Mutagenetix > Incidental Mutation

Incidental Mutation 'R5560:Dhx34'

436522

Institutional Source

Beutler Lab

Gene Symbol

Dhx34

Ensembl Gene

ENSMUSG00000006019

Gene Name

DExH-box helicase 34

Synonyms

Ddx34, 1200013B07Rik, 1810012L18Rik

MMRRC Submission

043117-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.409) question?

Stock #

R5560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15931145-15956005 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 15952466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 53 (R53L)

Ref Sequence

ENSEMBL: ENSMUSP00000126915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094816] [ENSMUST00000118795] [ENSMUST00000119102] [ENSMUST00000121123] [ENSMUST00000163968]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000094816
AA Change: R53L

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000092410
Gene: ENSMUSG00000006019
AA Change: R53L

Domain	Start	End	E-Value	Type
low complexity region	4	26	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
DEXDc	150	343	7.73e-28	SMART
HELICc	400	498	4.31e-17	SMART
low complexity region	542	553	N/A	INTRINSIC
HA2	558	648	3.35e-21	SMART
Pfam:OB_NTP_bind	687	911	2.6e-24	PFAM
low complexity region	953	971	N/A	INTRINSIC
ZnF_C2H2	1121	1144	7.89e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118795
AA Change: R53L

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112865
Gene: ENSMUSG00000006019
AA Change: R53L

Domain	Start	End	E-Value	Type
low complexity region	4	26	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
DEXDc	150	343	7.73e-28	SMART
HELICc	400	498	4.31e-17	SMART
low complexity region	542	553	N/A	INTRINSIC
HA2	558	648	3.35e-21	SMART
Pfam:OB_NTP_bind	687	911	7.5e-17	PFAM
low complexity region	953	971	N/A	INTRINSIC
ZnF_C2H2	1121	1144	7.89e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119102
AA Change: R53L

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113393
Gene: ENSMUSG00000006019
AA Change: R53L

Domain	Start	End	E-Value	Type
low complexity region	4	26	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
DEXDc	150	343	7.73e-28	SMART
HELICc	400	498	4.31e-17	SMART
low complexity region	542	553	N/A	INTRINSIC
HA2	558	648	3.35e-21	SMART
Pfam:OB_NTP_bind	687	911	7.5e-17	PFAM
low complexity region	953	971	N/A	INTRINSIC
ZnF_C2H2	1121	1144	7.89e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121123
AA Change: R53L

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113673
Gene: ENSMUSG00000006019
AA Change: R53L

Domain	Start	End	E-Value	Type
low complexity region	4	26	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
DEXDc	150	343	7.73e-28	SMART
HELICc	400	498	4.31e-17	SMART
low complexity region	542	553	N/A	INTRINSIC
HA2	558	648	3.35e-21	SMART
Pfam:OB_NTP_bind	687	911	7.5e-17	PFAM
low complexity region	953	971	N/A	INTRINSIC
ZnF_C2H2	1121	1144	7.89e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163968
AA Change: R53L

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126915
Gene: ENSMUSG00000006019
AA Change: R53L

Domain	Start	End	E-Value	Type
low complexity region	4	26	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
DEXDc	150	343	7.73e-28	SMART
HELICc	400	498	4.31e-17	SMART
low complexity region	542	553	N/A	INTRINSIC
HA2	558	648	3.35e-21	SMART
Pfam:OB_NTP_bind	687	911	6.4e-18	PFAM
low complexity region	953	971	N/A	INTRINSIC
ZnF_C2H2	1121	1144	7.89e0	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adipor1	T	C	1: 134,353,778 (GRCm39)	W188R	possibly damaging	Het
Agrn	T	C	4: 156,262,954 (GRCm39)	D441G	probably damaging	Het
Ankrd55	T	C	13: 112,520,024 (GRCm39)	S570P	probably benign	Het
Ano9	C	G	7: 140,690,395 (GRCm39)	G80R	probably damaging	Het
Arhgef2	T	A	3: 88,541,744 (GRCm39)	V250E	probably damaging	Het
Atp2b2	T	C	6: 113,751,319 (GRCm39)	D583G	possibly damaging	Het
Bcar3	T	A	3: 122,220,224 (GRCm39)	D40E	possibly damaging	Het
Capn12	A	G	7: 28,582,285 (GRCm39)	D133G	probably benign	Het
Ccna1	A	T	3: 54,955,990 (GRCm39)	Y269N	probably damaging	Het
Cct6b	A	T	11: 82,632,239 (GRCm39)	Y250N	probably damaging	Het
Cep112	A	C	11: 108,328,061 (GRCm39)	K98Q	probably damaging	Het
Chst13	T	C	6: 90,295,251 (GRCm39)	D54G	probably damaging	Het
Clstn2	G	T	9: 97,351,872 (GRCm39)	H518N	possibly damaging	Het
Cntnap1	T	A	11: 101,073,261 (GRCm39)	L581M	probably damaging	Het
Cog3	T	A	14: 75,966,833 (GRCm39)	M446L	probably damaging	Het
Dennd2c	T	A	3: 103,068,871 (GRCm39)	I756K	probably damaging	Het
Dennd3	T	G	15: 73,404,744 (GRCm39)	L273R	probably damaging	Het
Dnah9	G	A	11: 65,772,566 (GRCm39)	T3722I	probably benign	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dusp6	A	G	10: 99,102,103 (GRCm39)	Y217C	probably damaging	Het
Dync2i1	T	C	12: 116,181,733 (GRCm39)	S769G	probably damaging	Het
Dyrk1b	G	A	7: 27,883,678 (GRCm39)	R178Q	possibly damaging	Het
Eif4g1	T	A	16: 20,505,645 (GRCm39)	C1009S	probably benign	Het
Frmpd1	A	T	4: 45,243,697 (GRCm39)	T57S	probably damaging	Het
Gask1a	T	C	9: 121,807,289 (GRCm39)	F478L	possibly damaging	Het
Gjc2	A	G	11: 59,068,185 (GRCm39)	V99A	possibly damaging	Het
Gm9955	A	T	18: 24,842,149 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,831,101 (GRCm39)	I734V	possibly damaging	Het
H1f2	A	G	13: 23,923,390 (GRCm39)	S187G	probably benign	Het
Herc1	A	T	9: 66,358,401 (GRCm39)	H2494L	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmgcs1	A	G	13: 120,161,351 (GRCm39)		probably null	Het
Invs	A	T	4: 48,416,084 (GRCm39)	T655S	probably benign	Het
Ipo9	G	A	1: 135,329,983 (GRCm39)	L486F	probably damaging	Het
Katnip	T	C	7: 125,453,733 (GRCm39)	V1150A	probably benign	Het
Kcnj6	A	T	16: 94,633,824 (GRCm39)	L96M	probably benign	Het
Lfng	A	G	5: 140,600,022 (GRCm39)	D354G	possibly damaging	Het
Lgsn	T	C	1: 31,235,953 (GRCm39)	L139P	probably damaging	Het
Madd	C	A	2: 90,993,890 (GRCm39)	V923L	probably damaging	Het
Mical1	A	T	10: 41,354,961 (GRCm39)	I157F	probably damaging	Het
Mis18bp1	T	C	12: 65,199,590 (GRCm39)	N154S	possibly damaging	Het
Mrps14	A	G	1: 160,023,105 (GRCm39)	K6R	probably benign	Het
Mug1	T	A	6: 121,838,032 (GRCm39)	C421S	probably damaging	Het
Myo18b	A	G	5: 113,016,161 (GRCm39)	I696T	probably damaging	Het
Naf1	T	C	8: 67,336,197 (GRCm39)	Y375H	probably damaging	Het
Nsf	T	A	11: 103,754,081 (GRCm39)	E485V	possibly damaging	Het
Nup188	A	G	2: 30,199,897 (GRCm39)	D307G	probably damaging	Het
Ocel1	C	A	8: 71,825,122 (GRCm39)	P108T	probably damaging	Het
Oip5	A	G	2: 119,443,540 (GRCm39)	S177P	probably damaging	Het
Omg	A	G	11: 79,392,584 (GRCm39)	W425R	possibly damaging	Het
Or1ad8	A	C	11: 50,898,350 (GRCm39)	I184L	possibly damaging	Het
Or1l4	A	G	2: 37,091,942 (GRCm39)	I230V	probably benign	Het
Or5an10	G	A	19: 12,276,008 (GRCm39)	Q163*	probably null	Het
Or8g26	A	C	9: 39,095,480 (GRCm39)	E2A	probably benign	Het
Pikfyve	A	G	1: 65,292,566 (GRCm39)	Y1339C	probably damaging	Het
Polr3e	A	G	7: 120,522,172 (GRCm39)	D6G	possibly damaging	Het
Pou4f3	C	A	18: 42,528,480 (GRCm39)	P141Q	probably benign	Het
Rcsd1	T	A	1: 165,483,070 (GRCm39)	N337I	possibly damaging	Het
Rhoj	C	T	12: 75,438,486 (GRCm39)	P91S	probably damaging	Het
Rnf10	A	G	5: 115,388,057 (GRCm39)	F367S	probably damaging	Het
Rnft1	A	T	11: 86,384,022 (GRCm39)	R307S	probably benign	Het
Ryr3	A	T	2: 112,585,222 (GRCm39)	F2788Y	probably damaging	Het
Scgb1c1	A	G	7: 140,426,137 (GRCm39)	K78E	possibly damaging	Het
Scn5a	G	T	9: 119,389,352 (GRCm39)	A123E	probably damaging	Het
Setd2	T	A	9: 110,378,907 (GRCm39)	Y623*	probably null	Het
Slc49a3	A	T	5: 108,596,729 (GRCm39)	M1K	probably null	Het
Spmap2l	A	G	5: 77,164,333 (GRCm39)	D112G	possibly damaging	Het
Tbl2	C	T	5: 135,186,445 (GRCm39)	Q216*	probably null	Het
Tnc	A	G	4: 63,926,946 (GRCm39)	I860T	probably damaging	Het
Trafd1	T	C	5: 121,511,366 (GRCm39)	K484R	possibly damaging	Het
Trank1	T	C	9: 111,219,635 (GRCm39)	V2124A	probably damaging	Het
Trpm4	A	T	7: 44,959,756 (GRCm39)	W713R	probably damaging	Het
Uap1l1	T	C	2: 25,252,688 (GRCm39)	T451A	probably benign	Het
Uba6	A	T	5: 86,279,119 (GRCm39)	C668S	probably damaging	Het
Ubxn11	T	C	4: 133,853,935 (GRCm39)	F441S	probably damaging	Het
Vmn1r22	C	T	6: 57,877,723 (GRCm39)	V85M	probably damaging	Het
Vmn2r72	T	A	7: 85,401,150 (GRCm39)	I90L	probably damaging	Het
Zfp330	T	C	8: 83,491,585 (GRCm39)	E196G	probably benign	Het
Zfp746	A	G	6: 48,059,108 (GRCm39)	V167A	possibly damaging	Het
Zfp994	T	C	17: 22,420,694 (GRCm39)	E85G	possibly damaging	Het

Other mutations in Dhx34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Dhx34	APN	7	15,933,751 (GRCm39)	missense	probably damaging	1.00
IGL01090:Dhx34	APN	7	15,950,181 (GRCm39)	missense	probably damaging	1.00
IGL01397:Dhx34	APN	7	15,944,468 (GRCm39)	missense	probably damaging	1.00
IGL01637:Dhx34	APN	7	15,939,398 (GRCm39)	missense	probably damaging	1.00
IGL01684:Dhx34	APN	7	15,937,204 (GRCm39)	missense	probably damaging	1.00
IGL02147:Dhx34	APN	7	15,937,928 (GRCm39)	missense	probably benign	0.01
IGL02223:Dhx34	APN	7	15,932,584 (GRCm39)	missense	probably benign	0.10
R0255:Dhx34	UTSW	7	15,939,917 (GRCm39)	missense	probably benign	0.32
R0514:Dhx34	UTSW	7	15,944,462 (GRCm39)	missense	probably benign	0.02
R0919:Dhx34	UTSW	7	15,935,883 (GRCm39)	missense	probably damaging	0.99
R1075:Dhx34	UTSW	7	15,952,274 (GRCm39)	missense	probably benign	0.06
R1077:Dhx34	UTSW	7	15,952,293 (GRCm39)	missense	probably damaging	0.97
R4197:Dhx34	UTSW	7	15,937,651 (GRCm39)	missense	probably damaging	1.00
R4721:Dhx34	UTSW	7	15,931,307 (GRCm39)	missense	possibly damaging	0.83
R4856:Dhx34	UTSW	7	15,949,367 (GRCm39)	missense	possibly damaging	0.94
R4868:Dhx34	UTSW	7	15,933,727 (GRCm39)	missense	probably benign	0.10
R5134:Dhx34	UTSW	7	15,952,175 (GRCm39)	missense	possibly damaging	0.57
R5180:Dhx34	UTSW	7	15,939,405 (GRCm39)	nonsense	probably null
R5588:Dhx34	UTSW	7	15,932,825 (GRCm39)	missense	probably damaging	0.99
R6981:Dhx34	UTSW	7	15,949,255 (GRCm39)	missense	possibly damaging	0.87
R6994:Dhx34	UTSW	7	15,937,799 (GRCm39)	missense	probably benign	0.04
R7226:Dhx34	UTSW	7	15,932,801 (GRCm39)	missense	probably damaging	1.00
R7262:Dhx34	UTSW	7	15,937,623 (GRCm39)	missense	probably benign	0.01
R7288:Dhx34	UTSW	7	15,949,361 (GRCm39)	missense	probably benign	0.08
R7381:Dhx34	UTSW	7	15,949,373 (GRCm39)	missense	probably benign	0.00
R7469:Dhx34	UTSW	7	15,950,364 (GRCm39)	missense	probably benign	0.00
R7709:Dhx34	UTSW	7	15,946,789 (GRCm39)	missense	possibly damaging	0.55
R7862:Dhx34	UTSW	7	15,944,448 (GRCm39)	missense	probably damaging	0.98
R8495:Dhx34	UTSW	7	15,952,472 (GRCm39)	missense	probably benign	0.01
R8885:Dhx34	UTSW	7	15,950,376 (GRCm39)	missense	probably damaging	1.00
R9246:Dhx34	UTSW	7	15,937,162 (GRCm39)	missense	probably damaging	1.00
X0020:Dhx34	UTSW	7	15,939,917 (GRCm39)	missense	probably benign	0.32
Z1176:Dhx34	UTSW	7	15,952,569 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAGTGAAGCAATGCACGGC -3'
(R):5'- ATAGGAACCATGCCTCCTCC -3'

Sequencing Primer
(F):5'- AACTCGGACACTCTCTCGG -3'
(R):5'- TGCCTCCTCCCAGGACAAG -3'

Posted On

2016-10-24