Mutagenetix > Incidental Mutation

Incidental Mutation 'R9163:Dhx15'

695831

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

068975-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R9163 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52307545-52347856 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52342198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 40 (R40H)

Ref Sequence

ENSEMBL: ENSMUSP00000031061 (fasta)

Gene Model

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

AlphaFold

O35286

Predicted Effect

probably damaging
Transcript: ENSMUST00000031061
AA Change: R40H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031061
Gene: ENSMUSG00000029169
AA Change: R40H

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

probably benign
Transcript: ENSMUST00000195922

SMART Domains

Protein: ENSMUSP00000143658
Gene: ENSMUSG00000029169

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

probably benign
Transcript: ENSMUST00000199321
AA Change: R40H

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143069
Gene: ENSMUSG00000029169
AA Change: R40H

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

possibly damaging
Transcript: ENSMUST00000200186
AA Change: R40H

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143381
Gene: ENSMUSG00000029169
AA Change: R40H

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,393,400 (GRCm39)	S351P	possibly damaging	Het
4930558K02Rik	A	G	1: 161,777,174 (GRCm39)	S128P	probably benign	Het
Adam17	C	T	12: 21,401,588 (GRCm39)	V136I	probably benign	Het
Adam19	A	G	11: 46,018,176 (GRCm39)	T413A	probably benign	Het
Adam28	T	C	14: 68,866,531 (GRCm39)	K443E	probably damaging	Het
Adgrv1	T	A	13: 81,567,541 (GRCm39)	T5211S	probably benign	Het
Adnp2	A	T	18: 80,172,200 (GRCm39)	N736K	possibly damaging	Het
Agtpbp1	C	T	13: 59,609,884 (GRCm39)	W1082*	probably null	Het
Ap3b2	T	G	7: 81,113,546 (GRCm39)	M888L	unknown	Het
Arhgap35	C	A	7: 16,295,549 (GRCm39)	R1172L	possibly damaging	Het
Arrdc3	T	A	13: 81,041,506 (GRCm39)	D402E	probably benign	Het
Ccdc14	T	C	16: 34,511,118 (GRCm39)	F31L	possibly damaging	Het
Cd5l	T	G	3: 87,274,932 (GRCm39)	L157R	probably benign	Het
Cdc14a	G	T	3: 116,122,213 (GRCm39)	D251E	possibly damaging	Het
Cfap210	A	T	2: 69,606,510 (GRCm39)	I302K	probably benign	Het
Chmp2a	T	A	7: 12,766,645 (GRCm39)	Q91L	possibly damaging	Het
Col12a1	A	G	9: 79,548,729 (GRCm39)		probably null	Het
Ctdsp1	G	T	1: 74,434,126 (GRCm39)	R201L	possibly damaging	Het
Dnph1	A	G	17: 46,809,860 (GRCm39)	Y134C	probably damaging	Het
Foxo1	T	A	3: 52,253,301 (GRCm39)	V488D	probably benign	Het
Gcn1	C	A	5: 115,742,944 (GRCm39)	N1538K	probably benign	Het
Gldc	T	A	19: 30,111,686 (GRCm39)	E500V	probably benign	Het
Hhip	G	A	8: 80,701,743 (GRCm39)	T597I	probably benign	Het
Hmgn1	A	G	16: 95,928,509 (GRCm39)		probably null	Het
Ifi205	A	T	1: 173,844,988 (GRCm39)	S265T	possibly damaging	Het
Igkv1-131	T	C	6: 67,743,753 (GRCm39)	M2V	probably benign	Het
Irgm2	T	G	11: 58,111,280 (GRCm39)	S324A	probably damaging	Het
Jarid2	C	G	13: 45,064,727 (GRCm39)	D937E	possibly damaging	Het
Jrkl	A	T	9: 13,245,404 (GRCm39)	W86R	probably damaging	Het
Kbtbd3	A	G	9: 4,330,584 (GRCm39)	I319M	probably benign	Het
Klhl7	T	C	5: 24,364,465 (GRCm39)	Y500H	probably damaging	Het
Lats1	C	T	10: 7,578,052 (GRCm39)	A392V	probably benign	Het
Llgl1	G	T	11: 60,600,402 (GRCm39)	A584S	probably benign	Het
Macf1	G	T	4: 123,403,686 (GRCm39)	S560Y	probably damaging	Het
Or4c11	C	T	2: 88,695,795 (GRCm39)	P282L	possibly damaging	Het
Or8c10	T	A	9: 38,279,378 (GRCm39)	C169S	probably damaging	Het
Pde10a	G	A	17: 9,181,791 (GRCm39)	C498Y	possibly damaging	Het
Pde4dip	A	G	3: 97,659,123 (GRCm39)		probably null	Het
Pdhx	G	A	2: 102,852,561 (GRCm39)	P434L	probably damaging	Het
Pdlim3	T	C	8: 46,338,711 (GRCm39)		probably null	Het
Pik3c3	T	C	18: 30,427,483 (GRCm39)		probably null	Het
Prkag1	T	C	15: 98,711,900 (GRCm39)	K242R	possibly damaging	Het
Rap1b	A	G	10: 117,654,391 (GRCm39)	S150P	possibly damaging	Het
Scn4a	A	G	11: 106,217,076 (GRCm39)	S1102P	probably damaging	Het
Scrib	A	G	15: 75,921,108 (GRCm39)	Y1332H	probably damaging	Het
Sim1	A	G	10: 50,772,165 (GRCm39)	E58G	probably benign	Het
Slc13a1	C	T	6: 24,097,578 (GRCm39)		probably null	Het
Slc17a8	A	G	10: 89,425,444 (GRCm39)	V380A	probably damaging	Het
Slc5a4b	G	T	10: 75,917,165 (GRCm39)	Y290*	probably null	Het
Slco4c1	A	G	1: 96,764,633 (GRCm39)	F480L	probably damaging	Het
Srcap	T	C	7: 127,121,162 (GRCm39)	V146A	unknown	Het
Ssc5d	T	A	7: 4,936,432 (GRCm39)	D559E	probably damaging	Het
Sstr5	A	C	17: 25,710,584 (GRCm39)	I215S	probably damaging	Het
Stambpl1	G	A	19: 34,212,634 (GRCm39)	C268Y	probably benign	Het
Stard3nl	C	A	13: 19,560,809 (GRCm39)		probably benign	Het
Sycp3	T	C	10: 88,299,734 (GRCm39)		probably null	Het
Syne2	A	T	12: 76,009,349 (GRCm39)	M2417L	possibly damaging	Het
Tenm4	T	G	7: 96,473,080 (GRCm39)	Y959D	probably damaging	Het
Tmem132d	T	A	5: 127,869,570 (GRCm39)	D588V	possibly damaging	Het
Tnfrsf26	T	C	7: 143,172,130 (GRCm39)	E60G	possibly damaging	Het
Topbp1	A	G	9: 103,205,767 (GRCm39)	R802G	probably benign	Het
Trmu	T	C	15: 85,781,096 (GRCm39)	V360A	probably benign	Het
Tshz2	G	A	2: 169,726,562 (GRCm39)	C386Y	probably damaging	Het
Ttn	A	T	2: 76,700,771 (GRCm39)	D61E		Het
Upf1	T	C	8: 70,792,674 (GRCm39)	T345A	probably benign	Het
Vmn2r23	T	A	6: 123,718,782 (GRCm39)	C712S	probably damaging	Het
Vmn2r44	C	T	7: 8,371,091 (GRCm39)	V652I	probably benign	Het
Wfdc1	T	C	8: 120,393,302 (GRCm39)	V8A	probably benign	Het
Xrn1	A	G	9: 95,880,274 (GRCm39)	Y738C	probably benign	Het
Zfp618	T	G	4: 63,051,511 (GRCm39)	V764G	probably damaging	Het
Znfx1	A	T	2: 166,898,261 (GRCm39)	M221K	probably damaging	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
R5068:Dhx15	UTSW	5	52,327,409 (GRCm39)	missense	possibly damaging	0.59
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
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'- AGGTTGGTGAATGGATTAATGCAC -3'
(R):5'- TGGTTCAGTGGCTATCATGC -3'

Sequencing Primer
(F):5'- TGAATGGATTAATGCACTGTGG -3'
(R):5'- TCAGTGGCTATCATGCTTAAGG -3'

Posted On

2022-02-07