Mutagenetix > Incidental Mutations

Incidental Mutation 'R5789:Dhx37'

448201

Institutional Source

Beutler Lab

Gene Symbol

Dhx37

Ensembl Gene

ENSMUSG00000029480

Gene Name

DEAH (Asp-Glu-Ala-His) box polypeptide 37

Synonyms

LOC381671, LOC208144

MMRRC Submission

043383-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5789 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125413858-125434121 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 125421039 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 702 (I702S)

Ref Sequence

ENSEMBL: ENSMUSP00000131734 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169485
AA Change: I702S

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131734
Gene: ENSMUSG00000029480
AA Change: I702S

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

noncoding transcript
Transcript: ENSMUST00000196444

Predicted Effect

probably benign
Transcript: ENSMUST00000198746

Meta Mutation Damage Score

0.7878

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

97% (61/63)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	T	A	4: 35,226,112		probably benign	Het
Abcb11	A	G	2: 69,245,764	F1200S	probably damaging	Het
Ahnak	A	T	19: 9,002,321	D323V	probably benign	Het
Aloxe3	T	C	11: 69,126,439	Y13H	probably damaging	Het
Aqp1	A	G	6: 55,336,761	I91V	probably benign	Het
Carmil1	A	G	13: 24,121,848	S318P	probably damaging	Het
Cdan1	A	G	2: 120,729,535	F383L	probably benign	Het
Col6a2	T	A	10: 76,604,389	E606V	probably damaging	Het
Col6a5	T	C	9: 105,864,608	T2371A	possibly damaging	Het
Cops3	T	C	11: 59,830,280		probably benign	Het
Coq7	G	T	7: 118,529,706	H35Q	possibly damaging	Het
Cp	T	A	3: 19,957,290	F3I	probably benign	Het
D630003M21Rik	C	T	2: 158,216,814	E389K	possibly damaging	Het
Dclre1c	A	T	2: 3,437,956	Q51L	probably damaging	Het
Dnah3	G	T	7: 119,943,599	A3530D	possibly damaging	Het
Dnajc13	T	C	9: 104,214,188	R635G	probably damaging	Het
Dnhd1	A	G	7: 105,705,010	S3066G	possibly damaging	Het
Doc2b	T	A	11: 75,786,115	H144L	probably damaging	Het
Eif2b3	T	A	4: 117,028,495	I78N	probably damaging	Het
Enpp1	A	T	10: 24,647,239	H767Q	probably benign	Het
Fam180a	C	A	6: 35,313,526	*174L	probably null	Het
Gabra1	A	T	11: 42,182,915		probably benign	Het
Gfral	C	T	9: 76,197,046	R228Q	probably benign	Het
Gm16551	T	A	9: 74,849,253		noncoding transcript	Het
Ifi213	C	A	1: 173,568,794		probably benign	Het
Inpp4a	T	C	1: 37,372,329	V358A	possibly damaging	Het
Kmt2a	T	C	9: 44,819,904		probably benign	Het
Mrgprb13	A	T	7: 48,312,198		noncoding transcript	Het
Narfl	T	C	17: 25,781,203	C303R	probably benign	Het
Nckap5	A	G	1: 126,027,702	F371S	probably damaging	Het
Nudcd1	G	A	15: 44,388,483	Q428*	probably null	Het
Pcdhgc5	C	A	18: 37,821,506	P611Q	probably damaging	Het
Plekhb1	A	T	7: 100,645,586	Y193*	probably null	Het
Prrt1	T	C	17: 34,631,957		probably null	Het
Ptpn12	G	A	5: 20,989,015	T753I	possibly damaging	Het
Samsn1	T	C	16: 75,876,448	D180G	probably damaging	Het
Sh2d2a	T	A	3: 87,849,513		probably benign	Het
Skiv2l2	A	T	13: 112,891,285	N680K	probably benign	Het
Slc12a2	T	A	18: 57,912,019		probably null	Het
Socs3	T	A	11: 117,967,782	Q150L	probably benign	Het
Supt6	A	G	11: 78,233,586	V23A	unknown	Het
Tcf12	T	C	9: 71,885,236	Y119C	probably damaging	Het
Them5	A	G	3: 94,346,601	E210G	probably damaging	Het
Tmem135	A	G	7: 89,196,122	F167S	possibly damaging	Het
Tmem170	A	G	8: 111,866,400	V134A	possibly damaging	Het
Trbv20	A	G	6: 41,188,791	Y50C	probably damaging	Het
Uroc1	A	G	6: 90,344,197	M252V	probably damaging	Het
Wasf1	G	A	10: 40,926,574	R75Q	probably damaging	Het
Xpnpep3	T	A	15: 81,415,864		probably benign	Het
Yars	C	T	4: 129,196,897	T78M	probably damaging	Het
Zdhhc16	T	A	19: 41,938,133	H98Q	probably damaging	Het
Zfp90	T	C	8: 106,423,973	L106P	probably benign	Het
Zscan22	T	G	7: 12,903,926	S82A	probably benign	Het

Other mutations in Dhx37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Dhx37	APN	5	125419088	missense	possibly damaging	0.84
IGL02010:Dhx37	APN	5	125418713	missense	possibly damaging	0.58
IGL02412:Dhx37	APN	5	125431628	missense	probably damaging	0.98
IGL02484:Dhx37	APN	5	125419337	missense	possibly damaging	0.89
IGL02986:Dhx37	APN	5	125419315	missense	probably damaging	1.00
FR4304:Dhx37	UTSW	5	125427530	unclassified	probably benign
R0010:Dhx37	UTSW	5	125431616	missense	probably benign	0.02
R0019:Dhx37	UTSW	5	125430034	missense	probably benign	0.36
R0485:Dhx37	UTSW	5	125422231	missense	probably benign	0.00
R0959:Dhx37	UTSW	5	125423432	missense	probably benign
R1101:Dhx37	UTSW	5	125415152	missense	probably damaging	1.00
R1132:Dhx37	UTSW	5	125421039	missense	probably damaging	0.96
R1309:Dhx37	UTSW	5	125417438	nonsense	probably null
R1777:Dhx37	UTSW	5	125429931	missense	probably benign
R2001:Dhx37	UTSW	5	125427464	missense	probably damaging	1.00
R2116:Dhx37	UTSW	5	125421102	missense	probably damaging	0.98
R3826:Dhx37	UTSW	5	125431613	missense	probably benign	0.04
R3829:Dhx37	UTSW	5	125431613	missense	probably benign	0.04
R3830:Dhx37	UTSW	5	125431613	missense	probably benign	0.04
R4007:Dhx37	UTSW	5	125424931	splice site	probably benign
R5058:Dhx37	UTSW	5	125422231	missense	probably benign	0.00
R5158:Dhx37	UTSW	5	125415152	missense	probably damaging	1.00
R5436:Dhx37	UTSW	5	125429803	missense	probably benign
R5834:Dhx37	UTSW	5	125425730	missense	probably damaging	1.00
R6066:Dhx37	UTSW	5	125424666	missense	probably benign	0.18
R6490:Dhx37	UTSW	5	125419132	missense	probably benign	0.00
R6967:Dhx37	UTSW	5	125422167	missense	probably benign	0.07
R7101:Dhx37	UTSW	5	125424942	nonsense	probably null
R8036:Dhx37	UTSW	5	125424675	missense	probably benign
Z1088:Dhx37	UTSW	5	125416591	missense	possibly damaging	0.72
Z1177:Dhx37	UTSW	5	125424980	missense	possibly damaging	0.81
Z1177:Dhx37	UTSW	5	125425472	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCATTAGGGACTGAAGGCCAC -3'
(R):5'- TACAGAGTATATAGTCAGGGTAGCTG -3'

Sequencing Primer
(F):5'- ACCAGGACACCTTCTGATTGG -3'
(R):5'- ACTAACTGCCCTGGTGAGG -3'

Posted On

2016-12-15