Mutagenetix > Incidental Mutation

Incidental Mutation 'R4856:Ddx46'

373994

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

042467-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R4856 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

55782840-55829069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55786012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 64 (D64G)

Ref Sequence

ENSEMBL: ENSMUSP00000153328 (fasta)

Gene Model

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

AlphaFold

Q569Z5

Predicted Effect

unknown
Transcript: ENSMUST00000099479
AA Change: D64G

SMART Domains

Protein: ENSMUSP00000097078
Gene: ENSMUSG00000021500
AA Change: D64G

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

unknown
Transcript: ENSMUST00000172272
AA Change: D64G

SMART Domains

Protein: ENSMUSP00000133245
Gene: ENSMUSG00000021500
AA Change: D64G

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

unknown
Transcript: ENSMUST00000223736
AA Change: D64G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224551

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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 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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	G	A	6: 140,589,799 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp2b4	T	A	1: 133,634,518 (GRCm39)	I1177L	probably benign	Het
Bub3	A	T	7: 131,163,297 (GRCm39)	D76V	probably damaging	Het
Cacna2d4	G	A	6: 119,255,217 (GRCm39)	R578Q	possibly damaging	Het
Caprin2	A	C	6: 148,774,509 (GRCm39)	S268A	probably benign	Het
Card6	T	C	15: 5,134,623 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,319 (GRCm39)	S1103P	probably benign	Het
Cfap221	T	C	1: 119,861,934 (GRCm39)	T614A	probably damaging	Het
Cfap221	T	A	1: 119,912,488 (GRCm39)	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,584,154 (GRCm39)	T513A	probably benign	Het
Clec4g	T	A	8: 3,766,419 (GRCm39)		probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Cpne2	T	A	8: 95,290,592 (GRCm39)	D392E	probably benign	Het
Cry1	G	T	10: 84,984,634 (GRCm39)	P147T	probably damaging	Het
Cyp4a29	T	C	4: 115,110,078 (GRCm39)	V440A	probably benign	Het
Dhx34	A	G	7: 15,949,367 (GRCm39)	S354P	possibly damaging	Het
Ecm2	A	T	13: 49,676,263 (GRCm39)	I327F	possibly damaging	Het
Elavl3	T	C	9: 21,937,614 (GRCm39)	K189E	possibly damaging	Het
Enam	A	T	5: 88,636,593 (GRCm39)	R82*	probably null	Het
Erf	A	G	7: 24,945,636 (GRCm39)	V45A	probably damaging	Het
Fat3	T	A	9: 15,932,626 (GRCm39)	I1436F	probably benign	Het
Flnc	T	C	6: 29,447,889 (GRCm39)	Y1231H	probably damaging	Het
Ggta1	T	A	2: 35,292,803 (GRCm39)	H180L	possibly damaging	Het
Grin2c	T	C	11: 115,151,616 (GRCm39)	T115A	probably damaging	Het
H6pd	C	T	4: 150,067,235 (GRCm39)	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,227,008 (GRCm39)	E39G	probably benign	Het
Hnrnpul2	C	T	19: 8,807,191 (GRCm39)	P618S	probably benign	Het
Hpse2	C	T	19: 42,777,396 (GRCm39)	R590H	probably damaging	Het
Ighv1-54	C	A	12: 115,157,423 (GRCm39)	G75C	probably damaging	Het
Ighv8-11	C	A	12: 115,530,774 (GRCm39)	R118L	possibly damaging	Het
Iqcm	A	T	8: 76,615,228 (GRCm39)	R436S	possibly damaging	Het
Islr	T	C	9: 58,064,889 (GRCm39)	D206G	probably damaging	Het
Itih1	A	G	14: 30,658,658 (GRCm39)		probably null	Het
Jam2	G	A	16: 84,598,490 (GRCm39)	D34N	probably benign	Het
Klhl14	A	T	18: 21,691,029 (GRCm39)		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lrrc66	A	G	5: 73,765,910 (GRCm39)	F378L	probably benign	Het
Map10	T	A	8: 126,397,431 (GRCm39)	Y275N	probably damaging	Het
Mpi	T	C	9: 57,452,590 (GRCm39)	Y314C	probably damaging	Het
Mpp3	A	G	11: 101,915,962 (GRCm39)	Y55H	probably benign	Het
Nectin4	T	C	1: 171,212,383 (GRCm39)	V327A	possibly damaging	Het
Nlrp12	T	A	7: 3,289,072 (GRCm39)	D480V	probably damaging	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,071,594 (GRCm39)		probably benign	Het
Notch2	A	T	3: 98,009,735 (GRCm39)	Y554F	probably damaging	Het
Nrsn2	T	C	2: 152,211,531 (GRCm39)	K167E	probably benign	Het
Olr1	T	A	6: 129,470,559 (GRCm39)	K203*	probably null	Het
Or14j8	A	T	17: 38,262,962 (GRCm39)	S318T	probably benign	Het
Or2ag13	T	A	7: 106,473,177 (GRCm39)	I92F	probably damaging	Het
Or5b117	T	C	19: 13,431,885 (GRCm39)		probably null	Het
Or8b3	A	T	9: 38,314,764 (GRCm39)	N195I	probably damaging	Het
Or9i2	T	A	19: 13,815,643 (GRCm39)	E298V	probably damaging	Het
Osbpl9	T	C	4: 108,925,564 (GRCm39)	N485S	probably benign	Het
Pbk	T	A	14: 66,052,650 (GRCm39)	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,754,874 (GRCm39)	N10K	probably damaging	Het
Pik3ca	A	G	3: 32,491,312 (GRCm39)	D133G	probably damaging	Het
Pramel27	G	T	4: 143,579,873 (GRCm39)	R486L	probably benign	Het
Prl6a1	A	T	13: 27,502,983 (GRCm39)	D193V	probably damaging	Het
Rad21	G	T	15: 51,831,896 (GRCm39)	P395Q	probably damaging	Het
Reps1	T	A	10: 17,999,373 (GRCm39)	I720N	probably damaging	Het
Rpn2	T	C	2: 157,159,964 (GRCm39)		probably null	Het
Rreb1	G	A	13: 38,115,034 (GRCm39)	V798M	possibly damaging	Het
Sardh	C	T	2: 27,134,489 (GRCm39)	R9H	probably benign	Het
Scgb3a2	C	T	18: 43,899,819 (GRCm39)	P36S	probably damaging	Het
Scn10a	C	A	9: 119,523,375 (GRCm39)	G6V	possibly damaging	Het
Scn10a	C	T	9: 119,523,376 (GRCm39)	G6R	possibly damaging	Het
Scn3a	T	C	2: 65,291,376 (GRCm39)	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,777,619 (GRCm39)	H1226Q	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc12a3	G	A	8: 95,078,438 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tex52	A	T	6: 128,361,951 (GRCm39)		probably null	Het
Tma16	A	C	8: 66,934,129 (GRCm39)	C75W	probably damaging	Het
Tmem67	G	A	4: 12,089,416 (GRCm39)		probably benign	Het
Trgv4	T	C	13: 19,369,236 (GRCm39)	V29A	probably benign	Het
Trmt10a	A	T	3: 137,854,146 (GRCm39)	K75*	probably null	Het
Ttc3	T	C	16: 94,191,142 (GRCm39)	V228A	probably benign	Het
Ttn	T	C	2: 76,561,644 (GRCm39)	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,273,376 (GRCm39)		probably null	Het
Vars1	T	A	17: 35,234,702 (GRCm39)	V1177E	probably benign	Het
Vmn1r59	T	C	7: 5,457,532 (GRCm39)	D76G	possibly damaging	Het
Vmn2r114	G	T	17: 23,527,008 (GRCm39)	A508E	probably benign	Het
Vps41	G	A	13: 19,013,425 (GRCm39)	V348M	probably damaging	Het
Zbtb43	T	C	2: 33,343,944 (GRCm39)	H427R	probably damaging	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
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
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'- CGAAAACGCTCAGCATCTCG -3'
(R):5'- GGACTTCAAGGTTCTCTCTGG -3'

Sequencing Primer
(F):5'- CAGCATCTCGAGGTCGTTCTG -3'
(R):5'- CAATTTATCCGGGAAGGC -3'

Posted On

2016-03-01