Mutagenetix > Incidental Mutation

Incidental Mutation 'R1101:Dhx37'

98081

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

039174-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.489) question?

Stock #

R1101 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125413858-125434121 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125415152 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1128 (Y1128H)

Ref Sequence

ENSEMBL: ENSMUSP00000131734 (fasta)

Gene Model

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

AlphaFold

Q6NZL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000169485
AA Change: Y1128H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131734
Gene: ENSMUSG00000029480
AA Change: Y1128H

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

silent
Transcript: ENSMUST00000196371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196444

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 91.2%

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,411	I249M	possibly damaging	Het
2610021A01Rik	C	A	7: 41,627,359	H829N	probably damaging	Het
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
Abi3bp	G	T	16: 56,606,158	R512L	probably damaging	Het
Acot2	T	G	12: 83,992,850	S378A	probably benign	Het
Akap9	T	C	5: 4,046,205	I2360T	probably benign	Het
Bank1	T	C	3: 136,283,864	D155G	probably benign	Het
Bsn	A	G	9: 108,116,411	V714A	probably damaging	Het
Cdh15	G	A	8: 122,860,846	V170I	possibly damaging	Het
Clcn2	G	A	16: 20,703,595	T787I	probably damaging	Het
Dapk1	A	G	13: 60,716,785	H131R	probably damaging	Het
Dct	T	G	14: 118,036,622	D291A	probably damaging	Het
Dip2c	A	T	13: 9,634,744	I1174F	probably damaging	Het
Eif3l	A	G	15: 79,075,267	Y3C	probably damaging	Het
Enpp5	A	G	17: 44,081,367	N229S	possibly damaging	Het
Fam83b	A	T	9: 76,545,670	H38Q	possibly damaging	Het
Fcamr	T	A	1: 130,814,486		probably null	Het
Hdac2	G	A	10: 36,991,809	V184I	probably damaging	Het
Igf2bp2	A	T	16: 22,162,950	L5Q	probably damaging	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Ireb2	T	A	9: 54,909,702	H951Q	probably benign	Het
Lman1	T	A	18: 65,987,898	M418L	probably benign	Het
Lrrfip2	C	T	9: 111,190,225	R275W	probably damaging	Het
Mast3	T	A	8: 70,786,663	I424F	probably damaging	Het
Mep1a	T	C	17: 43,491,693	D147G	probably benign	Het
Mtr	C	A	13: 12,189,525	E1128D	possibly damaging	Het
Ogfod1	C	A	8: 94,064,304	S534R	probably benign	Het
Olfr1212	A	T	2: 88,958,984	I173F	possibly damaging	Het
Olfr1290	T	C	2: 111,489,442	T239A	probably damaging	Het
Olfr173	A	G	16: 58,797,252	V198A	probably benign	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Pcdh18	T	A	3: 49,753,379	D882V	probably damaging	Het
Pik3cg	C	T	12: 32,195,646	G868S	probably null	Het
Plppr5	T	G	3: 117,662,523	M231R	probably damaging	Het
Polr2a	T	C	11: 69,748,071	T46A	probably benign	Het
Ppp4r3a	C	A	12: 101,051,571	R440L	probably damaging	Het
Serpinb9e	A	T	13: 33,260,088	T364S	probably benign	Het
Sirt3	A	G	7: 140,869,628	V135A	possibly damaging	Het
Supt16	T	C	14: 52,171,439	N826S	probably null	Het
Tbr1	T	C	2: 61,804,739	I11T	probably benign	Het
Trim72	A	G	7: 128,010,247	E407G	possibly damaging	Het
Vps72	C	A	3: 95,119,176	T144K	probably damaging	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
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
R5789:Dhx37	UTSW	5	125421039	missense	possibly damaging	0.55
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
R9177:Dhx37	UTSW	5	125430894	missense	probably benign	0.00
R9294:Dhx37	UTSW	5	125422672	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'- TGTGGAAGACAAACCATGTCTGCTC -3'
(R):5'- CAAGGCTGATTCTCGTGATTCCCTG -3'

Sequencing Primer
(F):5'- AAGAAGGGCACTCCTGGTC -3'
(R):5'- CTGCTGGCTGCATGGAAG -3'

Posted On

2014-01-05