Mutagenetix > Incidental Mutation

Incidental Mutation 'R7961:Dmrt3'

650141

Institutional Source

Beutler Lab

Gene Symbol

Dmrt3

Ensembl Gene

ENSMUSG00000042372

Gene Name

doublesex and mab-3 related transcription factor 3

Synonyms

MMRRC Submission

046005-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.685) question?

Stock #

R7961 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25587665-25601285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25588272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 37 (V37A)

Ref Sequence

ENSEMBL: ENSMUSP00000046812 (fasta)

Gene Model

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

AlphaFold

Q80WT2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048935
AA Change: V37A

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046812
Gene: ENSMUSG00000042372
AA Change: V37A

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,878,870 (GRCm39)	N751K	possibly damaging	Het
Bckdha	G	A	7: 25,330,903 (GRCm39)	R288W	probably damaging	Het
Ccng1	G	A	11: 40,642,096 (GRCm39)	H229Y	probably benign	Het
Cenpn	C	A	8: 117,663,976 (GRCm39)	T256N	probably benign	Het
Ciart	A	G	3: 95,788,629 (GRCm39)	V70A	possibly damaging	Het
Clcc1	A	G	3: 108,568,774 (GRCm39)	N36S	probably damaging	Het
Cntnap1	G	A	11: 101,069,121 (GRCm39)	A192T	probably benign	Het
Dmrt1	T	A	19: 25,523,245 (GRCm39)	S199T	possibly damaging	Het
Dock1	T	A	7: 134,346,786 (GRCm39)	D239E	possibly damaging	Het
Dyrk3	A	G	1: 131,063,995 (GRCm39)		probably null	Het
Engase	A	G	11: 118,377,686 (GRCm39)	D571G	possibly damaging	Het
Gm45871	C	T	18: 90,609,883 (GRCm39)	H374Y	probably damaging	Het
Icam5	T	C	9: 20,950,051 (GRCm39)	V870A	possibly damaging	Het
Idh2	T	C	7: 79,748,001 (GRCm39)	H233R	probably benign	Het
Kcna5	A	G	6: 126,510,517 (GRCm39)	L537P	probably benign	Het
Krt71	T	C	15: 101,643,877 (GRCm39)	I454V	probably damaging	Het
Krtap5-4	C	T	7: 141,857,671 (GRCm39)	Q114*	probably null	Het
Loxl3	T	C	6: 83,027,790 (GRCm39)	F734S	possibly damaging	Het
Lpcat1	C	T	13: 73,659,498 (GRCm39)	T420I	probably damaging	Het
Mia2	T	A	12: 59,206,425 (GRCm39)		probably null	Het
Neurod4	A	T	10: 130,106,356 (GRCm39)	V306D	possibly damaging	Het
Nkiras2	A	T	11: 100,510,628 (GRCm39)		probably benign	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Ntrk3	T	A	7: 78,103,076 (GRCm39)	D408V	probably benign	Het
Nubpl	T	A	12: 52,228,080 (GRCm39)	L168*	probably null	Het
Odf1	A	G	15: 38,226,840 (GRCm39)	I247V	unknown	Het
Or4c35	A	G	2: 89,808,131 (GRCm39)	Q3R	probably benign	Het
Or4k48	G	A	2: 111,476,282 (GRCm39)	S20F	probably damaging	Het
Or5d41	C	A	2: 88,055,033 (GRCm39)	M114I	possibly damaging	Het
Pcsk1	T	C	13: 75,274,958 (GRCm39)	S516P	probably benign	Het
Pikfyve	A	G	1: 65,294,293 (GRCm39)	D1411G	probably damaging	Het
Polm	T	C	11: 5,780,155 (GRCm39)	D294G	possibly damaging	Het
Ppcs	A	T	4: 119,276,262 (GRCm39)	S281T	probably benign	Het
Pramel34	T	C	5: 93,784,543 (GRCm39)	D307G	probably damaging	Het
Pspc1	G	A	14: 57,009,304 (GRCm39)	Q177*	probably null	Het
Rbm33	G	A	5: 28,599,606 (GRCm39)	G185R		Het
Satb2	A	G	1: 56,910,917 (GRCm39)	S243P	probably benign	Het
Serinc5	T	C	13: 92,797,699 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,430,510 (GRCm39)	T292A	probably damaging	Het
Smad3	G	A	9: 63,557,564 (GRCm39)	R420C	possibly damaging	Het
Sntg1	C	T	1: 8,433,794 (GRCm39)	V486I	probably damaging	Het
Tep1	A	G	14: 51,061,687 (GRCm39)	S2610P	possibly damaging	Het
Tmem200a	A	G	10: 25,869,904 (GRCm39)	S122P	probably damaging	Het
Tnks2	T	A	19: 36,829,901 (GRCm39)	M194K	probably benign	Het
Trav14d-3-dv8	A	C	14: 53,316,224 (GRCm39)	Q28P	probably damaging	Het
Trpm5	T	C	7: 142,634,106 (GRCm39)	E700G	probably benign	Het
Ubqln3	T	A	7: 103,791,797 (GRCm39)	I98L	probably benign	Het
Usp25	A	G	16: 76,856,150 (GRCm39)	I248V	probably damaging	Het
Vmn1r28	T	C	6: 58,242,178 (GRCm39)	V7A	probably benign	Het
Zfp60	G	A	7: 27,447,881 (GRCm39)	G183D	probably benign	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
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'- GACCGTAATCAGAGCTCTCC -3'
(R):5'- TCACCTGGTTTAGCAAGCTG -3'

Sequencing Primer
(F):5'- TCCTTGCAGCTGCTGGAGAG -3'
(R):5'- CTTGGGAGGCTGGCGAC -3'

Posted On

2020-09-15