Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02740:Dmrt2'

305843

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dmrt2

Ensembl Gene

ENSMUSG00000048138

Gene Name

doublesex and mab-3 related transcription factor 2

Synonyms

Terra

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02740

Quality Score

Status

Chromosome

Chromosomal Location

25649775-25656355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25655837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 479 (L479I)

Ref Sequence

ENSEMBL: ENSMUSP00000059654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053068]

AlphaFold

Q8BG36

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053068
AA Change: L479I

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059654
Gene: ENSMUSG00000048138
AA Change: L479I

Domain	Start	End	E-Value	Type
low complexity region	38	74	N/A	INTRINSIC
low complexity region	78	115	N/A	INTRINSIC
DM	119	172	5.2e-28	SMART
low complexity region	224	229	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila 'doublesex' (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display perinatal lethality due to breathing difficulties, multiple axial skeletal defects including kinked tails and rib and vertebral malformations, and abnormal somite organization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	C	T	1: 59,209,078 (GRCm39)	E1494K	probably benign	Het
Antxr2	A	G	5: 98,178,251 (GRCm39)		probably benign	Het
Arhgap23	A	C	11: 97,365,843 (GRCm39)	K998Q	probably damaging	Het
Bap1	A	G	14: 30,978,729 (GRCm39)	N47D	possibly damaging	Het
Carmil1	A	G	13: 24,278,501 (GRCm39)	I156T	probably damaging	Het
Ccdc141	T	C	2: 76,884,953 (GRCm39)	T563A	probably benign	Het
Cct7	T	C	6: 85,445,252 (GRCm39)	F501S	probably benign	Het
Cd59b	A	G	2: 103,909,242 (GRCm39)	I8V	probably benign	Het
Cep135	T	C	5: 76,786,115 (GRCm39)		probably null	Het
Cep170	T	G	1: 176,621,166 (GRCm39)	T4P	probably damaging	Het
Chaf1a	G	T	17: 56,374,500 (GRCm39)	G896W	probably damaging	Het
Cpt1b	A	T	15: 89,308,535 (GRCm39)	L131Q	probably damaging	Het
Dcaf13	C	T	15: 39,008,495 (GRCm39)	R366*	probably null	Het
Ddr2	A	T	1: 169,812,514 (GRCm39)	N659K	probably damaging	Het
Dnah10	A	G	5: 124,903,927 (GRCm39)		probably benign	Het
Dsg3	C	T	18: 20,660,765 (GRCm39)	T368M	possibly damaging	Het
Dspp	C	A	5: 104,325,104 (GRCm39)	S489*	probably null	Het
Eed	A	C	7: 89,621,464 (GRCm39)	V112G	possibly damaging	Het
Ehmt1	T	A	2: 24,705,851 (GRCm39)		probably benign	Het
Elavl3	T	C	9: 21,947,675 (GRCm39)	D89G	probably benign	Het
Ercc5	T	C	1: 44,206,652 (GRCm39)	S522P	probably benign	Het
Esrrg	T	C	1: 187,930,938 (GRCm39)	L320P	probably benign	Het
Gadl1	T	A	9: 115,835,629 (GRCm39)	Y352*	probably null	Het
Gemin5	G	A	11: 58,042,390 (GRCm39)	A477V	probably damaging	Het
Gm3086	A	T	12: 70,016,095 (GRCm39)		probably benign	Het
Gm8082	C	T	14: 42,846,570 (GRCm39)		probably benign	Het
Gpr180	T	C	14: 118,377,161 (GRCm39)	L54P	probably damaging	Het
Gpsm1	G	A	2: 26,230,585 (GRCm39)	V512M	probably benign	Het
Ighv5-4	A	G	12: 113,561,100 (GRCm39)	S107P	probably damaging	Het
Irak4	T	C	15: 94,464,925 (GRCm39)	*460Q	probably null	Het
Nfkbiz	G	T	16: 55,638,317 (GRCm39)	T381N	probably benign	Het
Or1e25	A	T	11: 73,493,657 (GRCm39)	N84Y	probably benign	Het
Or5d39	T	A	2: 87,979,601 (GRCm39)	H254L	probably damaging	Het
Or8b46	T	C	9: 38,450,226 (GRCm39)	F12L	probably damaging	Het
Or8g23	T	C	9: 38,971,585 (GRCm39)	I126V	probably benign	Het
Pou2f1	G	A	1: 165,710,685 (GRCm39)	Q523*	probably null	Het
Ptcra	A	G	17: 47,069,473 (GRCm39)	S133P	probably damaging	Het
Ptgfrn	A	T	3: 100,980,253 (GRCm39)	D362E	possibly damaging	Het
Rbm33	A	T	5: 28,536,121 (GRCm39)	D19V	probably damaging	Het
Rnf4	T	A	5: 34,506,898 (GRCm39)	V74D	possibly damaging	Het
Rprd1b	A	G	2: 157,889,899 (GRCm39)	D7G	probably damaging	Het
Rrp1b	A	G	17: 32,278,305 (GRCm39)	T659A	probably damaging	Het
Scaf11	T	C	15: 96,316,883 (GRCm39)	N894D	probably benign	Het
Scn1a	G	A	2: 66,155,106 (GRCm39)	R618C	probably damaging	Het
Scn1a	A	T	2: 66,148,421 (GRCm39)	D1041E	probably benign	Het
Slc43a1	G	T	2: 84,690,094 (GRCm39)	A424S	probably damaging	Het
Sprtn	T	C	8: 125,625,042 (GRCm39)	L49P	probably damaging	Het
Sv2a	G	T	3: 96,092,723 (GRCm39)	R141L	possibly damaging	Het
Thsd7b	C	T	1: 129,540,864 (GRCm39)	S246F	probably damaging	Het
Tmem117	A	T	15: 94,612,863 (GRCm39)	D133V	probably benign	Het
Tnn	A	T	1: 159,968,347 (GRCm39)		probably benign	Het
Triobp	G	A	15: 78,850,889 (GRCm39)	V348I	probably benign	Het
Trps1	A	T	15: 50,709,935 (GRCm39)	D134E	probably damaging	Het
Ttn	T	C	2: 76,598,162 (GRCm39)	I19584V	probably benign	Het
Uqcrfs1	T	C	13: 30,725,006 (GRCm39)	H178R	probably damaging	Het
Ush2a	A	T	1: 188,380,585 (GRCm39)	Q2298L	possibly damaging	Het
Vmn2r67	A	G	7: 84,785,818 (GRCm39)	I729T	probably damaging	Het
Vmn2r79	A	T	7: 86,653,366 (GRCm39)	M544L	probably benign	Het
Vps41	T	A	13: 19,022,850 (GRCm39)	L404Q	probably damaging	Het
Xrcc5	T	G	1: 72,379,240 (GRCm39)		probably null	Het
Zfp735	A	G	11: 73,601,412 (GRCm39)	K119E	possibly damaging	Het

Other mutations in Dmrt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02215:Dmrt2	APN	19	25,655,498 (GRCm39)	missense	probably damaging	1.00
IGL02269:Dmrt2	APN	19	25,655,823 (GRCm39)	missense	probably benign	0.01
R0141:Dmrt2	UTSW	19	25,655,655 (GRCm39)	missense	possibly damaging	0.52
R0294:Dmrt2	UTSW	19	25,655,435 (GRCm39)	missense	probably damaging	1.00
R0352:Dmrt2	UTSW	19	25,656,026 (GRCm39)	missense	probably damaging	1.00
R0514:Dmrt2	UTSW	19	25,653,019 (GRCm39)	critical splice donor site	probably null
R1016:Dmrt2	UTSW	19	25,652,938 (GRCm39)	missense	probably damaging	0.99
R1104:Dmrt2	UTSW	19	25,655,980 (GRCm39)	missense	probably benign	0.01
R1164:Dmrt2	UTSW	19	25,655,357 (GRCm39)	missense	possibly damaging	0.89
R1467:Dmrt2	UTSW	19	25,650,970 (GRCm39)	missense	possibly damaging	0.72
R1467:Dmrt2	UTSW	19	25,650,970 (GRCm39)	missense	possibly damaging	0.72
R3107:Dmrt2	UTSW	19	25,655,055 (GRCm39)	missense	probably benign	0.01
R3109:Dmrt2	UTSW	19	25,655,055 (GRCm39)	missense	probably benign	0.01
R4029:Dmrt2	UTSW	19	25,655,498 (GRCm39)	missense	probably damaging	0.99
R4841:Dmrt2	UTSW	19	25,655,031 (GRCm39)	missense	probably damaging	1.00
R5317:Dmrt2	UTSW	19	25,650,844 (GRCm39)	missense	probably benign	0.00
R6335:Dmrt2	UTSW	19	25,650,935 (GRCm39)	missense	possibly damaging	0.73
R6554:Dmrt2	UTSW	19	25,655,312 (GRCm39)	missense	probably damaging	1.00
R6752:Dmrt2	UTSW	19	25,655,706 (GRCm39)	missense	probably damaging	0.96
R7414:Dmrt2	UTSW	19	25,650,950 (GRCm39)	missense	probably benign	0.01
R7417:Dmrt2	UTSW	19	25,655,962 (GRCm39)	missense	probably benign	0.19
R8420:Dmrt2	UTSW	19	25,655,379 (GRCm39)	missense	probably damaging	1.00
R8489:Dmrt2	UTSW	19	25,655,831 (GRCm39)	missense	probably damaging	0.97
R8537:Dmrt2	UTSW	19	25,651,300 (GRCm39)	missense	possibly damaging	0.94
R9018:Dmrt2	UTSW	19	25,650,985 (GRCm39)	missense	probably benign	0.01
R9198:Dmrt2	UTSW	19	25,655,477 (GRCm39)	missense	probably benign	0.02
R9218:Dmrt2	UTSW	19	25,651,066 (GRCm39)	missense	possibly damaging	0.96
RF003:Dmrt2	UTSW	19	25,655,498 (GRCm39)	missense	probably damaging	1.00
X0058:Dmrt2	UTSW	19	25,651,194 (GRCm39)	missense	possibly damaging	0.95
X0060:Dmrt2	UTSW	19	25,651,194 (GRCm39)	missense	possibly damaging	0.95
X0063:Dmrt2	UTSW	19	25,651,194 (GRCm39)	missense	possibly damaging	0.95
Z1088:Dmrt2	UTSW	19	25,656,006 (GRCm39)	missense	probably damaging	1.00
Z1176:Dmrt2	UTSW	19	25,655,364 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16