Itgae	T	A	11: 73,005,733 (GRCm39)	V299D	probably damaging	Het
Kcnma1	T	C	14: 23,559,852 (GRCm39)		probably benign	Het
Kif11	A	G	19: 37,401,565 (GRCm39)		probably benign	Het
Kif13a	A	G	13: 46,932,364 (GRCm39)		probably benign	Het
Kif18a	T	A	2: 109,128,667 (GRCm39)		probably benign	Het
Klhl29	T	C	12: 5,144,883 (GRCm39)	T406A	probably benign	Het
Litaf	A	T	16: 10,784,276 (GRCm39)		probably benign	Het
Lmntd1	T	A	6: 145,375,726 (GRCm39)	I71F	probably benign	Het
Lrit3	A	C	3: 129,582,204 (GRCm39)	C594W	probably damaging	Het
Lrp6	T	A	6: 134,456,738 (GRCm39)	Q842L	possibly damaging	Het
Lrrcc1	T	A	3: 14,605,179 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,349,317 (GRCm39)	L1829*	probably null	Het
Mapk1ip1	T	C	7: 138,437,684 (GRCm39)	T249A	possibly damaging	Het
Mfap4	T	C	11: 61,378,006 (GRCm39)	F173L	probably damaging	Het
Mfsd9	C	A	1: 40,829,634 (GRCm39)		probably benign	Het
Mgat4b	T	C	11: 50,121,590 (GRCm39)	S69P	probably damaging	Het
Mki67	A	T	7: 135,306,117 (GRCm39)	V620D	probably damaging	Het
Moxd1	C	T	10: 24,128,852 (GRCm39)	T201I	probably damaging	Het
Msh4	G	C	3: 153,572,057 (GRCm39)	D774E	probably benign	Het
Myg1	C	T	15: 102,240,284 (GRCm39)	R37C	probably benign	Het
Myrf	C	A	19: 10,206,246 (GRCm39)	A57S	probably benign	Het
Ndst1	G	A	18: 60,833,431 (GRCm39)		probably benign	Het
Nedd4l	A	T	18: 65,341,574 (GRCm39)		probably benign	Het
Neil2	T	A	14: 63,420,849 (GRCm39)	I281F	possibly damaging	Het
Nfatc2	T	A	2: 168,432,035 (GRCm39)	D26V	probably benign	Het
Nt5c	A	G	11: 115,381,540 (GRCm39)		probably null	Het
Or13a24	T	G	7: 140,154,420 (GRCm39)	M118R	probably damaging	Het
Or2w1b	G	T	13: 21,300,078 (GRCm39)	C72F	probably damaging	Het
Or2z8	T	A	8: 72,812,166 (GRCm39)	I214N	probably damaging	Het
Or5ac20	A	G	16: 59,104,570 (GRCm39)	C97R	possibly damaging	Het
Or5t15	T	C	2: 86,681,311 (GRCm39)	T244A	probably benign	Het
Ovch2	A	G	7: 107,381,228 (GRCm39)	S557P	probably benign	Het
Pik3cg	A	G	12: 32,255,202 (GRCm39)	S262P	probably benign	Het
Pla2g6	T	A	15: 79,190,596 (GRCm39)	H322L	probably damaging	Het
Plch1	A	T	3: 63,606,640 (GRCm39)	L1079Q	probably benign	Het
Plekhg4	T	A	8: 106,105,934 (GRCm39)	V777D	probably damaging	Het
Plekhg5	A	G	4: 152,196,876 (GRCm39)	D747G	possibly damaging	Het
Poln	C	A	5: 34,276,302 (GRCm39)	V318F	possibly damaging	Het
Pou5f2	T	A	13: 78,173,873 (GRCm39)	S272T	probably benign	Het
Ppp1r3e	T	G	14: 55,114,073 (GRCm39)	S200R	possibly damaging	Het
Prl7d1	G	A	13: 27,894,165 (GRCm39)	P135S	probably benign	Het
Ptgs2	G	A	1: 149,980,288 (GRCm39)	V409I	probably benign	Het
Ptk2b	T	C	14: 66,415,200 (GRCm39)	T276A	probably damaging	Het
Ptpn3	T	C	4: 57,204,921 (GRCm39)	T747A	probably damaging	Het
Qrfpr	A	G	3: 36,276,138 (GRCm39)	I84T	probably damaging	Het
Rab44	A	G	17: 29,358,118 (GRCm39)	D102G	possibly damaging	Het
Rimoc1	A	G	15: 4,015,971 (GRCm39)		probably benign	Het
Rnf125	A	T	18: 21,112,140 (GRCm39)	D57V	possibly damaging	Het
Rnf145	T	C	11: 44,450,851 (GRCm39)	F392L	probably damaging	Het
Rttn	A	G	18: 89,007,670 (GRCm39)	N435S	probably benign	Het
Scn8a	A	G	15: 100,933,418 (GRCm39)	T1500A	probably damaging	Het
Sgsm1	A	G	5: 113,432,989 (GRCm39)		probably benign	Het
Sgsm3	A	T	15: 80,895,937 (GRCm39)	*751C	probably null	Het
Slc35c2	A	C	2: 165,122,849 (GRCm39)	L145R	probably damaging	Het
Slc4a7	A	T	14: 14,757,382 (GRCm38)	E396V	probably damaging	Het
Smarca4	G	C	9: 21,570,280 (GRCm39)		probably benign	Het
Snapc3	T	A	4: 83,336,039 (GRCm39)	V17D	probably damaging	Het
Snta1	G	T	2: 154,218,992 (GRCm39)	Q448K	probably benign	Het
Sptbn2	A	G	19: 4,790,014 (GRCm39)	D1334G	probably benign	Het
Stard5	A	G	7: 83,281,965 (GRCm39)	R41G	probably damaging	Het
Stxbp5	T	A	10: 9,660,102 (GRCm39)	N731I	probably benign	Het
Tmem135	T	A	7: 88,792,996 (GRCm39)	K413*	probably null	Het
Tmem38a	G	A	8: 73,333,862 (GRCm39)	V114I	probably benign	Het
Tpr	A	G	1: 150,298,282 (GRCm39)	T1057A	probably damaging	Het
Ttc23l	A	T	15: 10,540,066 (GRCm39)	L139Q	probably damaging	Het
Ttn	T	A	2: 76,585,640 (GRCm39)		probably null	Het
Tuba3b	A	G	6: 145,565,302 (GRCm39)	T257A	probably damaging	Het
Tubgcp6	A	C	15: 88,985,190 (GRCm39)	Y1633D	probably damaging	Het
Txnl1	C	T	18: 63,804,644 (GRCm39)		probably benign	Het
Unc13b	A	G	4: 43,182,849 (GRCm39)	Q3186R	possibly damaging	Het
Vmn2r75	T	A	7: 85,812,478 (GRCm39)	S514C	probably null	Het
Whrn	G	A	4: 63,337,726 (GRCm39)	T545I	probably damaging	Het
Zdhhc20	T	C	14: 58,095,097 (GRCm39)	H154R	probably damaging	Het
Zfp462	A	T	4: 55,007,563 (GRCm39)	M1L	possibly damaging	Het
Zfp831	A	G	2: 174,487,083 (GRCm39)	K586R	possibly damaging	Het
Zfp990	A	T	4: 145,263,872 (GRCm39)	H290L	possibly damaging	Het
Zfpm1	C	T	8: 123,063,613 (GRCm39)		probably benign	Het

Other mutations in Ddx46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Ddx46	APN	13	55,814,145 (GRCm39)	nonsense	probably null
IGL01137:Ddx46	APN	13	55,817,530 (GRCm39)	nonsense	probably null
IGL01432:Ddx46	APN	13	55,785,835 (GRCm39)	splice site	probably benign
IGL01575:Ddx46	APN	13	55,801,996 (GRCm39)	splice site	probably benign
IGL01673:Ddx46	APN	13	55,800,861 (GRCm39)	missense	probably damaging	1.00
IGL01868:Ddx46	APN	13	55,787,683 (GRCm39)	nonsense	probably null
IGL01945:Ddx46	APN	13	55,802,885 (GRCm39)	nonsense	probably null
IGL02106:Ddx46	APN	13	55,825,416 (GRCm39)	unclassified	probably benign
IGL03288:Ddx46	APN	13	55,785,907 (GRCm39)	missense	unknown
immersion	UTSW	13	55,823,892 (GRCm39)	missense	probably damaging	1.00
steeped	UTSW	13	55,798,291 (GRCm39)	missense	probably damaging	1.00
R0270:Ddx46	UTSW	13	55,821,917 (GRCm39)	missense	probably benign	0.00
R1082:Ddx46	UTSW	13	55,802,909 (GRCm39)	missense	possibly damaging	0.87
R1502:Ddx46	UTSW	13	55,811,122 (GRCm39)	missense	possibly damaging	0.89
R2081:Ddx46	UTSW	13	55,821,829 (GRCm39)	missense	probably benign	0.00
R2256:Ddx46	UTSW	13	55,795,521 (GRCm39)	missense	possibly damaging	0.50
R4366:Ddx46	UTSW	13	55,811,049 (GRCm39)	missense	probably benign	0.10
R4856:Ddx46	UTSW	13	55,786,012 (GRCm39)	missense	unknown
R4886:Ddx46	UTSW	13	55,786,012 (GRCm39)	missense	unknown
R5001:Ddx46	UTSW	13	55,800,732 (GRCm39)	missense	probably damaging	0.98
R5152:Ddx46	UTSW	13	55,806,843 (GRCm39)	missense	probably damaging	1.00
R5258:Ddx46	UTSW	13	55,800,837 (GRCm39)	missense	possibly damaging	0.95
R5278:Ddx46	UTSW	13	55,823,851 (GRCm39)	missense	probably damaging	0.97
R5806:Ddx46	UTSW	13	55,811,150 (GRCm39)	missense	possibly damaging	0.93
R6627:Ddx46	UTSW	13	55,800,748 (GRCm39)	missense	probably benign	0.15
R6659:Ddx46	UTSW	13	55,817,537 (GRCm39)	missense	probably damaging	1.00
R6838:Ddx46	UTSW	13	55,787,748 (GRCm39)	critical splice donor site	probably null
R7235:Ddx46	UTSW	13	55,811,053 (GRCm39)	missense	probably benign	0.01
R7537:Ddx46	UTSW	13	55,798,291 (GRCm39)	missense	probably damaging	1.00
R7664:Ddx46	UTSW	13	55,806,864 (GRCm39)	missense	probably damaging	1.00
R7673:Ddx46	UTSW	13	55,806,972 (GRCm39)	missense	probably benign	0.01
R7704:Ddx46	UTSW	13	55,821,832 (GRCm39)	missense	probably benign	0.00
R7943:Ddx46	UTSW	13	55,817,535 (GRCm39)	missense	probably damaging	1.00
R8188:Ddx46	UTSW	13	55,814,029 (GRCm39)	missense	possibly damaging	0.95
R8324:Ddx46	UTSW	13	55,811,727 (GRCm39)	missense	probably damaging	1.00
R8880:Ddx46	UTSW	13	55,814,033 (GRCm39)	missense	probably benign	0.07
R9059:Ddx46	UTSW	13	55,799,921 (GRCm39)	missense	probably benign	0.00
R9141:Ddx46	UTSW	13	55,823,892 (GRCm39)	missense	probably damaging	1.00
R9167:Ddx46	UTSW	13	55,802,915 (GRCm39)	missense	probably null	1.00
R9199:Ddx46	UTSW	13	55,825,342 (GRCm39)	missense	probably damaging	1.00
R9295:Ddx46	UTSW	13	55,811,599 (GRCm39)	missense	possibly damaging	0.95
R9613:Ddx46	UTSW	13	55,787,749 (GRCm39)	critical splice donor site	probably null
R9703:Ddx46	UTSW	13	55,824,635 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATTAGCTCAGCCAGTGACCAGG -3'
(R):5'- GGGCTTACCTCAAATGGTGACCAG -3'

Sequencing Primer
(F):5'- CTAAGGTCACTATGGGAACTAGTGTC -3'
(R):5'- TGCCTGAGACAATAGTCACTG -3'

Posted On

2013-07-11