Mutagenetix > Incidental Mutation

Incidental Mutation 'R7749:Dhx57'

597125

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57

Synonyms

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_001163759.1, NM_198942.2; MGI:2147067

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R7749 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80238304-80290476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80238858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1366 (M1366L)

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: M1313L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: M1313L

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: M1366L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: M1366L

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

Validation Efficiency

99% (66/67)

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	A	T	1: 134,390,512	M341L	probably benign	Het
Actr1a	A	T	19: 46,379,747	S254T	probably benign	Het
Adam12	G	A	7: 134,224,813	A22V	unknown	Het
Adarb2	A	G	13: 8,569,739	D87G	possibly damaging	Het
Aldh6a1	A	T	12: 84,442,081	I59N	probably benign	Het
Ankrd50	C	T	3: 38,482,721	C161Y	probably damaging	Het
Ankrd7	A	G	6: 18,879,516		probably null	Het
Anks1	T	A	17: 28,038,141	I707N	probably damaging	Het
Atoh1	A	T	6: 64,729,920	M200L	possibly damaging	Het
Bmp1	C	T	14: 70,492,844	R416H	probably damaging	Het
Caprin1	A	G	2: 103,771,754	S548P	probably benign	Het
Ccdc167	T	A	17: 29,705,273	Y63F	possibly damaging	Het
Cfap99	T	A	5: 34,307,940	D174E	probably benign	Het
Chil3	T	G	3: 106,148,845	N331T	probably benign	Het
Chmp5	T	A	4: 40,949,488	I35N	probably damaging	Het
Cpt1c	A	T	7: 44,962,265	S537T	probably benign	Het
Dctn1	A	T	6: 83,186,141		probably benign	Het
Dnah9	T	A	11: 65,911,830	Y3478F	probably damaging	Het
Efna3	A	G	3: 89,316,640	Y81H	probably damaging	Het
Eif4enif1	T	C	11: 3,242,608	V812A	probably damaging	Het
Erg	A	T	16: 95,377,357	I237N	probably benign	Het
Fem1c	G	T	18: 46,524,118	N176K	probably damaging	Het
Fgd4	T	C	16: 16,475,154	Y233C	probably benign	Het
Foxd2	G	A	4: 114,907,812	A337V	unknown	Het
Gsdma2	T	C	11: 98,657,721	L433P	unknown	Het
Hmcn2	C	A	2: 31,453,033		probably null	Het
Hnrnpul2	T	C	19: 8,820,424	V48A	probably benign	Het
Hsf1	T	A	15: 76,499,187	S396T	probably benign	Het
Htr5b	G	T	1: 121,527,758	N144K	probably damaging	Het
Igkv9-120	T	C	6: 68,050,188	S29P	probably damaging	Het
Igsf10	T	A	3: 59,329,128	N1211Y	possibly damaging	Het
Kcnh1	A	C	1: 192,277,139	I334L	probably benign	Het
Laptm4b	T	C	15: 34,276,200	I158T	probably benign	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nav3	T	C	10: 109,703,352	T2063A	probably damaging	Het
Nceh1	T	A	3: 27,207,382	D47E	probably benign	Het
Nckap5	A	G	1: 126,024,646	S1390P	probably damaging	Het
Npepps	T	G	11: 97,267,628	I104L	probably benign	Het
Numb	A	G	12: 83,801,277	S229P	not run	Het
Olfr1156	G	A	2: 87,949,478	H252Y	probably damaging	Het
Olfr1342	T	C	4: 118,690,228	S75G	probably damaging	Het
Olfr1443	A	T	19: 12,680,212	I35F	probably benign	Het
Opn1sw	T	A	6: 29,380,169	I83F	probably benign	Het
Pigg	T	G	5: 108,336,296	C603G	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pkhd1l1	C	A	15: 44,527,737	H1504N	probably benign	Het
Plcd4	A	G	1: 74,565,133	N757D	possibly damaging	Het
Ppia	A	G	11: 6,419,569	T152A	probably benign	Het
Psmd8	G	A	7: 29,178,921		probably null	Het
Pxn	T	A	5: 115,548,516	Y356N	probably benign	Het
Rhoa	G	C	9: 108,336,715	C159S	probably damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rita1	C	T	5: 120,611,441	C69Y	probably benign	Het
Satb1	A	G	17: 51,767,933	S512P	possibly damaging	Het
Sectm1b	A	G	11: 121,054,942	I191T	possibly damaging	Het
Slc22a6	A	G	19: 8,621,896	K297R	possibly damaging	Het
Snrnp48	T	C	13: 38,221,287	Y287H	probably benign	Het
Sntg2	A	T	12: 30,226,911	C381S	probably benign	Het
Syngap1	T	A	17: 26,959,964	M649K	probably damaging	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Thap2	T	C	10: 115,376,384	I79V	probably damaging	Het
Thap7	T	C	16: 17,528,603	N172S	probably benign	Het
Ticrr	A	G	7: 79,679,096	Y661C	possibly damaging	Het
Ttn	T	C	2: 76,776,315	N18084D	probably damaging	Het
Usp48	A	T	4: 137,650,417	K1020M	probably damaging	Het
Vmn2r12	T	C	5: 109,086,054	N764S	probably damaging	Het
Vmn2r91	A	G	17: 18,136,278	I736V	possibly damaging	Het
Wfdc6b	T	A	2: 164,617,419	C134S	probably damaging	Het
Zcchc2	A	T	1: 106,018,273	D481V	probably damaging	Het
Zfp949	G	A	9: 88,569,870	G498R	probably damaging	Het

Other mutations in Dhx57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Dhx57	APN	17	80274976	missense	probably benign	0.00
IGL00811:Dhx57	APN	17	80253243	missense	probably damaging	1.00
IGL01389:Dhx57	APN	17	80281223	missense	probably benign	0.28
IGL01468:Dhx57	APN	17	80255610	nonsense	probably null
IGL01908:Dhx57	APN	17	80251443	missense	probably damaging	1.00
IGL01965:Dhx57	APN	17	80268850	missense	probably damaging	1.00
IGL02147:Dhx57	APN	17	80260323	missense	possibly damaging	0.95
IGL02275:Dhx57	APN	17	80274839	missense	probably benign	0.13
IGL02349:Dhx57	APN	17	80255571	missense	probably damaging	1.00
IGL02405:Dhx57	APN	17	80255550	critical splice donor site	probably null
IGL02588:Dhx57	APN	17	80268871	missense	probably damaging	1.00
IGL02673:Dhx57	APN	17	80267545	missense	probably damaging	1.00
IGL02836:Dhx57	APN	17	80267549	missense	probably damaging	1.00
IGL02889:Dhx57	APN	17	80247152	missense	possibly damaging	0.90
IGL03085:Dhx57	APN	17	80258097	missense	possibly damaging	0.48
P0014:Dhx57	UTSW	17	80275191	missense	probably benign	0.00
PIT4377001:Dhx57	UTSW	17	80263975	missense	probably damaging	0.96
R0100:Dhx57	UTSW	17	80275156	missense	possibly damaging	0.82
R0100:Dhx57	UTSW	17	80275156	missense	possibly damaging	0.82
R0129:Dhx57	UTSW	17	80238914	missense	probably damaging	1.00
R0200:Dhx57	UTSW	17	80251473	missense	probably damaging	1.00
R0309:Dhx57	UTSW	17	80274881	missense	probably damaging	1.00
R0375:Dhx57	UTSW	17	80258121	missense	probably damaging	1.00
R0396:Dhx57	UTSW	17	80274797	missense	probably benign	0.34
R0520:Dhx57	UTSW	17	80258175	missense	possibly damaging	0.95
R0554:Dhx57	UTSW	17	80260236	nonsense	probably null
R0661:Dhx57	UTSW	17	80268864	missense	probably damaging	1.00
R0883:Dhx57	UTSW	17	80270371	missense	probably damaging	1.00
R0900:Dhx57	UTSW	17	80275582	missense	probably benign
R0963:Dhx57	UTSW	17	80275527	missense	probably benign	0.01
R1469:Dhx57	UTSW	17	80254418	missense	probably damaging	1.00
R1469:Dhx57	UTSW	17	80254418	missense	probably damaging	1.00
R1660:Dhx57	UTSW	17	80245728	missense	possibly damaging	0.83
R1707:Dhx57	UTSW	17	80275226	missense	probably damaging	0.96
R1822:Dhx57	UTSW	17	80253085	critical splice donor site	probably null
R1853:Dhx57	UTSW	17	80274879	nonsense	probably null
R1942:Dhx57	UTSW	17	80265144	missense	probably damaging	1.00
R2043:Dhx57	UTSW	17	80253080	splice site	probably benign
R2106:Dhx57	UTSW	17	80275363	missense	probably damaging	1.00
R2127:Dhx57	UTSW	17	80273048	missense	probably damaging	1.00
R2183:Dhx57	UTSW	17	80275331	missense	probably benign	0.07
R2249:Dhx57	UTSW	17	80281234	missense	probably damaging	0.98
R2400:Dhx57	UTSW	17	80260416	missense	probably damaging	0.99
R2404:Dhx57	UTSW	17	80254304	missense	probably damaging	0.98
R2513:Dhx57	UTSW	17	80241949	splice site	probably null
R2869:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2869:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R2874:Dhx57	UTSW	17	80251376	missense	probably benign	0.22
R3819:Dhx57	UTSW	17	80265074	critical splice donor site	probably null
R3964:Dhx57	UTSW	17	80265112	nonsense	probably null
R4535:Dhx57	UTSW	17	80275082	missense	probably damaging	1.00
R4666:Dhx57	UTSW	17	80274961	missense	probably damaging	1.00
R4788:Dhx57	UTSW	17	80275331	missense	probably benign	0.01
R4822:Dhx57	UTSW	17	80242167	splice site	probably null
R4863:Dhx57	UTSW	17	80253111	missense	probably damaging	1.00
R4988:Dhx57	UTSW	17	80251398	missense	probably damaging	1.00
R5391:Dhx57	UTSW	17	80275081	missense	probably damaging	1.00
R5559:Dhx57	UTSW	17	80254379	missense	possibly damaging	0.53
R5644:Dhx57	UTSW	17	80238873	missense	possibly damaging	0.73
R5997:Dhx57	UTSW	17	80245806	missense	probably damaging	0.96
R6090:Dhx57	UTSW	17	80263946	critical splice donor site	probably null
R6177:Dhx57	UTSW	17	80272966	missense	possibly damaging	0.91
R6283:Dhx57	UTSW	17	80274805	missense	probably benign	0.00
R6802:Dhx57	UTSW	17	80275321	missense	probably benign	0.43
R6924:Dhx57	UTSW	17	80238815	missense	possibly damaging	0.71
R7151:Dhx57	UTSW	17	80273047	missense	probably damaging	1.00
R7386:Dhx57	UTSW	17	80267577	missense	possibly damaging	0.89
R7393:Dhx57	UTSW	17	80255571	missense	probably damaging	1.00
R7451:Dhx57	UTSW	17	80247113	missense	probably damaging	1.00
R7602:Dhx57	UTSW	17	80274861	missense	probably benign	0.06
R7733:Dhx57	UTSW	17	80265074	critical splice donor site	probably null
R7748:Dhx57	UTSW	17	80265117	missense	probably damaging	1.00
R7772:Dhx57	UTSW	17	80273078	missense	possibly damaging	0.71
R8213:Dhx57	UTSW	17	80275156	missense	possibly damaging	0.82
R8370:Dhx57	UTSW	17	80245763	missense	probably damaging	1.00
R8371:Dhx57	UTSW	17	80275490	missense	probably benign	0.18
R8403:Dhx57	UTSW	17	80278289	missense	probably damaging	1.00
R8467:Dhx57	UTSW	17	80254424	missense	probably damaging	1.00
R8690:Dhx57	UTSW	17	80270365	critical splice donor site	probably benign
R9210:Dhx57	UTSW	17	80268909	missense	probably damaging	1.00
R9212:Dhx57	UTSW	17	80268909	missense	probably damaging	1.00
R9447:Dhx57	UTSW	17	80242094	missense	probably damaging	1.00
R9562:Dhx57	UTSW	17	80254388	missense	probably damaging	1.00
R9669:Dhx57	UTSW	17	80245701	missense	probably benign	0.09
R9717:Dhx57	UTSW	17	80275018	missense	probably damaging	1.00
Z1088:Dhx57	UTSW	17	80251348	missense	probably damaging	1.00
Z1176:Dhx57	UTSW	17	80245805	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCAGTGTGGAGACTGTCTCTTG -3'
(R):5'- GTTACAGAGTGAAAGCGTGTTC -3'

Sequencing Primer
(F):5'- CTGGCTCTGCACCCCAG -3'
(R):5'- AGCGTGTTCTAAAGTACTGTCAGAG -3'

Posted On

2019-11-26