Mutagenetix > Incidental Mutation

Incidental Mutation 'R2256:Ddx46'

243402

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

040256-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R2256 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55782840-55829069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55795521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 177 (K177E)

Ref Sequence

ENSEMBL: ENSMUSP00000097078 (fasta)

Gene Model

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

AlphaFold

Q569Z5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099479
AA Change: K177E

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097078
Gene: ENSMUSG00000021500
AA Change: K177E

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
AA Change: K177E

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133245
Gene: ENSMUSG00000021500
AA Change: K177E

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
AA Change: K177E

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224551

Meta Mutation Damage Score

0.0627

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

98% (97/99)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 9,008,431 (GRCm39)	S1200P	probably damaging	Het
Acadsb	A	G	7: 131,045,382 (GRCm39)	Y438C	probably benign	Het
Acp7	A	C	7: 28,313,838 (GRCm39)	W399G	probably damaging	Het
Actr3b	A	G	5: 26,027,403 (GRCm39)	T113A	possibly damaging	Het
Adgrv1	T	C	13: 81,654,259 (GRCm39)	D2204G	probably benign	Het
Ago1	A	G	4: 126,335,704 (GRCm39)	V669A	possibly damaging	Het
Ang5	T	A	14: 44,199,978 (GRCm39)	L14Q	probably null	Het
Aoc1	T	C	6: 48,883,374 (GRCm39)	Y417H	possibly damaging	Het
Arhgap32	T	C	9: 32,158,793 (GRCm39)	I186T	probably damaging	Het
Atf2	A	T	2: 73,675,855 (GRCm39)		probably null	Het
Atg4a	A	G	X: 139,890,984 (GRCm39)	I91V	probably benign	Het
Atp7b	T	G	8: 22,488,282 (GRCm39)	T1102P	probably damaging	Het
Bend5	A	C	4: 111,288,207 (GRCm39)		probably benign	Het
Camkk2	T	C	5: 122,884,398 (GRCm39)	D341G	probably damaging	Het
Cast	T	A	13: 74,888,024 (GRCm39)	I208L	probably damaging	Het
Ccdc141	A	T	2: 76,962,606 (GRCm39)	W113R	probably damaging	Het
Cdk14	T	A	5: 4,938,924 (GRCm39)	M433L	probably benign	Het
Cel	A	G	2: 28,451,204 (GRCm39)	F51S	probably damaging	Het
Cenpc1	A	G	5: 86,164,062 (GRCm39)	L853S	probably damaging	Het
Cep162	C	A	9: 87,088,967 (GRCm39)	D972Y	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Clasrp	A	G	7: 19,320,510 (GRCm39)		probably benign	Het
Cntnap5c	T	A	17: 58,637,310 (GRCm39)	N1062K	probably benign	Het
Col3a1	A	G	1: 45,360,792 (GRCm39)	D74G	unknown	Het
Copb1	T	A	7: 113,853,110 (GRCm39)	D29V	possibly damaging	Het
Cox6a1	C	T	5: 115,486,907 (GRCm39)	E35K	possibly damaging	Het
Cyp2b9	G	A	7: 25,873,030 (GRCm39)		probably null	Het
Dmbt1	T	C	7: 130,692,224 (GRCm39)	F823L	probably benign	Het
Drc7	A	T	8: 95,801,637 (GRCm39)	H666L	probably benign	Het
Fam228a	T	C	12: 4,787,775 (GRCm39)		probably benign	Het
Fam83e	A	T	7: 45,378,193 (GRCm39)	K406*	probably null	Het
Fam83e	A	T	7: 45,378,194 (GRCm39)	K406M	possibly damaging	Het
Fam90a1a	T	A	8: 22,453,533 (GRCm39)	L296Q	possibly damaging	Het
Fat1	A	G	8: 45,403,408 (GRCm39)	Y53C	probably damaging	Het
Fhdc1	T	C	3: 84,353,353 (GRCm39)	E624G	probably benign	Het
Fryl	T	A	5: 73,230,187 (GRCm39)	N1657Y	possibly damaging	Het
Fsip2	T	A	2: 82,793,095 (GRCm39)	D417E	probably benign	Het
Garin5b	T	A	7: 4,774,020 (GRCm39)	M31L	probably benign	Het
Greb1l	A	G	18: 10,503,307 (GRCm39)	M453V	possibly damaging	Het
Gtf2b	A	G	3: 142,487,185 (GRCm39)	D207G	probably benign	Het
Has3	C	A	8: 107,600,888 (GRCm39)	L117I	probably damaging	Het
Iqca1l	C	T	5: 24,757,038 (GRCm39)		probably benign	Het
Jmjd1c	T	A	10: 67,061,073 (GRCm39)	I1142N	probably damaging	Het
Lipt2	C	T	7: 99,808,601 (GRCm39)	T38I	probably benign	Het
Magea2	A	T	X: 153,810,855 (GRCm39)	L243Q	probably damaging	Het
Mast4	A	T	13: 102,872,259 (GRCm39)	C2178S	possibly damaging	Het
Mctp2	A	G	7: 71,835,568 (GRCm39)	L543P	probably damaging	Het
Mmut	A	T	17: 41,267,210 (GRCm39)	I595F	probably benign	Het
Mphosph9	C	T	5: 124,421,722 (GRCm39)	V740I	probably benign	Het
Mtrex	A	T	13: 113,013,046 (GRCm39)	M890K	probably damaging	Het
Myo1e	G	A	9: 70,285,655 (GRCm39)		probably null	Het
Nlrc4	A	G	17: 74,752,625 (GRCm39)	I586T	probably damaging	Het
Nom1	T	A	5: 29,642,750 (GRCm39)	V417D	probably damaging	Het
Nphs1	A	T	7: 30,167,417 (GRCm39)	I782F	possibly damaging	Het
Numa1	A	G	7: 101,649,998 (GRCm39)	E1243G	probably damaging	Het
Or4a81	T	C	2: 89,618,814 (GRCm39)	H294R	probably benign	Het
Or4k42	T	C	2: 111,320,323 (GRCm39)	Y60C	probably damaging	Het
Or52e7	A	G	7: 104,685,026 (GRCm39)	Y207C	probably benign	Het
Or5g23	T	A	2: 85,438,807 (GRCm39)	Y149F	possibly damaging	Het
Or5p54	A	T	7: 107,554,244 (GRCm39)	Y132F	probably damaging	Het
Orai2	C	T	5: 136,190,454 (GRCm39)	V52I	probably damaging	Het
Osbpl5	A	G	7: 143,262,831 (GRCm39)	C186R	probably damaging	Het
Osbpl6	A	G	2: 76,414,818 (GRCm39)	E403G	probably damaging	Het
Padi4	G	A	4: 140,487,251 (GRCm39)	T217I	possibly damaging	Het
Parm1	C	T	5: 91,741,980 (GRCm39)	T116I	possibly damaging	Het
Pde4dip	T	A	3: 97,625,500 (GRCm39)	Q1366L	probably damaging	Het
Phgdh	T	C	3: 98,235,607 (GRCm39)	K108E	probably benign	Het
Pold1	T	C	7: 44,183,223 (GRCm39)		probably null	Het
Ppp1r37	G	T	7: 19,295,943 (GRCm39)		probably benign	Het
Sdk2	T	C	11: 113,721,620 (GRCm39)	N1332S	probably benign	Het
Sema6d	A	G	2: 124,506,070 (GRCm39)	D626G	probably damaging	Het
Slc18b1	A	G	10: 23,686,820 (GRCm39)	N212S	probably benign	Het
Slc2a9	T	C	5: 38,610,542 (GRCm39)	T86A	probably damaging	Het
Slco1a6	A	T	6: 142,036,742 (GRCm39)	M555K	probably benign	Het
Sntg2	C	T	12: 30,286,687 (GRCm39)	W302*	probably null	Het
Spata22	T	A	11: 73,231,301 (GRCm39)	M185K	possibly damaging	Het
Stk35	T	A	2: 129,652,427 (GRCm39)	Y309*	probably null	Het
Taar8c	A	G	10: 23,976,969 (GRCm39)	V281A	probably benign	Het
Thoc1	C	A	18: 9,993,466 (GRCm39)	D608E	possibly damaging	Het
Tmem121b	A	T	6: 120,469,030 (GRCm39)	Y562*	probably null	Het
Tmem121b	A	G	6: 120,469,032 (GRCm39)	Y562H	probably damaging	Het
Tmtc4	A	T	14: 123,178,820 (GRCm39)	I449N	probably benign	Het
Tmub1	C	A	5: 24,651,922 (GRCm39)	G14V	possibly damaging	Het
Tmub1	G	A	5: 24,652,175 (GRCm39)		probably benign	Het
Tshz2	A	G	2: 169,728,397 (GRCm39)	T529A	probably damaging	Het
Ugdh	A	T	5: 65,574,458 (GRCm39)		probably benign	Het
Usp25	A	G	16: 76,910,682 (GRCm39)	K913E	probably benign	Het
Vgf	A	G	5: 137,060,401 (GRCm39)		probably benign	Het
Vmn2r19	T	A	6: 123,306,845 (GRCm39)	F451Y	probably benign	Het
Vmn2r59	A	T	7: 41,661,669 (GRCm39)	C715*	probably null	Het
Vps9d1	C	A	8: 123,971,860 (GRCm39)	A582S	probably benign	Het
Xbp1	T	G	11: 5,474,841 (GRCm39)	H247Q	probably damaging	Het
Zfp1008	A	T	13: 62,755,210 (GRCm39)	I36N	probably benign	Het
Zfp319	A	T	8: 96,055,129 (GRCm39)	M358K	possibly damaging	Het
Zfp438	A	T	18: 5,213,508 (GRCm39)	N483K	probably damaging	Het
Zfp518b	T	C	5: 38,828,979 (GRCm39)	N1009D	possibly damaging	Het
Zfp644	A	T	5: 106,783,711 (GRCm39)	H945Q	probably damaging	Het
Zgrf1	T	A	3: 127,355,646 (GRCm39)	S291T	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
R0631:Ddx46	UTSW	13	55,787,590 (GRCm39)	splice site	probably benign
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
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'- GATGGTGAACACTGAATCTATTTTGCG -3'
(R):5'- GCTCTAGCCCTCAGTTTGACAG -3'

Sequencing Primer
(F):5'- CACTGAATCTATTTTGCGTTTAAGG -3'
(R):5'- CCCTCAGTTTGACAGGGGGATG -3'

Posted On

2014-10-16