Mutagenetix > Incidental Mutation

Incidental Mutation 'R2116:Dhx37'

233135

Institutional Source

Beutler Lab

Gene Symbol

Dhx37

Ensembl Gene

ENSMUSG00000029480

Gene Name

DEAH-box helicase 37

Synonyms

LOC208144, LOC381671

MMRRC Submission

040120-MU

Accession Numbers

Essential gene?

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

Stock #

R2116 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125490922-125511185 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125498166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 681 (V681A)

Ref Sequence

ENSEMBL: ENSMUSP00000131734 (fasta)

Gene Model

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

AlphaFold

Q6NZL1

Predicted Effect

probably damaging
Transcript: ENSMUST00000169485
AA Change: V681A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131734
Gene: ENSMUSG00000029480
AA Change: V681A

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	G	15: 94,253,243 (GRCm39)	C377R	probably damaging	Het
Adgrv1	T	C	13: 81,677,132 (GRCm39)	K1180E	probably benign	Het
Ankle1	A	G	8: 71,860,562 (GRCm39)	T340A	probably benign	Het
Armc2	A	T	10: 41,839,663 (GRCm39)	L434Q	probably damaging	Het
Ash1l	C	T	3: 88,890,571 (GRCm39)	L817F	probably benign	Het
Atm	C	T	9: 53,412,269 (GRCm39)	E960K	probably benign	Het
Bend5	G	T	4: 111,272,436 (GRCm39)	R22L	probably benign	Het
Cacng6	C	T	7: 3,479,020 (GRCm39)	T133I	probably damaging	Het
Cep120	G	A	18: 53,873,208 (GRCm39)	T41I	probably damaging	Het
Ciz1	T	C	2: 32,257,477 (GRCm39)	L174P	probably damaging	Het
Cmah	G	A	13: 24,612,880 (GRCm39)	D26N	probably benign	Het
Cnot1	A	C	8: 96,452,781 (GRCm39)	D2098E	probably damaging	Het
Cnot10	A	C	9: 114,455,504 (GRCm39)	S207R	probably damaging	Het
Col14a1	A	G	15: 55,271,160 (GRCm39)	T638A	unknown	Het
Coro1a	T	C	7: 126,301,194 (GRCm39)	E102G	probably damaging	Het
Ddx27	A	C	2: 166,869,684 (GRCm39)	D373A	probably benign	Het
Defb38	A	T	8: 19,073,483 (GRCm39)	Y63*	probably null	Het
Dmxl1	T	A	18: 50,011,884 (GRCm39)	L1347H	probably damaging	Het
Dnmt3l	C	A	10: 77,899,130 (GRCm39)	L110I	probably damaging	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gfus	A	G	15: 75,797,991 (GRCm39)	F223S	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm12790	G	A	4: 101,824,848 (GRCm39)	T140I	possibly damaging	Het
Golga3	A	T	5: 110,335,261 (GRCm39)	M192L	probably damaging	Het
H2-T22	A	T	17: 36,349,949 (GRCm39)		probably null	Het
Hectd2	C	A	19: 36,591,824 (GRCm39)	T675K	probably damaging	Het
Hinfp	T	C	9: 44,210,912 (GRCm39)	N116S	probably damaging	Het
Hoatz	A	G	9: 51,012,384 (GRCm39)	S79P	possibly damaging	Het
Hs6st3	T	A	14: 120,106,699 (GRCm39)	L369Q	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ipo7	T	A	7: 109,650,325 (GRCm39)	Y792N	probably damaging	Het
Jak1	A	T	4: 101,036,872 (GRCm39)	I256N	probably damaging	Het
Kcnd2	T	A	6: 21,216,431 (GRCm39)	L45Q	probably damaging	Het
Klhl3	A	T	13: 58,166,805 (GRCm39)	V342E	probably damaging	Het
Krt28	A	C	11: 99,255,943 (GRCm39)	S439A	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lrch1	G	A	14: 75,022,971 (GRCm39)	P634L	probably damaging	Het
Lrp1	C	T	10: 127,412,362 (GRCm39)	W1314*	probably null	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Lyst	A	G	13: 13,810,286 (GRCm39)	E652G	probably damaging	Het
Mageb3	A	G	2: 121,785,033 (GRCm39)	V223A	probably damaging	Het
Map1b	G	T	13: 99,567,152 (GRCm39)	S1856R	unknown	Het
Mecom	T	A	3: 30,019,607 (GRCm39)	Q759L	probably damaging	Het
Mfsd6	T	A	1: 52,700,134 (GRCm39)	R671S	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mta2	T	C	19: 8,920,880 (GRCm39)	I27T	probably damaging	Het
Ndufab1	A	G	7: 121,700,987 (GRCm39)	L20P	probably benign	Het
Nfatc2ip	T	A	7: 125,984,280 (GRCm39)	Y371F	probably damaging	Het
Nhlrc1	A	C	13: 47,167,661 (GRCm39)	S199A	probably benign	Het
Nipa1	G	T	7: 55,635,273 (GRCm39)	N113K	possibly damaging	Het
Nlgn1	T	A	3: 26,187,414 (GRCm39)	N157I	probably damaging	Het
Nlrp1a	T	A	11: 71,005,326 (GRCm39)	K630*	probably null	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Nr1i3	T	A	1: 171,046,163 (GRCm39)	L181Q	probably damaging	Het
Nrxn1	A	T	17: 91,011,705 (GRCm39)	I308K	probably damaging	Het
Nup50l	A	T	6: 96,141,841 (GRCm39)	V401E	probably damaging	Het
Or14a256	T	C	7: 86,265,286 (GRCm39)	D189G	probably benign	Het
Or52z15	T	C	7: 103,332,519 (GRCm39)	I188T	probably damaging	Het
Or5al7	A	T	2: 85,993,073 (GRCm39)	Y73*	probably null	Het
Or8g50	T	A	9: 39,648,600 (GRCm39)	M163K	probably damaging	Het
Osgin2	G	A	4: 16,008,648 (GRCm39)	T51M	probably damaging	Het
Pkd1l2	T	A	8: 117,757,461 (GRCm39)	T1526S	possibly damaging	Het
Pkhd1l1	G	T	15: 44,432,878 (GRCm39)	A3378S	probably damaging	Het
Plg	A	T	17: 12,603,364 (GRCm39)	D90V	probably damaging	Het
Plppr3	A	T	10: 79,701,572 (GRCm39)	D423E	probably benign	Het
Prpf8	T	C	11: 75,378,547 (GRCm39)	V66A	possibly damaging	Het
Psg19	A	T	7: 18,528,180 (GRCm39)	Y188N	probably damaging	Het
Ptgs1	C	A	2: 36,127,708 (GRCm39)	S89*	probably null	Het
Ptx3	T	A	3: 66,132,187 (GRCm39)	I236N	probably damaging	Het
Pygm	A	G	19: 6,436,438 (GRCm39)	N100S	probably damaging	Het
Reps1	A	G	10: 18,000,668 (GRCm39)	E760G	probably damaging	Het
Rgs7	T	A	1: 174,918,639 (GRCm39)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,693,295 (GRCm39)	M629L	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Sctr	A	T	1: 119,959,312 (GRCm39)	D70V	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Spty2d1	C	T	7: 46,645,933 (GRCm39)	G570D	probably damaging	Het
Stx1b	T	C	7: 127,410,077 (GRCm39)	E153G	probably damaging	Het
Synm	G	A	7: 67,383,343 (GRCm39)	R1440W	probably benign	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tgfb1i1	G	A	7: 127,851,977 (GRCm39)	R353H	probably damaging	Het
Thbs3	T	C	3: 89,126,699 (GRCm39)	F271S	probably damaging	Het
Tlr5	T	C	1: 182,803,194 (GRCm39)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Tmem221	T	C	8: 72,010,472 (GRCm39)	Y133C	probably damaging	Het
Tmem229b-ps	A	G	10: 53,351,552 (GRCm39)		noncoding transcript	Het
Tnxb	T	C	17: 34,891,201 (GRCm39)	C515R	probably damaging	Het
Trp53rka	T	A	2: 165,333,415 (GRCm39)	N158I	probably damaging	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Usp31	C	T	7: 121,247,919 (GRCm39)	V1175M	probably benign	Het
Veph1	G	T	3: 65,964,610 (GRCm39)	N806K	probably benign	Het
Vmn1r223	G	T	13: 23,433,832 (GRCm39)	C142F	probably damaging	Het
Vmn2r80	A	T	10: 79,030,558 (GRCm39)	S795C	probably benign	Het
Wdr41	A	G	13: 95,151,537 (GRCm39)		probably null	Het
Zfp617	A	T	8: 72,686,009 (GRCm39)	H113L	probably benign	Het
Zfp715	T	A	7: 42,947,370 (GRCm39)	R863S	possibly 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
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
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'- ACACCTTCTGATTGGCGGTC -3'
(R):5'- ATCCGTGTTAGCTATGCCAC -3'

Sequencing Primer
(F):5'- AGACCACTCCTTCCCCGG -3'
(R):5'- AATAGCTCTGTTGCTGTTCTTCCAG -3'

Posted On

2014-09-18