Mutagenetix > Incidental Mutation

Incidental Mutation 'R8748:Dmrt3'

663678

Institutional Source

Beutler Lab

Gene Symbol

Dmrt3

Ensembl Gene

ENSMUSG00000042372

Gene Name

doublesex and mab-3 related transcription factor 3

Synonyms

MMRRC Submission

068591-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.685) question?

Stock #

R8748 (G1)

Quality Score

118.008

Status

Validated

Chromosome

Chromosomal Location

25587665-25601285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25588550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 130 (A130T)

Ref Sequence

ENSEMBL: ENSMUSP00000046812 (fasta)

Gene Model

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

AlphaFold

Q80WT2

Predicted Effect

probably benign
Transcript: ENSMUST00000048935
AA Change: A130T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000046812
Gene: ENSMUSG00000042372
AA Change: A130T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

Validation Efficiency

96% (43/45)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,836,597 (GRCm39)	F1233I	probably damaging	Het
Acte1	T	C	7: 143,445,556 (GRCm39)	I201T	probably benign	Het
Adgrl2	A	G	3: 148,532,026 (GRCm39)	I87T		Het
Atr	A	G	9: 95,814,476 (GRCm39)	M2058V	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Bscl2	A	G	19: 8,825,311 (GRCm39)	E365G	probably damaging	Het
Casd1	T	A	6: 4,608,634 (GRCm39)	S77R	probably benign	Het
Ccdc91	T	C	6: 147,464,194 (GRCm39)	I214T	unknown	Het
Chpf2	T	C	5: 24,796,821 (GRCm39)	F589S	probably damaging	Het
Cmya5	T	A	13: 93,226,229 (GRCm39)	Y2953F	probably damaging	Het
Cts8	A	T	13: 61,397,086 (GRCm39)	V278D	probably damaging	Het
Cyp20a1	T	C	1: 60,392,181 (GRCm39)	V79A	probably damaging	Het
Dach1	G	A	14: 98,065,770 (GRCm39)	Q686*	probably null	Het
Daxx	A	G	17: 34,131,138 (GRCm39)	D355G	probably damaging	Het
Eif4ebp2	A	T	10: 61,270,806 (GRCm39)	H74Q	probably benign	Het
Exoc3l	T	C	8: 106,016,777 (GRCm39)	D679G	probably damaging	Het
Fam13c	T	A	10: 70,378,516 (GRCm39)	W349R	probably damaging	Het
Fat3	A	T	9: 15,834,161 (GRCm39)	Y4144N	possibly damaging	Het
Gm37240	A	G	3: 84,405,045 (GRCm39)	*253Q	probably null	Het
Hycc1	T	A	5: 24,170,320 (GRCm39)	D343V	probably benign	Het
Ildr1	A	C	16: 36,542,734 (GRCm39)	E422A	probably benign	Het
Itsn2	A	G	12: 4,751,337 (GRCm39)	E1309G	probably benign	Het
Macf1	T	C	4: 123,368,068 (GRCm39)	D2231G	probably benign	Het
Mtnr1a	T	C	8: 45,538,675 (GRCm39)	S38P	probably benign	Het
Or10d3	C	G	9: 39,461,711 (GRCm39)	G152A	possibly damaging	Het
Or10d3	C	A	9: 39,461,712 (GRCm39)	G152*	probably null	Het
Or10v5	A	G	19: 11,805,596 (GRCm39)	S265P	probably damaging	Het
Or11h6	G	T	14: 50,880,211 (GRCm39)	V152F	probably benign	Het
Pate13	A	C	9: 35,820,351 (GRCm39)	D25A	probably damaging	Het
Pcdhb9	G	A	18: 37,535,901 (GRCm39)	G632S	probably damaging	Het
Pgr	C	A	9: 8,958,449 (GRCm39)	L819I	probably benign	Het
Phrf1	T	C	7: 140,838,148 (GRCm39)	S448P	unknown	Het
Pip5k1a	A	G	3: 94,971,695 (GRCm39)	M471T	probably benign	Het
Postn	A	G	3: 54,296,760 (GRCm39)	D758G	probably damaging	Het
Rbmyf9	T	A	Y: 3,774,915 (GRCm39)		probably null	Het
Rpl3	T	C	15: 79,963,902 (GRCm39)	I280V	probably benign	Het
Rtl1	A	T	12: 109,561,492 (GRCm39)	S116T	probably benign	Het
Six5	A	G	7: 18,829,049 (GRCm39)	H163R	probably benign	Het
Smarca4	A	G	9: 21,546,164 (GRCm39)	D114G	possibly damaging	Het
Tex46	C	T	4: 136,337,808 (GRCm39)		probably benign	Het
Tmem144	A	G	3: 79,743,539 (GRCm39)		probably null	Het
Unc5d	T	C	8: 29,186,453 (GRCm39)	T617A	probably benign	Het
Vmn1r74	T	A	7: 11,580,903 (GRCm39)	S68T	probably benign	Het
Zfp184	G	A	13: 22,144,217 (GRCm39)	R641Q	probably benign	Het
Zfp583	C	T	7: 6,319,419 (GRCm39)	R531H	probably benign	Het
Zfp764	T	C	7: 127,003,862 (GRCm39)	E423G	possibly 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
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
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'- GCGAGAAGTGCATCCTGATC -3'
(R):5'- CCCACAAACTTGTCTTCGGC -3'

Sequencing Primer
(F):5'- AGTGCATCCTGATCATCGAG -3'
(R):5'- ACAAACTTGTCTTCGGCCTTCC -3'

Posted On

2021-03-08