Mutagenetix > Incidental Mutation

Incidental Mutation 'R0021:Duxf4'

19016

Institutional Source

Beutler Lab

Gene Symbol

Duxf4

Ensembl Gene

ENSMUSG00000075045

Gene Name

double homeobox family member 4

Synonyms

Gm4981, Duxf4

MMRRC Submission

038316-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R0021 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58070670-58072482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58071385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 276 (E276D)

Ref Sequence

ENSEMBL: ENSMUSP00000097314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099726] [ENSMUST00000174056] [ENSMUST00000176875]

AlphaFold

Q3ULJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000099726
AA Change: E276D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097314
Gene: ENSMUSG00000075045
AA Change: E276D

Domain	Start	End	E-Value	Type
HOX	5	67	1.13e-11	SMART
internal_repeat_1	86	173	1.27e-12	PROSPERO
internal_repeat_1	177	264	1.27e-12	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000174056

SMART Domains

Protein: ENSMUSP00000133909
Gene: ENSMUSG00000075046

Domain	Start	End	E-Value	Type
HOX	2	58	9.45e-5	SMART
HOX	90	152	8.78e-23	SMART
internal_repeat_1	172	207	1.03e-13	PROSPERO
low complexity region	236	247	N/A	INTRINSIC
internal_repeat_1	264	299	1.03e-13	PROSPERO
low complexity region	303	323	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176240

Predicted Effect

probably benign
Transcript: ENSMUST00000176875

SMART Domains

Protein: ENSMUSP00000145004
Gene: ENSMUSG00000075046

Domain	Start	End	E-Value	Type
HOX	18	80	1.7e-13	SMART
HOX	112	174	1.6e-23	SMART
internal_repeat_1	194	371	2.07e-48	PROSPERO
low complexity region	416	436	N/A	INTRINSIC
low complexity region	441	456	N/A	INTRINSIC
internal_repeat_1	468	645	2.07e-48	PROSPERO

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 84.2%
3x: 78.9%
10x: 65.7%
20x: 50.3%

Validation Efficiency

96% (92/96)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310016G11Rik	A	G	7: 44,326,620 (GRCm39)		noncoding transcript	Het
Abcc5	T	A	16: 20,197,411 (GRCm39)	K647*	probably null	Het
Aplp1	A	G	7: 30,135,241 (GRCm39)		probably benign	Het
Baiap3	T	C	17: 25,462,643 (GRCm39)	E1105G	probably damaging	Het
Brinp3	T	G	1: 146,777,189 (GRCm39)	S545R	probably benign	Het
Btnl1	A	G	17: 34,598,468 (GRCm39)	E28G	probably benign	Het
Ccr6	G	A	17: 8,475,598 (GRCm39)	V268M	possibly damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
D630045J12Rik	G	A	6: 38,160,902 (GRCm39)	Q1081*	probably null	Het
Dhx15	T	C	5: 52,314,830 (GRCm39)	T626A	probably damaging	Het
Dhx36	T	C	3: 62,385,016 (GRCm39)	I699V	possibly damaging	Het
Dnah9	A	G	11: 65,860,805 (GRCm39)	I2855T	probably benign	Het
Fsip2	T	A	2: 82,830,201 (GRCm39)		probably benign	Het
Galnt11	A	T	5: 25,453,855 (GRCm39)	D27V	probably damaging	Het
Gm5134	T	A	10: 75,829,718 (GRCm39)	C335S	probably damaging	Het
Hdhd2	A	T	18: 77,058,311 (GRCm39)	K227N	probably damaging	Het
Itgb4	A	T	11: 115,870,453 (GRCm39)	D94V	possibly damaging	Het
Krtcap3	A	G	5: 31,410,303 (GRCm39)	H227R	probably benign	Het
Macf1	T	C	4: 123,369,370 (GRCm39)	H232R	probably damaging	Het
Map2k4	A	G	11: 65,603,110 (GRCm39)	I174T	probably damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mcm9	G	A	10: 53,413,997 (GRCm39)	T1099I	possibly damaging	Het
Nkapd1	A	C	9: 50,521,725 (GRCm39)	D65E	probably damaging	Het
Nqo2	T	C	13: 34,165,490 (GRCm39)	I129T	probably benign	Het
Pdgfrb	T	A	18: 61,197,998 (GRCm39)		probably benign	Het
Phf7	C	T	14: 30,960,443 (GRCm39)		probably benign	Het
Plac8	T	A	5: 100,704,434 (GRCm39)	T88S	probably benign	Het
Prss52	T	G	14: 64,341,857 (GRCm39)	V16G	probably benign	Het
Psmb9	G	A	17: 34,403,277 (GRCm39)	A80V	probably benign	Het
Ptprk	T	A	10: 28,468,891 (GRCm39)	V1425E	probably damaging	Het
Scart2	G	A	7: 139,876,310 (GRCm39)	R594H	probably benign	Het
Scn2a	T	C	2: 65,500,859 (GRCm39)	V7A	possibly damaging	Het
Serpini1	T	C	3: 75,526,620 (GRCm39)	Y291H	probably damaging	Het
Setd6	A	G	8: 96,443,293 (GRCm39)	K19E	probably damaging	Het
Siah2	T	C	3: 58,583,713 (GRCm39)	H191R	probably benign	Het
Slc27a2	T	C	2: 126,409,806 (GRCm39)		probably benign	Het
Tbc1d10a	T	C	11: 4,163,680 (GRCm39)	C277R	probably damaging	Het
Trim55	A	C	3: 19,698,866 (GRCm39)	M32L	probably benign	Het
Unc5b	T	C	10: 60,614,698 (GRCm39)	T200A	probably benign	Het
Wrap53	A	T	11: 69,454,712 (GRCm39)	M219K	probably damaging	Het
Zfp790	G	A	7: 29,525,113 (GRCm39)		probably benign	Het

Other mutations in Duxf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Duxf4	APN	10	58,072,211 (GRCm39)	start codon destroyed	probably null	0.06
IGL03267:Duxf4	APN	10	58,071,609 (GRCm39)	missense	probably damaging	0.97
R0582:Duxf4	UTSW	10	58,071,508 (GRCm39)	missense	probably benign	0.04
R1857:Duxf4	UTSW	10	58,071,602 (GRCm39)	missense	probably benign	0.00
R1858:Duxf4	UTSW	10	58,071,602 (GRCm39)	missense	probably benign	0.00
R1859:Duxf4	UTSW	10	58,071,602 (GRCm39)	missense	probably benign	0.00
R1984:Duxf4	UTSW	10	58,071,785 (GRCm39)	missense	possibly damaging	0.53
R2115:Duxf4	UTSW	10	58,072,073 (GRCm39)	missense	possibly damaging	0.92
R2197:Duxf4	UTSW	10	58,072,158 (GRCm39)	missense	possibly damaging	0.71
R3014:Duxf4	UTSW	10	58,071,356 (GRCm39)	missense	possibly damaging	0.86
R3412:Duxf4	UTSW	10	58,072,175 (GRCm39)	missense	possibly damaging	0.93
R3983:Duxf4	UTSW	10	58,071,623 (GRCm39)	missense	possibly damaging	0.95
R4500:Duxf4	UTSW	10	58,071,528 (GRCm39)	missense	possibly damaging	0.70
R4939:Duxf4	UTSW	10	58,071,425 (GRCm39)	missense	probably benign	0.33
R5460:Duxf4	UTSW	10	58,071,717 (GRCm39)	missense	possibly damaging	0.94
R6228:Duxf4	UTSW	10	58,071,344 (GRCm39)	missense	probably benign	0.02
R8282:Duxf4	UTSW	10	58,072,148 (GRCm39)	missense	possibly damaging	0.71
R9051:Duxf4	UTSW	10	58,071,711 (GRCm39)	missense	probably damaging	1.00
R9571:Duxf4	UTSW	10	58,071,378 (GRCm39)	missense	possibly damaging	0.86
Z1088:Duxf4	UTSW	10	58,071,733 (GRCm39)	missense	probably damaging	0.97

Posted On

2013-03-25