Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02010:Dhx37'

183306

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhx37

Ensembl Gene

ENSMUSG00000029480

Gene Name

DEAH-box helicase 37

Synonyms

LOC208144, LOC381671

Accession Numbers

Essential gene?

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

Stock #

IGL02010

Quality Score

Status

Chromosome

Chromosomal Location

125490922-125511185 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 125495777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 835 (T835P)

Ref Sequence

ENSEMBL: ENSMUSP00000131734 (fasta)

Gene Model

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

AlphaFold

Q6NZL1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169485
AA Change: T835P

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131734
Gene: ENSMUSG00000029480
AA Change: T835P

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

probably benign
Transcript: ENSMUST00000196371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196444

Predicted Effect

probably benign
Transcript: ENSMUST00000198746

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,110,442 (GRCm39)	D569G	probably benign	Het
Abhd17b	C	T	19: 21,661,485 (GRCm39)	T224I	probably benign	Het
Atf6b	T	A	17: 34,873,626 (GRCm39)	S695R	probably benign	Het
Cdh6	A	C	15: 13,034,276 (GRCm39)		probably benign	Het
Cep290	G	T	10: 100,344,569 (GRCm39)	C462F	probably benign	Het
Cep290	T	C	10: 100,397,207 (GRCm39)	S2156P	probably benign	Het
Cfap20dc	A	T	14: 8,578,384 (GRCm38)	H119Q	possibly damaging	Het
Cit	T	C	5: 116,014,006 (GRCm39)	F240L	probably damaging	Het
Col1a2	T	A	6: 4,512,416 (GRCm39)		probably null	Het
Ctcf	T	A	8: 106,391,597 (GRCm39)	H297Q	probably damaging	Het
Dhx29	T	C	13: 113,103,168 (GRCm39)		probably null	Het
Enc1	C	T	13: 97,381,588 (GRCm39)	L33F	possibly damaging	Het
Epyc	T	A	10: 97,485,563 (GRCm39)	M1K	probably null	Het
F10	T	C	8: 13,098,292 (GRCm39)	I165T	probably damaging	Het
Fam124a	T	C	14: 62,824,728 (GRCm39)	L74P	probably damaging	Het
Fam234b	A	G	6: 135,186,405 (GRCm39)	S138G	probably benign	Het
Fam81a	T	C	9: 70,006,419 (GRCm39)	K198E	probably benign	Het
Fbn2	T	C	18: 58,170,794 (GRCm39)	Y2199C	probably damaging	Het
Fign	A	C	2: 63,810,744 (GRCm39)	S175R	probably damaging	Het
Grik1	T	C	16: 87,848,396 (GRCm39)	N124S	possibly damaging	Het
Hdac9	G	T	12: 34,481,944 (GRCm39)	L175M	probably damaging	Het
Hephl1	A	C	9: 15,001,852 (GRCm39)	Y163*	probably null	Het
Hes1	G	A	16: 29,886,128 (GRCm39)	G244D	probably damaging	Het
Hexb	A	G	13: 97,313,353 (GRCm39)	L501P	probably benign	Het
Igkv5-43	T	C	6: 69,752,936 (GRCm39)	I49V	probably benign	Het
Ipo5	T	C	14: 121,170,789 (GRCm39)	S491P	probably benign	Het
Jakmip2	C	T	18: 43,692,158 (GRCm39)		probably null	Het
Lrfn5	A	G	12: 61,886,469 (GRCm39)	T86A	probably damaging	Het
Lrp1b	T	C	2: 41,358,954 (GRCm39)	T640A	probably damaging	Het
M6pr	G	T	6: 122,292,085 (GRCm39)	R139L	possibly damaging	Het
Myl9	A	T	2: 156,620,579 (GRCm39)	N39Y	probably damaging	Het
Nlrp3	A	G	11: 59,440,361 (GRCm39)	D646G	probably benign	Het
Nlrp5	A	T	7: 23,116,797 (GRCm39)	M174L	probably benign	Het
Nnmt	T	A	9: 48,503,331 (GRCm39)	I232F	probably damaging	Het
Nrg1	T	C	8: 32,408,171 (GRCm39)	T21A	probably benign	Het
Or5t15	C	T	2: 86,681,541 (GRCm39)	C167Y	possibly damaging	Het
Or6c65	A	G	10: 129,604,136 (GRCm39)	Y257C	probably benign	Het
Pcare	T	A	17: 72,056,459 (GRCm39)	T1073S	probably benign	Het
Pcdh7	T	G	5: 58,286,597 (GRCm39)	N1224K	probably benign	Het
Pde4a	T	C	9: 21,114,850 (GRCm39)		probably null	Het
Pfkfb3	T	C	2: 11,488,805 (GRCm39)	T320A	probably benign	Het
Plekhm2	T	C	4: 141,364,730 (GRCm39)		probably benign	Het
Rabgap1l	C	T	1: 160,299,641 (GRCm39)	R584H	probably damaging	Het
Rnf157	T	A	11: 116,287,052 (GRCm39)	N57I	probably damaging	Het
Rtf1	G	A	2: 119,531,747 (GRCm39)		probably null	Het
Sap130	C	A	18: 31,782,655 (GRCm39)	R189S	probably damaging	Het
Slc34a1	T	G	13: 24,003,025 (GRCm39)	V225G	probably benign	Het
Smg1	T	C	7: 117,785,369 (GRCm39)		probably benign	Het
Tecta	G	A	9: 42,248,489 (GRCm39)	T1971I	probably damaging	Het
Tlcd5	A	T	9: 43,022,859 (GRCm39)	V165E	probably damaging	Het
Tmem263	T	A	10: 84,950,274 (GRCm39)	S22T	probably benign	Het
Tnrc18	A	T	5: 142,773,049 (GRCm39)	F410L	unknown	Het
Ttc27	T	G	17: 75,087,906 (GRCm39)		probably benign	Het
Vmn1r45	A	T	6: 89,910,668 (GRCm39)	C101S	probably damaging	Het
Wdr17	T	C	8: 55,112,738 (GRCm39)	K781E	probably damaging	Het
Xkr6	C	T	14: 64,056,653 (GRCm39)	T188M	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
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
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

Posted On

2014-05-07