Mutagenetix > Incidental Mutation

Incidental Mutation 'R4988:Dhx57'

385977

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

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

Synonyms

MMRRC Submission

042582-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R4988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80238304-80290476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80251398 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1044 (D1044G)

Ref Sequence

ENSEMBL: ENSMUSP00000083742 (fasta)

Gene Model

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

AlphaFold

Q6P5D3

Predicted Effect

probably damaging
Transcript: ENSMUST00000038166
AA Change: D991G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: D991G

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 damaging
Transcript: ENSMUST00000086555
AA Change: D1044G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: D1044G

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

Meta Mutation Damage Score

0.6230

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (58/58)

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	G	A	1: 130,742,710 (GRCm38)	G223E	probably damaging	Het
Abcb11	T	C	2: 69,323,892 (GRCm38)	N110S	probably benign	Het
Acaca	T	A	11: 84,263,295 (GRCm38)	H947Q	probably damaging	Het
Akap13	T	C	7: 75,730,528 (GRCm38)	M2202T	probably damaging	Het
Amy2b	T	C	3: 113,151,234 (GRCm38)		noncoding transcript	Het
Arhgef4	A	T	1: 34,723,454 (GRCm38)	H597L	unknown	Het
Asgr2	A	G	11: 70,097,839 (GRCm38)	I119M	probably benign	Het
Casc3	T	G	11: 98,821,874 (GRCm38)		probably null	Het
Cbr1b	A	G	16: 93,629,996 (GRCm38)	T162A	probably benign	Het
Ccdc7b	T	A	8: 129,145,532 (GRCm38)	M239K	possibly damaging	Het
Cdc27	A	G	11: 104,526,124 (GRCm38)	S334P	possibly damaging	Het
Ces1c	T	C	8: 93,100,708 (GRCm38)	E476G	probably damaging	Het
Clec3a	T	A	8: 114,418,087 (GRCm38)	M1K	probably null	Het
Col9a1	T	C	1: 24,185,192 (GRCm38)	S152P	unknown	Het
Cpd	A	G	11: 76,814,830 (GRCm38)	S359P	probably damaging	Het
Ctnnal1	A	T	4: 56,847,854 (GRCm38)	L95*	probably null	Het
Dync1h1	C	A	12: 110,658,126 (GRCm38)	T3700N	probably damaging	Het
Efcab5	A	G	11: 77,137,252 (GRCm38)	S418P	probably damaging	Het
Elp5	T	C	11: 69,979,842 (GRCm38)	D59G	probably benign	Het
Fam210a	G	A	18: 68,276,147 (GRCm38)	R31C	probably benign	Het
Farp1	A	G	14: 121,275,607 (GRCm38)	T792A	probably damaging	Het
Fmc1	A	T	6: 38,534,982 (GRCm38)	Y37F	probably benign	Het
Gm10717	T	A	9: 3,026,368 (GRCm38)	L72M	probably benign	Het
Gm1758	A	T	16: 14,502,203 (GRCm38)		noncoding transcript	Het
Gm4553	G	A	7: 142,164,992 (GRCm38)		probably benign	Het
Gpr156	A	G	16: 37,948,215 (GRCm38)	T33A	possibly damaging	Het
Hhat	A	T	1: 192,657,294 (GRCm38)		probably benign	Het
Hint2	T	C	4: 43,654,953 (GRCm38)	I59V	possibly damaging	Het
Hps4	C	T	5: 112,378,153 (GRCm38)		probably benign	Het
Hsd17b8	A	G	17: 34,027,288 (GRCm38)	F137S	probably damaging	Het
Klrc2	A	T	6: 129,656,463 (GRCm38)	C192S	probably benign	Het
Map1a	C	T	2: 121,303,050 (GRCm38)	T1211I	probably benign	Het
Mtus1	T	C	8: 41,084,541 (GRCm38)	N46S	probably benign	Het
Myo18a	T	C	11: 77,845,521 (GRCm38)		probably null	Het
Nbas	T	C	12: 13,408,265 (GRCm38)	S1258P	probably benign	Het
Ndst1	C	T	18: 60,702,933 (GRCm38)	G426D	probably damaging	Het
Nepro	A	G	16: 44,734,542 (GRCm38)	E327G	possibly damaging	Het
Nutm2	C	T	13: 50,472,343 (GRCm38)	T322I	possibly damaging	Het
Or10s1	G	A	9: 40,074,665 (GRCm38)	M123I	probably damaging	Het
Or1j18	T	C	2: 36,734,984 (GRCm38)	I221T	possibly damaging	Het
Or2m13	A	T	16: 19,407,110 (GRCm38)	M302K	probably benign	Het
Or6c66	T	C	10: 129,626,061 (GRCm38)		probably null	Het
Pcdhb15	G	A	18: 37,475,802 (GRCm38)	A696T	probably damaging	Het
Polm	C	A	11: 5,837,618 (GRCm38)	R45L	probably damaging	Het
Pon3	G	A	6: 5,254,582 (GRCm38)	R27*	probably null	Het
Proser1	T	C	3: 53,479,625 (GRCm38)	I845T	probably damaging	Het
Rassf8	A	G	6: 145,817,144 (GRCm38)	N406D	possibly damaging	Het
Skint10	A	T	4: 112,728,872 (GRCm38)	C182*	probably null	Het
Slc6a19	C	T	13: 73,685,840 (GRCm38)	W366*	probably null	Het
St7	T	C	6: 17,934,226 (GRCm38)	F470L	probably damaging	Het
St8sia4	T	A	1: 95,591,797 (GRCm38)	Y322F	possibly damaging	Het
Trav8-2	A	T	14: 53,738,357 (GRCm38)		probably benign	Het
Vwa8	A	T	14: 79,198,283 (GRCm38)	H1811L	probably benign	Het
Zfp14	G	A	7: 30,038,057 (GRCm38)	T501I	probably benign	Het

Other mutations in Dhx57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Dhx57	APN	17	80,274,976 (GRCm38)	missense	probably benign	0.00
IGL00811:Dhx57	APN	17	80,253,243 (GRCm38)	missense	probably damaging	1.00
IGL01389:Dhx57	APN	17	80,281,223 (GRCm38)	missense	probably benign	0.28
IGL01468:Dhx57	APN	17	80,255,610 (GRCm38)	nonsense	probably null
IGL01908:Dhx57	APN	17	80,251,443 (GRCm38)	missense	probably damaging	1.00
IGL01965:Dhx57	APN	17	80,268,850 (GRCm38)	missense	probably damaging	1.00
IGL02147:Dhx57	APN	17	80,260,323 (GRCm38)	missense	possibly damaging	0.95
IGL02275:Dhx57	APN	17	80,274,839 (GRCm38)	missense	probably benign	0.13
IGL02349:Dhx57	APN	17	80,255,571 (GRCm38)	missense	probably damaging	1.00
IGL02405:Dhx57	APN	17	80,255,550 (GRCm38)	critical splice donor site	probably null
IGL02588:Dhx57	APN	17	80,268,871 (GRCm38)	missense	probably damaging	1.00
IGL02673:Dhx57	APN	17	80,267,545 (GRCm38)	missense	probably damaging	1.00
IGL02836:Dhx57	APN	17	80,267,549 (GRCm38)	missense	probably damaging	1.00
IGL02889:Dhx57	APN	17	80,247,152 (GRCm38)	missense	possibly damaging	0.90
IGL03085:Dhx57	APN	17	80,258,097 (GRCm38)	missense	possibly damaging	0.48
P0014:Dhx57	UTSW	17	80,275,191 (GRCm38)	missense	probably benign	0.00
PIT4377001:Dhx57	UTSW	17	80,263,975 (GRCm38)	missense	probably damaging	0.96
R0100:Dhx57	UTSW	17	80,275,156 (GRCm38)	missense	possibly damaging	0.82
R0100:Dhx57	UTSW	17	80,275,156 (GRCm38)	missense	possibly damaging	0.82
R0129:Dhx57	UTSW	17	80,238,914 (GRCm38)	missense	probably damaging	1.00
R0200:Dhx57	UTSW	17	80,251,473 (GRCm38)	missense	probably damaging	1.00
R0309:Dhx57	UTSW	17	80,274,881 (GRCm38)	missense	probably damaging	1.00
R0375:Dhx57	UTSW	17	80,258,121 (GRCm38)	missense	probably damaging	1.00
R0396:Dhx57	UTSW	17	80,274,797 (GRCm38)	missense	probably benign	0.34
R0520:Dhx57	UTSW	17	80,258,175 (GRCm38)	missense	possibly damaging	0.95
R0554:Dhx57	UTSW	17	80,260,236 (GRCm38)	nonsense	probably null
R0661:Dhx57	UTSW	17	80,268,864 (GRCm38)	missense	probably damaging	1.00
R0883:Dhx57	UTSW	17	80,270,371 (GRCm38)	missense	probably damaging	1.00
R0900:Dhx57	UTSW	17	80,275,582 (GRCm38)	missense	probably benign
R0963:Dhx57	UTSW	17	80,275,527 (GRCm38)	missense	probably benign	0.01
R1469:Dhx57	UTSW	17	80,254,418 (GRCm38)	missense	probably damaging	1.00
R1469:Dhx57	UTSW	17	80,254,418 (GRCm38)	missense	probably damaging	1.00
R1660:Dhx57	UTSW	17	80,245,728 (GRCm38)	missense	possibly damaging	0.83
R1707:Dhx57	UTSW	17	80,275,226 (GRCm38)	missense	probably damaging	0.96
R1822:Dhx57	UTSW	17	80,253,085 (GRCm38)	critical splice donor site	probably null
R1853:Dhx57	UTSW	17	80,274,879 (GRCm38)	nonsense	probably null
R1942:Dhx57	UTSW	17	80,265,144 (GRCm38)	missense	probably damaging	1.00
R2043:Dhx57	UTSW	17	80,253,080 (GRCm38)	splice site	probably benign
R2106:Dhx57	UTSW	17	80,275,363 (GRCm38)	missense	probably damaging	1.00
R2127:Dhx57	UTSW	17	80,273,048 (GRCm38)	missense	probably damaging	1.00
R2183:Dhx57	UTSW	17	80,275,331 (GRCm38)	missense	probably benign	0.07
R2249:Dhx57	UTSW	17	80,281,234 (GRCm38)	missense	probably damaging	0.98
R2400:Dhx57	UTSW	17	80,260,416 (GRCm38)	missense	probably damaging	0.99
R2404:Dhx57	UTSW	17	80,254,304 (GRCm38)	missense	probably damaging	0.98
R2513:Dhx57	UTSW	17	80,241,949 (GRCm38)	splice site	probably null
R2869:Dhx57	UTSW	17	80,251,376 (GRCm38)	missense	probably benign	0.22
R2869:Dhx57	UTSW	17	80,251,376 (GRCm38)	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80,251,376 (GRCm38)	missense	probably benign	0.22
R2870:Dhx57	UTSW	17	80,251,376 (GRCm38)	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80,251,376 (GRCm38)	missense	probably benign	0.22
R2871:Dhx57	UTSW	17	80,251,376 (GRCm38)	missense	probably benign	0.22
R2874:Dhx57	UTSW	17	80,251,376 (GRCm38)	missense	probably benign	0.22
R3819:Dhx57	UTSW	17	80,265,074 (GRCm38)	critical splice donor site	probably null
R3964:Dhx57	UTSW	17	80,265,112 (GRCm38)	nonsense	probably null
R4535:Dhx57	UTSW	17	80,275,082 (GRCm38)	missense	probably damaging	1.00
R4666:Dhx57	UTSW	17	80,274,961 (GRCm38)	missense	probably damaging	1.00
R4788:Dhx57	UTSW	17	80,275,331 (GRCm38)	missense	probably benign	0.01
R4822:Dhx57	UTSW	17	80,242,167 (GRCm38)	splice site	probably null
R4863:Dhx57	UTSW	17	80,253,111 (GRCm38)	missense	probably damaging	1.00
R5391:Dhx57	UTSW	17	80,275,081 (GRCm38)	missense	probably damaging	1.00
R5559:Dhx57	UTSW	17	80,254,379 (GRCm38)	missense	possibly damaging	0.53
R5644:Dhx57	UTSW	17	80,238,873 (GRCm38)	missense	possibly damaging	0.73
R5997:Dhx57	UTSW	17	80,245,806 (GRCm38)	missense	probably damaging	0.96
R6090:Dhx57	UTSW	17	80,263,946 (GRCm38)	critical splice donor site	probably null
R6177:Dhx57	UTSW	17	80,272,966 (GRCm38)	missense	possibly damaging	0.91
R6283:Dhx57	UTSW	17	80,274,805 (GRCm38)	missense	probably benign	0.00
R6802:Dhx57	UTSW	17	80,275,321 (GRCm38)	missense	probably benign	0.43
R6924:Dhx57	UTSW	17	80,238,815 (GRCm38)	missense	possibly damaging	0.71
R7151:Dhx57	UTSW	17	80,273,047 (GRCm38)	missense	probably damaging	1.00
R7386:Dhx57	UTSW	17	80,267,577 (GRCm38)	missense	possibly damaging	0.89
R7393:Dhx57	UTSW	17	80,255,571 (GRCm38)	missense	probably damaging	1.00
R7451:Dhx57	UTSW	17	80,247,113 (GRCm38)	missense	probably damaging	1.00
R7602:Dhx57	UTSW	17	80,274,861 (GRCm38)	missense	probably benign	0.06
R7733:Dhx57	UTSW	17	80,265,074 (GRCm38)	critical splice donor site	probably null
R7748:Dhx57	UTSW	17	80,265,117 (GRCm38)	missense	probably damaging	1.00
R7749:Dhx57	UTSW	17	80,238,858 (GRCm38)	missense	probably benign	0.04
R7772:Dhx57	UTSW	17	80,273,078 (GRCm38)	missense	possibly damaging	0.71
R8213:Dhx57	UTSW	17	80,275,156 (GRCm38)	missense	possibly damaging	0.82
R8370:Dhx57	UTSW	17	80,245,763 (GRCm38)	missense	probably damaging	1.00
R8371:Dhx57	UTSW	17	80,275,490 (GRCm38)	missense	probably benign	0.18
R8403:Dhx57	UTSW	17	80,278,289 (GRCm38)	missense	probably damaging	1.00
R8467:Dhx57	UTSW	17	80,254,424 (GRCm38)	missense	probably damaging	1.00
R8690:Dhx57	UTSW	17	80,270,365 (GRCm38)	critical splice donor site	probably benign
R9210:Dhx57	UTSW	17	80,268,909 (GRCm38)	missense	probably damaging	1.00
R9212:Dhx57	UTSW	17	80,268,909 (GRCm38)	missense	probably damaging	1.00
R9447:Dhx57	UTSW	17	80,242,094 (GRCm38)	missense	probably damaging	1.00
R9562:Dhx57	UTSW	17	80,254,388 (GRCm38)	missense	probably damaging	1.00
R9669:Dhx57	UTSW	17	80,245,701 (GRCm38)	missense	probably benign	0.09
R9717:Dhx57	UTSW	17	80,275,018 (GRCm38)	missense	probably damaging	1.00
Z1088:Dhx57	UTSW	17	80,251,348 (GRCm38)	missense	probably damaging	1.00
Z1176:Dhx57	UTSW	17	80,245,805 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGATCCCTTTGAGAACTGTGAC -3'
(R):5'- AACAAAAGATCCCTCTGCTTCATTC -3'

Sequencing Primer
(F):5'- ACAAATGTCACTTACAAAAGGGGAC -3'
(R):5'- AAGATCCCTCTGCTTCATTCTACCAG -3'

Posted On

2016-05-10