Mutagenetix > Incidental Mutation

Incidental Mutation 'R0554:Dhx57'

45417

Institutional Source

Beutler Lab

Gene Symbol

Dhx57

Ensembl Gene

ENSMUSG00000035051

Gene Name

DExH-box helicase 57

Synonyms

MMRRC Submission

038746-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R0554 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80545733-80597620 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 80567665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 806 (L806*)

Ref Sequence

ENSEMBL: ENSMUSP00000083742 (fasta)

Gene Model

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

AlphaFold

Q6P5D3

Predicted Effect

probably null
Transcript: ENSMUST00000038166
AA Change: L753*

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: L753*

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 null
Transcript: ENSMUST00000086555
AA Change: L806*

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: L806*

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: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,181 (GRCm39)	Y255*	probably null	Het
1810024B03Rik	A	G	2: 127,029,196 (GRCm39)	M1T	probably null	Het
4930503L19Rik	T	C	18: 70,600,451 (GRCm39)	D386G	probably damaging	Het
Ace2	T	A	X: 162,958,947 (GRCm39)	N601K	probably benign	Het
Adam4	A	C	12: 81,468,198 (GRCm39)	I141R	probably damaging	Het
Adcy10	G	A	1: 165,340,699 (GRCm39)	G235S	probably benign	Het
Adcy5	G	A	16: 35,114,387 (GRCm39)	V997I	probably benign	Het
Aff2	T	G	X: 68,907,680 (GRCm39)	W1221G	possibly damaging	Het
Ankrd44	T	C	1: 54,802,917 (GRCm39)	N194D	probably benign	Het
Apba2	T	G	7: 64,395,528 (GRCm39)	L668R	probably damaging	Het
Asph	T	C	4: 9,604,581 (GRCm39)	D152G	probably damaging	Het
Bcl3	C	G	7: 19,553,991 (GRCm39)	V126L	probably benign	Het
Cd163	A	G	6: 124,289,619 (GRCm39)	T446A	probably benign	Het
Cd209g	C	T	8: 4,184,995 (GRCm39)		probably benign	Het
Cdadc1	A	T	14: 59,823,901 (GRCm39)	V197E	probably damaging	Het
CN725425	T	C	15: 91,144,966 (GRCm39)	C610R	possibly damaging	Het
Col6a2	A	G	10: 76,446,995 (GRCm39)		probably null	Het
Coro7	A	G	16: 4,450,121 (GRCm39)	L576P	possibly damaging	Het
Dgkb	T	A	12: 38,266,030 (GRCm39)	V503E	probably benign	Het
Dlec1	T	C	9: 118,944,070 (GRCm39)	V373A	probably benign	Het
Dnah11	G	T	12: 117,894,913 (GRCm39)	R3645S	probably benign	Het
Dnhd1	T	C	7: 105,343,602 (GRCm39)	S1649P	probably benign	Het
Draxin	T	G	4: 148,192,420 (GRCm39)	K297N	probably damaging	Het
Epha7	T	C	4: 28,951,401 (GRCm39)	S841P	probably damaging	Het
Esp8	T	G	17: 40,841,166 (GRCm39)	D142E	unknown	Het
F5	T	G	1: 164,007,018 (GRCm39)	V274G	probably damaging	Het
Fancc	T	C	13: 63,465,283 (GRCm39)	S475G	probably benign	Het
Fmo3	T	C	1: 162,781,901 (GRCm39)	N484S	probably benign	Het
Focad	T	C	4: 88,267,126 (GRCm39)	Y1046H	unknown	Het
Furin	C	T	7: 80,041,032 (GRCm39)	G602D	probably damaging	Het
Fut8	A	T	12: 77,411,744 (GRCm39)	I69L	probably benign	Het
Gnai3	A	G	3: 108,030,928 (GRCm39)	I78T	probably benign	Het
Gpr182	T	C	10: 127,586,940 (GRCm39)	I4V	probably benign	Het
Gpr63	T	C	4: 25,007,447 (GRCm39)	M57T	probably benign	Het
Grm1	T	A	10: 10,595,667 (GRCm39)	T654S	probably benign	Het
Gtf2h4	T	C	17: 35,979,531 (GRCm39)	T371A	probably benign	Het
Helq	T	C	5: 100,938,066 (GRCm39)	N460S	probably benign	Het
Hmcn1	T	C	1: 150,594,868 (GRCm39)	N1867S	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Iigp1c	G	A	18: 60,378,489 (GRCm39)	R8H	probably benign	Het
Inpp5j	A	G	11: 3,449,644 (GRCm39)	Y713H	probably damaging	Het
Ints6	A	T	14: 62,942,200 (GRCm39)	V511D	possibly damaging	Het
Irag2	G	A	6: 145,111,013 (GRCm39)	A237T	probably benign	Het
Itga4	A	G	2: 79,109,461 (GRCm39)	Y220C	probably damaging	Het
Itgav	T	G	2: 83,624,614 (GRCm39)	S735A	possibly damaging	Het
Kctd16	A	G	18: 40,391,492 (GRCm39)	I27V	probably benign	Het
Klhl6	T	C	16: 19,772,343 (GRCm39)	E334G	probably damaging	Het
Ltbp1	T	A	17: 75,532,274 (GRCm39)	L116H	probably damaging	Het
Magohb	T	A	6: 131,262,660 (GRCm39)	H98L	probably benign	Het
Mgat2	A	G	12: 69,232,166 (GRCm39)	T247A	probably benign	Het
Mtif2	G	A	11: 29,483,398 (GRCm39)		probably null	Het
Myrfl	T	C	10: 116,664,878 (GRCm39)	E384G	probably damaging	Het
Nfam1	G	T	15: 82,917,410 (GRCm39)	R8S	probably benign	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or14c46	A	T	7: 85,918,865 (GRCm39)	I44N	probably damaging	Het
Or2w3b	T	C	11: 58,623,865 (GRCm39)	N42S	probably damaging	Het
Or5m10b	T	C	2: 85,699,863 (GRCm39)	F309S	probably benign	Het
Or6c207	T	C	10: 129,104,368 (GRCm39)	T275A	probably benign	Het
Orc4	C	T	2: 48,795,433 (GRCm39)	S431N	probably benign	Het
Pax2	T	C	19: 44,750,300 (GRCm39)	V129A	probably damaging	Het
Pcdhb15	A	G	18: 37,607,572 (GRCm39)	D268G	probably damaging	Het
Pdcd1	G	A	1: 93,967,107 (GRCm39)	R264C	probably damaging	Het
Pi15	T	A	1: 17,691,872 (GRCm39)	M187K	probably benign	Het
Plag1	C	T	4: 3,904,546 (GRCm39)	C215Y	probably damaging	Het
Plagl1	A	G	10: 13,002,926 (GRCm39)	T65A	probably benign	Het
Pramel51	T	C	12: 88,144,328 (GRCm39)	T162A	probably benign	Het
Prss48	T	A	3: 85,908,228 (GRCm39)	Q18L	probably benign	Het
Prune2	T	A	19: 17,102,582 (GRCm39)	C2580*	probably null	Het
Rab40b	T	A	11: 121,250,432 (GRCm39)	Q74L	probably damaging	Het
Raf1	A	G	6: 115,600,491 (GRCm39)	I376T	probably benign	Het
Rbm46	A	T	3: 82,772,575 (GRCm39)	F186I	probably damaging	Het
Reps1	C	T	10: 17,998,867 (GRCm39)	T720M	possibly damaging	Het
Rgs22	A	G	15: 36,054,855 (GRCm39)	M649T	probably benign	Het
Rhot1	C	T	11: 80,134,264 (GRCm39)	R47*	probably null	Het
Rhox2f	A	G	X: 36,753,124 (GRCm39)	Y8C	possibly damaging	Het
Rnf17	A	G	14: 56,760,007 (GRCm39)	Y1604C	probably damaging	Het
Rnf40	T	C	7: 127,201,756 (GRCm39)	C943R	probably damaging	Het
Ropn1l	A	T	15: 31,451,295 (GRCm39)	M63K	probably benign	Het
Sbf2	C	A	7: 110,027,494 (GRCm39)	V501F	probably damaging	Het
Sh3bp1	T	A	15: 78,791,467 (GRCm39)	M354K	probably damaging	Het
Sipa1l3	T	C	7: 29,087,455 (GRCm39)	H590R	possibly damaging	Het
Slco6d1	T	A	1: 98,394,422 (GRCm39)	C369S	probably benign	Het
Sulf1	T	C	1: 12,875,418 (GRCm39)	Y143H	probably damaging	Het
Tiam2	A	T	17: 3,488,956 (GRCm39)	R755*	probably null	Het
Trim12c	C	A	7: 103,994,169 (GRCm39)	L228F	probably damaging	Het
Ttc23l	G	T	15: 10,530,743 (GRCm39)	Q290K	probably benign	Het
Uba3	T	C	6: 97,168,221 (GRCm39)		probably null	Het
Ugt1a10	A	G	1: 87,983,817 (GRCm39)	E205G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,206 (GRCm39)	S72T	probably benign	Het
Upk3bl	C	T	5: 136,088,648 (GRCm39)	T113I	probably damaging	Het
Uspl1	T	A	5: 149,124,644 (GRCm39)	D20E	probably damaging	Het
Vmn2r19	G	A	6: 123,313,102 (GRCm39)	G724E	probably damaging	Het
Vmn2r63	T	A	7: 42,583,129 (GRCm39)	K29*	probably null	Het
Vwf	C	T	6: 125,619,744 (GRCm39)	A1474V	probably benign	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het
Zfp462	A	G	4: 55,013,689 (GRCm39)	H737R	probably damaging	Het
Zfp536	T	C	7: 37,180,244 (GRCm39)	D787G	probably damaging	Het
Zfp692	A	G	11: 58,205,053 (GRCm39)	H434R	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	probably benign	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
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
R2183:Dhx57	UTSW	17	80,582,760 (GRCm39)	missense	probably benign	0.07
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'- GTGATCAGAGGTGAACACACAGCC -3'
(R):5'- GCGTTCCATGAAACAGATTGCGAAG -3'

Sequencing Primer
(F):5'- CTTTGTCCTTAAAGCTGAGGC -3'
(R):5'- TTGCGAAGGAAAAGCTTAAAGCC -3'

Posted On

2013-06-11