Mutagenetix > Incidental Mutation

Incidental Mutation 'R0050:Dmrt3'

64267

Institutional Source

Beutler Lab

Gene Symbol

Dmrt3

Ensembl Gene

ENSMUSG00000042372

Gene Name

doublesex and mab-3 related transcription factor 3

Synonyms

MMRRC Submission

038344-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.630) question?

Stock #

R0050 (G1)

Quality Score

107

Status

Validated

Chromosome

Chromosomal Location

25587665-25601285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25599953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 266 (P266H)

Ref Sequence

ENSEMBL: ENSMUSP00000046812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048935]

AlphaFold

Q80WT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000048935
AA Change: P266H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046812
Gene: ENSMUSG00000042372
AA Change: P266H

Domain	Start	End	E-Value	Type
DM	25	78	3.95e-29	SMART
low complexity region	88	137	N/A	INTRINSIC
Pfam:DMA	255	291	2.3e-19	PFAM
low complexity region	457	470	N/A	INTRINSIC

Meta Mutation Damage Score

0.7999

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (54/55)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele die from starvation at 2 months of age due to dental malocclusions; some males exhibit defects in sexual development. Mutant mice also exhibit locomotor abnormalities. Mice homozygous for a different knock-out allele exhibit decreased neocortex area. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	T	11: 110,036,417 (GRCm39)	C564Y	probably damaging	Het
Adamts2	T	C	11: 50,666,222 (GRCm39)	V406A	probably damaging	Het
Ankar	T	A	1: 72,695,323 (GRCm39)	E1093D	probably damaging	Het
Arhgef38	C	A	3: 132,837,957 (GRCm39)	D75Y	probably damaging	Het
Atg4b	T	A	1: 93,715,440 (GRCm39)		probably benign	Het
Cadm2	A	G	16: 66,750,154 (GRCm39)		probably benign	Het
Ces2c	T	A	8: 105,574,831 (GRCm39)	M96K	probably benign	Het
Dock9	A	G	14: 121,844,637 (GRCm39)	V1124A	probably benign	Het
Edem1	T	C	6: 108,805,809 (GRCm39)	F37L	possibly damaging	Het
Ermp1	C	A	19: 29,606,184 (GRCm39)	A190S	probably damaging	Het
Gm10267	T	A	18: 44,289,520 (GRCm39)		probably benign	Het
Golga2	T	A	2: 32,182,139 (GRCm39)	V29D	probably damaging	Het
Gprc6a	T	A	10: 51,491,485 (GRCm39)	M755L	probably damaging	Het
H1f8	G	T	6: 115,924,729 (GRCm39)	K78N	probably damaging	Het
Lama3	T	A	18: 12,537,160 (GRCm39)	H268Q	probably damaging	Het
Lrriq1	A	G	10: 102,904,792 (GRCm39)	V1614A	probably damaging	Het
Oaz2	A	G	9: 65,595,084 (GRCm39)	E61G	probably damaging	Het
Pear1	G	T	3: 87,663,294 (GRCm39)	Y441*	probably null	Het
Pkhd1l1	A	T	15: 44,437,203 (GRCm39)	T3493S	possibly damaging	Het
Plekhg5	T	C	4: 152,192,545 (GRCm39)		probably null	Het
Ppp3cb	A	G	14: 20,581,820 (GRCm39)	V65A	possibly damaging	Het
Rheb	A	T	5: 25,022,832 (GRCm39)		probably benign	Het
Ros1	G	A	10: 51,977,899 (GRCm39)	T1449M	probably damaging	Het
Septin4	T	C	11: 87,458,172 (GRCm39)	L182S	probably damaging	Het
Slc6a12	T	C	6: 121,337,378 (GRCm39)		probably benign	Het
Stx2	A	G	5: 129,076,572 (GRCm39)		probably null	Het
Tnxb	T	A	17: 34,892,299 (GRCm39)	D764E	probably damaging	Het
Trmt2a	A	T	16: 18,068,707 (GRCm39)	E234D	probably damaging	Het

Other mutations in Dmrt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Dmrt3	APN	19	25,599,947 (GRCm39)	missense	probably damaging	1.00
IGL03088:Dmrt3	APN	19	25,600,411 (GRCm39)	missense	probably benign	0.08
R0050:Dmrt3	UTSW	19	25,599,953 (GRCm39)	missense	probably damaging	1.00
R7156:Dmrt3	UTSW	19	25,588,317 (GRCm39)	missense	probably damaging	0.98
R7961:Dmrt3	UTSW	19	25,588,272 (GRCm39)	missense	possibly damaging	0.82
R8009:Dmrt3	UTSW	19	25,588,272 (GRCm39)	missense	possibly damaging	0.82
R8748:Dmrt3	UTSW	19	25,588,550 (GRCm39)	missense	probably benign	0.00
R8749:Dmrt3	UTSW	19	25,588,550 (GRCm39)	missense	probably benign	0.00
R8750:Dmrt3	UTSW	19	25,588,550 (GRCm39)	missense	probably benign	0.00
R9747:Dmrt3	UTSW	19	25,600,003 (GRCm39)	missense	probably damaging	1.00
X0028:Dmrt3	UTSW	19	25,600,136 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTATGACCCATTGAGCCAAACTCCC -3'
(R):5'- CGTGTGTTCAAAGATATGGCCGC -3'

Sequencing Primer
(F):5'- AGGCTTGACTCTGAGCACATC -3'
(R):5'- TGTTCAAAGATATGGCCGCTAGAG -3'

Posted On

2013-08-06