Mutagenetix > Incidental Mutation

Incidental Mutation 'R3412:Duxf4'

267776

Institutional Source

Beutler Lab

Gene Symbol

Duxf4

Ensembl Gene

ENSMUSG00000075045

Gene Name

double homeobox family member 4

Synonyms

Gm4981, Duxf4

MMRRC Submission

040630-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R3412 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58070670-58072482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58072175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 13 (T13I)

Ref Sequence

ENSEMBL: ENSMUSP00000097314 (fasta)

Gene Model

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

AlphaFold

Q3ULJ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099726
AA Change: T13I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097314
Gene: ENSMUSG00000075045
AA Change: T13I

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	T	C	13: 8,802,654 (GRCm39)	F643S	probably damaging	Het
Ap2a2	T	A	7: 141,178,689 (GRCm39)	N105K	probably benign	Het
Arhgef5	A	G	6: 43,250,724 (GRCm39)	I492V	probably benign	Het
Atp8b4	C	A	2: 126,217,677 (GRCm39)	W613L	probably damaging	Het
Ccdc162	T	C	10: 41,415,545 (GRCm39)		probably benign	Het
Esp24	T	A	17: 39,349,207 (GRCm39)	I11N	possibly damaging	Het
Exoc4	A	G	6: 33,242,910 (GRCm39)	E41G	probably damaging	Het
Eya1	T	A	1: 14,344,433 (GRCm39)		probably null	Het
Gckr	T	A	5: 31,458,211 (GRCm39)		probably null	Het
Gria4	T	A	9: 4,513,278 (GRCm39)	D277V	probably benign	Het
Il18r1	A	T	1: 40,530,227 (GRCm39)	D318V	probably damaging	Het
Il4i1	T	C	7: 44,486,082 (GRCm39)	L22P	probably damaging	Het
Inpp5d	C	A	1: 87,595,779 (GRCm39)	T175N	possibly damaging	Het
Krt90	T	A	15: 101,469,028 (GRCm39)	L171F	probably damaging	Het
Mthfd1	A	G	12: 76,350,523 (GRCm39)		probably null	Het
Or51f5	T	C	7: 102,423,962 (GRCm39)	L77P	possibly damaging	Het
Or51q1	T	C	7: 103,628,609 (GRCm39)	L76P	probably damaging	Het
Or5an1c	T	C	19: 12,218,954 (GRCm39)	I24V	probably benign	Het
Or6c1b	A	T	10: 129,273,176 (GRCm39)	D165V	probably damaging	Het
Pla2g4f	T	C	2: 120,133,587 (GRCm39)	S579G	probably benign	Het
Ppef2	T	G	5: 92,376,581 (GRCm39)	S649R	probably damaging	Het
Prss43	G	C	9: 110,658,532 (GRCm39)	Q277H	probably damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,137,371 (GRCm39)		probably benign	Het
Rusc2	T	G	4: 43,415,935 (GRCm39)	S414A	probably damaging	Het
Sez6l	A	G	5: 112,623,227 (GRCm39)	L108P	possibly damaging	Het
Slc12a5	A	G	2: 164,810,351 (GRCm39)	D10G	probably benign	Het
Slc1a7	A	G	4: 107,868,191 (GRCm39)	E497G	probably benign	Het
Sos1	T	C	17: 80,714,146 (GRCm39)	D1108G	probably benign	Het
Spag8	T	A	4: 43,651,606 (GRCm39)	S423C	probably damaging	Het
Tacc2	A	G	7: 130,336,724 (GRCm39)	T2369A	probably benign	Het
Taok2	T	C	7: 126,470,030 (GRCm39)	I933V	possibly damaging	Het
Tex9	C	A	9: 72,385,040 (GRCm39)	Q265H	possibly damaging	Het
Trim69	T	C	2: 122,009,125 (GRCm39)	V395A	probably benign	Het
Tusc1	C	A	4: 93,223,173 (GRCm39)	R162L	probably damaging	Het
Ubr5	T	C	15: 38,004,479 (GRCm39)		probably benign	Het
Utp25	A	C	1: 192,810,810 (GRCm39)	S64R	possibly damaging	Het
Zfyve28	C	T	5: 34,357,028 (GRCm39)	M723I	probably benign	Het
Zmynd8	A	T	2: 165,657,371 (GRCm39)	M533K	probably damaging	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
R0021:Duxf4	UTSW	10	58,071,385 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGCAAGTCTTGATCTTGAGCTGTG -3'
(R):5'- ACTTTTAGGTGCTGGCCAGG -3'

Sequencing Primer
(F):5'- ATCTTGAGCTGTGGGCCTGC -3'
(R):5'- TGCTGGCCAGGCAAATG -3'

Posted On

2015-02-18