Mutagenetix > Incidental Mutation

Incidental Mutation 'R5068:Dhx15'

388424

Institutional Source

Beutler Lab

Gene Symbol

Dhx15

Ensembl Gene

ENSMUSG00000029169

Gene Name

DEAH-box helicase 15

Synonyms

mDEAH9, HRH2, DBP1, Ddx15, DEAH (Asp-Glu-Ala-His) box polypeptide 15

MMRRC Submission

042658-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R5068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52307545-52347856 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 52327409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 102 (I102L)

Ref Sequence

ENSEMBL: ENSMUSP00000143658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031061] [ENSMUST00000195922] [ENSMUST00000199321] [ENSMUST00000200186]

AlphaFold

O35286

Predicted Effect

probably benign
Transcript: ENSMUST00000031061
AA Change: I312L

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031061
Gene: ENSMUSG00000029169
AA Change: I312L

Domain	Start	End	E-Value	Type
low complexity region	23	60	N/A	INTRINSIC
low complexity region	79	110	N/A	INTRINSIC
DEXDc	135	322	4.11e-32	SMART
AAA	152	326	1.07e-2	SMART
HELICc	363	477	1.06e-16	SMART
HA2	538	628	2.76e-31	SMART
Pfam:OB_NTP_bind	662	765	3.1e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000195922
AA Change: I102L

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143658
Gene: ENSMUSG00000029169
AA Change: I102L

Domain	Start	End	E-Value	Type
SCOP:d1jpna2	20	149	7e-17	SMART
Blast:AAA	24	186	4e-68	BLAST
PDB:3KX2\|A	25	186	4e-65	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197257

Predicted Effect

probably benign
Transcript: ENSMUST00000199321
AA Change: I312L

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143069
Gene: ENSMUSG00000029169
AA Change: I312L

Domain	Start	End	E-Value	Type
low complexity region	23	60	N/A	INTRINSIC
low complexity region	79	110	N/A	INTRINSIC
DEXDc	135	322	4.11e-32	SMART
AAA	152	326	1.07e-2	SMART
HELICc	363	477	1.06e-16	SMART
HA2	538	628	2.76e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200186
AA Change: I312L

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143381
Gene: ENSMUSG00000029169
AA Change: I312L

Domain	Start	End	E-Value	Type
low complexity region	23	60	N/A	INTRINSIC
low complexity region	79	110	N/A	INTRINSIC
DEXDc	135	322	1.7e-34	SMART
AAA	152	326	1.7e-4	SMART
HELICc	363	477	4.3e-19	SMART
HA2	538	608	4.6e-20	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(24) : Gene trapped(24)

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
6030468B19Rik	A	G	11: 117,693,701 (GRCm39)	Y56C	possibly damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Add2	T	A	6: 86,084,440 (GRCm39)	L496Q	probably damaging	Het
Akt1s1	T	C	7: 44,499,432 (GRCm39)		probably null	Het
Als2	G	T	1: 59,250,433 (GRCm39)	P437Q	probably benign	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd17	T	C	5: 90,402,667 (GRCm39)	R1464G	probably damaging	Het
Ankrd24	T	C	10: 81,475,699 (GRCm39)	S121P	possibly damaging	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Bnip3l	T	C	14: 67,237,081 (GRCm39)	E57G	possibly damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cc2d1b	T	C	4: 108,480,661 (GRCm39)	V27A	possibly damaging	Het
Cdc37	T	C	9: 21,061,099 (GRCm39)	T19A	probably damaging	Het
Cep152	T	C	2: 125,413,736 (GRCm39)	I1199V	probably benign	Het
Chd6	G	T	2: 160,808,289 (GRCm39)	L1642I	possibly damaging	Het
Chst13	T	C	6: 90,286,551 (GRCm39)	E137G	possibly damaging	Het
Cnrip1	A	G	11: 17,004,687 (GRCm39)	D79G	probably damaging	Het
Dars2	A	T	1: 160,869,483 (GRCm39)	C589S	probably benign	Het
Dip2a	A	G	10: 76,153,877 (GRCm39)	L151P	possibly damaging	Het
Dlc1	T	C	8: 37,405,184 (GRCm39)	T202A	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dlgap4	T	C	2: 156,549,031 (GRCm39)	F464L	probably benign	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Dthd1	C	A	5: 62,976,059 (GRCm39)	D244E	probably benign	Het
Dtl	A	T	1: 191,300,485 (GRCm39)	D126E	probably damaging	Het
Ell2	A	G	13: 75,911,737 (GRCm39)	N341S	probably benign	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Erbb4	A	T	1: 68,083,061 (GRCm39)		probably null	Het
Erc2	A	T	14: 28,024,900 (GRCm39)	H593L	possibly damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Fyn	A	G	10: 39,402,839 (GRCm39)	K204E	probably damaging	Het
Gm4847	A	T	1: 166,465,953 (GRCm39)	F212Y	possibly damaging	Het
Gpc5	T	C	14: 115,654,676 (GRCm39)	*499R	probably null	Het
Hcn4	T	C	9: 58,767,304 (GRCm39)	L955P	unknown	Het
Hook2	C	A	8: 85,720,028 (GRCm39)	L111I	possibly damaging	Het
Hook3	C	T	8: 26,585,785 (GRCm39)		probably null	Het
Hvcn1	T	C	5: 122,371,544 (GRCm39)	F28S	probably damaging	Het
Igkv6-32	A	G	6: 70,051,267 (GRCm39)	F30L	possibly damaging	Het
Inpp5b	G	A	4: 124,636,442 (GRCm39)		probably null	Het
Itgb2	G	A	10: 77,384,595 (GRCm39)	A239T	probably damaging	Het
Kcnrg	T	C	14: 61,845,266 (GRCm39)	L102P	probably damaging	Het
Kif16b	A	T	2: 142,553,627 (GRCm39)	M1068K	probably benign	Het
Kifc3	T	C	8: 95,836,844 (GRCm39)	R109G	possibly damaging	Het
Klhl28	A	T	12: 65,004,486 (GRCm39)	M9K	probably benign	Het
Kptn	T	C	7: 15,857,027 (GRCm39)	Y172H	probably damaging	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Mrc1	T	A	2: 14,311,327 (GRCm39)	M868K	probably benign	Het
Mterf1a	T	C	5: 3,941,854 (GRCm39)	N5D	probably benign	Het
Muc5b	T	C	7: 141,412,345 (GRCm39)	S1764P	unknown	Het
Myo9b	T	C	8: 71,801,699 (GRCm39)	Y1275H	probably damaging	Het
Nek1	T	C	8: 61,469,330 (GRCm39)	I129T	probably damaging	Het
Net1	G	A	13: 3,936,740 (GRCm39)	A221V	probably benign	Het
Nuak2	A	T	1: 132,259,509 (GRCm39)	D429V	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or52h1	T	A	7: 103,829,448 (GRCm39)	S56C	probably damaging	Het
Or8b42	T	C	9: 38,341,760 (GRCm39)	Y61H	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh7	T	C	5: 57,879,508 (GRCm39)	V1021A	probably damaging	Het
Pclo	G	C	5: 14,729,087 (GRCm39)		probably benign	Het
Pds5a	A	C	5: 65,772,615 (GRCm39)	D1329E	probably damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pias3	A	G	3: 96,611,171 (GRCm39)	K431E	probably damaging	Het
Piwil1	T	C	5: 128,818,678 (GRCm39)	S158P	probably damaging	Het
Plxnc1	A	T	10: 94,635,239 (GRCm39)	I1329N	possibly damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pnpla1	T	A	17: 29,098,397 (GRCm39)		probably null	Het
Prdm10	T	C	9: 31,270,343 (GRCm39)	Y827H	probably damaging	Het
Prss3b	A	C	6: 41,009,370 (GRCm39)	Y155D	probably benign	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rgl3	A	G	9: 21,899,340 (GRCm39)		probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rpp40	T	C	13: 36,082,681 (GRCm39)	N254D	probably benign	Het
Scin	T	A	12: 40,174,699 (GRCm39)	H128L	probably damaging	Het
Sh3bp2	A	T	5: 34,714,311 (GRCm39)	M225L	probably benign	Het
Shisa9	C	A	16: 12,085,412 (GRCm39)	H324Q	possibly damaging	Het
Sipa1l1	A	G	12: 82,484,601 (GRCm39)	D1585G	probably damaging	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slc6a13	T	C	6: 121,310,301 (GRCm39)	L320P	probably damaging	Het
Spats2l	A	G	1: 57,982,380 (GRCm39)	T421A	probably benign	Het
Spryd3	A	T	15: 102,037,046 (GRCm39)	D207E	probably benign	Het
Srrt	T	C	5: 137,294,803 (GRCm39)	N392S	possibly damaging	Het
Stk36	G	T	1: 74,661,504 (GRCm39)	R510S	probably benign	Het
Sucnr1	A	G	3: 59,994,288 (GRCm39)	Y272C	probably damaging	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Tmem131	A	G	1: 36,893,986 (GRCm39)	I139T	probably damaging	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,655,750 (GRCm39)	I661T	probably benign	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Uap1	G	T	1: 169,989,032 (GRCm39)	P130Q	probably damaging	Het
Ube3c	T	C	5: 29,806,352 (GRCm39)		probably null	Het
Umad1	A	T	6: 8,401,157 (GRCm39)		probably null	Het
Usp34	T	C	11: 23,410,665 (GRCm39)	V2705A	possibly damaging	Het
Vps13a	T	C	19: 16,723,422 (GRCm39)	S259G	probably benign	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wdfy3	T	C	5: 102,042,803 (GRCm39)	T1983A	probably benign	Het
Wdr24	T	G	17: 26,044,753 (GRCm39)	F203V	possibly damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	Het
Zfp282	A	C	6: 47,854,637 (GRCm39)	Q11P	probably benign	Het
Zfp750	T	A	11: 121,403,021 (GRCm39)	T576S	probably benign	Het

Other mutations in Dhx15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Dhx15	APN	5	52,324,117 (GRCm39)	missense	probably damaging	1.00
IGL00392:Dhx15	APN	5	52,314,924 (GRCm39)	splice site	probably benign
IGL00484:Dhx15	APN	5	52,324,154 (GRCm39)	missense	probably benign
IGL00691:Dhx15	APN	5	52,327,435 (GRCm39)	missense	probably damaging	1.00
IGL01014:Dhx15	APN	5	52,309,266 (GRCm39)	missense	probably damaging	1.00
IGL02808:Dhx15	APN	5	52,319,041 (GRCm39)	missense	possibly damaging	0.95
IGL03408:Dhx15	APN	5	52,317,654 (GRCm39)	missense	probably damaging	1.00
3-1:Dhx15	UTSW	5	52,324,039 (GRCm39)	splice site	probably benign
PIT4449001:Dhx15	UTSW	5	52,318,300 (GRCm39)	missense	probably damaging	0.98
R0021:Dhx15	UTSW	5	52,314,830 (GRCm39)	missense	probably damaging	0.98
R0133:Dhx15	UTSW	5	52,311,414 (GRCm39)	missense	possibly damaging	0.61
R0281:Dhx15	UTSW	5	52,308,088 (GRCm39)	missense	probably benign	0.10
R0566:Dhx15	UTSW	5	52,328,767 (GRCm39)	missense	probably damaging	1.00
R1827:Dhx15	UTSW	5	52,327,422 (GRCm39)	nonsense	probably null
R1864:Dhx15	UTSW	5	52,342,043 (GRCm39)	missense	possibly damaging	0.53
R2106:Dhx15	UTSW	5	52,327,428 (GRCm39)	missense	probably benign	0.00
R2931:Dhx15	UTSW	5	52,324,074 (GRCm39)	missense	probably benign	0.01
R2932:Dhx15	UTSW	5	52,324,074 (GRCm39)	missense	probably benign	0.01
R3762:Dhx15	UTSW	5	52,324,074 (GRCm39)	missense	probably benign	0.01
R3764:Dhx15	UTSW	5	52,324,074 (GRCm39)	missense	probably benign	0.01
R3948:Dhx15	UTSW	5	52,318,922 (GRCm39)	splice site	probably benign
R4452:Dhx15	UTSW	5	52,324,074 (GRCm39)	missense	probably benign	0.01
R7031:Dhx15	UTSW	5	52,341,931 (GRCm39)	missense	probably benign	0.03
R7431:Dhx15	UTSW	5	52,319,953 (GRCm39)	missense	probably damaging	1.00
R8677:Dhx15	UTSW	5	52,341,886 (GRCm39)	missense	probably benign
R8726:Dhx15	UTSW	5	52,311,568 (GRCm39)	missense	probably benign	0.01
R9163:Dhx15	UTSW	5	52,342,198 (GRCm39)	missense	probably damaging	0.98
R9319:Dhx15	UTSW	5	52,342,193 (GRCm39)	nonsense	probably null
X0017:Dhx15	UTSW	5	52,314,832 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTAGCTAATGGACATTTCTACAC -3'
(R):5'- ATCCCTTACATAGACCTATGCATTG -3'

Sequencing Primer
(F):5'- AAGAAGGTCTCCTTCCTC -3'
(R):5'- GACAAGGTCTCACTATGTAGCTCG -3'

Posted On

2016-06-06