Mutagenetix > Incidental Mutation

Incidental Mutation 'R0325:Dmrt1'

25825

Institutional Source

Beutler Lab

Gene Symbol

Dmrt1

Ensembl Gene

ENSMUSG00000024837

Gene Name

doublesex and mab-3 related transcription factor 1

Synonyms

MMRRC Submission

038535-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.674) question?

Stock #

R0325 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25483070-25581692 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25523371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 241 (E241K)

Ref Sequence

ENSEMBL: ENSMUSP00000025755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025755] [ENSMUST00000087525]

AlphaFold

Q9QZ59

Predicted Effect

probably benign
Transcript: ENSMUST00000025755
AA Change: E241K

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025755
Gene: ENSMUSG00000024837
AA Change: E241K

Domain	Start	End	E-Value	Type
low complexity region	17	68	N/A	INTRINSIC
DM	70	123	1.51e-25	SMART
Pfam:Dmrt1	128	200	2.3e-37	PFAM
low complexity region	219	226	N/A	INTRINSIC
low complexity region	326	346	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000087525

SMART Domains

Protein: ENSMUSP00000084803
Gene: ENSMUSG00000024837

Domain	Start	End	E-Value	Type
low complexity region	17	68	N/A	INTRINSIC
DM	70	123	1.51e-25	SMART
Pfam:Dmrt1	128	185	1.2e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160814

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is found in a cluster with two other members of the gene family, having in common a zinc finger-like DNA-binding motif (DM domain). The DM domain is an ancient, conserved component of the vertebrate sex-determining pathway that is also a key regulator of male development in flies and nematodes. This gene exhibits a gonad-specific and sexually dimorphic expression pattern. Defective testicular development and XY feminization occur when this gene is hemizygous. [provided by RefSeq, Jul 2008]
PHENOTYPE: Males homozygous for null mutations are sterile and exhibit a complete loss of germ cells between postnatal days 7-14, disorganized seminiferous tubules, and degeneration of Leydig cells. Females are normal and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	C	4: 144,282,081 (GRCm39)	Y237C	probably damaging	Het
Adcyap1	A	G	17: 93,510,260 (GRCm39)	D96G	probably benign	Het
Adgrv1	C	T	13: 81,688,134 (GRCm39)	V1749M	probably damaging	Het
Adnp2	A	T	18: 80,173,868 (GRCm39)	N180K	probably benign	Het
Ahdc1	G	T	4: 132,790,030 (GRCm39)	A424S	unknown	Het
Alpk3	G	A	7: 80,717,701 (GRCm39)	R86H	possibly damaging	Het
Atf7ip	A	C	6: 136,537,987 (GRCm39)	T49P	possibly damaging	Het
Atp7b	G	A	8: 22,518,467 (GRCm39)	L124F	probably benign	Het
Bub1	A	T	2: 127,643,314 (GRCm39)	L1010*	probably null	Het
Cd300c	C	A	11: 114,850,411 (GRCm39)	E131*	probably null	Het
Cep135	A	G	5: 76,763,590 (GRCm39)	K527E	probably damaging	Het
Cfd	G	T	10: 79,727,592 (GRCm39)	E89*	probably null	Het
Crb1	A	C	1: 139,168,904 (GRCm39)	C871W	probably damaging	Het
D6Ertd527e	A	T	6: 87,088,277 (GRCm39)	S147C	unknown	Het
Ddx60	A	T	8: 62,436,889 (GRCm39)	E946D	probably benign	Het
Dnah11	C	G	12: 117,976,074 (GRCm39)	V2782L	probably benign	Het
Dzip1	T	C	14: 119,146,969 (GRCm39)	I313M	probably damaging	Het
Egln3	T	C	12: 54,250,298 (GRCm39)	E17G	probably benign	Het
Eif3d	A	G	15: 77,852,420 (GRCm39)	V42A	probably damaging	Het
Elapor1	A	G	3: 108,368,567 (GRCm39)	L808P	probably damaging	Het
Eogt	C	A	6: 97,090,916 (GRCm39)	G408W	probably damaging	Het
Fip1l1	T	A	5: 74,756,503 (GRCm39)	N498K	probably damaging	Het
Fmn2	T	A	1: 174,437,520 (GRCm39)		probably null	Het
Fndc3b	T	C	3: 27,521,579 (GRCm39)	E532G	probably damaging	Het
Gabrb3	T	C	7: 57,415,278 (GRCm39)	L116P	probably damaging	Het
Galnt6	A	T	15: 100,591,352 (GRCm39)		probably null	Het
Glmp	G	A	3: 88,232,391 (GRCm39)	M1I	probably null	Het
Gm5478	T	C	15: 101,552,761 (GRCm39)	D79G	probably damaging	Het
Gnb1	T	G	4: 155,636,140 (GRCm39)	D153E	probably benign	Het
Grik2	T	C	10: 49,116,821 (GRCm39)	I86V	probably damaging	Het
Hdac3	C	T	18: 38,074,005 (GRCm39)		probably null	Het
Hdgfl2	G	A	17: 56,406,181 (GRCm39)	R523H	possibly damaging	Het
Ifngr1	T	A	10: 19,473,180 (GRCm39)	N43K	probably damaging	Het
Iqgap1	A	G	7: 80,401,678 (GRCm39)	W476R	probably benign	Het
Jag1	A	G	2: 136,937,365 (GRCm39)		probably null	Het
Kars1	T	C	8: 112,734,848 (GRCm39)	D46G	probably benign	Het
Kcnd2	A	G	6: 21,216,682 (GRCm39)	I129V	probably damaging	Het
Lama3	A	C	18: 12,615,183 (GRCm39)	D1369A	probably damaging	Het
Lars1	A	T	18: 42,383,967 (GRCm39)	V76E	possibly damaging	Het
Lgals9	T	C	11: 78,854,274 (GRCm39)	I337V	probably damaging	Het
Lrp1b	T	C	2: 40,741,723 (GRCm39)	D3068G	probably damaging	Het
Med12l	A	G	3: 58,984,480 (GRCm39)	T462A	possibly damaging	Het
Megf9	T	A	4: 70,374,178 (GRCm39)	D286V	probably damaging	Het
Meox1	T	A	11: 101,770,227 (GRCm39)	S167C	probably damaging	Het
Mier2	C	T	10: 79,378,430 (GRCm39)		probably null	Het
Mrps2	C	A	2: 28,359,791 (GRCm39)	T216K	probably damaging	Het
Mto1	A	T	9: 78,360,286 (GRCm39)	D258V	probably damaging	Het
Mug1	A	T	6: 121,826,801 (GRCm39)	H208L	probably benign	Het
Myo15b	T	A	11: 115,775,091 (GRCm39)	I751N	probably damaging	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Ndrg4	T	A	8: 96,437,563 (GRCm39)	M17K	probably damaging	Het
Nfrkb	T	G	9: 31,325,476 (GRCm39)	M973R	probably benign	Het
Nxph4	C	T	10: 127,362,780 (GRCm39)	R37H	probably damaging	Het
Oas1e	A	G	5: 120,933,460 (GRCm39)	I35T	probably damaging	Het
Oc90	C	T	15: 65,769,514 (GRCm39)		probably null	Het
Or4b12	A	T	2: 90,095,880 (GRCm39)	M298K	probably null	Het
Or52d3	A	T	7: 104,229,567 (GRCm39)	D238V	probably damaging	Het
Or8j3	G	A	2: 86,029,055 (GRCm39)	L14F	possibly damaging	Het
Or8k30	A	T	2: 86,339,549 (GRCm39)	T249S	probably benign	Het
Or9a7	A	T	6: 40,521,057 (GRCm39)	N285K	possibly damaging	Het
Papola	T	A	12: 105,773,452 (GRCm39)	I157N	probably damaging	Het
Pcyox1l	G	C	18: 61,830,964 (GRCm39)	P303A	possibly damaging	Het
Pkdrej	T	C	15: 85,703,752 (GRCm39)	N728S	probably benign	Het
Pkp4	A	G	2: 59,148,873 (GRCm39)	D542G	probably damaging	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Poln	C	T	5: 34,307,108 (GRCm39)	R31H	probably benign	Het
Ppp3ca	G	A	3: 136,640,900 (GRCm39)	A484T	probably benign	Het
Prag1	A	G	8: 36,570,958 (GRCm39)	T514A	probably benign	Het
Pramel28	A	T	4: 143,693,310 (GRCm39)	V56E	probably damaging	Het
Prex2	G	A	1: 11,270,281 (GRCm39)		probably null	Het
Prrc2b	G	T	2: 32,089,103 (GRCm39)	W403L	probably damaging	Het
Pter	A	T	2: 13,005,748 (GRCm39)	K307M	probably damaging	Het
Ptpn5	G	A	7: 46,740,506 (GRCm39)	S99L	probably benign	Het
Ptpn5	A	C	7: 46,740,507 (GRCm39)	S99A	probably benign	Het
Rpap1	A	C	2: 119,602,321 (GRCm39)	H674Q	probably benign	Het
Rph3a	A	T	5: 121,081,127 (GRCm39)	D623E	probably benign	Het
Sdr9c7	G	T	10: 127,734,588 (GRCm39)	E25D	probably benign	Het
Septin9	T	G	11: 117,247,458 (GRCm39)	V479G	probably damaging	Het
Sgo2a	A	G	1: 58,055,856 (GRCm39)	D680G	probably benign	Het
Sgo2b	A	T	8: 64,381,410 (GRCm39)	I474N	probably benign	Het
Sgsm1	A	T	5: 113,436,701 (GRCm39)	I43N	probably damaging	Het
Shprh	G	A	10: 11,045,853 (GRCm39)	M891I	probably benign	Het
Skic2	A	T	17: 35,063,791 (GRCm39)	Y551N	possibly damaging	Het
Slc12a9	A	G	5: 137,321,108 (GRCm39)	M469T	probably damaging	Het
Slc4a2	A	T	5: 24,640,941 (GRCm39)	I747F	probably damaging	Het
Slc7a6	T	A	8: 106,921,149 (GRCm39)	N373K	probably damaging	Het
Slc7a6os	T	C	8: 106,927,688 (GRCm39)	D296G	probably benign	Het
Sncaip	A	G	18: 53,038,881 (GRCm39)	T120A	probably damaging	Het
Sorcs1	G	C	19: 50,301,480 (GRCm39)		probably null	Het
Spata16	A	G	3: 26,721,605 (GRCm39)	E42G	probably damaging	Het
Spata31e2	G	T	1: 26,724,347 (GRCm39)	Q278K	possibly damaging	Het
Syne2	A	T	12: 76,009,415 (GRCm39)	M2440L	probably benign	Het
Taf7l2	T	C	10: 115,949,474 (GRCm39)	I17M	probably damaging	Het
Tead2	A	G	7: 44,875,179 (GRCm39)	E232G	probably damaging	Het
Tmf1	T	G	6: 97,153,465 (GRCm39)	T203P	possibly damaging	Het
Trrap	C	A	5: 144,753,205 (GRCm39)	H1843Q	probably benign	Het
Unc79	C	A	12: 103,137,903 (GRCm39)	Q2314K	probably damaging	Het
Unc80	G	T	1: 66,550,040 (GRCm39)	G766V	probably damaging	Het
Vmn1r217	A	G	13: 23,298,764 (GRCm39)	L46P	probably damaging	Het
Vmn2r80	A	T	10: 78,984,773 (GRCm39)	I42F	possibly damaging	Het
Vwa5a	T	C	9: 38,639,961 (GRCm39)	V403A	probably damaging	Het
Zfp42	T	C	8: 43,748,988 (GRCm39)	E171G	probably damaging	Het
Zfp64	A	T	2: 168,767,960 (GRCm39)	S551T	probably benign	Het

Other mutations in Dmrt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Dmrt1	APN	19	25,580,638 (GRCm39)	missense	probably damaging	0.98
IGL03167:Dmrt1	APN	19	25,523,257 (GRCm39)	missense	possibly damaging	0.66
R0410:Dmrt1	UTSW	19	25,483,467 (GRCm39)	missense	probably damaging	1.00
R1834:Dmrt1	UTSW	19	25,487,063 (GRCm39)	missense	probably damaging	0.99
R2830:Dmrt1	UTSW	19	25,580,658 (GRCm39)	missense	probably benign	0.01
R4696:Dmrt1	UTSW	19	25,580,674 (GRCm39)	missense	possibly damaging	0.88
R4869:Dmrt1	UTSW	19	25,483,219 (GRCm39)	start codon destroyed	probably null	0.02
R4870:Dmrt1	UTSW	19	25,483,219 (GRCm39)	start codon destroyed	probably null	0.02
R5477:Dmrt1	UTSW	19	25,487,164 (GRCm39)	missense	probably benign	0.01
R5989:Dmrt1	UTSW	19	25,523,245 (GRCm39)	missense	possibly damaging	0.75
R6490:Dmrt1	UTSW	19	25,523,395 (GRCm39)	missense	possibly damaging	0.50
R6590:Dmrt1	UTSW	19	25,523,449 (GRCm39)	missense	probably benign
R6690:Dmrt1	UTSW	19	25,523,449 (GRCm39)	missense	probably benign
R7911:Dmrt1	UTSW	19	25,580,692 (GRCm39)	missense	probably benign	0.01
R7920:Dmrt1	UTSW	19	25,483,383 (GRCm39)	missense	possibly damaging	0.73
R7961:Dmrt1	UTSW	19	25,523,245 (GRCm39)	missense	possibly damaging	0.75
R8009:Dmrt1	UTSW	19	25,523,245 (GRCm39)	missense	possibly damaging	0.75
R9328:Dmrt1	UTSW	19	25,523,231 (GRCm39)	missense	probably damaging	0.96
R9448:Dmrt1	UTSW	19	25,523,255 (GRCm39)	missense	possibly damaging	0.95
R9729:Dmrt1	UTSW	19	25,523,362 (GRCm39)	missense	probably benign	0.00
X0064:Dmrt1	UTSW	19	25,523,255 (GRCm39)	missense	probably damaging	1.00
Z1176:Dmrt1	UTSW	19	25,537,334 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GCTGTAGAAGGCAAGATCTGTGGAC -3'
(R):5'- GCAGCCCATCTTTGCTGACATTAAC -3'

Sequencing Primer
(F):5'- acatcccaaacgctgcc -3'
(R):5'- TAGGCCAGTGTGCATCACATC -3'

Posted On

2013-04-16