Mutagenetix > Incidental Mutation

Incidental Mutation 'R9447:Dhx57'

714032

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: 0.112) question?

Stock #

R9447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80238304-80290476 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80242094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1294 (V1294A)

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: V1241A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: V1241A

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: V1294A

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

SMART Domains

Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: V1294A

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: 99.7%
20x: 99.3%

Validation Efficiency

Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	G	A	4: 126,508,358 (GRCm38)	P572S	probably benign	Het
Akr1c19	A	G	13: 4,246,839 (GRCm38)	I295V	probably benign	Het
Cadps2	A	T	6: 23,323,298 (GRCm38)	I1007K	probably damaging	Het
Ccdc144b	A	G	3: 36,020,046 (GRCm38)	V318A	possibly damaging	Het
Cd47	C	A	16: 49,895,459 (GRCm38)	T196K		Het
Cdrt4	T	G	11: 62,992,592 (GRCm38)	L40R	probably damaging	Het
Cox16	A	T	12: 81,359,335 (GRCm38)	C72S	probably benign	Het
Cyp2t4	G	A	7: 27,155,292 (GRCm38)	V66M	possibly damaging	Het
Daxx	A	T	17: 33,913,273 (GRCm38)	D497V	unknown	Het
Ddt	A	G	10: 75,772,837 (GRCm38)	V62A	possibly damaging	Het
Dnaaf5	A	G	5: 139,177,988 (GRCm38)	T667A	probably damaging	Het
Dnase2a	A	C	8: 84,909,157 (GRCm38)	S90R	probably damaging	Het
Dytn	A	G	1: 63,661,143 (GRCm38)	V276A		Het
Efcab8	G	C	2: 153,804,941 (GRCm38)	V397L	unknown	Het
Enpp6	A	T	8: 47,030,565 (GRCm38)	R131W	probably damaging	Het
Epm2a	C	T	10: 11,448,688 (GRCm38)	H174Y	possibly damaging	Het
Fam160a2	G	T	7: 105,384,948 (GRCm38)	T492K	probably benign	Het
Fcho1	A	G	8: 71,717,269 (GRCm38)	L70P	probably damaging	Het
Fstl4	G	T	11: 53,186,339 (GRCm38)	C641F	probably damaging	Het
Ganab	C	T	19: 8,909,530 (GRCm38)	H327Y	probably damaging	Het
Gkn1	A	G	6: 87,346,340 (GRCm38)	Y164H	probably benign	Het
Gm10037	A	G	13: 67,833,834 (GRCm38)	E55G	probably damaging	Het
Gm5538	T	A	3: 59,743,630 (GRCm38)	Y58N	probably damaging	Het
Hpf1	A	G	8: 60,895,584 (GRCm38)	D111G	probably damaging	Het
Hs3st2	C	T	7: 121,393,066 (GRCm38)	R113W	probably damaging	Het
Ighm	A	T	12: 113,421,174 (GRCm38)	L353Q		Het
Ksr1	T	C	11: 79,018,333 (GRCm38)	D782G	unknown	Het
Lpin2	A	G	17: 71,232,092 (GRCm38)	K392E	unknown	Het
Lrrc4	A	G	6: 28,830,651 (GRCm38)	S322P	probably benign	Het
Man2a1	T	C	17: 64,659,006 (GRCm38)	V313A	possibly damaging	Het
Mctp1	A	G	13: 76,579,785 (GRCm38)	S9G	probably benign	Het
Morn5	A	T	2: 36,079,513 (GRCm38)		probably null	Het
Mroh2b	C	T	15: 4,931,341 (GRCm38)	A795V	probably damaging	Het
Ncf4	G	T	15: 78,262,299 (GRCm38)	A310S	probably benign	Het
Nedd4	T	C	9: 72,670,099 (GRCm38)	Y69H	probably benign	Het
Nras	T	C	3: 103,060,357 (GRCm38)	F90L	possibly damaging	Het
Nrxn3	T	C	12: 89,254,908 (GRCm38)	F113L	probably benign	Het
Ntsr1	C	T	2: 180,538,747 (GRCm38)	T282I	probably benign	Het
Olfr396-ps1	G	T	11: 73,928,791 (GRCm38)	C189F	probably benign	Het
Osbpl3	T	A	6: 50,344,877 (GRCm38)	K310*	probably null	Het
Pcca	T	C	14: 122,616,878 (GRCm38)	V194A	probably damaging	Het
Plekha5	A	G	6: 140,579,466 (GRCm38)	Y900C	probably damaging	Het
Prss22	T	C	17: 23,993,863 (GRCm38)	D300G	probably benign	Het
Rad17	A	T	13: 100,627,611 (GRCm38)	Y451N	probably damaging	Het
Rnf181	G	T	6: 72,360,587 (GRCm38)	T97K	probably damaging	Het
Sec24d	T	C	3: 123,290,513 (GRCm38)	S114P	probably benign	Het
Siae	C	A	9: 37,646,447 (GRCm38)	Q517K	probably benign	Het
Smurf2	A	T	11: 106,824,722 (GRCm38)	V653D	probably damaging	Het
Sqor	C	A	2: 122,807,600 (GRCm38)	T359K	possibly damaging	Het
Taf6	A	T	5: 138,178,708 (GRCm38)	*637R	probably null	Het
Tas2r109	A	C	6: 132,980,307 (GRCm38)	M220R	probably damaging	Het
Tlr2	T	A	3: 83,841,138 (GRCm38)		probably null	Het
Tm7sf3	C	T	6: 146,623,681 (GRCm38)	D89N	possibly damaging	Het
Tmem8b	T	G	4: 43,685,766 (GRCm38)	L179R	probably damaging	Het
Tnfrsf10b	T	A	14: 69,776,159 (GRCm38)	H179Q	probably damaging	Het
Trip11	T	A	12: 101,883,889 (GRCm38)	K1305N	probably damaging	Het
Ttn	C	A	2: 76,752,518 (GRCm38)	W22677L	probably damaging	Het
Ube2r2	T	C	4: 41,190,655 (GRCm38)	V183A	probably damaging	Het
Ubqln4	T	A	3: 88,556,817 (GRCm38)	D208E	probably benign	Het
Ugt2a3	T	A	5: 87,325,471 (GRCm38)	N529I	probably benign	Het
Vmn1r125	A	G	7: 21,272,702 (GRCm38)	N175S	probably benign	Het
Xirp2	T	A	2: 67,508,606 (GRCm38)	I397K	probably damaging	Het
Zfp821	G	A	8: 109,724,184 (GRCm38)	V270I	probably damaging	Het
Zfp935	A	G	13: 62,455,028 (GRCm38)	V99A	possibly damaging	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
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
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'- CGAGCCTTTAAGCAGATCAGCTG -3'
(R):5'- GGTCTGCAAAGCGTTAGATGC -3'

Sequencing Primer
(F):5'- AAGCAGATCAGCTGTCCCTTTAC -3'
(R):5'- TTGATATCTAATAACAACAGCAAGCC -3'

Posted On

2022-06-15