Mutagenetix > Incidental Mutation

Incidental Mutation 'R3826:Dhx37'

275399

Institutional Source

Beutler Lab

Gene Symbol

Dhx37

Ensembl Gene

ENSMUSG00000029480

Gene Name

DEAH-box helicase 37

Synonyms

LOC208144, LOC381671

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.466) question?

Stock #

R3826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125490922-125511185 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125508677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 86 (K86R)

Ref Sequence

ENSEMBL: ENSMUSP00000131734 (fasta)

Gene Model

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

AlphaFold

Q6NZL1

Predicted Effect

probably benign
Transcript: ENSMUST00000169485
AA Change: K86R

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000131734
Gene: ENSMUSG00000029480
AA Change: K86R

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: ENSMUST00000198475

Predicted Effect

probably benign
Transcript: ENSMUST00000198746

Meta Mutation Damage Score

0.1384

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	A	3: 59,843,896 (GRCm39)	S197T	possibly damaging	Het
Actl6b	T	C	5: 137,565,535 (GRCm39)	L377P	probably damaging	Het
Apc	C	A	18: 34,412,388 (GRCm39)	Q236K	possibly damaging	Het
Atn1	G	A	6: 124,723,182 (GRCm39)		probably benign	Het
Ccr3	A	G	9: 123,829,714 (GRCm39)	T350A	possibly damaging	Het
Cdc42bpg	T	C	19: 6,367,675 (GRCm39)	V1015A	probably damaging	Het
Chd2	A	G	7: 73,141,163 (GRCm39)	Y577H	possibly damaging	Het
Col1a2	A	G	6: 4,516,960 (GRCm39)		probably benign	Het
Col4a1	C	A	8: 11,259,650 (GRCm39)	G1341V	probably damaging	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cplane2	C	T	4: 140,945,900 (GRCm39)	R148C	probably damaging	Het
Cx3cl1	A	T	8: 95,503,934 (GRCm39)		probably benign	Het
Dlec1	T	C	9: 118,972,129 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
Fam234a	T	C	17: 26,437,163 (GRCm39)	E172G	probably benign	Het
Ffar2	A	T	7: 30,519,510 (GRCm39)	I10N	possibly damaging	Het
Gas2	T	C	7: 51,586,367 (GRCm39)		probably null	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
Grpel1	T	A	5: 36,626,827 (GRCm39)	N36K	probably benign	Het
Hgfac	C	A	5: 35,205,506 (GRCm39)	D595E	probably damaging	Het
Kcnj10	A	T	1: 172,197,616 (GRCm39)	S377C	probably damaging	Het
Kcnq2	C	T	2: 180,746,693 (GRCm39)	V369I	possibly damaging	Het
Kcnt1	T	C	2: 25,805,880 (GRCm39)		probably null	Het
Lpcat1	T	C	13: 73,637,212 (GRCm39)	I114T	possibly damaging	Het
Mast4	G	T	13: 102,875,319 (GRCm39)	H1350N	probably damaging	Het
Mcts1	T	C	X: 37,691,445 (GRCm39)		probably benign	Het
Muc21	A	G	17: 35,932,504 (GRCm39)		probably benign	Het
Myg1	G	C	15: 102,246,171 (GRCm39)	G349R	probably damaging	Het
Ncor2	T	C	5: 125,195,756 (GRCm39)		probably benign	Het
Or1o4	T	A	17: 37,591,140 (GRCm39)	Y57F	probably damaging	Het
Or5t17	T	A	2: 86,832,388 (GRCm39)	I25K	probably damaging	Het
Or9g4b	C	T	2: 85,616,559 (GRCm39)	R235*	probably null	Het
Panx2	A	G	15: 88,952,664 (GRCm39)	D377G	probably damaging	Het
Pcdhb10	C	A	18: 37,545,470 (GRCm39)	T182N	probably damaging	Het
Pdha2	G	T	3: 140,916,889 (GRCm39)	F206L	possibly damaging	Het
Pgd	T	C	4: 149,250,461 (GRCm39)		probably benign	Het
Pgs1	C	T	11: 117,910,584 (GRCm39)		probably null	Het
Rere	T	C	4: 150,554,785 (GRCm39)	V161A	probably benign	Het
Rgs12	G	A	5: 35,123,359 (GRCm39)	V381M	possibly damaging	Het
Rrm2	G	T	12: 24,758,598 (GRCm39)	A47S	probably benign	Het
Rsph6a	T	C	7: 18,791,539 (GRCm39)	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,833,456 (GRCm39)		probably null	Het
Rubcnl	C	T	14: 75,269,665 (GRCm39)	L108F	possibly damaging	Het
Sap18b	T	C	8: 96,552,185 (GRCm39)	F65S	probably damaging	Het
Scap	A	G	9: 110,210,365 (GRCm39)	M925V	probably benign	Het
Slc7a8	A	G	14: 54,975,029 (GRCm39)	I200T	probably damaging	Het
Srrm3	A	G	5: 135,886,068 (GRCm39)	D336G	probably damaging	Het
Stk11	T	C	10: 79,963,782 (GRCm39)		probably null	Het
Tiam2	C	G	17: 3,557,976 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Trio	T	A	15: 27,833,156 (GRCm39)	K75N	probably damaging	Het
Tspan18	T	C	2: 93,050,453 (GRCm39)	I57V	probably benign	Het
Ube3b	C	A	5: 114,538,012 (GRCm39)	Q368K	probably damaging	Het
Zfhx4	A	T	3: 5,466,269 (GRCm39)	K2142N	probably damaging	Het
Zfp37	T	C	4: 62,110,800 (GRCm39)	N88S	probably benign	Het
Zswim8	C	T	14: 20,761,157 (GRCm39)	R142*	probably null	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
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
R6967:Dhx37	UTSW	5	125,499,231 (GRCm39)	missense	probably benign	0.07
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'- TTTGAAATCAGGCCAGCACAC -3'
(R):5'- AGTGAGACTCTGTTCGTCTTTTCAG -3'

Sequencing Primer
(F):5'- CAATGATGCCACCTGTAGCTAGTG -3'
(R):5'- CGTCTTTTCAGGCAAGGATG -3'

Posted On

2015-04-02