Mutagenetix > Incidental Mutations

Incidental Mutation 'R2083:Dmrtb1'

230135

Institutional Source

Beutler Lab

Gene Symbol

Dmrtb1

Ensembl Gene

ENSMUSG00000028610

Gene Name

DMRT-like family B with proline-rich C-terminal, 1

Synonyms

Dmrt6, Prp13

MMRRC Submission

040088-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.411) question?

Stock #

R2083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107676290-107684230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107683612 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 184 (R184Q)

Ref Sequence

ENSEMBL: ENSMUSP00000064220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069271] [ENSMUST00000131776]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069271
AA Change: R184Q

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000064220
Gene: ENSMUSG00000028610
AA Change: R184Q

Domain	Start	End	E-Value	Type
Pfam:DM	3	49	1.5e-22	PFAM
low complexity region	72	82	N/A	INTRINSIC
low complexity region	94	102	N/A	INTRINSIC
internal_repeat_1	117	131	5.48e-5	PROSPERO
internal_repeat_1	130	143	5.48e-5	PROSPERO
low complexity region	172	190	N/A	INTRINSIC
low complexity region	279	306	N/A	INTRINSIC
low complexity region	316	326	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131508

Predicted Effect

probably benign
Transcript: ENSMUST00000131776

SMART Domains

Protein: ENSMUSP00000119617
Gene: ENSMUSG00000028610

Domain	Start	End	E-Value	Type
low complexity region	123	150	N/A	INTRINSIC
low complexity region	160	170	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male mice homozygous for a knock-out allele exhibit severe spermatogenesis defects, including a disruption of spermatogonial differentiation and a failure to complete meiotic prophase. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	A	5: 146,184,871	M73L	possibly damaging	Het
AA986860	A	T	1: 130,741,069	I58F	probably damaging	Het
Acsl3	A	T	1: 78,699,811	K507N	probably damaging	Het
Adcy3	T	C	12: 4,173,512	Y245H	probably damaging	Het
Adgra1	T	C	7: 139,875,631	S392P	probably damaging	Het
Ahnak	C	T	19: 9,011,557	P3402S	probably damaging	Het
Ambra1	T	A	2: 91,766,600	I12N	possibly damaging	Het
Atp10b	A	G	11: 43,212,423	T545A	probably benign	Het
Atxn2	G	T	5: 121,784,006	A638S	probably benign	Het
Cd109	T	C	9: 78,667,293	S520P	probably damaging	Het
Col6a3	T	C	1: 90,782,011	D1821G	unknown	Het
Cyp4a10	T	C	4: 115,525,308	V265A	possibly damaging	Het
Dnah7b	A	T	1: 46,241,067	I2719F	possibly damaging	Het
En2	T	C	5: 28,167,073	S183P	probably damaging	Het
Etfb	A	G	7: 43,456,500	T101A	probably benign	Het
Etl4	T	A	2: 20,743,549	S364T	probably damaging	Het
Fam196b	A	G	11: 34,402,141	D61G	probably benign	Het
Gm17728	C	A	17: 9,422,289	S77Y	possibly damaging	Het
Golga4	A	G	9: 118,532,590	E221G	probably damaging	Het
Gpr37	T	C	6: 25,688,417	N227S	possibly damaging	Het
Kctd1	A	T	18: 14,974,055	N784K	possibly damaging	Het
Klhl22	A	G	16: 17,776,525	T173A	probably benign	Het
Ly6e	T	A	15: 74,958,319	C41S	probably damaging	Het
Mapkbp1	T	C	2: 120,015,482	L444P	possibly damaging	Het
Mkx	A	T	18: 6,992,855	I143K	probably damaging	Het
Mlh3	A	G	12: 85,269,041	F124L	probably benign	Het
Nlrp1a	A	T	11: 71,124,220	L68H	possibly damaging	Het
Obscn	A	C	11: 59,073,631	Y726*	probably null	Het
Olfr1312	C	T	2: 112,042,553	V160I	probably benign	Het
Olfr26	T	G	9: 38,855,341	V93G	probably benign	Het
Peak1	G	A	9: 56,258,949	S565L	probably damaging	Het
Pter	T	A	2: 12,978,436	L84Q	probably damaging	Het
Ptpn4	A	G	1: 119,687,759	L555P	possibly damaging	Het
Rpp40	A	T	13: 35,898,992	M171K	probably benign	Het
Sacs	A	G	14: 61,206,506	I2000M	possibly damaging	Het
Scn5a	T	C	9: 119,492,123	I1458V	probably benign	Het
Slc38a4	T	C	15: 97,008,993	D288G	probably benign	Het
Slc8a2	T	G	7: 16,134,515	V224G	probably damaging	Het
Sptbn4	T	C	7: 27,428,256	E173G	probably benign	Het
Tas1r1	T	A	4: 152,028,391	H735L	probably benign	Het
Trps1	G	T	15: 50,822,305	Q155K	probably damaging	Het
Tspyl5	T	C	15: 33,686,746	H351R	probably damaging	Het
Ttf2	A	T	3: 100,969,501	D21E	probably benign	Het
Ttll7	A	G	3: 146,930,104	R398G	possibly damaging	Het
Tubgcp6	A	T	15: 89,122,376	Y148N	probably damaging	Het
Vmn1r8	T	A	6: 57,036,340	H125Q	probably benign	Het
Zfhx4	A	G	3: 5,403,163	T2794A	possibly damaging	Het
Zfp27	T	C	7: 29,894,783	I586V	probably benign	Het
Zfyve16	T	C	13: 92,524,262	D13G	probably damaging	Het

Other mutations in Dmrtb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01575:Dmrtb1	APN	4	107684068	missense	probably benign	0.00
R1397:Dmrtb1	UTSW	4	107677039	missense	probably damaging	1.00
R1579:Dmrtb1	UTSW	4	107684125	missense	probably damaging	1.00
R2025:Dmrtb1	UTSW	4	107683585	missense	probably damaging	0.98
R4574:Dmrtb1	UTSW	4	107677068	missense	possibly damaging	0.82
R4688:Dmrtb1	UTSW	4	107684050	missense	probably damaging	1.00
R4770:Dmrtb1	UTSW	4	107683789	missense	probably benign	0.01
R5693:Dmrtb1	UTSW	4	107684169	unclassified	probably benign
R6565:Dmrtb1	UTSW	4	107679345	missense	probably damaging	0.99
R7832:Dmrtb1	UTSW	4	107683982	missense	probably benign	0.19
R8115:Dmrtb1	UTSW	4	107677059	missense	probably benign	0.32
R8881:Dmrtb1	UTSW	4	107680725	missense	possibly damaging	0.90
Z1176:Dmrtb1	UTSW	4	107680830	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCCAAATCCTTGTCTGGGAAC -3'
(R):5'- AGCATTTGCCCACTGCCTAG -3'

Sequencing Primer
(F):5'- ACAGGTTCTCAAGCGGGGTTAC -3'
(R):5'- GCCACTTGCTTCCTCGAGAG -3'

Posted On

2014-09-18