Mutagenetix > Incidental Mutation

Incidental Mutation 'R8789:Duxf1'

670825

Institutional Source

Beutler Lab

Gene Symbol

Duxf1

Ensembl Gene

ENSMUSG00000058537

Gene Name

double homeobox family member 1

Synonyms

AW822073

MMRRC Submission

068608-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8789 (G1)

Quality Score

153.008

Status

Validated

Chromosome

Chromosomal Location

58058794-58060752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58059426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 443 (N443D)

Ref Sequence

ENSEMBL: ENSMUSP00000144714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075305] [ENSMUST00000204003]

AlphaFold

A0A0N4SUK1

Predicted Effect

probably benign
Transcript: ENSMUST00000075305

SMART Domains

Protein: ENSMUSP00000074777
Gene: ENSMUSG00000058537

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC
low complexity region	109	129	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000204003
AA Change: N443D

SMART Domains

Protein: ENSMUSP00000144714
Gene: ENSMUSG00000058537
AA Change: N443D

Domain	Start	End	E-Value	Type
HOX	2	58	5e-7	SMART
HOX	90	152	4.5e-25	SMART
internal_repeat_1	172	298	5.65e-42	PROSPERO
low complexity region	327	338	N/A	INTRINSIC
low complexity region	394	414	N/A	INTRINSIC
low complexity region	419	434	N/A	INTRINSIC
internal_repeat_1	446	573	5.65e-42	PROSPERO
low complexity region	577	597	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr5	C	T	2: 158,478,604 (GRCm39)	Q485*	probably null	Het
Arsa	C	T	15: 89,358,260 (GRCm39)	V350I	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cav2	T	C	6: 17,281,996 (GRCm39)	Y85H	probably damaging	Het
Ccdc93	A	G	1: 121,424,784 (GRCm39)	Q570R	probably damaging	Het
Cd72	A	G	4: 43,452,628 (GRCm39)	S122P	probably damaging	Het
Cep72	A	G	13: 74,186,367 (GRCm39)	M619T	possibly damaging	Het
Cers5	C	A	15: 99,637,551 (GRCm39)	V233F	possibly damaging	Het
Cntn5	A	G	9: 9,673,292 (GRCm39)	Y803H	probably damaging	Het
Crybg2	T	C	4: 133,801,554 (GRCm39)	S596P	probably benign	Het
Crybg3	T	C	16: 59,375,359 (GRCm39)	E251G	probably benign	Het
Csmd1	T	A	8: 17,266,722 (GRCm39)	N68I	probably damaging	Het
Ctr9	A	G	7: 110,642,933 (GRCm39)	N466S	possibly damaging	Het
Cyp2a4	T	A	7: 26,007,106 (GRCm39)	I71N	probably damaging	Het
Cyp2j11	C	T	4: 96,227,405 (GRCm39)	E204K	probably damaging	Het
Cyp4f39	T	C	17: 32,710,848 (GRCm39)	F469S	probably damaging	Het
Dmac2	T	A	7: 25,320,495 (GRCm39)	S65T	probably benign	Het
Elp3	G	A	14: 65,802,870 (GRCm39)	P243S	probably damaging	Het
Foxg1	T	A	12: 49,432,143 (GRCm39)	M292K	probably benign	Het
Fsip2	T	C	2: 82,815,822 (GRCm39)	S3852P	possibly damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gm10912	A	C	2: 103,897,046 (GRCm39)	K62Q	possibly damaging	Het
Grk2	G	A	19: 4,338,511 (GRCm39)	R474C	probably damaging	Het
Hapstr1	T	C	16: 8,660,865 (GRCm39)	I114T	probably benign	Het
Hoxc12	T	C	15: 102,846,732 (GRCm39)	I208T	probably benign	Het
Htra3	G	A	5: 35,836,602 (GRCm39)	P30L	unknown	Het
Itgal	A	G	7: 126,904,421 (GRCm39)	H298R	probably benign	Het
Klrb1c	A	G	6: 128,761,148 (GRCm39)	S160P	probably benign	Het
Or13c7d	A	T	4: 43,770,793 (GRCm39)	C73S	probably damaging	Het
Or2z9	T	C	8: 72,854,135 (GRCm39)	F177S	probably damaging	Het
Phrf1	T	A	7: 140,836,581 (GRCm39)	D284E	unknown	Het
Pmp2	T	A	3: 10,247,564 (GRCm39)	I42F	probably damaging	Het
Psg26	T	C	7: 18,216,494 (GRCm39)	D115G	probably damaging	Het
Pym1	T	C	10: 128,601,073 (GRCm39)	V32A	probably benign	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Recql4	T	C	15: 76,588,546 (GRCm39)	H1105R	probably benign	Het
Rimkla	T	C	4: 119,349,607 (GRCm39)	Y17C	probably damaging	Het
Rnf207	C	T	4: 152,391,924 (GRCm39)	R623K	probably benign	Het
Ros1	A	T	10: 51,999,328 (GRCm39)	N1207K	probably damaging	Het
Scg2	G	T	1: 79,413,500 (GRCm39)	Q368K	probably benign	Het
Serpinb6e	G	A	13: 34,017,213 (GRCm39)	T269I	probably damaging	Het
Tsc22d2	A	T	3: 58,367,438 (GRCm39)	K663*	probably null	Het
Ubr4	T	A	4: 139,137,494 (GRCm39)	N1026K	possibly damaging	Het
Ubtfl1	A	G	9: 18,321,609 (GRCm39)	D379G	unknown	Het
Vps13d	T	C	4: 144,795,743 (GRCm39)	M3700V		Het
Zscan4-ps3	T	C	7: 11,346,288 (GRCm39)	L136P	probably damaging	Het

Other mutations in Duxf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4131001:Duxf1	UTSW	10	58,060,704 (GRCm39)	missense	possibly damaging	0.71
PIT4131001:Duxf1	UTSW	10	58,060,136 (GRCm39)	unclassified	probably benign
PIT4131001:Duxf1	UTSW	10	58,059,276 (GRCm39)	missense	probably benign	0.00
PIT4142001:Duxf1	UTSW	10	58,060,704 (GRCm39)	missense	possibly damaging	0.71
PIT4142001:Duxf1	UTSW	10	58,060,136 (GRCm39)	unclassified	probably benign
PIT4142001:Duxf1	UTSW	10	58,059,278 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Duxf1	UTSW	10	58,059,276 (GRCm39)	missense	probably benign	0.00
R0583:Duxf1	UTSW	10	58,059,210 (GRCm39)	missense	probably damaging	0.99
R4904:Duxf1	UTSW	10	58,059,309 (GRCm39)	nonsense	probably null
R6377:Duxf1	UTSW	10	58,059,494 (GRCm39)	unclassified	probably benign
R7000:Duxf1	UTSW	10	58,058,814 (GRCm39)	missense	possibly damaging	0.53
R7128:Duxf1	UTSW	10	58,059,479 (GRCm39)	missense	unknown
R7701:Duxf1	UTSW	10	58,058,885 (GRCm39)	missense	possibly damaging	0.71
R8062:Duxf1	UTSW	10	58,059,632 (GRCm39)	missense	unknown
R9040:Duxf1	UTSW	10	58,059,608 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCGTCCAGCAGTTGATCAAGG -3'
(R):5'- GCCAACCTTCTGCAGAGAATC -3'

Sequencing Primer
(F):5'- AGTTCCAGAGGGCCTGTG -3'
(R):5'- TTCTGCAGAGAATCCCAGC -3'

Posted On

2021-04-30