Mutagenetix > Incidental Mutation

Incidental Mutation 'R2183:Dhx57'

237315

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

DExH-box helicase 57

Synonyms

MMRRC Submission

040185-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R2183 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80545733-80597620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80582760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 282 (T282S)

Ref Sequence

ENSEMBL: ENSMUSP00000083742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038166] [ENSMUST00000086555]

AlphaFold

Q6P5D3

Predicted Effect

probably benign
Transcript: ENSMUST00000038166
AA Change: T229S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: T229S

Domain	Start	End	E-Value	Type
low complexity region	6	50	N/A	INTRINSIC
low complexity region	116	125	N/A	INTRINSIC
UBA	129	166	1.04e-3	SMART
ZnF_C3H1	246	272	4.07e-6	SMART
low complexity region	357	368	N/A	INTRINSIC
low complexity region	381	390	N/A	INTRINSIC
low complexity region	423	432	N/A	INTRINSIC
DEXDc	490	678	1.27e-28	SMART
Blast:DEXDc	688	752	2e-28	BLAST
HELICc	810	918	3.22e-16	SMART
HA2	984	1074	1.64e-24	SMART
Pfam:OB_NTP_bind	1113	1262	1.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086555
AA Change: T282S

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: T282S

Domain	Start	End	E-Value	Type
low complexity region	6	50	N/A	INTRINSIC
low complexity region	169	178	N/A	INTRINSIC
UBA	182	219	1.04e-3	SMART
ZnF_C3H1	299	325	4.07e-6	SMART
low complexity region	410	421	N/A	INTRINSIC
low complexity region	434	443	N/A	INTRINSIC
low complexity region	476	485	N/A	INTRINSIC
DEXDc	543	731	1.27e-28	SMART
Blast:DEXDc	741	805	1e-28	BLAST
HELICc	863	971	3.22e-16	SMART
HA2	1037	1127	1.64e-24	SMART
Pfam:OB_NTP_bind	1166	1315	8.5e-25	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf7	T	C	15: 102,454,908 (GRCm39)	T287A	possibly damaging	Het
Atg9b	C	T	5: 24,595,491 (GRCm39)	A263T	probably benign	Het
Cc2d1a	A	T	8: 84,867,028 (GRCm39)	H371Q	probably damaging	Het
Ccdc39	T	C	3: 33,875,581 (GRCm39)	N537S	possibly damaging	Het
Cdc6	A	T	11: 98,799,524 (GRCm39)	K17*	probably null	Het
Cemip2	G	A	19: 21,801,157 (GRCm39)	R758Q	possibly damaging	Het
Cenpk	T	C	13: 104,370,671 (GRCm39)	M64T	probably damaging	Het
Frem1	G	A	4: 82,909,732 (GRCm39)	T757I	probably benign	Het
Gcsh	A	T	8: 117,715,885 (GRCm39)	V66E	probably damaging	Het
Gdpd1	T	C	11: 86,926,102 (GRCm39)	N281S	probably damaging	Het
Hs1bp3	T	C	12: 8,371,610 (GRCm39)	V97A	possibly damaging	Het
Ipo11	T	C	13: 107,061,595 (GRCm39)	T22A	probably benign	Het
Irag1	A	T	7: 110,498,189 (GRCm39)	L402Q	probably damaging	Het
Lama1	A	G	17: 68,098,004 (GRCm39)	N1795D	probably damaging	Het
Larp4	T	C	15: 99,909,778 (GRCm39)	V627A	probably benign	Het
Lrp8	T	C	4: 107,660,462 (GRCm39)	C41R	probably damaging	Het
Mroh2b	T	A	15: 4,947,707 (GRCm39)		probably null	Het
Nebl	T	C	2: 17,409,027 (GRCm39)	D357G	probably damaging	Het
Nrg2	T	C	18: 36,329,804 (GRCm39)	K137R	probably benign	Het
Or14c43	T	A	7: 86,115,594 (GRCm39)	V325E	probably benign	Het
Or1j14	C	T	2: 36,417,723 (GRCm39)	Q100*	probably null	Het
Or5t7	A	T	2: 86,507,380 (GRCm39)	M99K	probably benign	Het
Phc1	C	A	6: 122,300,284 (GRCm39)	V487L	probably damaging	Het
Piezo2	A	G	18: 63,239,345 (GRCm39)	V745A	probably damaging	Het
Proca1	A	T	11: 78,094,975 (GRCm39)	H83L	possibly damaging	Het
Prpf4	G	A	4: 62,330,046 (GRCm39)	V107I	probably damaging	Het
Ptprz1	G	A	6: 23,002,284 (GRCm39)	R1458Q	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rbsn	C	A	6: 92,166,618 (GRCm39)	L675F	probably benign	Het
Recql5	T	C	11: 115,787,613 (GRCm39)	S514G	probably benign	Het
Scai	G	A	2: 38,970,138 (GRCm39)	T542I	probably benign	Het
Sftpa1	G	T	14: 40,854,823 (GRCm39)	D73Y	probably damaging	Het
Sgms2	A	C	3: 131,129,934 (GRCm39)		probably null	Het
Spart	A	G	3: 55,024,554 (GRCm39)	I50V	probably benign	Het
Spata7	A	T	12: 98,603,871 (GRCm39)	K47N	probably damaging	Het
Tbx18	T	A	9: 87,587,789 (GRCm39)	T443S	probably damaging	Het
Tmem130	T	C	5: 144,692,242 (GRCm39)	D54G	possibly damaging	Het
Tnip2	TCTCCT	TCT	5: 34,656,957 (GRCm39)		probably benign	Het
Trp53rkb	G	T	2: 166,635,877 (GRCm39)	V73L	possibly damaging	Het
Wwc2	A	T	8: 48,295,961 (GRCm39)	L1103H	unknown	Het
Yes1	T	A	5: 32,802,370 (GRCm39)	V95E	probably damaging	Het
Zfp971	T	A	2: 177,675,533 (GRCm39)	H377Q	probably damaging	Het
Zzef1	C	T	11: 72,777,544 (GRCm39)	R1792*	probably null	Het

Other mutations in Dhx57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Dhx57	APN	17	80,582,405 (GRCm39)	missense	probably benign	0.00
IGL00811:Dhx57	APN	17	80,560,672 (GRCm39)	missense	probably damaging	1.00
IGL01389:Dhx57	APN	17	80,588,652 (GRCm39)	missense	probably benign	0.28
IGL01468:Dhx57	APN	17	80,563,039 (GRCm39)	nonsense	probably null
IGL01908:Dhx57	APN	17	80,558,872 (GRCm39)	missense	probably damaging	1.00
IGL01965:Dhx57	APN	17	80,576,279 (GRCm39)	missense	probably damaging	1.00
IGL02147:Dhx57	APN	17	80,567,752 (GRCm39)	missense	possibly damaging	0.95
IGL02275:Dhx57	APN	17	80,582,268 (GRCm39)	missense	probably benign	0.13
IGL02349:Dhx57	APN	17	80,563,000 (GRCm39)	missense	probably damaging	1.00
IGL02405:Dhx57	APN	17	80,562,979 (GRCm39)	critical splice donor site	probably null
IGL02588:Dhx57	APN	17	80,576,300 (GRCm39)	missense	probably damaging	1.00
IGL02673:Dhx57	APN	17	80,574,974 (GRCm39)	missense	probably damaging	1.00
IGL02836:Dhx57	APN	17	80,574,978 (GRCm39)	missense	probably damaging	1.00
IGL02889:Dhx57	APN	17	80,554,581 (GRCm39)	missense	possibly damaging	0.90
IGL03085:Dhx57	APN	17	80,565,526 (GRCm39)	missense	possibly damaging	0.48
P0014:Dhx57	UTSW	17	80,582,620 (GRCm39)	missense	probably benign	0.00
PIT4377001:Dhx57	UTSW	17	80,571,404 (GRCm39)	missense	probably damaging	0.96
R0100:Dhx57	UTSW	17	80,582,585 (GRCm39)	missense	possibly damaging	0.82
R0100:Dhx57	UTSW	17	80,582,585 (GRCm39)	missense	possibly damaging	0.82
R0129:Dhx57	UTSW	17	80,546,343 (GRCm39)	missense	probably damaging	1.00
R0200:Dhx57	UTSW	17	80,558,902 (GRCm39)	missense	probably damaging	1.00
R0309:Dhx57	UTSW	17	80,582,310 (GRCm39)	missense	probably damaging	1.00
R0375:Dhx57	UTSW	17	80,565,550 (GRCm39)	missense	probably damaging	1.00
R0396:Dhx57	UTSW	17	80,582,226 (GRCm39)	missense	probably benign	0.34
R0520:Dhx57	UTSW	17	80,565,604 (GRCm39)	missense	possibly damaging	0.95
R0554:Dhx57	UTSW	17	80,567,665 (GRCm39)	nonsense	probably null
R0661:Dhx57	UTSW	17	80,576,293 (GRCm39)	missense	probably damaging	1.00
R0883:Dhx57	UTSW	17	80,577,800 (GRCm39)	missense	probably damaging	1.00
R0900:Dhx57	UTSW	17	80,583,011 (GRCm39)	missense	probably benign
R0963:Dhx57	UTSW	17	80,582,956 (GRCm39)	missense	probably benign	0.01
R1469:Dhx57	UTSW	17	80,561,847 (GRCm39)	missense	probably damaging	1.00
R1469:Dhx57	UTSW	17	80,561,847 (GRCm39)	missense	probably damaging	1.00
R1660:Dhx57	UTSW	17	80,553,157 (GRCm39)	missense	possibly damaging	0.83
R1707:Dhx57	UTSW	17	80,582,655 (GRCm39)	missense	probably damaging	0.96
R1822:Dhx57	UTSW	17	80,560,514 (GRCm39)	critical splice donor site	probably null
R1853:Dhx57	UTSW	17	80,582,308 (GRCm39)	nonsense	probably null
R1942:Dhx57	UTSW	17	80,572,573 (GRCm39)	missense	probably damaging	1.00
R2043:Dhx57	UTSW	17	80,560,509 (GRCm39)	splice site	probably benign
R2106:Dhx57	UTSW	17	80,582,792 (GRCm39)	missense	probably damaging	1.00
R2127:Dhx57	UTSW	17	80,580,477 (GRCm39)	missense	probably damaging	1.00
R2249:Dhx57	UTSW	17	80,588,663 (GRCm39)	missense	probably damaging	0.98
R2400:Dhx57	UTSW	17	80,567,845 (GRCm39)	missense	probably damaging	0.99
R2404:Dhx57	UTSW	17	80,561,733 (GRCm39)	missense	probably damaging	0.98
R2513:Dhx57	UTSW	17	80,549,378 (GRCm39)	splice site	probably null
R2869:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2869:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R2874:Dhx57	UTSW	17	80,558,805 (GRCm39)	missense	probably benign	0.22
R3819:Dhx57	UTSW	17	80,572,503 (GRCm39)	critical splice donor site	probably null
R3964:Dhx57	UTSW	17	80,572,541 (GRCm39)	nonsense	probably null
R4535:Dhx57	UTSW	17	80,582,511 (GRCm39)	missense	probably damaging	1.00
R4666:Dhx57	UTSW	17	80,582,390 (GRCm39)	missense	probably damaging	1.00
R4788:Dhx57	UTSW	17	80,582,760 (GRCm39)	missense	probably benign	0.01
R4822:Dhx57	UTSW	17	80,549,596 (GRCm39)	splice site	probably null
R4863:Dhx57	UTSW	17	80,560,540 (GRCm39)	missense	probably damaging	1.00
R4988:Dhx57	UTSW	17	80,558,827 (GRCm39)	missense	probably damaging	1.00
R5391:Dhx57	UTSW	17	80,582,510 (GRCm39)	missense	probably damaging	1.00
R5559:Dhx57	UTSW	17	80,561,808 (GRCm39)	missense	possibly damaging	0.53
R5644:Dhx57	UTSW	17	80,546,302 (GRCm39)	missense	possibly damaging	0.73
R5997:Dhx57	UTSW	17	80,553,235 (GRCm39)	missense	probably damaging	0.96
R6090:Dhx57	UTSW	17	80,571,375 (GRCm39)	critical splice donor site	probably null
R6177:Dhx57	UTSW	17	80,580,395 (GRCm39)	missense	possibly damaging	0.91
R6283:Dhx57	UTSW	17	80,582,234 (GRCm39)	missense	probably benign	0.00
R6802:Dhx57	UTSW	17	80,582,750 (GRCm39)	missense	probably benign	0.43
R6924:Dhx57	UTSW	17	80,546,244 (GRCm39)	missense	possibly damaging	0.71
R7151:Dhx57	UTSW	17	80,580,476 (GRCm39)	missense	probably damaging	1.00
R7386:Dhx57	UTSW	17	80,575,006 (GRCm39)	missense	possibly damaging	0.89
R7393:Dhx57	UTSW	17	80,563,000 (GRCm39)	missense	probably damaging	1.00
R7451:Dhx57	UTSW	17	80,554,542 (GRCm39)	missense	probably damaging	1.00
R7602:Dhx57	UTSW	17	80,582,290 (GRCm39)	missense	probably benign	0.06
R7733:Dhx57	UTSW	17	80,572,503 (GRCm39)	critical splice donor site	probably null
R7748:Dhx57	UTSW	17	80,572,546 (GRCm39)	missense	probably damaging	1.00
R7749:Dhx57	UTSW	17	80,546,287 (GRCm39)	missense	probably benign	0.04
R7772:Dhx57	UTSW	17	80,580,507 (GRCm39)	missense	possibly damaging	0.71
R8213:Dhx57	UTSW	17	80,582,585 (GRCm39)	missense	possibly damaging	0.82
R8370:Dhx57	UTSW	17	80,553,192 (GRCm39)	missense	probably damaging	1.00
R8371:Dhx57	UTSW	17	80,582,919 (GRCm39)	missense	probably benign	0.18
R8403:Dhx57	UTSW	17	80,585,718 (GRCm39)	missense	probably damaging	1.00
R8467:Dhx57	UTSW	17	80,561,853 (GRCm39)	missense	probably damaging	1.00
R8690:Dhx57	UTSW	17	80,577,794 (GRCm39)	critical splice donor site	probably benign
R9210:Dhx57	UTSW	17	80,576,338 (GRCm39)	missense	probably damaging	1.00
R9212:Dhx57	UTSW	17	80,576,338 (GRCm39)	missense	probably damaging	1.00
R9447:Dhx57	UTSW	17	80,549,523 (GRCm39)	missense	probably damaging	1.00
R9562:Dhx57	UTSW	17	80,561,817 (GRCm39)	missense	probably damaging	1.00
R9669:Dhx57	UTSW	17	80,553,130 (GRCm39)	missense	probably benign	0.09
R9717:Dhx57	UTSW	17	80,582,447 (GRCm39)	missense	probably damaging	1.00
Z1088:Dhx57	UTSW	17	80,558,777 (GRCm39)	missense	probably damaging	1.00
Z1176:Dhx57	UTSW	17	80,553,234 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AAAGGTTGTGTCGTCATCAGC -3'
(R):5'- TCCGCCAGTGTTTCTCAGAG -3'

Sequencing Primer
(F):5'- TGTCGTCATCAGCGTCAAG -3'
(R):5'- CCAGTGTTTCTCAGAGACGTTTG -3'

Posted On

2014-10-02