Mutagenetix > Incidental Mutation

Incidental Mutation 'R7226:Dhx34'

562155

Institutional Source

Beutler Lab

Gene Symbol

Dhx34

Ensembl Gene

ENSMUSG00000006019

Gene Name

DExH-box helicase 34

Synonyms

Ddx34, 1200013B07Rik, 1810012L18Rik

MMRRC Submission

045298-MU

Accession Numbers

Essential gene?

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

Stock #

R7226 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15931145-15956005 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15932801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1046 (V1046D)

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: V1046D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092410
Gene: ENSMUSG00000006019
AA Change: V1046D

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: V1046D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112865
Gene: ENSMUSG00000006019
AA Change: V1046D

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: V1046D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113393
Gene: ENSMUSG00000006019
AA Change: V1046D

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: V1046D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113673
Gene: ENSMUSG00000006019
AA Change: V1046D

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: V1046D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126915
Gene: ENSMUSG00000006019
AA Change: V1046D

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025B11Rik	C	T	15: 77,443,189 (GRCm39)	V17I	unknown	Het
Acad8	T	A	9: 26,889,726 (GRCm39)	K323*	probably null	Het
Adam18	A	T	8: 25,137,824 (GRCm39)	C339S	probably damaging	Het
Anxa7	A	G	14: 20,510,263 (GRCm39)	F396L	probably damaging	Het
Ap2m1	T	A	16: 20,358,201 (GRCm39)	V73D	probably damaging	Het
Asic2	A	T	11: 80,862,340 (GRCm39)	I270N	probably damaging	Het
Atrn	T	G	2: 130,828,664 (GRCm39)	C1070G	probably damaging	Het
Bag6	A	G	17: 35,361,921 (GRCm39)	N517S	unknown	Het
Bhmt1b	A	G	18: 87,775,590 (GRCm39)	D371G	possibly damaging	Het
Bltp3b	A	T	10: 89,644,503 (GRCm39)	Q1181L	probably benign	Het
Cavin1	A	C	11: 100,861,284 (GRCm39)	D3E	probably benign	Het
Cc2d2b	T	C	19: 40,779,751 (GRCm39)	L571P	unknown	Het
Ccbe1	A	T	18: 66,216,199 (GRCm39)	C175S	probably damaging	Het
Cd19	A	G	7: 126,013,995 (GRCm39)	L5P	unknown	Het
Cd46	A	G	1: 194,724,314 (GRCm39)	S362P	possibly damaging	Het
Celf5	A	G	10: 81,303,863 (GRCm39)	S198P	probably damaging	Het
Cep170b	A	G	12: 112,704,359 (GRCm39)	R706G	possibly damaging	Het
Chd3	G	T	11: 69,260,037 (GRCm39)	R61S	unknown	Het
Cpsf6	A	C	10: 117,197,727 (GRCm39)	W253G	unknown	Het
Cyp27a1	G	A	1: 74,776,507 (GRCm39)	G481D	probably damaging	Het
Ddr1	C	T	17: 36,002,039 (GRCm39)	D218N	possibly damaging	Het
Dhx9	A	T	1: 153,341,423 (GRCm39)	D608E	probably benign	Het
Dnajc6	C	A	4: 101,496,569 (GRCm39)	A912E	probably damaging	Het
Ehmt1	T	C	2: 24,694,794 (GRCm39)	D1051G	probably damaging	Het
Fam217b	C	A	2: 178,062,996 (GRCm39)	A320E	probably benign	Het
Farsa	T	A	8: 85,590,689 (GRCm39)	I169N	probably benign	Het
Fbn2	A	G	18: 58,170,142 (GRCm39)	C2210R	probably damaging	Het
Fbxo3	T	A	2: 103,880,642 (GRCm39)	S251T	probably benign	Het
Fer1l6	C	T	15: 58,462,384 (GRCm39)	T813I	probably benign	Het
Ftl1-ps1	A	T	13: 74,555,114 (GRCm39)	E131V	probably damaging	Het
Gins3	T	A	8: 96,364,499 (GRCm39)	I83N	probably damaging	Het
Gja3	T	C	14: 57,273,350 (GRCm39)	T341A	probably benign	Het
Gja5	A	G	3: 96,958,174 (GRCm39)	Y77C	probably damaging	Het
Gm7247	A	G	14: 51,602,808 (GRCm39)	K48R	probably damaging	Het
Gsx2	C	A	5: 75,236,621 (GRCm39)	S67*	probably null	Het
H2-Q5	T	A	17: 35,616,089 (GRCm39)	L217Q		Het
Impg2	T	A	16: 56,087,467 (GRCm39)	C1095*	probably null	Het
Itga7	G	T	10: 128,776,801 (GRCm39)	W222L	probably damaging	Het
Kdm2b	T	A	5: 123,059,512 (GRCm39)	D530V	possibly damaging	Het
Klhdc8a	A	T	1: 132,230,344 (GRCm39)	D153V	probably damaging	Het
Lin28a	C	T	4: 133,733,619 (GRCm39)	G143S	probably damaging	Het
Memo1	A	G	17: 74,509,338 (GRCm39)	L227S	probably damaging	Het
Mettl27	T	A	5: 134,964,657 (GRCm39)	V138E	probably damaging	Het
Mov10	G	T	3: 104,708,328 (GRCm39)	L474I	probably damaging	Het
Nat10	T	C	2: 103,557,098 (GRCm39)	N852S	probably benign	Het
Nfkbie	T	C	17: 45,870,153 (GRCm39)	V166A	possibly damaging	Het
Nktr	T	C	9: 121,575,599 (GRCm39)	M369T	probably damaging	Het
Nlrp9a	A	T	7: 26,258,149 (GRCm39)	N589I	probably benign	Het
Nrn1	G	A	13: 36,914,577 (GRCm39)	R8C	probably benign	Het
Nrsn1	A	G	13: 25,437,451 (GRCm39)	I159T	probably damaging	Het
Or1e29	A	G	11: 73,667,503 (GRCm39)	S217P	possibly damaging	Het
Or2h15	C	T	17: 38,441,324 (GRCm39)	G253D	probably benign	Het
Or5p61	A	T	7: 107,758,164 (GRCm39)	D305E	probably benign	Het
Or6c88	G	A	10: 129,406,584 (GRCm39)	G20D	probably benign	Het
Osbp	T	A	19: 11,956,031 (GRCm39)	D385E	probably benign	Het
Pan3	T	A	5: 147,463,802 (GRCm39)	N547K	probably damaging	Het
Pip4p2	T	A	4: 14,892,464 (GRCm39)	D109E	probably damaging	Het
Pum1	C	A	4: 130,499,292 (GRCm39)	T1036K	probably damaging	Het
Rad54l2	C	A	9: 106,590,671 (GRCm39)	R485L	probably damaging	Het
Rps26	A	T	10: 128,461,087 (GRCm39)	F101I	unknown	Het
Sdsl	T	C	5: 120,598,702 (GRCm39)	N138S	probably benign	Het
Slc28a2b	C	A	2: 122,353,013 (GRCm39)	R453S	probably benign	Het
Slc39a6	A	T	18: 24,717,084 (GRCm39)	H649Q	probably damaging	Het
Snip1	T	A	4: 124,965,273 (GRCm39)	F226Y	probably benign	Het
Srrd	T	C	5: 112,485,322 (GRCm39)	T334A	unknown	Het
St14	C	T	9: 31,011,448 (GRCm39)	D448N	possibly damaging	Het
Tmem270	T	A	5: 134,930,538 (GRCm39)	Q241L	probably benign	Het
Tubb4b	T	C	2: 25,114,180 (GRCm39)	D41G	probably benign	Het
Usf3	T	C	16: 44,040,368 (GRCm39)	M1616T	possibly damaging	Het
Vmn2r95	A	T	17: 18,672,245 (GRCm39)	I733F	possibly damaging	Het
Zfp976	A	T	7: 42,262,684 (GRCm39)	C385*	probably null	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
R5560:Dhx34	UTSW	7	15,952,466 (GRCm39)	missense	probably benign	0.34
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
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'- TCTACGACAGAGGAAACGTGTC -3'
(R):5'- TGGCTTAGGCAAAGTCCAAGG -3'

Sequencing Primer
(F):5'- AGGAAACGTGTCAGGACCCC -3'
(R):5'- TCCAAGGGAGGGCTTTAGGC -3'

Posted On

2019-06-26