Mutagenetix > Incidental Mutation

Incidental Mutation 'R8885:Dhx34'

677236

Institutional Source

Beutler Lab

Gene Symbol

Dhx34

Ensembl Gene

ENSMUSG00000006019

Gene Name

DEAH (Asp-Glu-Ala-His) box polypeptide 34

Synonyms

1200013B07Rik, Ddx34, 1810012L18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

R8885 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16197147-16222037 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16216451 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 264 (R264H)

Ref Sequence

ENSEMBL: ENSMUSP00000092410 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000094816
AA Change: R264H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092410
Gene: ENSMUSG00000006019
AA Change: R264H

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 damaging
Transcript: ENSMUST00000118795
AA Change: R264H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112865
Gene: ENSMUSG00000006019
AA Change: R264H

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 damaging
Transcript: ENSMUST00000119102
AA Change: R264H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113393
Gene: ENSMUSG00000006019
AA Change: R264H

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 damaging
Transcript: ENSMUST00000121123
AA Change: R264H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113673
Gene: ENSMUSG00000006019
AA Change: R264H

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 damaging
Transcript: ENSMUST00000163968
AA Change: R264H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126915
Gene: ENSMUSG00000006019
AA Change: R264H

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (104/104)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,323,406	S977C	possibly damaging	Het
4921507P07Rik	A	T	6: 50,574,048	Y474N	possibly damaging	Het
Abca8a	T	A	11: 110,069,479	D646V	probably damaging	Het
Adss	T	A	1: 177,769,960	Y378F	probably damaging	Het
Akap6	C	T	12: 53,141,536	A1911V	probably benign	Het
Alg2	T	C	4: 47,474,159	Y43C	probably benign	Het
Alk	A	C	17: 71,895,763	V1159G	probably damaging	Het
Alx3	A	T	3: 107,600,694	Q173L	probably damaging	Het
Aqp9	A	G	9: 71,162,311		probably benign	Het
Atf7ip	C	A	6: 136,587,143	L787I	probably benign	Het
Bbs9	A	T	9: 22,678,938	E657D	possibly damaging	Het
Bean1	G	A	8: 104,182,120		probably null	Het
Cactin	G	T	10: 81,321,248	R13L	unknown	Het
Ccdc178	T	C	18: 22,067,664	E412G	probably damaging	Het
Ccdc30	A	G	4: 119,324,562	I583T	probably damaging	Het
Ccl8	T	C	11: 82,116,107	Y49H	probably damaging	Het
Clptm1	T	A	7: 19,639,007	K199N	probably damaging	Het
Cnbp	G	A	6: 87,845,664	S39L	probably benign	Het
Cnih3	T	A	1: 181,409,872		probably benign	Het
Cnksr3	A	T	10: 7,140,201		probably benign	Het
Cntn1	A	G	15: 92,261,499	I512V	probably benign	Het
Col20a1	A	G	2: 180,998,503		probably benign	Het
Col28a1	A	T	6: 8,127,360		probably benign	Het
Col6a2	A	T	10: 76,614,907	Y63*	probably null	Het
Copa	T	G	1: 172,097,745	F190V	probably damaging	Het
Crisp4	A	C	1: 18,136,924		probably benign	Het
Cxcl2	C	T	5: 90,904,226	Q64*	probably null	Het
Cxcr5	T	C	9: 44,514,252	D36G	probably benign	Het
Cyp20a1	T	A	1: 60,372,606	V271E	possibly damaging	Het
D430041D05Rik	T	C	2: 104,241,193	Y570C	probably damaging	Het
Ddi1	T	G	9: 6,266,198	D57A	probably benign	Het
Ddx11	T	A	17: 66,143,465	S492T	probably benign	Het
Dnah3	T	A	7: 119,962,152	I328F		Het
Dnah5	C	T	15: 28,327,740	R2087C	probably damaging	Het
Dnah8	C	G	17: 30,708,312	S1314W	possibly damaging	Het
Dock2	T	C	11: 34,310,396	N982D	probably benign	Het
Dync1h1	A	G	12: 110,616,738	D423G	probably damaging	Het
Ect2l	A	C	10: 18,172,835	L213V	probably damaging	Het
Fam210a	T	C	18: 68,276,144	I32V	probably benign	Het
Fancg	A	G	4: 43,007,266		probably null	Het
Fastkd5	T	C	2: 130,615,191	E493G	probably benign	Het
Fbxo38	T	C	18: 62,526,201	M342V	probably damaging	Het
Flnc	A	C	6: 29,455,411	K2020Q	probably damaging	Het
Flt4	A	G	11: 49,636,333		probably benign	Het
Frmd4b	G	T	6: 97,412,519	P129T	probably benign	Het
Galnt13	C	A	2: 54,880,126	A310E	probably benign	Het
Gm4884	T	A	7: 41,044,684	Y692*	probably null	Het
Gm6309	T	A	5: 146,168,293	D270V	probably damaging	Het
Grip1	G	T	10: 119,454,287		probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kdf1	G	T	4: 133,528,194	C74F	probably damaging	Het
Kdm1b	T	A	13: 47,053,708	C169*	probably null	Het
Kmt2c	G	T	5: 25,315,079	T2011K	probably benign	Het
Lama1	G	A	17: 67,773,784	G1269E		Het
Lamb3	C	T	1: 193,334,874	A791V	probably benign	Het
Leng9	G	T	7: 4,148,775	R301S	possibly damaging	Het
Lgr6	C	A	1: 134,987,604	V746L	probably benign	Het
Lrp5	T	A	19: 3,652,170	S216C	probably damaging	Het
Ltn1	T	C	16: 87,381,545	T1599A	probably damaging	Het
Map2k1	G	T	9: 64,187,324	N345K	probably damaging	Het
Map4k1	T	A	7: 28,989,437	D304E	probably benign	Het
Mcpt1	C	T	14: 56,019,065	T86I	probably damaging	Het
Mcpt9	T	C	14: 56,027,696	K116R	probably benign	Het
Morc2a	G	T	11: 3,678,584	A346S	probably damaging	Het
Mybpc3	A	T	2: 91,123,892	Q370L	probably benign	Het
Nars2	T	C	7: 97,002,888	S229P	probably damaging	Het
Ndufa10	A	T	1: 92,469,971	Y118N	probably damaging	Het
Nek11	A	T	9: 105,295,372		probably null	Het
Notch4	T	C	17: 34,584,496	V1463A	possibly damaging	Het
Nrcam	T	C	12: 44,564,125	I536T	probably benign	Het
Olfr771	T	C	10: 129,160,465	Y173C	probably benign	Het
Pbld1	A	T	10: 63,076,447	T285S	probably benign	Het
Pcdhgb8	A	T	18: 37,763,124	T416S	possibly damaging	Het
Plekhg6	T	C	6: 125,374,560	D242G	probably damaging	Het
Pnmt	T	A	11: 98,387,754	V182D	probably benign	Het
Ppp1r13b	G	T	12: 111,833,437	N758K	probably damaging	Het
Prex2	A	G	1: 11,170,575		probably benign	Het
Prss3	A	T	6: 41,377,578	L7Q	probably damaging	Het
Prss43	T	A	9: 110,830,978	L370Q	probably damaging	Het
Rac1	A	T	5: 143,508,130	V104E	probably damaging	Het
Rgs9	T	C	11: 109,275,623	Y107C	probably damaging	Het
Rnase13	C	T	14: 51,922,483	W66*	probably null	Het
Rrp1b	G	A	17: 32,051,714	V216I	possibly damaging	Het
Serinc1	A	G	10: 57,519,768	S309P	probably benign	Het
Serpine3	T	A	14: 62,665,138	L66Q	probably damaging	Het
Smc5	C	T	19: 23,213,870	V924M	probably damaging	Het
Srgap1	A	T	10: 121,925,640		probably benign	Het
Stab1	T	C	14: 31,161,814	E262G	possibly damaging	Het
Ston2	A	G	12: 91,639,724	*896R	probably null	Het
Syt6	A	G	3: 103,625,625	M442V	probably benign	Het
Tap1	T	C	17: 34,189,562		probably null	Het
Tbx3	A	C	5: 119,680,559	S420R	probably benign	Het
Tespa1	A	T	10: 130,362,447	Q446L	probably benign	Het
Tifab	T	C	13: 56,176,295	M112V	probably benign	Het
Trpv5	A	T	6: 41,653,258	S633T	possibly damaging	Het
Ttn	T	C	2: 76,853,892	K838R	unknown	Het
Ttn	A	T	2: 76,914,466	V5413E	probably damaging	Het
Tub	C	A	7: 109,029,586	N415K		Het
Vmn2r3	T	C	3: 64,274,962	M439V	probably benign	Het
Vps13c	A	G	9: 67,943,454	D2231G	probably benign	Het
Wbp1	C	T	6: 83,119,932	C118Y	unknown	Het
Zdhhc20	C	T	14: 57,890,214		probably benign	Het
Zfp217	T	A	2: 170,114,471	N869I	probably benign	Het
Zfp677	T	C	17: 21,398,088	I469T	probably benign	Het
Zmym2	T	A	14: 56,947,872		probably benign	Het
Zzef1	T	G	11: 72,796,576	S94A	probably benign	Het

Other mutations in Dhx34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Dhx34	APN	7	16199826	missense	probably damaging	1.00
IGL01090:Dhx34	APN	7	16216256	missense	probably damaging	1.00
IGL01397:Dhx34	APN	7	16210543	missense	probably damaging	1.00
IGL01637:Dhx34	APN	7	16205473	missense	probably damaging	1.00
IGL01684:Dhx34	APN	7	16203279	missense	probably damaging	1.00
IGL02147:Dhx34	APN	7	16204003	missense	probably benign	0.01
IGL02223:Dhx34	APN	7	16198659	missense	probably benign	0.10
R0255:Dhx34	UTSW	7	16205992	missense	probably benign	0.32
R0514:Dhx34	UTSW	7	16210537	missense	probably benign	0.02
R0919:Dhx34	UTSW	7	16201958	missense	probably damaging	0.99
R1075:Dhx34	UTSW	7	16218349	missense	probably benign	0.06
R1077:Dhx34	UTSW	7	16218368	missense	probably damaging	0.97
R4197:Dhx34	UTSW	7	16203726	missense	probably damaging	1.00
R4721:Dhx34	UTSW	7	16197382	missense	possibly damaging	0.83
R4856:Dhx34	UTSW	7	16215442	missense	possibly damaging	0.94
R4868:Dhx34	UTSW	7	16199802	missense	probably benign	0.10
R5134:Dhx34	UTSW	7	16218250	missense	possibly damaging	0.57
R5180:Dhx34	UTSW	7	16205480	nonsense	probably null
R5560:Dhx34	UTSW	7	16218541	missense	probably benign	0.34
R5588:Dhx34	UTSW	7	16198900	missense	probably damaging	0.99
R6981:Dhx34	UTSW	7	16215330	missense	possibly damaging	0.87
R6994:Dhx34	UTSW	7	16203874	missense	probably benign	0.04
R7226:Dhx34	UTSW	7	16198876	missense	probably damaging	1.00
R7262:Dhx34	UTSW	7	16203698	missense	probably benign	0.01
R7288:Dhx34	UTSW	7	16215436	missense	probably benign	0.08
R7381:Dhx34	UTSW	7	16215448	missense	probably benign	0.00
R7469:Dhx34	UTSW	7	16216439	missense	probably benign	0.00
R7709:Dhx34	UTSW	7	16212864	missense	possibly damaging	0.55
R7862:Dhx34	UTSW	7	16210523	missense	probably damaging	0.98
R8495:Dhx34	UTSW	7	16218547	missense	probably benign	0.01
R9246:Dhx34	UTSW	7	16203237	missense	probably damaging	1.00
X0020:Dhx34	UTSW	7	16205992	missense	probably benign	0.32
Z1176:Dhx34	UTSW	7	16218644	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TACTTCAACATGAGGGGCTGTC -3'
(R):5'- AGACTCCCATGTAGGACAGG -3'

Sequencing Primer
(F):5'- AGCAGTGCTCACCGTGATG -3'
(R):5'- AGGGAGGAGCTCTGGTGC -3'

Posted On

2021-08-02