Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02469:Dmrtc2'

294676

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dmrtc2

Ensembl Gene

ENSMUSG00000011349

Gene Name

doublesex and mab-3 related transcription factor like family C2

Synonyms

Dmrt7, 4933432E21Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

IGL02469

Quality Score

Status

Chromosome

Chromosomal Location

24569482-24577076 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 24572138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011493] [ENSMUST00000079306] [ENSMUST00000122995]

AlphaFold

Q8CGW9

Predicted Effect

probably benign
Transcript: ENSMUST00000011493

SMART Domains

Protein: ENSMUSP00000011493
Gene: ENSMUSG00000011349

Domain	Start	End	E-Value	Type
DM	38	91	6.53e-21	SMART
low complexity region	163	189	N/A	INTRINSIC
Pfam:DMRT-like	242	369	3.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079306

SMART Domains

Protein: ENSMUSP00000078287
Gene: ENSMUSG00000062732

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UPAR_LY6	142	233	7.5e-23	PFAM
low complexity region	237	244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122995

SMART Domains

Protein: ENSMUSP00000122913
Gene: ENSMUSG00000062732

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Males homozygous for a targeted allele are sterile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,645,074 (GRCm39)	Q975L	probably damaging	Het
Acad10	T	C	5: 121,783,522 (GRCm39)	Y301C	probably damaging	Het
Akr7a5	T	A	4: 139,041,492 (GRCm39)	S134T	probably damaging	Het
Aldh4a1	C	T	4: 139,375,472 (GRCm39)	T527I	probably damaging	Het
Atf2	A	G	2: 73,676,676 (GRCm39)	V146A	probably damaging	Het
C2cd6	A	T	1: 59,036,640 (GRCm39)		probably benign	Het
Caml	T	C	13: 55,776,390 (GRCm39)	S210P	probably damaging	Het
Casp1	A	C	9: 5,303,105 (GRCm39)	R186S	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdhr1	T	A	14: 36,807,557 (GRCm39)	Q361L	possibly damaging	Het
Chrna3	T	A	9: 54,923,290 (GRCm39)	T173S	probably benign	Het
Commd6	A	G	14: 101,874,463 (GRCm39)	V47A	probably damaging	Het
Dock3	T	C	9: 106,863,215 (GRCm39)	D721G	probably damaging	Het
Dpp10	T	C	1: 123,339,532 (GRCm39)	S332G	probably benign	Het
Dst	A	G	1: 34,227,909 (GRCm39)	E1834G	probably damaging	Het
Espl1	T	A	15: 102,222,460 (GRCm39)	L1034Q	probably damaging	Het
Gtf2ird2	C	T	5: 134,220,088 (GRCm39)	T22M	probably damaging	Het
Hyal2	T	C	9: 107,449,411 (GRCm39)	L389P	probably damaging	Het
Lipa	T	C	19: 34,471,435 (GRCm39)	D380G	probably damaging	Het
Marchf5	T	G	19: 37,194,674 (GRCm39)	W111G	probably damaging	Het
Or8h7	T	C	2: 86,721,499 (GRCm39)	T7A	possibly damaging	Het
Pfkfb2	A	T	1: 130,627,774 (GRCm39)	I391N	probably damaging	Het
Sec31a	T	C	5: 100,533,114 (GRCm39)	S544G	probably benign	Het
Slc26a9	A	G	1: 131,690,674 (GRCm39)	K530E	probably damaging	Het
Spaca3	G	A	11: 80,754,911 (GRCm39)		probably null	Het
Syne3	T	C	12: 104,920,565 (GRCm39)	S544G	probably benign	Het
Tctn3	T	C	19: 40,585,967 (GRCm39)	E526G	probably benign	Het
Tll1	A	T	8: 64,523,314 (GRCm39)	I466K	probably benign	Het
Ttbk1	A	G	17: 46,781,556 (GRCm39)	V399A	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,435 (GRCm39)	L189P	probably damaging	Het
Vmn2r100	T	A	17: 19,751,547 (GRCm39)	L530*	probably null	Het
Yipf3	T	C	17: 46,561,384 (GRCm39)		probably null	Het

Other mutations in Dmrtc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Dmrtc2	APN	7	24,572,001 (GRCm39)	missense	probably damaging	1.00
IGL02122:Dmrtc2	APN	7	24,572,008 (GRCm39)	missense	possibly damaging	0.71
R1173:Dmrtc2	UTSW	7	24,573,738 (GRCm39)	missense	possibly damaging	0.94
R1775:Dmrtc2	UTSW	7	24,573,792 (GRCm39)	missense	possibly damaging	0.57
R2167:Dmrtc2	UTSW	7	24,573,344 (GRCm39)	unclassified	probably benign
R2924:Dmrtc2	UTSW	7	24,571,941 (GRCm39)	missense	probably damaging	0.98
R3685:Dmrtc2	UTSW	7	24,573,687 (GRCm39)	missense	probably benign
R4205:Dmrtc2	UTSW	7	24,575,231 (GRCm39)	nonsense	probably null
R5455:Dmrtc2	UTSW	7	24,571,916 (GRCm39)	missense	probably benign	0.04
R9323:Dmrtc2	UTSW	7	24,572,341 (GRCm39)	missense	probably benign	0.02
Z31818:Dmrtc2	UTSW	7	24,576,583 (GRCm39)	missense	probably benign

Posted On

2015-04-16