Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02903:Dmrtc1b'

363709

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dmrtc1b

Ensembl Gene

ENSMUSG00000073027

Gene Name

DMRT-like family C1b

Synonyms

Dmrt8.2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02903

Quality Score

Status

Chromosome

Chromosomal Location

101751487-101758815 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101757173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 206 (L206Q)

Ref Sequence

ENSEMBL: ENSMUSP00000109239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101324] [ENSMUST00000113609] [ENSMUST00000118842]

AlphaFold

Q2PMX6

Predicted Effect

probably benign
Transcript: ENSMUST00000101324
AA Change: L180Q

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000098880
Gene: ENSMUSG00000073027
AA Change: L180Q

Domain	Start	End	E-Value	Type
low complexity region	166	175	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113609
AA Change: L206Q

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000109239
Gene: ENSMUSG00000073027
AA Change: L206Q

Domain	Start	End	E-Value	Type
low complexity region	192	201	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118842
AA Change: L141Q

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113730
Gene: ENSMUSG00000073027
AA Change: L141Q

Domain	Start	End	E-Value	Type
low complexity region	127	136	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	T	G	6: 116,397,296 (GRCm39)	N296T	probably damaging	Het
Anks6	C	T	4: 47,045,004 (GRCm39)	E301K	probably damaging	Het
Astn1	A	G	1: 158,516,120 (GRCm39)	S1237G	probably damaging	Het
Atf6	G	A	1: 170,627,283 (GRCm39)	P394S	probably benign	Het
Atp4a	G	A	7: 30,415,344 (GRCm39)	M321I	probably benign	Het
C4bp	G	A	1: 130,583,722 (GRCm39)	T82I	probably damaging	Het
Cask	A	T	X: 13,418,686 (GRCm39)		probably benign	Het
Cenpf	A	T	1: 189,379,073 (GRCm39)	S2906T	probably damaging	Het
Cfl1	T	C	19: 5,542,828 (GRCm39)	F103L	probably benign	Het
Chrnb3	A	T	8: 27,876,834 (GRCm39)	T83S	probably damaging	Het
Cmtr2	A	G	8: 110,949,510 (GRCm39)	T607A	probably benign	Het
Cplane1	G	T	15: 8,299,262 (GRCm39)	R3150M	unknown	Het
Cplane1	G	T	15: 8,299,263 (GRCm39)	R3150S	unknown	Het
Cts7	A	T	13: 61,504,440 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,770,307 (GRCm39)	Y514N	possibly damaging	Het
Dus3l	C	T	17: 57,075,363 (GRCm39)	L397F	probably damaging	Het
Gm6356	C	T	14: 6,973,735 (GRCm38)	G27E	probably damaging	Het
Hkdc1	C	T	10: 62,235,970 (GRCm39)		probably null	Het
Jkampl	A	G	6: 73,446,103 (GRCm39)	Y149H	probably damaging	Het
Kcmf1	A	T	6: 72,835,866 (GRCm39)	V21E	possibly damaging	Het
Kcnh4	T	A	11: 100,648,480 (GRCm39)	T75S	possibly damaging	Het
Lemd2	A	G	17: 27,412,184 (GRCm39)		probably benign	Het
Magee1	G	T	X: 104,166,945 (GRCm39)	R910L	probably damaging	Het
Mcm3ap	T	C	10: 76,307,092 (GRCm39)		probably benign	Het
Mfsd4b3-ps	T	A	10: 39,823,639 (GRCm39)	E207V	possibly damaging	Het
Or2ag15	A	G	7: 106,340,917 (GRCm39)	S75P	probably damaging	Het
Or7a38	A	G	10: 78,753,250 (GRCm39)	D192G	probably damaging	Het
Pappa	T	C	4: 65,180,217 (GRCm39)	V1026A	probably damaging	Het
Paxip1	A	G	5: 27,953,870 (GRCm39)	L942P	probably damaging	Het
Ppp1r12b	A	T	1: 134,883,387 (GRCm39)	L45Q	probably benign	Het
Pramel23	A	T	4: 143,425,736 (GRCm39)	M69K	probably benign	Het
Ptprq	T	C	10: 107,502,447 (GRCm39)	T824A	possibly damaging	Het
Rfwd3	T	C	8: 112,004,861 (GRCm39)	T574A	probably benign	Het
Rsbn1	T	C	3: 103,835,885 (GRCm39)	S308P	probably damaging	Het
Shisal2b	T	A	13: 105,000,118 (GRCm39)	Y35F	probably benign	Het
Smr2	A	T	5: 88,256,489 (GRCm39)	I56F	probably benign	Het
Wdfy4	C	T	14: 32,831,607 (GRCm39)	R873H	probably damaging	Het

Other mutations in Dmrtc1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Dmrtc1b	APN	X	101,757,233 (GRCm39)	missense	probably benign	0.10
IGL02503:Dmrtc1b	APN	X	101,758,366 (GRCm39)	missense	possibly damaging	0.92
IGL02612:Dmrtc1b	APN	X	101,756,873 (GRCm39)	missense	probably benign
R6178:Dmrtc1b	UTSW	X	101,757,169 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-12-18