Mutagenetix > Incidental Mutation

Incidental Mutation 'R1502:Ddx46'

169391

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

039552-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1502 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55782840-55829069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55811122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 573 (R573G)

Ref Sequence

ENSEMBL: ENSMUSP00000153328 (fasta)

Gene Model

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

AlphaFold

Q569Z5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099479
AA Change: R569G

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097078
Gene: ENSMUSG00000021500
AA Change: R569G

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

possibly damaging
Transcript: ENSMUST00000172272
AA Change: R573G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133245
Gene: ENSMUSG00000021500
AA Change: R573G

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

possibly damaging
Transcript: ENSMUST00000223736
AA Change: R573G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224551

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	G	11: 109,865,471 (GRCm39)	T329P	probably damaging	Het
Adamts4	C	A	1: 171,086,559 (GRCm39)	P784T	probably damaging	Het
Adamts6	T	C	13: 104,630,145 (GRCm39)	L1096P	probably damaging	Het
Ap1b1	A	G	11: 4,990,290 (GRCm39)	S849G	probably benign	Het
Arap2	T	C	5: 62,761,747 (GRCm39)	S1660G	probably benign	Het
Atp10b	A	C	11: 43,121,174 (GRCm39)	T946P	probably damaging	Het
Brpf1	A	G	6: 113,299,381 (GRCm39)	D1103G	probably damaging	Het
Bub1	A	G	2: 127,669,339 (GRCm39)	Y102H	probably damaging	Het
Ccdc182	A	G	11: 88,185,193 (GRCm39)	E91G	probably benign	Het
Cd200r4	C	T	16: 44,653,803 (GRCm39)	T154M	probably damaging	Het
Cdh20	A	G	1: 104,881,755 (GRCm39)	T407A	probably benign	Het
Col6a2	T	C	10: 76,450,512 (GRCm39)	I140V	probably benign	Het
Csn3	C	A	5: 88,077,983 (GRCm39)	T163K	probably damaging	Het
Dars2	A	T	1: 160,874,375 (GRCm39)	L438*	probably null	Het
Dbr1	T	C	9: 99,464,440 (GRCm39)	L289P	probably damaging	Het
Defb10	T	C	8: 22,348,972 (GRCm39)	I10T	possibly damaging	Het
Dis3l	T	C	9: 64,233,069 (GRCm39)	E136G	possibly damaging	Het
Dnajb13	T	C	7: 100,156,668 (GRCm39)	Q136R	probably benign	Het
Dse	A	T	10: 34,029,214 (GRCm39)	S625R	probably damaging	Het
Dvl3	A	G	16: 20,342,209 (GRCm39)	D94G	probably damaging	Het
Dynlt2a2	A	G	17: 15,187,876 (GRCm39)	F133L	probably benign	Het
E130311K13Rik	A	C	3: 63,822,968 (GRCm39)	Y225*	probably null	Het
Etnppl	A	G	3: 130,422,438 (GRCm39)	I222V	probably benign	Het
Evc2	T	C	5: 37,550,440 (GRCm39)	L818P	probably benign	Het
Fbn1	A	T	2: 125,205,626 (GRCm39)	C1083*	probably null	Het
Flnc	G	A	6: 29,438,693 (GRCm39)	V196I	probably benign	Het
Fscn3	A	G	6: 28,435,622 (GRCm39)	D415G	probably benign	Het
Gm4861	A	C	3: 137,256,381 (GRCm39)	V75G	probably damaging	Het
Gpld1	A	T	13: 25,155,399 (GRCm39)	T345S	probably benign	Het
Grik4	T	C	9: 42,432,169 (GRCm39)	S943G	probably damaging	Het
Grik4	C	T	9: 42,502,743 (GRCm39)	R460Q	probably benign	Het
Ifi207	A	C	1: 173,556,872 (GRCm39)	L629R	possibly damaging	Het
Ift52	G	A	2: 162,871,782 (GRCm39)		probably null	Het
Insl3	A	G	8: 72,142,876 (GRCm39)	D79G	probably damaging	Het
Kif5a	A	T	10: 127,081,310 (GRCm39)	I208N	probably damaging	Het
Lag3	T	C	6: 124,886,206 (GRCm39)	Y249C	probably damaging	Het
Lipe	T	C	7: 25,097,572 (GRCm39)	N124D	possibly damaging	Het
Lnpep	A	G	17: 17,791,906 (GRCm39)	Y412H	probably damaging	Het
Lrtm2	A	G	6: 119,294,235 (GRCm39)	Y299H	probably benign	Het
Lypd4	T	C	7: 24,566,253 (GRCm39)	T24A	probably benign	Het
Magi1	T	A	6: 93,671,151 (GRCm39)	I805F	probably damaging	Het
Mfap3	T	C	11: 57,418,975 (GRCm39)	L45P	probably benign	Het
Nbea	G	A	3: 55,912,310 (GRCm39)	P1159L	probably benign	Het
Ndst4	A	T	3: 125,231,407 (GRCm39)		probably benign	Het
Notch1	A	T	2: 26,374,335 (GRCm39)	N229K	possibly damaging	Het
Nova1	A	G	12: 46,767,615 (GRCm39)	I102T	unknown	Het
Npepps	T	C	11: 97,109,401 (GRCm39)	E725G	possibly damaging	Het
Or11g27	A	T	14: 50,771,234 (GRCm39)	M122L	possibly damaging	Het
Or13a1	T	C	6: 116,471,242 (GRCm39)	I224T	probably damaging	Het
Or5l14	T	C	2: 87,792,379 (GRCm39)	N286D	probably damaging	Het
Or6c69c	T	C	10: 129,910,741 (GRCm39)	I154T	probably damaging	Het
Pappa2	A	T	1: 158,784,858 (GRCm39)	W51R	probably damaging	Het
Pde8a	T	C	7: 80,942,007 (GRCm39)	S149P	probably damaging	Het
Pgap6	A	G	17: 26,339,290 (GRCm39)	T535A	possibly damaging	Het
Phkb	T	A	8: 86,785,968 (GRCm39)	L1052Q	possibly damaging	Het
Pou5f2	T	A	13: 78,173,370 (GRCm39)	L104Q	probably benign	Het
Pramel32	T	A	4: 88,546,269 (GRCm39)	I358F	probably benign	Het
Psme2b	A	T	11: 48,836,576 (GRCm39)	W124R	probably damaging	Het
Ptk2b	G	A	14: 66,400,529 (GRCm39)	S762L	possibly damaging	Het
Ptprs	T	C	17: 56,744,992 (GRCm39)	N248S	probably benign	Het
Rgs22	G	A	15: 36,080,997 (GRCm39)	T705I	probably damaging	Het
Rnf123	T	C	9: 107,945,709 (GRCm39)		probably null	Het
Sel1l2	A	T	2: 140,231,515 (GRCm39)	I13N	probably damaging	Het
Slc39a4	T	C	15: 76,500,793 (GRCm39)	T57A	probably benign	Het
Smpdl3a	T	G	10: 57,685,187 (GRCm39)	V319G	probably damaging	Het
Syt9	T	C	7: 107,035,694 (GRCm39)	L237P	probably damaging	Het
Tbc1d16	G	T	11: 119,044,830 (GRCm39)	A536E	probably damaging	Het
Tcf20	T	C	15: 82,739,777 (GRCm39)	D558G	probably damaging	Het
Tdpoz2	A	T	3: 93,559,453 (GRCm39)	M173K	probably benign	Het
Tek	A	G	4: 94,669,339 (GRCm39)	I113M	probably damaging	Het
Tmem50a	A	T	4: 134,636,980 (GRCm39)	D50E	probably benign	Het
Trappc11	A	T	8: 47,983,862 (GRCm39)	V10E	possibly damaging	Het
Vmn1r172	C	T	7: 23,359,681 (GRCm39)	R189*	probably null	Het
Vmn2r63	A	T	7: 42,578,015 (GRCm39)	D174E	possibly damaging	Het
Zc3h10	A	T	10: 128,380,151 (GRCm39)	M402K	probably damaging	Het
Zfp109	T	C	7: 23,927,588 (GRCm39)	H615R	probably damaging	Het
Zfp982	A	C	4: 147,597,126 (GRCm39)	H161P	probably benign	Het
Zhx1	A	G	15: 57,917,992 (GRCm39)	F85L	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
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'- AGGCTCTCTGGCTTCTTCAGCA -3'
(R):5'- TTCAGAAGTGTCCCGCCTACCTCA -3'

Sequencing Primer
(F):5'- CAGCCAGTTCAGGTATACAATAAG -3'
(R):5'- CTCACACAAAACCAAATGATATACTG -3'

Posted On

2014-04-13