Mutagenetix > Incidental Mutation

Incidental Mutation 'R6924:Dhx57'

539815

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

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

Synonyms

MMRRC Submission

045042-MU

Accession Numbers

Essential gene?

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

Stock #

R6924 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80238304-80290476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80238815 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1380 (M1380K)

Ref Sequence

ENSEMBL: ENSMUSP00000083742 (fasta)

Gene Model

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

AlphaFold

Q6P5D3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038166
AA Change: M1327K

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: M1327K

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

possibly damaging
Transcript: ENSMUST00000086555
AA Change: M1380K

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: M1380K

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: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

98% (54/55)

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	C	4: 39,450,884 (GRCm38)	H30P	probably damaging	Het
Abhd6	A	T	14: 8,049,850 (GRCm38)	H213L	possibly damaging	Het
Adam22	T	A	5: 8,367,322 (GRCm38)	N40I	possibly damaging	Het
Ankrd42	A	G	7: 92,582,016 (GRCm38)		probably benign	Het
Arhgap40	C	T	2: 158,527,146 (GRCm38)	R63C	probably benign	Het
Atf7ip	T	G	6: 136,559,757 (GRCm38)		probably null	Het
Atg7	T	C	6: 114,709,211 (GRCm38)		probably null	Het
Car6	A	C	4: 150,189,256 (GRCm38)		probably null	Het
Carmil1	A	T	13: 24,075,684 (GRCm38)	C302*	probably null	Het
Ccdc117	A	T	11: 5,534,255 (GRCm38)	M195K	probably benign	Het
Cep95	T	C	11: 106,811,197 (GRCm38)	M383T	probably damaging	Het
Col20a1	A	G	2: 180,996,850 (GRCm38)	E419G	probably damaging	Het
Cyp2d9	C	G	15: 82,455,212 (GRCm38)	R272G	probably damaging	Het
Dnah14	A	G	1: 181,627,952 (GRCm38)	S881G	probably benign	Het
Fcgbp	T	A	7: 28,093,823 (GRCm38)	I1084N	probably benign	Het
Fgf17	A	T	14: 70,641,541 (GRCm38)	C21*	probably null	Het
Gemin4	A	G	11: 76,212,336 (GRCm38)	L533P	probably damaging	Het
Gkn3	T	C	6: 87,388,802 (GRCm38)	R12G	probably benign	Het
Gpr161	G	T	1: 165,321,619 (GRCm38)	R519L	possibly damaging	Het
Grin2a	A	G	16: 9,663,228 (GRCm38)	V535A	possibly damaging	Het
Gys1	G	A	7: 45,443,635 (GRCm38)		probably null	Het
Hfm1	C	T	5: 106,850,410 (GRCm38)		probably null	Het
Hmcn2	T	A	2: 31,350,505 (GRCm38)		probably null	Het
Hnrnpul2	T	C	19: 8,831,509 (GRCm38)	Y738H	unknown	Het
Hycc1	T	C	5: 23,986,135 (GRCm38)		probably null	Het
Igsf23	A	G	7: 19,941,759 (GRCm38)	S141P	possibly damaging	Het
Lamc3	A	C	2: 31,938,069 (GRCm38)	M1423L	probably benign	Het
Lcmt2	T	C	2: 121,140,003 (GRCm38)	T200A	probably benign	Het
Lgr4	T	C	2: 110,012,439 (GRCm38)	V899A	probably damaging	Het
Macf1	T	A	4: 123,527,352 (GRCm38)	R36S	possibly damaging	Het
Mrgprb8	A	G	7: 48,389,123 (GRCm38)	K181E	possibly damaging	Het
Muc2	G	A	7: 141,697,834 (GRCm38)	V786M	possibly damaging	Het
Nacc2	T	C	2: 26,090,029 (GRCm38)	T132A	probably damaging	Het
Nsmce2	T	A	15: 59,378,925 (GRCm38)	I15K	probably damaging	Het
Or10p22	T	G	10: 128,990,091 (GRCm38)	Y60D	probably damaging	Het
Or4k15c	A	G	14: 50,083,850 (GRCm38)	I277T	possibly damaging	Het
Otoa	A	T	7: 121,131,501 (GRCm38)		probably null	Het
Otogl	A	G	10: 107,808,641 (GRCm38)	I1248T	probably damaging	Het
Ppp1r17	T	A	6: 56,026,022 (GRCm38)	D32E	probably damaging	Het
Relt	A	C	7: 100,847,261 (GRCm38)	V427G	probably damaging	Het
Ric1	T	A	19: 29,569,388 (GRCm38)	V256D	probably damaging	Het
Samhd1	T	C	2: 157,109,483 (GRCm38)	T445A	probably benign	Het
Sepsecs	T	C	5: 52,664,304 (GRCm38)	I189V	probably benign	Het
Shroom3	T	A	5: 92,964,403 (GRCm38)	D1793E	probably damaging	Het
Sim1	C	T	10: 50,908,539 (GRCm38)	T137I	probably benign	Het
Stk17b	A	T	1: 53,761,059 (GRCm38)	D253E	possibly damaging	Het
Stmnd1	T	C	13: 46,299,493 (GRCm38)	V215A	probably benign	Het
Tcl1	A	G	12: 105,218,756 (GRCm38)	L65P	probably damaging	Het
Tiam2	A	C	17: 3,507,795 (GRCm38)	K1231N	probably damaging	Het
Tm9sf3	T	C	19: 41,218,278 (GRCm38)	Y476C	probably damaging	Het
Trim63	T	C	4: 134,321,261 (GRCm38)	S194P	probably damaging	Het
Ugt1a10	T	A	1: 88,055,657 (GRCm38)	I59N	probably damaging	Het
Vmn2r65	A	G	7: 84,963,990 (GRCm38)	F7S	probably benign	Het
Zfp775	T	A	6: 48,619,655 (GRCm38)	H154Q	probably damaging	Het
Zfp804b	C	T	5: 6,769,902 (GRCm38)	V1018I	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
R4988:Dhx57	UTSW	17	80,251,398 (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
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'- GCTCCAAATTGTGCTGGGAG -3'
(R):5'- TAAGCCATGATAACCAGTCAGATG -3'

Sequencing Primer
(F):5'- CACGTTTTCAGAAACACCAGTGTG -3'
(R):5'- CCATGATAACCAGTCAGATGCTTTG -3'

Posted On

2018-11-06