Mutagenetix > Incidental Mutation

Incidental Mutation 'R6967:Dhx37'

542044

Institutional Source

Beutler Lab

Gene Symbol

Dhx37

Ensembl Gene

ENSMUSG00000029480

Gene Name

DEAH-box helicase 37

Synonyms

LOC208144, LOC381671

MMRRC Submission

045077-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.456) question?

Stock #

R6967 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125490922-125511185 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125499231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 659 (D659G)

Ref Sequence

ENSEMBL: ENSMUSP00000131734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169485]

AlphaFold

Q6NZL1

Predicted Effect

probably benign
Transcript: ENSMUST00000169485
AA Change: D659G

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131734
Gene: ENSMUSG00000029480
AA Change: D659G

Domain	Start	End	E-Value	Type
low complexity region	51	66	N/A	INTRINSIC
low complexity region	156	173	N/A	INTRINSIC
low complexity region	199	231	N/A	INTRINSIC
DEXDc	246	438	3.55e-27	SMART
AAA	263	463	9.3e-3	SMART
HELICc	554	669	1.56e-14	SMART
Blast:DEXDc	678	717	1e-10	BLAST
HA2	729	852	3.32e-25	SMART
Pfam:OB_NTP_bind	886	1004	1.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198746

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

97% (56/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DEAD box protein. 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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	A	G	7: 103,708,212 (GRCm39)	I199T	probably benign	Het
Adam23	T	G	1: 63,602,495 (GRCm39)		probably null	Het
Adamts8	C	T	9: 30,865,787 (GRCm39)	T445I	probably benign	Het
Ahi1	T	C	10: 20,864,524 (GRCm39)	V752A	probably damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Bicra	T	C	7: 15,706,130 (GRCm39)	E1437G	probably damaging	Het
Cdc42ep4	C	T	11: 113,619,998 (GRCm39)	S131N	possibly damaging	Het
Ces1f	G	A	8: 93,994,625 (GRCm39)	P262L	probably benign	Het
Chrna2	A	T	14: 66,388,398 (GRCm39)		probably null	Het
Cspg4	G	A	9: 56,797,420 (GRCm39)	V1295M	possibly damaging	Het
D5Ertd579e	T	C	5: 36,773,100 (GRCm39)	T432A	probably benign	Het
Dach1	A	T	14: 98,140,633 (GRCm39)	S456R	probably damaging	Het
Dscaml1	T	C	9: 45,585,821 (GRCm39)	V586A	probably damaging	Het
Efhb	G	T	17: 53,770,196 (GRCm39)	L38I	probably benign	Het
Fbxw10	T	C	11: 62,738,429 (GRCm39)	S108P	possibly damaging	Het
Fmnl2	A	G	2: 52,987,344 (GRCm39)	N313S	possibly damaging	Het
Gga3	T	C	11: 115,482,102 (GRCm39)	E172G	probably damaging	Het
Ggta1	A	G	2: 35,292,734 (GRCm39)	V191A	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Hcn4	C	T	9: 58,731,228 (GRCm39)	T145M	unknown	Het
Kirrel3	T	C	9: 34,946,202 (GRCm39)	S654P	probably damaging	Het
Klrb1	A	T	6: 128,687,486 (GRCm39)		probably null	Het
Krt15	T	A	11: 100,025,339 (GRCm39)	D166V	probably damaging	Het
Lipk	T	A	19: 34,017,794 (GRCm39)	Y277*	probably null	Het
Ly6g	A	C	15: 75,030,398 (GRCm39)	N49T	possibly damaging	Het
Ms4a4c	A	T	19: 11,392,191 (GRCm39)	Q4L	probably benign	Het
Nfya	A	C	17: 48,699,932 (GRCm39)		probably benign	Het
Nub1	T	C	5: 24,913,709 (GRCm39)	V530A	probably benign	Het
Ocln	A	T	13: 100,675,796 (GRCm39)	Y232*	probably null	Het
Or10ag59	A	G	2: 87,405,857 (GRCm39)	N143S	possibly damaging	Het
Or2r2	A	G	6: 42,463,947 (GRCm39)	F60S	probably damaging	Het
Or4d2b	C	T	11: 87,780,324 (GRCm39)	V133I	probably benign	Het
Or5b114-ps1	A	G	19: 13,352,815 (GRCm39)	H163R	unknown	Het
Otogl	G	A	10: 107,649,911 (GRCm39)	A1148V	probably benign	Het
Paqr5	C	T	9: 61,880,113 (GRCm39)	W46*	probably null	Het
Psd2	C	A	18: 36,113,385 (GRCm39)	L286M	probably damaging	Het
Ptpn4	A	T	1: 119,612,311 (GRCm39)	Y27*	probably null	Het
Ripk2	A	G	4: 16,158,275 (GRCm39)		probably null	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Sbk2	C	T	7: 4,967,146 (GRCm39)		probably null	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Sspo	A	C	6: 48,466,728 (GRCm39)	D4072A	probably benign	Het
St6galnac3	T	C	3: 152,912,345 (GRCm39)	Y214C	probably damaging	Het
Sugp1	T	A	8: 70,513,202 (GRCm39)	D256E	possibly damaging	Het
Sugt1	A	G	14: 79,834,847 (GRCm39)	Y90C	probably benign	Het
Taok2	A	G	7: 126,469,564 (GRCm39)	I1088T	probably damaging	Het
Tasor2	A	T	13: 3,624,819 (GRCm39)	D1710E	probably benign	Het
Tmc7	T	A	7: 118,146,901 (GRCm39)	T459S	probably benign	Het
Tmed11	T	C	5: 108,926,780 (GRCm39)	Y164C	probably damaging	Het
Tmem275	A	G	4: 115,755,491 (GRCm39)	T97A	unknown	Het
Tmem63b	T	C	17: 45,977,558 (GRCm39)	E356G	probably benign	Het
Ttc13	T	C	8: 125,415,357 (GRCm39)	I261V	probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn1r73	A	T	7: 11,490,544 (GRCm39)	K121*	probably null	Het
Zc3h12d	A	T	10: 7,715,644 (GRCm39)	S16C	probably damaging	Het
Zfp292	A	T	4: 34,807,812 (GRCm39)	M1744K	probably damaging	Het

Other mutations in Dhx37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Dhx37	APN	5	125,496,152 (GRCm39)	missense	possibly damaging	0.84
IGL02010:Dhx37	APN	5	125,495,777 (GRCm39)	missense	possibly damaging	0.58
IGL02412:Dhx37	APN	5	125,508,692 (GRCm39)	missense	probably damaging	0.98
IGL02484:Dhx37	APN	5	125,496,401 (GRCm39)	missense	possibly damaging	0.89
IGL02986:Dhx37	APN	5	125,496,379 (GRCm39)	missense	probably damaging	1.00
FR4304:Dhx37	UTSW	5	125,504,594 (GRCm39)	unclassified	probably benign
R0010:Dhx37	UTSW	5	125,508,680 (GRCm39)	missense	probably benign	0.02
R0019:Dhx37	UTSW	5	125,507,098 (GRCm39)	missense	probably benign	0.36
R0485:Dhx37	UTSW	5	125,499,295 (GRCm39)	missense	probably benign	0.00
R0959:Dhx37	UTSW	5	125,500,496 (GRCm39)	missense	probably benign
R1101:Dhx37	UTSW	5	125,492,216 (GRCm39)	missense	probably damaging	1.00
R1132:Dhx37	UTSW	5	125,498,103 (GRCm39)	missense	probably damaging	0.96
R1309:Dhx37	UTSW	5	125,494,502 (GRCm39)	nonsense	probably null
R1777:Dhx37	UTSW	5	125,506,995 (GRCm39)	missense	probably benign
R2001:Dhx37	UTSW	5	125,504,528 (GRCm39)	missense	probably damaging	1.00
R2116:Dhx37	UTSW	5	125,498,166 (GRCm39)	missense	probably damaging	0.98
R3826:Dhx37	UTSW	5	125,508,677 (GRCm39)	missense	probably benign	0.04
R3829:Dhx37	UTSW	5	125,508,677 (GRCm39)	missense	probably benign	0.04
R3830:Dhx37	UTSW	5	125,508,677 (GRCm39)	missense	probably benign	0.04
R4007:Dhx37	UTSW	5	125,501,995 (GRCm39)	splice site	probably benign
R5058:Dhx37	UTSW	5	125,499,295 (GRCm39)	missense	probably benign	0.00
R5158:Dhx37	UTSW	5	125,492,216 (GRCm39)	missense	probably damaging	1.00
R5436:Dhx37	UTSW	5	125,506,867 (GRCm39)	missense	probably benign
R5789:Dhx37	UTSW	5	125,498,103 (GRCm39)	missense	possibly damaging	0.55
R5834:Dhx37	UTSW	5	125,502,794 (GRCm39)	missense	probably damaging	1.00
R6066:Dhx37	UTSW	5	125,501,730 (GRCm39)	missense	probably benign	0.18
R6490:Dhx37	UTSW	5	125,496,196 (GRCm39)	missense	probably benign	0.00
R7101:Dhx37	UTSW	5	125,502,006 (GRCm39)	nonsense	probably null
R8036:Dhx37	UTSW	5	125,501,739 (GRCm39)	missense	probably benign
R9177:Dhx37	UTSW	5	125,507,958 (GRCm39)	missense	probably benign	0.00
R9294:Dhx37	UTSW	5	125,499,736 (GRCm39)	missense	probably benign
Z1088:Dhx37	UTSW	5	125,493,655 (GRCm39)	missense	possibly damaging	0.72
Z1177:Dhx37	UTSW	5	125,502,536 (GRCm39)	missense	probably benign	0.01
Z1177:Dhx37	UTSW	5	125,502,044 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- AGGACAACCTTTGGATCAGC -3'
(R):5'- ACTTCCCAGGTCTTCAAACC -3'

Sequencing Primer
(F):5'- GACAACCTTTGGATCAGCAGTTG -3'
(R):5'- GGTCTTCAAACCTCCTCCCGAG -3'

Posted On

2018-11-28