Mutagenetix > Incidental Mutation

Incidental Mutation 'R0959:Dhx37'

81763

Institutional Source

Beutler Lab

Gene Symbol

Dhx37

Ensembl Gene

ENSMUSG00000029480

Gene Name

DEAH-box helicase 37

Synonyms

LOC208144, LOC381671

MMRRC Submission

039088-MU

Accession Numbers

Essential gene?

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

Stock #

R0959 (G1)

Quality Score

124

Status

Not validated

Chromosome

Chromosomal Location

125490922-125511185 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 125500496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 570 (N570T)

Ref Sequence

ENSEMBL: ENSMUSP00000131734 (fasta)

Gene Model

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

AlphaFold

Q6NZL1

Predicted Effect

probably benign
Transcript: ENSMUST00000169485
AA Change: N570T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131734
Gene: ENSMUSG00000029480
AA Change: N570T

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: 99.6%
3x: 98.7%
10x: 95.8%
20x: 89.6%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,808,434 (GRCm39)	V919A	probably damaging	Het
Adam28	G	A	14: 68,845,387 (GRCm39)	P761L	possibly damaging	Het
Aoc1l3	T	A	6: 48,965,566 (GRCm39)	C525S	possibly damaging	Het
Aplf	G	A	6: 87,623,065 (GRCm39)	P338L	probably benign	Het
Arl5b	T	A	2: 15,077,942 (GRCm39)	I89N	probably damaging	Het
Asap2	T	C	12: 21,297,320 (GRCm39)	V596A	probably damaging	Het
Baz1b	T	G	5: 135,273,076 (GRCm39)	F1400C	probably damaging	Het
Ccdc149	A	T	5: 52,542,497 (GRCm39)	L365Q	probably damaging	Het
Ccdc60	A	G	5: 116,318,870 (GRCm39)	S149P	probably damaging	Het
Ces1b	A	G	8: 93,794,775 (GRCm39)	C275R	probably damaging	Het
Creb3	T	C	4: 43,563,509 (GRCm39)	L163P	probably damaging	Het
Epc1	T	C	18: 6,453,657 (GRCm39)	N223D	probably damaging	Het
Gbp5	C	T	3: 142,208,885 (GRCm39)	H143Y	possibly damaging	Het
Gfod1	A	T	13: 43,456,905 (GRCm39)	D23E	probably benign	Het
Gm7361	A	T	5: 26,467,051 (GRCm39)	E223D	possibly damaging	Het
Izumo1	A	G	7: 45,274,415 (GRCm39)	K161E	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Lrp1b	T	C	2: 41,158,366 (GRCm39)	N1617S	possibly damaging	Het
Med13l	A	T	5: 118,892,350 (GRCm39)	E1924D	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtg2	T	G	2: 179,725,221 (GRCm39)	S145A	probably benign	Het
Mug2	G	A	6: 122,062,454 (GRCm39)	S1442N	probably benign	Het
Myo1b	A	T	1: 51,836,246 (GRCm39)	I315N	probably damaging	Het
Naip2	G	A	13: 100,291,386 (GRCm39)	T1184M	probably benign	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nsrp1	G	A	11: 76,937,285 (GRCm39)	R304*	probably null	Het
Or2a56	G	T	6: 42,932,686 (GRCm39)	V85L	probably benign	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Parp4	T	C	14: 56,885,576 (GRCm39)	F1552L	unknown	Het
Pigw	G	A	11: 84,769,033 (GRCm39)	H99Y	probably benign	Het
Ppp6r2	G	A	15: 89,158,379 (GRCm39)	M444I	possibly damaging	Het
Rchy1	A	G	5: 92,105,476 (GRCm39)	F82L	probably damaging	Het
Reln	A	C	5: 22,432,626 (GRCm39)	F125V	probably damaging	Het
Riok1	G	A	13: 38,241,149 (GRCm39)	E435K	probably damaging	Het
Rnf213	A	G	11: 119,343,407 (GRCm39)	R3590G	probably damaging	Het
Scart2	A	G	7: 139,874,704 (GRCm39)	E394G	probably damaging	Het
Scrib	G	C	15: 75,923,310 (GRCm39)	P1249A	probably benign	Het
Shc4	C	T	2: 125,520,607 (GRCm39)		probably null	Het
Slc12a2	T	A	18: 58,037,450 (GRCm39)	I520N	probably damaging	Het
Slc26a5	A	G	5: 22,021,959 (GRCm39)	I484T	probably benign	Het
Slc39a11	G	T	11: 113,354,899 (GRCm39)	T110K	probably benign	Het
Snd1	T	A	6: 28,884,970 (GRCm39)	S774T	probably benign	Het
Spata31d1c	C	T	13: 65,184,129 (GRCm39)	P557L	probably damaging	Het
Tada1	A	G	1: 166,216,198 (GRCm39)	D133G	probably benign	Het
Tg	A	T	15: 66,579,859 (GRCm39)	T1555S	probably damaging	Het
Thra	A	G	11: 98,644,455 (GRCm39)	E15G	possibly damaging	Het
Timd5	A	T	11: 46,427,247 (GRCm39)	R187*	probably null	Het
Ttn	T	A	2: 76,625,440 (GRCm39)	I15128F	probably damaging	Het
Ube2r2	A	G	4: 41,174,066 (GRCm39)	Y68C	probably damaging	Het
Uncx	A	T	5: 139,532,442 (GRCm39)	N169I	probably damaging	Het
Vmn2r100	A	G	17: 19,743,786 (GRCm39)	Y483C	possibly damaging	Het
Xkr4	T	C	1: 3,286,897 (GRCm39)	D431G	probably damaging	Het
Xylb	C	A	9: 119,209,091 (GRCm39)	A311E	possibly damaging	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het
Zbtb39	C	A	10: 127,578,931 (GRCm39)	H502N	probably damaging	Het
Zfp82	A	G	7: 29,755,876 (GRCm39)	L402P	probably damaging	Het
Zpbp2	G	A	11: 98,448,451 (GRCm39)	R256Q	probably benign	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
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
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'- ATGGTGACCCCAGCACTGTCAAAG -3'
(R):5'- TGTCGTACATGGCTTGGTTCACAC -3'

Sequencing Primer
(F):5'- TATTAAGACCTTAGGAGACCCCAGTG -3'
(R):5'- TGGTTCACACCCAGGTTG -3'

Posted On

2013-11-08